WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Tuesday, January 31, 2012

No Topic Tuesday!

We are just going to pass the day trying to not eat in front of Abby- poor thing is really having a hard time the last couple days with being able to eat, and yesterday had pain with even fluids.

Her GI appointment is tomorrow- fingers crossed he can do something to help her get some relief ASAP. I hate having this high of an expectation of any specialist- our track record indicates that there is a good chance we might not get the quality of care she needs- but hey, I can hope right?


I did have a great day yesterday with a good friend- she and I had a regular old grown up day! IT was a wonderful day.


Also a Reminder- MitoAction is sponsoring a Mito Social in Houston(Katy). Laid back time to hang and chat with other Mito families- Kristi Wee's has graciously taken on finding a location,and setting everything up- no easy feat and I thank her! Should be a great time for all. I love the idea of spending the meeting as a mixer instead of having it Specialist lead- I am always so anxious to get to know other Mito Families.

If you could either contact me, Ginger at MitoAction, or Kristi to RSVP(the hospital gave us a nice meeting room for free, and free snacks!, but they need a headcount to make sure we have enough space.) that would be great!

All ages are welcome.
Date: Saturday, Feb. 25
Time: 10 a.m. - 1 p.m.
Place: Memorial Hermann Hospital-Katy
Tiger Room A & B
23900 Katy Freeway (I-10)
Katy, TX 77494
Please RSVP by Feb. 22 to support@mitoaction.org.

Monday, January 30, 2012

Mito, Abby and GI...

So it seems Abby's gut is not planning on bouncing back anytime soon and I need to get some vocabulary under my belt if I am going to be any use to her getting through this.

First up- Gatroparesis- http://en.wikipedia.org/wiki/Gastroparesis (I know wikipedia isn't perfect, but I love it!)

2) Motility Disorders - http://www.aboutgimotility.org/site/about-gi-motility/disorders-of-the-stomach/

3) Eosinophilic enteropathy-http://www.curedfoundation.org/aboutee.html

4) Bilirubin- http://en.wikipedia.org/wiki/Bilirubin

5) PreAlbumin-http://labtestsonline.org/understanding/analytes/prealbumin/tab/test

6) Elemental Formula's-http://www.eosinophilicesophagitishome.org/eosinophilic_esophagitis_diets/eoe_elemental_formula_diet/

7) G-tube-http://www.nlm.nih.gov/medlineplus/ency/article/002937.htm

8) J-tube-http://www.nlm.nih.gov/medlineplus/ency/patientinstructions/000181.htm

9) TPN-http://www.nlm.nih.gov/medlineplus/druginfo/meds/a601166.html

10)Pancreatitis-http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002129/

11)Probiotics-http://www.mayoclinic.com/health/probiotics/AN00389

12)There is about 10,000 more vocabulary words I will have to learn on this leg of the journey.


The most frustrating part is that we follow all the advice and despite doing the right things her gut still is not functioning right. Just as we think it is "healing" she crashes again. May I say, as usual, it is the Mito Moms and Dads who have talked me through this and answered all our questions- Thank you Mito parents! IT would be great if the Houston MedCenter would create a 1-800 nurse line just for Mito patients... I can dream right?

As usual we are putting a lot of hope into maybe if we fix her nutrition it will help with her ever growing lack of energy which we have been blaming on the Mito up to this point. She has a lifetime of difficulty with food, so perhaps it just went over the top finally. Starting to feel like that bounce we are waiting for is either in no hurry, or isn't coming.

I suspect weds will at least bring an elemental formula to help her nutritional status- my question, how the heck am I going to get her picky palate to drink the stuff?

Who knows, maybe this is all from an allergy, or a bad gallbladder- or some other common and fixable issues- I can hope right?

Friday, January 27, 2012

Mito, the value of Internet Support.

Today I was emailing back and forth with a lady on one of my "community-freecycle" groups. We both recognized the value of those emails we send out on a occasion to our group where we share a peek into each others lives. She is a Senior without a lot of family and since losing much of her hearing has felt very isolated. for us it has been Abby needing to be home or trying to keep her safe from germs. Either way, we both find days where we are terribly lonely.


Online support for Mito Families is essential. Many families have either major energy,immune, or severe disease where getting out to a social function or even just a trip to the Dr. becomes nearly impossible.


I have had a couple good chuckles about the UMDF walks.. Ironic that they would pick a "walk" and a near all day event that at least for us is absolutely impossible to participate in!! We tried to go to a UMDF meeting, but by the time Abby was brushed and dressed and the drive down there, she was too tired to go in!! LOL So, the thought of being at a function for a walk, is simply insane to us!

Okay, so I know that not all families with Mito are as handicapped by fatigue as we are, but still you have to figure at least 50 percent of families so in need of support could never rally the energy to attend a meeting and certainly not a walk!! If I asked friends and family to help me fundraise, they would expect that we would be participating right? Then also add in the fact that often even the healthiest among the Mito world frequently encounter crashes,flares and unexpected illness, probably less the 25 percent of Mito families can participate.

Over the last year I have been lucky to find a few ladies to chatter on the phone with- those phone calls are GOLDEN! To simply hear another parent who is struggling with any of the variables of Mito is magic to me. I know my oldest and dearest friends MUST be exhausted with 15 years of my need to talk through Abby's issues- and I know I have lost quite a few friends and family that just could not handle it- I have mourned each loss as I NEED the human connection.

MitoAction does have a schedule of online conference calls, and I think I will give them a try. I have stayed away from any of the UMDF activities because of energy and the feeling of elitism that we have encountered in Houston(and I am hearing from other families they are getting that same feeling of elitism and alienation all across the Country). So I have been leery of trying MitoAction. However, MitoAction seems to understand that there is a huge population of Mito Families that are in serious need of support, of a community. I am so impressed with the fact that they are listening to those of us who don't have the Energy to Walk for a cure!


I have been a little disturbed over the last year when I find articles about different fundraiser activities for Mito. The ones that get the most attention are the ones that involve the most Money and Energy. Two things that many in the Mito Community do not have the means to participate in. I have also heard and witnessed a disconnect between those who run those functions and the rest of us. It saddens me that so many Mito patients who would benefit from a friendly call or email are ignored, brushed off, because many involved in these activities only include those who will either connect them to people of means or have financial or Energy means. Where does that leave the rest of us? We do want to help, and we need support too!

On the other hand, they are only doing what every other disease association is forced to do. Like breast cancer awareness walks that cost thousands to participate in,and the disease associations that beg or pay celebraties to be ombudsmen for their cause. I know it is just the way the world works- but while they are raising money and attending balls and celebrity functions, don't forget that we want to help too! Can you post a live feed of a fancy dinner so we feel like we are there too? Can you send us all a ribbon to wear so we can spread awareness everywhere we do manage to go? Can you help us start a phone tree? Or help us figure out which family Drs. in our community can handle a Mito patient? can you call the ER's and teach them about Mito? Can you have a Mito representative that works as an advocate for a Mito patient when CPS is called? I know you need the funds you raise for research, but when you prescribe supplements we cannot afford, or we need medical equipment our insurance won't pay, or you prescribe PT,OT our insurance won't cover, none of the Associations help with that...

The other day I posted that the UMDF is setting up a table for Mito Awareness in partnership with Texas Childrens and Texas protective(family services)services(CPS).. Right now in Houston not many folks trust or think kindly of CPS in the Mito world or in any other struggling families- they have a history this last couple years of making rash and destructive decisions that were simply wrong. I kind of scratched my head wondering which Mito family would volunteer to help them? Okay, so a little paranoid, but seriously don't these representatives who set this stuff up think about this stuff? I suspect one of the board members or families with adult children will end up volunteering- would a Houstonian with an underage child who has either suffered at the hands of CPS(either out of CPS's ignorance or corruption)or heard of another family suffering actually sit there and help them?


This is where our online support is essential. I can go to a forum any time of day or night and find another Mito patient who has been there done that! I have made friends... I have been able to help other Mito patients, I have been able to spread awareness. The internet is my life line to the world- as it is for thousands of us- help us find a way to use that to get the word out there! We do make a difference just teaching people about Mito, but it sure would feel good if we were thanked the way the Associations thank someone who just writes a big check. Don't forget who it is you were trying to help- don't lose your course and turn working to help people into only thinking about yourself or your Association as a money maker- Keep it real!

Thursday, January 26, 2012

Mito,food, and family.

Last night I ended the food wars. I am so far past done. I am not sure exactly which straw broke the camels back, but it is over. I will no longer cook or do dishes for my family. IT is everyone fend for themselves.


Keep in mind they are actually quite grown and they know how to cook for themselves - smart enough for College, smart enough to feed themselves. :-)


Derek went gluten/starch free and has been off and on for the last couple months. Hasn't lost much weight but feels better.

Sara just seems disenchanted with the "family meal" and hasn't been in the "mood" for what I cook very often lately.

Abby has been difficult to cook for since the beginning, but worse now with the extreme limitations.

So, gluten free,dairy free,no grains,no shellfish,no nuts for Abby, potatoes,1 hates onion and 1 loves it, no raw greens for Abby, no green peppers for Abby, no celery for Abby..,no beef or pork for Abby, no soy for Abby..no msg,chemicals or preservatives..etc 2 eat salmon, 2 cannot or hate it, some like cod, some don't. What the girls like and Abby can eat are on Derek's cannot eat list.. Done,done, done.

I got to be honest, what is left is limited! But, I try my best to make something for everyone- no one is ever happy. Derek is appreciative that I try, but that isn't enough to bring myself to spend half my day worrying about food. 2 tv dinner trays,2 forks and a coffee cup and I am done with my food needs.


They seem to prefer making their own food. So, so be it! However, I will not do their dishes,pots,containers... if I am forced to clean up after them those dishes will disappear. Then they can eat sandwiches,deli meat, and anything else that works on paper cups and plates.

Not all their fault, some of this is health based- but that part I don't mind. There are exceptions to this rule, but the 5 o'clock bell is broken.


I thought when I woke up this morning, I would wake up knowing I was just being dramatic- but, nope- it is the right thing to do.

Who knows? Maybe I needed to do this a long long time ago! I suspect there will be more drama in this department before we all work it out..

Wednesday, January 25, 2012

Nationality and Mitochondrial Disease...

French,English,Irish,Scottish,Polish,Russian,Czech, and who knows what else? That is Abby's heritage. Recently after we started doing more genetic studies I have been hitting Ancestry.com and found my husbands Great Grandparents were Jewish, and about 6 generations back a freed(or perhaps not so free, but still listed as married and Mother) slave from Barbados entered our families lineage.


One of my many questions is what is the racial distribution of Mitochondrial Disease?


Years ago when I started joining online support groups, I have found a predominance of caucasian patients with myopathies. I suspect that because a predominance of caucasians continue traditional families where the mother is at home(thus have more time to find online support groups.)


Just guessing, because despite turning the web upside I have yet to find a graph that shows which nationalities have higher levels of Mitochondrial disease.


There are some diseases that have higher rates in certain populations. We know that a few diseases are predominant in those of Jewish heritage.. we know Sickle Cell is predominant in those with African ancestry.


The only data I have is via the Web. I have found support groups for Mito from all over the Globe.(Thank you google translate!). Again and again I have looked for data to answer my question, and just not finding it.


It is not like this information will make a difference to Abby or me as far as medical care, but I just find the genetics very interesting. Well outside of my education, but enjoyable to research.


When at the UT building in the MedCenter Houston, I try to pay attention and do a head count- but, the MedCenter serves many many Nationalities- some from other Countries- so no way to know which ones are being seen by any of the specialists for Mitochondrial diseases. Yet, I cannot help but wonder if our heritage may hint at whether to watch for Mito?

If you are a petite caucasian woman you know to watch for Osteoporosis.. If you are of Jewish Ancestry you know to watch for Tay-Sachs disease.. I wonder if knowing your risks based on nationality would help diagnose Mito faster.


Somewhere deep inside me, I think if they found that for example, being of Polish or Scottish heritage puts you at a higher risk then I could blame that instead of wondering what I must have done wrong during my pregnancy to cause this in Abby. You just cannot help but wonder if you used too much plastic, too many vaccines(recent court case proved that vaccines triggered Mitochondrial disease which triggered Autism), lived too close to a power line,exposed to too much pollution,ate too many pesticides on your food..I realize I may never know, but to know just seems so reassuring to me, even if it turns out to be something I could have controlled.

Clearly Abby is a Heinz 57 when it comes to her genealogy- even if they found a predominance it might be difficult to weed out which ancestor to thank for this nasty disease..

I know my Dad was a floppy baby and slow to walk and had significant allergies and asthma(lots of hospital time). I know on my Mom's side my Gram was a medical marvel...so who knows? Maybe it took the perfect storm of genes to end up where Abby is at...still, I cannot help but want to know- my fault, or heritage?

Tuesday, January 24, 2012

Mitochondrial Disease +Kidney Disease

For any reader that has issues with TMI and body functions- I suggest you skip this post! :-)


After years of limbo and a vague diagnosis, Abby developed kidney disease at around age 14. Looking back, I suspect she probably had symptoms for years, just nothing significant enough to warrant a trip to a nephrologist.

At 13-14 Abby was attempting a year in Public High School(a whole other post!). She was exhausted,constantly sick and obviously beyond worn down. At this point we knew about the kyphosis/scoliosis and were beginning to accept that what we were seeing did not fit the "undefined congenital myopathy". So, when she told us she was peeing raspberry jello- Panic set into my heart.

Her first family Dr. thought it was likely a "girl" issue- NOT. We saw a new family Dr. who said NOT NORMAL- and we needed to fully investigate.

The first Nephrologist we saw was really good. Her thoughts was something "odd" and "unusual" was presenting. Abby had both protein and blood(both visual and non visual)not to mention the amount of mucus.. So, we were scheduled to see her again and she was wanting Abby to see a number of specialists as she felt this kidney issue was secondary to some other disease process. However, we got a note a couple weeks before our appointment that she was moving to Atlanta. We went ahead and took an appointment with her replacement who told us that Abby needed to drink more water and poop more and she would be fine. I am not kidding folks- I was speechless- and that NEVER happens!

Finally we got in with Abby's current Nephrologist who turned out to be the catalyst to finding the Mitochondrial Depletion Syndrome.

Right now Abby's kidney diagnosis is "suspected secondary FSGS" due to Mitochondrial disease. With time and continued symptoms that will become "confirmed" but since no other disease process fits, Secondary FSGS it is.. and it is a lousy diagnosis. No treatment. Basically, her body is being too hard on her kidneys, or her kidneys aren't strong enough(perhaps a depletion here?) to handle her body. She is on a very low dose Ace which isn't slowing the protein(leaking proteins cause scarring). When we started this journey she was a 1+ or 2+ on proteins on bad days, and now and then would still have no protein. Today for the last couple months she is up to off the chart 4+ almost as many days as she is 2+. We have not seen a protein free dip in months.

During this process we were referred to Urology- Abby is leaky at times and the Nephrology felt the visual blood and mucus was coming from her bladder. Her bladder is small but no reflux(worlds WORST medical test!). Finally, the visual blood has stopped- we all suspect she had a broken blood vessel or bladder ulcer- we decided to leave the bladder alone for now- the next test would be a scope(have to knock her out)and it isn't worth the risk if the the worst of the symptoms are abating.

We have spent three years trying to figure out if something Abby is doing triggers a response from her kidneys. MSG- will cause a spike in protein,Dairy with cause a spike,a head cold, stress, fatigue will cause a spike in her protein level. So, just living - the only thing we can offer Abby is for her to not over do it and to avoid foods that cause a reaction.

It has been difficult to find other patients with a similar diagnosis- secondary FSGS is so far not a common finding in the Mito population. I have found a few now though. 50 percent have stayed on a mild course. 50 percent are barreling toward serious problems.

There are only a few different papers on this population of patients. So, no telling what is coming at us. Both UMDF and MitoAction do have a little bit of information on Renal diseases and Mito- but not a lot.

When Abby was little she had frequent "bladder infections/UTI's" (white blood cells,blood and protein)but I remember that they would culture her urine and no bacteria would show up- which leads me to wonder if this kidney issue was at work all the way back in the Toddler years.

My warning to all Mito Patients- Watch your Pee! You can buy urine test strips online(we buy from Amazon for less then 25.00)they test for a number of findings. Protein, Glucose, ketones.. and more. It has been very interesting that often before something is diagnosed in Abby, her urine has been hinting at an issue. The home urine strips are reasonably accurate- at least enough to show a problem. The key for testing urine is always first morning pee only. Studies indicate the first morning urine equals accuracy to a 24 urine catch. If you find a problem I recommend charting. We tested daily for months and months. It helped the Nephrologist recognize that this was an unusual disease process.

This last few weeks I have been trying to ignore Abby's kidneys. Since there isn't anything to be done unless something serious happens I have been trying very hard to not fixate on them. Hard to ignore though. Abby seems to get more delicate by the day. Some how she manages to avoid any major issues - but I feel like we are watching the clock- which of Abby's organs are going to crash first? Her kidneys? liver? Lungs? For now, her body is complaining, but coping- we are from a long line of tough and hardy people- I can only hope she got a good dose of those genes too!

Monday, January 23, 2012

Blog: Raising Redheads-

I follow a few blogs and one of my latest favorites is Raising Redheads-


Mabel is beyond adorable, but more then that her Mom writes so brilliantly about the day to day joys of parenting, and she reminds me that all our children are gifts. She reminds me just how wonderful my girls are, every quirk,every smile, every not normal moment- well, they are mine to see as goodness, joys and the very heart of my reason to be here, if I can't see that then who can?

She had an especially touching post today that I would like to share, and she has encouraged her readers to share.

http://rameelinlarson.blogspot.com/

Spoon Theory Charm

My latest creation-



In the Mito Community the Spoon Theory (http://www.butyoudontlooksick.com/articles/written-by-christine/the-spoon-theory-written-by-christine-miserandino/) is a great way for many to describe their daily struggles. I would have copied here for you but it appears I need permission to re-print or copy- hoping a link is legal! :-)


You can buy this charm necklace at: http://www.etsy.com/shop/Mitocrafts 100 percent of the profit from this item donated to MitoAction.org

How long did it take to be diagnosed with Mito?

15 years start to what we hope is finish.



Abby's first diagnose at 18 months IFSH(Infantile facioscapulohumeral) then a year later it was changed to Undefined Congenital Myopathy.


Last year it was changed again to Mitochondrial Depletion Syndrome. We had a Mito Specialist who thought it was Huntington's disease- so that is 4 different diagnoses.

Frankly, after that many different labels, I am not sure I believe this diagnosis either- we are leaning toward calling it "Abby's disease!" LOL


So Abby is 16. 16 years of not knowing for sure what made my girl sick.


As I have been talking to more Mito families, a lot of teens seem to have followed a similar timeline. The little ones seem to be diagnosed more quickly these days- at least with the "suspected Mito" diagnosis. By more quickly, I mean 2-3 years! When you have a sick 2 year old 2-3 years is literally FOREVER!

One new trend is the Autism connection. It seems a lot of neurologists are taking a deeper look at this connection. I am surprised that despite much clearer guidelines on the identification of autism some Neurologists still confuse fatigue and pain and shyness with Autism- Mito Mom's see the difference.. why would a Neurologist not be able to see it? Also, some children with Autism also have Mito- they may have Autism secondary to Mito(vaccine case proved that the vaccine triggered a problem with the childs Mitochondria causing the autism)besides vaccines there appears to also be a genetic element some of our braver Mito specialists are investigating.

A new trend I am noticing is that some kids/adults with a Mito diagnosis are having their Drs. now second guess that diagnosis. Many had clinical pictures but not the genetics. So some who had a diagnosis are now back in limbo land.

This is all great from a purely medical and scientific standpoint, but there is way more involved for families. First, trying to explain Mito to friends,family and school(when we struggle to understand it ourselves). Trying to get government services for those that qualify, and then when the diagnosis is taken away a couple years into it, then those families have to go back and explain why they went from having Mito to "suspected" Mito.

Those who seem to be diagnosed the quickest are the ones that have feeding issues.(these families also seem to have to deal with CPS most frequently- CPS who have no medical degrees and trust Dr.s that got their certificats in another country or back in 1960 before we knew about Mito)

Seizures are the next serious sign that the modern geneticist,Mito specialist and some neurologists will see as a hint toward Mito.

Next up is liver- but often liver involvement in babies and toddlers seems to progress more quickly- so more attention.

To be clear Mito is supposed to be considered with more then two different systems or organs involved.

Location is also key to diagnosis- if you live in the NE you are most likely to find specialists wanting to get a diagnosis/treatment for you. The NW is second and the midwest is third(midwest and NW are close)- The South is bottom of the pile, though with Atlanta working hard to provide proper care the South may move to at least third place instead of 4th place shortly.Again, ironic with Houston being the 4th largest city (and the South in general having many of the biggest and most financially successful cities) with some of the Worlds best cancer and cardiac care that they rate the bottom of the pile for Mito.

Heaven save those of us who simply have "fatigue" and/dysautonomia! Abby clearly had hypotonia and fatigue since birth- and the majority of Drs. either blew it off(lazy kid,lazy family etc)or admit something is off but nothing to do, or go see a specialist who sends us home because she wasn't sick enough to make diagnostics clear cut or insinuated that I was off my rocker(eccentric, but sane thank you!). Many times we have regretted not staying on the East Coast since that is where Abby got the best care but we also needed money to find what was wrong and the South is where the best jobs and lowest cost of living can be found.

Not having a diagnosis or being left in limbo is as life changing as the Mito diagnosis. No soccer Mom for me! I had to become the great protector. I had to change our lifestyle from one who wanted to participate in the world to one that focused on scholastic and books.. I slowly closed us in from the world because it was the only way to keep my children safe. I am so proud of how bright my two girls are and the huge academic accomplishments they have made, but because no one was willing or able to tell me what was wrong with Abby we missed out on family reunions, late nights, sleepovers, birthdays, school clubs, girl scouts, music lessons,berry picking,clam digging,crabbing, camping,hiking..... we were able to experience some of it once or twice, but energy restraints prevented the girls from fully exploring. It left me in a bad spot as well- constantly making excuses, trying to get them(friends and family)to understand that we wanted to play with them, but because of how delicate Abby was, we could not.

Leaving us in limbo left us very very alone. I am thankfully a bit(okay, maybe more then a bit!) on the pushy side and willing to think outside of the box-despite the discomfort it causes me when I am alienated from having a peer group.(humans need a culture and tribe /basic anthropology). I often worry about families that aren't as prepared to be the odd duck-ironic that the Mito Specialists are finding a high level of depression and anxiety in the Mito population-of course they are looking for the genetic connection- but frankly, it is more of a situational disorder for many.( Being tired and in pain for most of your life but afraid to ask for help since they never find anything and then treat you like you are a drama queen or pain med addict would drive the strongest among us to doubt our own sanity) The situation being partially created by the Medical society lack of willingness to consider our mental health while they leave us in limbo. Growing up in a family with therapists,psychologists, and being raised in the hippy NW probably gave me more tools then most to live on the outskirts of society, but it doesn't mean I like it!!!


The most important issue is to figure out how to quickly diagnosis Mtio, all of it, every one of its many faces. That would eliminate limbo land. Likely eliminate some of the mental health issues. It would lead to better care and the ability to develop a peer group. It would eliminate the CPS investigations and damaging removal of children from loving families, it would give us all more strength to fight this vicious disease.

No one should have to suffer 2-15 years to find out what is wrong with their baby. No one should be forced to live on the edge of society because society has no room for those of us in limbo.


Awareness,diagnostics, treatment- then a cure!




Saturday, January 21, 2012

MitoAction.org and UMDF Activities in Houston

So after I blasted Houston in my last post for social climbing,catty behavior, and lack of Medical care, I figured I should do my part to spread the word for Mito Families to get involved.

I am excited to announce that MitoAction.org is hosting a Mito social in Katy, Texas at the end of February! This is the first meeting, so everyone is on equal footing :-) I know a few folks that are going, and it should be a couple of good hours of being able to vent, share and get to know other families struggling with Mito. I am looking forward to grownup time, and seeing lots of little ones, remember,I am having serious empty nest around here!


Dear friends in Texas,

Do you want to meet other families dealing with mitochondrial disease or those who are in the process of a diagnosis? Make connections with others in your area going through the same things? Here’s your chance!

You are invited to Mitochondri-ya’ll, a Mito Patient & Family Social! This low-key, relaxed, fun gathering hosted by MitoAction & Kristi Wees will allow you to share stories and resources, give and get support, make new friends, and realize you’re not alone on this difficult journey.

All ages are welcome.

Date: Saturday, Feb. 25

Time: 10 a.m. - 1 p.m.

Place: Memorial Hermann Hospital-Katy

Tiger Room A & B

23900 Katy Freeway (I-10)

Katy, TX 77494

Please RSVP by Feb. 22 to support@mitoaction.org.

MitoAction’s mission is to improve the quality of life for everyone affected by mitochondrial disease through support, education, outreach, and advocacy initiatives. We believe in supporting and empowering our Mito community today.

For more information, contact MitoAction Membership & Support Coordinator Ginger DeShaney at support@mitoaction.org or Social host Kristi Wees at kristiwees@gmail.com.

Please RSVP and join us. We look forward to seeing you there!




--
Ginger DeShaney
Membership & Support Coordinator
888-MITOACTION (888-648-6228)



Would you like to host a Mito Social?

It's easy! Here's what the host will do:

• Set a date for the event.

• Secure space for the Social, such as a hospital, church basement, community center, or school.

• Buy snacks and beverages for the event using a stipend from MitoAction.

• Take care of the day-of setup and cleanup.

• Send MitoAction photos of your Social and your sign-in sheet.

Here's what MitoAction will do:

• Send email invitations to Mito patients and families in your area.

• Manage the RSVPs.

• Provide a stipend for snacks and beverages.

• Provide sign-in sheets and Mito materials to have available at your event.

• Post photos and a write-up of your Social on our Facebook page.

To sign up to host a Social or for more information, contact Ginger DeShaney at support@mitoaction.org.




Yesterday, just a few hours after my Epic Rant about the lack of involvement in Mito Care in Houston, I found a UMDF announcement in my email- talk about karma! It appears that Texas Children's is finally getting onboard and making an effort to educate about Mito(please tell they are working on their Drs. first!). UMDF is looking for volunteers to sit a booth during a special needs resource fair. I did notice however, that it is the Texas Department of State Health Services providing funding for the event- are they connected to CPS? I will have to look that up- call me paranoid, but even though Abby is grown, I have a bit of distrust after all the news articles about mito families and CPS and Texas Childrens in the newspaper. Let us hope this is a sign that FINALLY our Medical Schools and Hospital systems are at least willing to admit that Mito is a real and devastating disease. Only time will tell.


Hello UMDF Texas!!!
The Houston Chapter of the UMDF and the National Office have been approached by our Baylor/Texas Children's Hospital contact to assist with Resource Fairs in select Texas cities to promote mitochondrial disease awareness.
The Baylor/Texas Children's contact is planning resource fairs with special needs in 8 locations in Texas this year -- she would like to have a UMDF patient/family to host the booth (serve as a volunteer to distribute materials and answer questions). UMDF will provide the materials!
If you live in one of the following areas and are available on the date provided, please email me at kara@umdf.org so that I can pull together all interested parties for our contact.
This is a GREAT opportunity to spread awareness across Texas and to help families with special needs gain valuable information about mitochondrial disease to better care for their loved ones. Special Thanks to Baylor/Texas Children's for giving us this wonderful chance to share information with others across Texas -- this has been made possible through funding from the Texas Department of State Health Services!
Lubbock, Tx - Saturday, February 4, 2012
El Paso, Tx - Saturday, March 3, 2012
McAllen, Tx - Saturday, April 21, 2012
Midland/Odessa, Tx - Saturday, April 28, 2012
Brownsville, Tx - Tuesday, May 1, 2012
San Antonio, Tx - Saturday, June 23, 2012
Tyler, Tx - Saturday, June 30, 2012
Houston - Date to be Announced!
Again, please email me ASAP to let me know if you are interested and available to help out...Thank you!
Yours Toward a Cure,
Kara Strittmatter, Director of Chapter and Membership Services
UMDF National
kara@umdf.org
Visit www.energyforlifewalk.org for Walk updates -
Houston's Walk (www.energyforlifewalk.org/houston) is February 4!!!
Mark your Calendars for Mitochondrial Medicine 2012 (June 13-16, 2012) - visit www.umdf.org/symposium for updates!


"Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10."

The United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201 | Pittsburgh, PA 15239
Toll-Free: 888-317-8633 | F: 412-793-6477 | info@umdf.org

To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders
and to provide support to affected individuals and families.


So, two opportunities in Houston for patients and families to get involved- Lets jump in and be heard! If we all yell together and DEMAND that our supposed top notch Medical Center get it together and learn about Mito so we can quit traveling for care, we can be heard and make a difference.








Thursday, January 19, 2012

WANTED: Mitochondrial Disease Drs. in Houston!!!

We need Mito Drs- we need volunteers and families willing to WORK TOGETHER to help Mito Patients.

There are thousands of specialists in this city and so few have a clue about what is even safe for the IV for hydrating a Mito Patient - Memorial Hermann is the name most families recommend for ER care- the stories I have heard from parents about bad experiences not because they went to a bad Dr. or a bad hospital but simply because the 4th largest city, Houston has NO CLUE about how to care for a Mito patient-

Again and again I am told to "hush" and not express my displeasure at the fact that Houston SUCKS for Mitochondrial care. Fact is, it does- The Houston Med Center may be a center of Excellence for a lot of diseases, but hear me loud and clear Houston- If you suspect that your child may have mitochondrial disease, go somewhere else for care, or be prepared to go through a lot of new patient visits until you find a Doctor that can handle you or your child- it is slim pickings out there!


It is absolutely mind blowing and galling that we are 4th biggest city in the United States and if you visit either the UMDF or MitoAction website they only have 1 name listed- and that 1 name is in Pediatrics and for many of us it was not a good fit for a lot of reasons. So, we have had to travel hundreds and sometimes thousands of miles to get the care we need. We have no choice. Our suburban Drs. have no idea what Mito is and can only ask if we contacted the MDA for recommendations- We actually went to the MDA clinic years and years ago, and it was not a helpful experience, maybe they have changed? Our Peds and family Drs. are struggling to find care for us, and they don't know where to send us! The Houston Mito Community deserves better! What are those medical schools teaching? Can they not spare a few minutes to teach our Drs. that our children and adults are dying of a disease and are left isolated and alienated from care and also have ZERO support?

I am not impressed thus far compared to the other places we have lived. I have felt tremendous pressure to just appreciate the tiny bit of available care and quit complaining- I will NOT quit vocalizing my displeasure until I know that no other child goes as many years as Abby went, that every parent is given EQUAL care and EQUAL support- I will quit when people quit trying to put one face on Mito and quit trying to define "the Mito Landscape". There is no landscape, there is no support and we have less then a handful of folks that advertise that they care for our population.

Do you know that I actually talked with an adult Mito patient who worked as a Nurse, and she would not tell me who she saw? Who had diagnosed her, or where I could possibly take our child- and this was a Nurse with this hideous disease! What is wrong with you people!?!?!?

After 16 years I have learned more about Mito from being online and talking to a few Moms and taking one trip to Atlanta to see a specialist there than I learned in the zillion appointments here in Houston. Shame Shame Houston Specialist!

Are there specialists out there that are familiar with Mito and want to help all of our patients? If you are out there, and truly feel the calling to care for Mito Patients- write me- I will go out of my way to send you more patients then you could ever dream of, that is if you are willing to even point these families in the right direction. From what I have heard there are a lot of turf wars in the Medical world here in Houston and sometimes the good Drs. don't get the advertising they deserve.

I have read of three cases(I don't network, so if I found that many there must be dozens more!) now of parents who have been investigated by CPS because Texas Children's is or was so far behind on the medical advancements of this century that they did not believe that Mito has more then one presentation(I am just a dumb Mom and can download THOUSANDS of articles online about Mitochondrial disease and the massive research going on everywhere EXCEPT IN HOUSTON!)


Over the past few years I have received emails from parents asking me where to take their children for care, because in HOUSTON with the big medical community that we have, they cannot find a Dr. or a even community of parents to turn to to ask for help! So not only am I angry that our Great Medical Center doesn't give a hoot about Mito and my child, I am also now ticked for the dozens of other parents who have sick kids yet are either terrified to go see a specialist and ask about Mito because someone may call CPS on them or some who simply cannot get the diagnostics or answers.


What is wrong with this picture?

Is there some sort of turf war between the two hospital systems? Is this a social climbing exercise for Drs? Is this a social climbing exercise for parents who care more about being "someone" in their little world than in getting awareness and care out to the children literally dying to get it???


What the hell is wrong with you Houston? Houstonians are better then that. I don't know what the problems is, or when it started but it MUST end.

Do you know, I have had parents fuss me for sharing my various and numerous bad Dr. experiences- they dont want me to bring any bad "press' or publicity, they want me to be a cheerleader - no one is supposed to talk about being upset or dissatisfied at a support meeting or chat online- So tell me this Batman- if we don't vocalize what the problem is, how are we to solve it????? Parents also who live in fear that if they express their dissatisfaction with the care here or a Dr. in particular that the Dr. would sue them? That they fear the Drs. being so petty that they would actually deny or disrupt the care for their children??? Are you serious? Are there really Mito folks out there that see this as social experience? As a "Mito Club"? Do you have be on one side or the other?

Do you also know that I have already heard rumbles that some folks who are involved in the Mito Community are very unhappy that a few parents who are terrified and not getting answers want to get together and help each other? Mind you we are looking for the help that we are not being given by them- support they are NOT willing to give us- do they want us to just move? Or just keep spending our 401K's to travel to other states to get the care we should get here? What is wrong with you people!

The Moms I have spoken with just want care for their children. They just want to chat and feel safe with other families- We aren't looking to make the social pages, we have no interest in what your salary is, we don't care about whether your name is a on a research paper- we want the Mito community to support one another, to help encourage more specialists to care and offer us a choice depending on our needs. Houston is big enough for all of us, and certainly big enough to get better care and support then what we are getting.

As I end this rant, I do want to thank the Drs. we have that do care. The Drs. who listen to us. We do have some good Drs. here in Houston and they are our life lines. Thank you to all the Pediatricians who "see" what we see and try to find our children help, all the family Drs. and internal medicine folks who "see" us and try to find us help. But for anyone else who continues to think more about themselves and trying to use this hideous disease to climb the Houston social ladder or to covet the little bit of care all to themselves- SHAME ON YOU!

Food Battles-

The one issue that has driven me batty with Abby is the constant issue with foods.

I have resigned myself to really not understanding what causes her tendency develop a reaction to any food she eats too frequently, we just try to roll with it.

From talking to the other Mom's in the Mito world, food is a central issue. Either the kids aren't eating, or aren't eating what they should, have terrible digestive issues, constipation, allergies, no interest- it seems one way or another food is an issue we all deal with.

Right now I live in fear that a "tube" is in Abby's near future- for whatever reason, my "gut" tells me that if she were to get a tube that intervention would lead to another one. So I have declared war on food!

Abby's food problems began while she was nursing. When she finally had allergy testing done, she was allergic to corn,soy,tomato,shellfish,peanuts,eggs,dairy and much more! They said I had to quit eating all of those foods if I would keep nursing her! YIKES! Anyone who has had to read a label knows corn,soy,or dairy is or was in about every food item especially 15 years ago- When Abby decided to quit nursing- I was so relieved. She never really was happy nursing- as either I had allergens in my milk or she was too tired to nurse as long as she craved. It was awful getting her to eat a variety of foods as a toddler. Some of the issue was sensory defensiveness, some allergy, some fatigue..and who knows what else!


Over the years Abby had allergy testing almost yearly. Every time something new would pop up! Some foods would be fine for a year or two and then show up as an allergen again- keep in mind at this point in Abby's childhood we "knew" she had an undefined congenital myopathy but everyone said that could not possibly be causing any of her other issues- so had to be her extreme and odd food issues. At one point her allergist admitted he had never seen a patient like her before and was worried about even trying to test her again as she would react so violently to testing.

This past year we have watched her diet narrow to a dangerous point. Yet, the bright part at this point is at 16 she is very aware of what foods she eats and which ones she needs to avoid- so much easier then those early years where she was just not old enough to articulate to me what was hurting her.

Looking back, she has always struggled with high fiber foods. She has always struggled with most proteins and fats. Simple carbs as a rule have always been okay- when she was little I swore half the issue was just that she was picky! Now looking back I suspect she was having GI issue beyond the allergies.

So, right now she is able to eat tomato- and it is a life saver when it comes to cooking for her! Last year at this time tomato was KILLING her! Abby handles small amounts of chicken, but no other meats,dairy or beans- she is sorely low on protein intake. She is down to really only being able to eat carrots for veggies. Even our beloved artichokes and asparagus(both girls share my addiction to both) are off the menu right now. Fruits she can handle only if they are well cooked, and she is limited as many upset her stomach even then.

So gluten free(gluten is hard for her to digest),bean and pea free,dairy free, low fat, low fiber(gluten alternatives often have more fiber), soy free(soy always upsets her gut, she can handle minute amounts though),mostly veggie free,mostly fruit free... but she can handle strawberries. Last year at one point she could not eat potato or rice! I was in panic mode!

Knock on wood we have found enough foods that are sticking for her to maintain her weight, though her nutrition level is diving.

We are hoping the New GI guy we see on the 1st will help Abby find some sort of supplemental drink- I have been reading and asking a lot questions about elemental formula's- which I think might solve a lot of issues and getting better nutrition in her might help her serious fatigue- but I also worry that if we make it too easy on her digestion her ability to digest anything will drop further- but 1 step at a time-

As a Mom I have always felt like food was my primary duty- from the time your baby starts nursing- the number 1 portion of our job is food. I just feel so often that I have failed with Abby on this part of the job.. I know it isn't my fault, it is her bodies issues, but since I am Abby's number 1 advocate, I know Abby best, should I also know how to feed her?

Wednesday, January 18, 2012

When to test the siblings for Mito?

This is something that has really been on my mind this last week.

When you know one of your children has Mito, do you test the siblings?

Not really a yes or no type question. Our oldest daughter was born almost 11 weeks preterm. She had some fine motor and gross motor issues which were expected due to prematurity. Now though we are "seeing" all sorts of connections which make us wonder if we should encourage her to be tested.

She has chronic constipation(would go nearly 2 weeks!), chronic reflux,(she was a volcano as a baby- 4 ounce in, 3 highly pressurized ounces back out). She has some very tight muscles. Frequent lung infections as a child. Allergies,asthma. Now we are noticing some new issues, PCOS, swelling,red,hot joints.. anxiety. But, she has great energy compared to her sister. Probably not as much as other young adults, but good. I have days where I think I have been irresponsible for not pushing for more information and I really think I might just be in massive denial that both my girls may be afflicted. Yet, she graduated U of H at with her BA in Anthropology and with honors at the age of 18. She is brillant and beautiful and feisty and now at 19 it really is more of her choice whether to go looking. I worry about her health records being forever labeled, or down the road as our laws continue to change to more invasive policies, if they would use genetic data against her. Right now she has the potential to be whatever she wants to be, we as parents worked hard to get her there. Right now, I don't think she needs the testing. Quite possibly she is my "healthy" baby, and may stay that way.. Yet, often enough we get asked, "Have you tested Sara?"...

I suspect a lot of what is on my mind right now is "empty nest". It seems to force me to think back on that stage in my life when they were little and remember the decisions we made then. I did not think it was possible to have empty nest with both girls living with me, but it is.. they think for themselves, cook, clean(iffy!), they just don't "need" me any longer. I long for the days when making a funny face would send them into peels of laughter! The days where a dandelion was the most beautiful flower they had ever seen..

We decided after Abby that we had no business having more children. Between finances and the obvious health issues in our two living girls, it would be incredibly selfish of me to have more. I wonder if our choice to not gamble on having more has made me more protective of Sara and any potential labels to her.. I am struggling with,"clearly it is an issue and we should find out" and "leave well enough alone."

We are grateful to not need State or Federal resources, despite so many financial ups and downs we have always taken care of ourselves. Sometimes that has meant the top ramen diet plan,selling the wedding bands(something so many Americans have faced this last 3-5 years)but I feel good about making it this far without government dependency. I think I often feel I have to justify to myself that we did the right thing in not having more children. If I base that decision on finances and/or being fiscally responsible then I don't have to deal with the emotions and moral dilema's that came with our decision not to have more kids because we feared bringing more disabled children into this world.. I wonder how bad our financial outlook would have been had we had more with Mito? Isn't two enough anyway? Even if they were healthy?

We have student loans,plenty of bills, poodles and dreams.. I am a little panicked that my future might not hold grandchildren(that was always the end goal-to be a valued part of our daughters lives and their children's- part of the white picket fence legacy dreams)but despite occasional pangs to feel a baby in my arms- we feel we made the right decision. For the two we already have, for ourselves, for society. So, maybe me not testing Sara is going to bite us down the road,but I have to trust our guts-so far every time we trust our gut things seem to work out fine.

We still have plans, dreams and a future- it is just a little different then the white picket fence I dreamed of in my 20's.

Knowing now whether Sara may have Mito or the potential to develop Mito won't change her or me. We can deal with it down the road, if and when we need to know. Plus, she is grown, her choice when she is ready. Yep, I think I have empty nest.

Tuesday, January 17, 2012

Mito Houston.

We have lived in a number of cities and states throughout Abby's childhood. Despite the lack of Mito/metabolic care in Houston, Houston has been the best choice for Abby.


Our last move took us to Seattle WA. I grew up there and was so excited to move "home!". It was not a good fit for Abby. A lot of older buildings which haven't updated to include accessible elevators or ramps. It is a mass of hills and mountains and any incline wipes Abby out so quickly. They LOVE stairs there and many of the homes are 2 and 3 stories of stairs. Stairs outside to get to parking lots,parks,shopping..we would feel defeated before we even left the house :-) The schools are gentle but there wasn't much offered for Gifted and physically handicapped. The allergens were hideous- how I forgot that is beyond me!! Another issue we ran into in WA was the lack of central heat and air. Abby does best in a steady climate. 68-72 is ideal for her. So the cold wet winters made her miserable, and then the month or so where it actually did break 80 up there would also drag her down. It is beautiful in WA, but not a great place for my Abby.

We lived in Saratoga Springs NY. It was close to Albany and other great healthcare that only took an hour or two by car to reach. The NE seems to have the most awareness when it comes Mito/Metabolic. However, the snow and freezing temps were not a good fit(I remember finally getting all her snowsuit and blankets on her and snapped into her carseat and would smell a dirty diaper and have to start over!). Again, a lot of older buildings without central heat and air.. and the grass and tree allergens could be explosive in the fall and spring. The summers could be just as hot and humid as they are here in Houston. The best part of the region was they were very aggressive with early intervention services- The amount of therapy we received for Abby as a toddler and the ease with which we got it likely could not be met anywhere else. We did not experience much of the Public Schools- but had a bad experience for kindergarten placement(a blog for another day).

Florida- we loved living in Orlando. Not sure if it was because it was the first place we moved away from the NW, or if we truly loved it. Nice and flat, everyone has central air and heat. Affordable. Newer and lots of old folks so decent accessibility. Lots of rotten schools though, and way back then(likely even now)limited healthcare options. Hard to find good employment as well.

Oregon- Much like WA though the Valley was flater. Portland seems to be expanding their medical programs but still limited. The schools are in crisis, the cost of living is too high(like Seattle). Allergens are high and not much for central heat and air. It is on our where we would like to retire list though. :-) Most of the state is in a state of unemployment for the past 25 years since they decided a few owls were more important then jobs for people.

So Houston- flat. Central air and heat. Public schools vary, but homeschooling and early college were easy though not cheap. Lots of newer buildings so not as many worries about accessibility. Humidity and heat are miserable, but everyone has central so less worries about her cooking or freezing when we take her places. Of course the seasons have us doing activities backwards- we do the zoo in the winter and stay inside in the summer. It is very affordable here and a mecca for decent paying jobs. Lots of Drs. Though most don't have a clue about Mito. However, Houston has a fab med center- if you have heart disease or cancer this is where you want to be. Which seems to bring a lot of agressive rockstar like Drs. to our area. They compete fiercely. It is where reputations are made or broken. Memorial Hermann and UT physicians are working very hard to expand and educate about Mitochondrial disease. I know if Abby ever got sick enough to need the ER, we would be heading to the medical center and Memorial Hermann.

So no where is perfect at least for this Mito family. Houston works though! Oh, and did I mention the food? A great gluten free restaurant in the Woodlands, a great gluten free Bakery on 1960 Champions area.. We are getting a Trader Joe's finally this spring up here in the Woodlands.. Tons of organic farmers and small family farms to get the freshest and the best. Food is definitely a bonus to living in Houston!!!

Monday, January 16, 2012

Transplants and politics and Mito?

Over the weekend on one of my Mito Groups I participate in, someone shared the story of child being denied a kidney transplant by the transplant team because of cognitive delays. I don't know the whole story but here is a link to a site that goes into the situation at CHOP in more detail;

http://www.reallywhatwerewethinking.com/2012/01/chop-denies-transplant-to-mentally.html


This story really got me thinking. As you know Abby has some kidney issues- suspected secondary FSGS. The lesion found on kidney biopsy and clinical data is what leaned her Nephrologist to this diagnosis. It would be secondary because it is suspected to be caused by the Mito. Not terribly uncommon to find kidney disease in Mito patients, but secondary FSGS due to Mito is pretty rare. Though only a few handfuls are documented in the literature, there are more patients then that and they are finding more all the time as awareness of Mito is spreading in the medical communities. For this diagnosis, there is no treatment except to try to manage her Depletion Syndrome- not what we wanted to hear.

Of course we have thought about another trip cross country to confirm the diagnosis, and we still might-but I trust her nephrologist. She is not the type of Dr. to diagnosis something like this lightly. I may be biased, but she is one of the best in Houston as far as willingness to look at Mito as part of the big picture.


I have often wondered when and if her kidneys are going to fail- there is simply no way of predicting when or if that will happen. The few other patient families I have chatted with are split- half are failing quickly, the other half seem to have mild to no progression.

So what happens if her kidneys fail? Could her poor worn out body even handle the rigors of dialysis? If she needed a transplant, would she be approved? Would any of us be able to donate a kidney to her? Would she qualify for a donor kidney? And if she did get a transplant how would her sensitive and frail body handle the shock and treatment? Frankly, we have put off having her wisdom teeth being removed as we are terrified it could cause another jump in symptoms and fatigue.. What happens if before she needs the kidney she were to get much sicker, who decides? Would she be denied and on her paperwork we find a statement that says, "DENIED due to Mito"????

Not sure why, but her issues with her kidneys have finally triggered panic in us. Maybe it was just the generation we grew up in where kidney disease was nearly the death sentence that cancer was.. now they have so many more effective treatments- and I am really ticked that with all the treatments that none of them are for our Abby. Somehow over the last couple months we have calmed down. She checks her proteins now and then and they have been terribly high for the most part. But last month despite the proteins her kidney function looked really good. I think we will ignore the sticks and stick to the blood work.

At moments I can step away from the emotion and look purely at statistical outcomes. If the likelihood indicates that doing a kidney transplant will not improve the quality of life or longevity or the patient is not healthy enough to handle the rigors of surgery and treatment, with the constant shortage of organ donors, I logically understand they must triage based on need/success rate.

However, if it is baby(my girls will always be my babies,even at 30!)who's file is laid in front of a committee who are reviewing her medical,emotional, mental status to make the final decision- they better decide in favor of a chance, of a sliver of hope.

Sunday, January 15, 2012

Crabby Abby- our "Crabagail"

I was so excited to met Kristi and Cindie and their little ones yesterday. Hannah and Lady A really brought a lot of memories flooding back for us. Abby, Derek and I chatted on the way home about Abby when she was 2-4. We lovingly and sometimes out of frustration nicknamed Abby "Crabagail" and Crabby Abby when she was the age of Lady A and Miss Hannah.

Abby for lack of a better description was a "fussy baby." She NEVER screamed, but if not asleep was always fussing. Though she never seemed to have a lot of volume(probably a muscle tone issue). From the time she was born she had very defined needs as far as her comfort. We found out quickly that she preferred me above all. Which of course I assumed she knew I had the food so it made sense! :-) She needed to be swaddled and held against me in just a few different positions. When she slept she would wake every 15-30 minutes and fuss- we figured out if we moved her arm,hand,leg, head a bit she would settle back down. It was clear she was not a mover and a shaker, she rarely moved her body and we dealt with some constipation for the first couple months until a kind nurse showed us how to make sure we moved her little body since she did not. She lived to swing- I lived in fear that the baby swing would break.. it was 30 minutes of swinging and contented baby that we could get no other way.


She did not lift her head, nor flip, nor crawl.. she finally smiled but it was a rare occurrence. Interestingly, she started to cross her eyes and wiggle her eyebrows at us when she was "happy"- talk about weird!! Of course, looking back we now realize it was her very poor muscle tone in her face that probably made smiling a lot of work for her. My hatred of Pediatricians started with Abby- I "KNEW" something was very wrong with this weird and cranky baby, but I was told, "every baby is different", or "you hold her too much,", or "she will outgrow it." Not reassuring at all! We at the time were in military housing and there were babies everywhere! None of the other babies were at all like my crabby Abby and it was clear to all of us, there was something wrong with Abby. We finally strong armed a referral to an Allergist(the Ped said no 10 times after repeat ear infections in a boob fed baby-idiot Dr!)the Allergist was horrified to hear about the Peds reluctance to refer Abby, especially when testing showed allergies to tomato,soy,corn, eggs, dairy,shellfish,nuts and more! I thought-Bingo- it is severe food allergies which is a nightmare but at least I know(this still did not sit well because despite being allergic to the moon and stars and everything else,she was a very chubby baby!). Avoiding those foods was a challenge but she seemed a little happier, though all the weird physical quirks were still with us..She actually walked at 9-10 months, but could not pull herself up.she was probably close to 3 before she figured out how to stand back without help from us or furniture .She never did put toys to her mouth and had no interest in even trying to feed herself. If you held her under her arms she would pop "wings" - her shoulder blades would splay out! She had celulite on her back.. Her chin rested on her chest. If you tried to hold her hand when she was walking her little arms would pop out of joint at the elbow.. and still the Ped fought us on a referral(we had military insurance called Champus at the time,no insurance would have been easier). At around a year old I think, we finally got her in to see a Neurologist. After all the Pediatricians denial I really thought the Neurologist was going to blow us off. After the Neurologist checked her over, she sat me down and said she strongly suspected some sort of Muscular dystrophy. Keep in mind I was in my early-mid-twenties. The only thing that I heard was "Jerry's Kids." My world was rocked to the very core that day.


The highs and lows over the years have always been extreme with my sweet Crabigail. By age 4 things seem to start working themselves out.. and crashed again at puberty.


Seeing those precious little girls yesterday took me back to my feelings when Abby was their age. At times I felt so overwhelmed, as if I had a choice in all of this and somehow I had picked this for my baby. I am not nearly as angry anymore and have forgiven the disease for what it has done to Abby(although I do have a list of Drs. I would still gladly chew out given the opportunity!!LOL). Believe it or not, I can see the rays of sunshine in our life much more clearly now. Maybe it is that I have grown up and recognized and seen the suffering in this world that I recognize that as bad as things have gotten for us, it could be so much worse. Though, I doubt it. I think those toddler years no matter how mature a person is, we as Moms are very single minded. We are setting the course for the rest of their lives in those first few toddler years. That pressure and responsibility would weigh as heavily on me today as it did 16 years ago.

Saturday, January 14, 2012

Mito Vocabulary

The hardest part of getting thrown into the Mito world besides worrying about my daughters, is the endless list of new vocabulary- it is like an instant immersion class into a foreign language!!1

So, while I have my coffee I am going to list all the new words I know I have conquered this year;

Mitochondrial Disease
Mitochondrial Depletion Syndrome
mtDNA
nDNA
metabolic specialist
muscle biopsy
PICC line
SCAD
buccal swab(not nearly as awful as it sounds!!!)
J-tube
G-tube
TPN
MRS
Mito Cocktail
CPK
Rhabdomyolysis
homoplasmic
hetroplasmic
respiratory complex(!,2,3,4,5)
hypertensive lower esophageal sphincter
gastroparesis
mutation
Mitochondrial toxic
dysautonomia
Autonomic
Leighs
LHON
Alpers
hypotonia
cyclic vomiting
eosinophilic esophagitis
myopathy
PVC's
spoon theory..
tubie(patient with tube for feeding-)
Mitovian(the citizens of the world of Mito)
So I could go on and on but these were the ones that popped up when I made my poor brain think about it. Do not ask me to pronounce any of them though!! LOL

So, the world of Mito is very overwhelming. The first couple posts you make to a support group feel almost like diving off a cliff, after a year or two you start picking up all the vocabulary and before you know it, you will start using it too!

Depending on the "type" of mito you have, your vocabulary could be very very different.. but since we all hang out together it is helpful to learn as much as you can! It would be like having a deaf child and the whole family signs, but Grandma and Grandpa refuse to learn- so when they come over to visit they really cannot communicate well with their grandchild..

Alright- you all escape too much chatting from me- busy day today!



Friday, January 13, 2012

Junk Food Friday!!!

When Abby was little she was what I call a campbell's soup kid. She really never was a big eater but she never failed to gain weight. As a matter of fact in her toddler years the nurses always said she was going to be tall like me! I am always a bit surprised to see her tiny little delicate person, 5'3" is small to me!

So, when she was 5 or 6 she noticed quickly that she was not the tiny one in class, it upset her. I admit, I totally embraced baking as part of my sworn duties as a home mom and went out of my way to fill the house with the smells of fresh cookies when she and her sister would trudge home from school- it never failed to bring a big grin to their faces when the aroma hit them as they came in the door. When I realized that her being less then thin was interfering with her confidence I kicked myself and knew I had to do something about it.-If not for myself, then for her. I was the result of generations of food addiction, I did not want to pass it on.


I had to admit I was not feeding them right. I mean, I always served healthy foods, but I also was way too free with the junk. Abby has always had food allergies, but I simply took it as a personal challenge to figure out how to substitute her allergens and still give her the junk food we loved. I also have always struggled with my own obsessions with food. My Mom was what we call a "feeder." We always had some sort of sweet around..When we were sick she always had sugar ready for us.(being sick wasn't too bad!)she had her own food issues and though she served a healthy menu(wheat germ,YUCK!)she also had a sweet tooth. Her Mother, my Gram always always had cookies,and donuts for us when we came to visit. Then there was my Dad's side of the family who practiced the anti-fat life style way before it was the trend.. a 1/2 yogurt and 1/2 slice of toast was what that Grandmother thought was an appropriate breakfast for me!!!(at home it was a personal challenge to eat more pancakes then my brothers-I know I could eat at least 5 or more) Through them though I did learn to appreciate fresh cheese curd,fruits,berries,clams,crab.. and other healthy delicacies.. What happened though was I learned to appreciate ALL food, and without thinking passed my food obsessions on to my girls.. At some point in Abby's 6th year we declared war on junk food. We came up with the concept "Junk Food Friday".


I figured complete denial of those dangerous foods would just cause us to want them more, but if we could keep our bad eating to 1 day a week we could easily sleep off our guilt before next friday. The amount of junk food we could consume on friday was shocking.. At one point I started rotating grocery stores for our forbidden purchases so the same clerks quit giving me the lifted brow as the conveyor belt hauled my food to her cash register!


Over the years we had months where the junk food friday would bled into the weekend.. or where junk food friday still happened but we did not keep junk food friday to just friday..not exactly the cure I had hoped it would be, but to my surprise,we did get something other then food awareness from it.

Today, we still celebrate Junk Food friday. It, over the years has become way more then a measure of trying to pay attention to the fuel we put in our bodies. As the girls became interested in cooking they would pick what they want to learn to bake for friday. As our income increased and we could afford to eat out, we used junk food friday to go out and eat and explore Houston. Throughout the week we would share recipes or wants with each other.. Junk Food friday became a family holiday. After all these years it has become our day of the week as a family.

This past year Abby's stomach hasn't allowed her to participate in Junk Food friday with the passion of the past..at first I really resented her stomach taking this day away from our family. I did not blame her at all, but I did feel a bit of grief on Friday mornings.. Fast food is mostly out of the question for her.. though she can handle nibbles of different sweets(simple carbs digest easy!) but without the gusto and joy of previous years.. her list of allergens,sensitivities and foods that cause her stomach to shutdown or overwork her bowels has pretty much stopped her participation. Or has it? When Sara bakes thursday night, Abby sits and chatters with her. When we decide where to eat they seem to always have chicken.. and when Friday evening comes, no matter how tired or sick Abby always finds the energy to come and hang out with us while we munch and try to find something to watch together on TV. So even though Mito rules her tummy right now, we won't let Mito take our Junk Food Friday. I hate to say it, but somehow I think Mito might have actually shown me that Junk Food Friday wasn't about our twinkie cravings, but more about our cravings to enjoy spending time with one another.

Thursday, January 12, 2012

What is a Mitochondrial Depletion?

I remember when the Neurologist called and told my husband they found a depletion, I had never heard of it.

Took us awhile to figure out if it was a "depletion" or a "deletion.". But it was a Mitochondrial Depletion they found in the muscle biopsy.

This is how we describe it.


They made the 1995 ford Taurus. They all looked the same. You buy one, and 1/3 of the way home you run out of gas. Turns out, that the factory made a mistake and the Taurus you bought only had a gas tank 1/3 the size of what it was supposed to be.

Abby was born with only 1/3 the ability of making energy in her body of what everyone else has..

There are a lot of questions for us at this point. We wonder when she was born was she able to make more and her ability to make energy has become less as she gets older? Or is she still making the same amount of energy as she did when she was born, but fueling a full sized body with the same amount of fuel is now taking it's toll and causing wear and tear damage? Does she have some other disease process that interferes with her ability to make enough mitochondria? The scary thought is, will her gas tank continue to shrink? There is something referred to as the threshold effect.. from what I understand things really start to malfunction and shutdown at the 20 percent mark.. No one can survive without mitochondria. Depletions are diagnosed when you have less then 50 percent of what you should, though usually not until the 1/3 level like Abby.

I am going to try to struggle through what I know about depletions- there isn't a lot of literature available to patients, so we are a little slow in truly understanding this completely- we are getting there though! :-)

There are a number of types of Mitochondrial depletion syndromes. I believe there are a total of 8, but really only 3 types are found in the literature. The most common is the type that effects the liver most-having that type is usually fatal in early childhood.

There is a type of depletion due to medication. Some medications can cause your mitochondria to be unable to replicate. I believe, there are also other types of disease processes that can cause a depletion- so you don't necessarily have to be born with a depletion like Abby.

Then there is Abby's type which is most prominent in the muscles, called Mitochondrial Depletion Syndrome,Myopathy. Sometimes you will see abbreviations- MDS, or MDDS.

Currently, the only way to diagnose a Mitochondrial Depletion Syndrome is through either a muscle biopsy or liver biopsy. Abby's was found in her second muscle biopsy(back in 1996 when she had her first, they did not really know about mito yet). We are lucky to be in Houston where her second biopsy samples were studied through Baylor. I have run into a couple interesting documents online from Dr. Wong at Baylor about their interest in depletions.

If you search the web, most of the information on all types of Depletions indicate a very poor survival rate(teen years at best). So, we were terrified at first. Since then I have learned that there appears to be a small population who like Abby have some serious good luck and have had a milder course with their disease. We have chatted with a few 20 somethings that are hanging in there, and even read about a Mom in her late 30's who despite her body really struggling now is still plugging away. The difference between Abby and even these patients is Abby seemed to more symptomatic as a baby, and these patients seemed to not get sick till they got older.


We have also learned that the level of depletion can vary organ to organ, body system to body system. So, in her muscle she may be at 1/3 of where she should be, but it is possible her brain is fine, or her heart or liver. In Abby's case her kidneys have shown disease process- which we don't know if it is because the kidneys are low on mitochondria,or because other organs are low they are causing additional wear and tear on the kidneys. She has problems with her bladder. She has a poor immune system. She has some GI issues that are getting worse. As she is getting older, more and more issues are popping up- again, our question,is the level getting lower or is it still the same but we are seeing her wear out from an adult bodies need on 1/3 of the energy.. I think that she has probably stayed at the 1/3 level, but because that is not enough energy to keep her organs healthy they are aging(for lack of a better word) more quickly then they should as they are not being fueled properly.

Mitochondrial Depletion syndromes are known to be caused by mutations in your nDNA. There are 11 different mutations they know cause Depletions, but Abby doesn't have any of those mutations. They(researchers)are discovering new mutations daily at this point, so the hope is sooner or later they will figure out which one of Abby's nDNA are responsible. We know that depletions are caused by issues with the mitochondria's ability to replicate. Some types of Mitochondrial disease are due to replication, but there are lots of other things that can go wrong with your mitochondria besides issues with replication.

When talking research it appears that the mechanisms of depletion make it mostly likely to be cured first. Which gives me a great deal of hope. It will also interest the big pharm companies- if they can figure out how to induce mitochondria to replicate they could possibly create a pill to slow aging- and wouldn't that be something?

When I step back and try to put myself into the shoes of a Researcher- this is a very exciting time! We are now finding that mutations in our mitochondria are connected to all sorts of diseases including cancer. Literally, it is a weekly event to read a new breakthrough has been found in this field of bio chemical research. As a Mom to a mito patient, I can only stand on the side line and cheer these researchers on!

Wednesday, January 11, 2012

Mito Everywhere!

Everywhere I go, I see Mito.


If you tell me about your drooping eye, aching back and UTI- guess what? My first thought is "You have mito!"

If I see a little baby and it is all squishy and not moving around much- I think "that baby has Mito!"

I hear about a little boy who has cyclic vomiting and fatigue- and again I see Mito.

I have flipped through every family member I know(and I am related by blood and marriage to 68 percent of East Texas, and that is only from my Mom's Fathers family)and I see Mito everywhere! My father died young of heart disease as did his Father- well it must have been Mito. My Mom had a bunch of digestive issues, and depression and died young from cancer- again all I wonder is "did she have Mito?"


It has become obsessive. This holiday shopping season at the mall,I found myself paying as much attention to all the babies in their buggies as to my shopping list. I sized up their eyes,their muscle tone,their size, their personalities- wondering each time I saw something unique- if that could be Mito.

Even walking at the park, or grocery I look at all the people around me and wonder, will they have Mito? Have they gone to their Dr. for the fatigue, the pain, the weird symptoms.. has their Dr. misdiagnosed them, or ignored them? Is the potential for Mito hiding under that healthy veneer?

Really, it is getting annoying and a touch alarming that I see Mito everywhere. I suppose since it hasn't even been a year since we got her diagnosis that this is likely part of the whole acceptance process. My friends must be ready to strangle me!!

The estimate is 1 in 4000 people will develop Mito. I am lucky to see 100 people in any given week. Odds are, that fussy baby I see at the mall and think has Mito, probably just needs a snack and a nap!


For now I suppose I will still be staring at people around Houston and wondering, "Do they or will they have Mito too?"

Tuesday, January 10, 2012

Tuesday Toenail!/ Toenails and Mito?

Until the year before last I had no awareness of my toenails with the exception of keeping them painted.


Abby's toenails actually just stopped growing for a month or so- when they started growing again there was a 1/2(or more) inch gap between where they started and where they ended and started growing again. It was one of the oddest things I have seen a body to do, and even the Dr.s we saw thought it was quite curious!

I have dredged the internet looking for something that makes sense. Below is some handy information on fingernail and toenail health;(via webMD

)What Your Nails Say About Your Health

"Just like the eyes are the window to the soul, so are the nails," says Tamara Lior, MD, a dermatologist with Cleveland Clinic Florida. Lior says she once convinced a patient to have his lungs checked after noticing a bluish tint to his nails, a sign that he wasn't getting enough oxygen. Sure enough, he had fluid in his lungs.



Even common disorders like thyroid disease can cause abnormalities in the nail beds, producing dry, brittle nails that crack and split easily.

He lists the following 10 examples of nail changes that could indicate a serious medical condition.

What Your Nails Say About Your Health:
10 Possible Signs of Serious Conditions
Nail Appearance Associated Condition
White nails Liver diseases, such as hepatitis
Yellowish, thickened, slow-growing nails Lung diseases, such as emphysema
Yellowish nails with a slight blush at the base Diabetes
Half-white, half-pink nails Kidney disease
Red nail beds Heart disease
Pale or white nail beds Anemia
Pitting or rippling of the nail surface Psoriasis or inflammatory arthritis
"Clubbing," a painless increase in tissue around the ends of the fingers, or inversion of the nail Lung diseases
Irregular red lines at the base of the nail fold Lupus or connective tissue disease
Dark lines beneath the nail Melanoma


Here is a link from Mayoclinic- it has pics so I decided in case folks get a little queasy like me I would not post the pics! http://www.mayoclinic.com/health/nails/wo00055&slide=7

The closest thing to describe Abby's issue is a severe case of Beau's lines(Great link- http://www.aafp.org/afp/2004/0315/p1417.html. ) She also had odd pockets of granuloma tissue around her cuticles- that oozed the oddest discharge- it looked just like earwax!!! We were completely fixated and horrified by her toenails for over a year.

She did see a couple of podiatrists all over Houston but- no infection,no fungus, no cancer and no answers! They said that since it was obvious they all died at the same time the only thing they could even guess is her body was so stressed it had a temporary brown out-Her body cut off energy to her toenails temporarily in protection mode.. We knew she had been really sick with back to back colds and infections from trying to attend high school, but the toenails told a story of just how sick she had been.

I am happy to report that her toenails are growing again! All of them. They still have a lot of lines and some discoloration, and her cuticles have some red spots here and there, but no one but us would ever know that her toenails just went through the weirdest transformation. Unless you look closely, they look so wonderfully normal! Maybe this means that bounce we are waiting for is just around the corner!


Monday, January 9, 2012

Allergies-

At almost every turn of Abby's Mito journey her allergies have played a part.

When breast feeding and she would start crying after a few minutes of latching on, we decided her poor nursing was due to food allergies. It was partially responsible but looking back her poor muscle tone in her face was probably the bigger issue- but we blamed allergies.

When she was sick with cold after cold, ear infection after infection, we blamed allergies. Which probably were partially to blame, but looking back I wonder if it was more to do with her immune system.

When she was 2-5 and was fainting in the heat, not having the same energy as the other kids and dealing with leaky bladder and what we thought were UTI's- we blamed her food allergies- no one had offered us any other explanation, so we blamed allergies.

When she was 5 we had a cat for a year, she had terrible rashes, stomach pains,constantly ill and again we blamed allergies- our Allergist even convinced us to sell our house because he was afraid the residual cat dander was keeping her sick..


Whenever she had a rough year at school being sick and tired back to back, I blamed allergies- all those kids with horse,birds, cats were dragging their allergens in on their clothes.. so we had the Teacher put her away from kids with pets..

When she had weird or odd reactions to medications we blamed allergies- though we were bewildered she could allergic to the medicines they use to treat the allergies!

When they tested her lung function and it was always lower then normal- we blamed allergies.



When we moved to Seattle at age 10 and she ended up in so much pain and so tired, and they still could not find anything else, we blamed her allergies. She was allergic to cedar, so that had to be it right? Looking back that was when puberty hit..

So it seemed that in both Houston, and Seattle she was struggling with allergies...

I cannot even tell you how many food diaries we have kept,how many types of allergy free diets we have followed, how many places we have avoided(the zoo is a giant allergy with all the fur and trees and shrubs and grasses!)Granted, we have enjoyed a lot of foods before they were "cool". Did you know that the fats in avocado are great for your brain and muscles? We ate fish 2x a week for the oils eons ago, we at artichokes, quinoa, steel cut oats,etc.. sometimes it seemed to help, but now I wonder how much was placebo effect?

We even tried to blame her scoliosis on allergies, after all, she had been in bed so much, so maybe all the laying around from the allergies caused the scoliosis, no one had offered us any other explanation, so we still blamed allergies.

When finally her kidneys started to get sick, I TRIED to blame allergies. We went gluten free,MSG free,box free,frankly I was thinking we might have to start grazing as we were running out of food options, but her kidneys were still sick- finally, the Drs. agreed- this isn't allergies.

I have always wondered if allergies can cause this many issues(and they can)why don't Drs. acknowledge the "whole body" concept? Over the years I have found that Family Drs. and some internal medicine Drs. will wholeheartedly agree that one body system in poor function impacts the next- a good example is flat feet. Our oldest has flat feet and I KNOW it caused her back to ache- the Podiatrist agreed and so did the family Dr- however the spine specialist said no way! In his world the body began and ended with the spine..

Since finding Abby's Depletion in her muscle biopsy and we have seen different Specialists for different systems, they tend to stay only in their organ of focus- when you see a Mito specialist however, they think more like a family Dr. They totally understand that when you have 1 system down odds are it is going to cause havoc in the next system. Why is the whole body concept so difficult for the Specialists?

So, can we blame allergies for a lot of Abby' issues? I still think so,out of habit or because we really do see some improvements when we juggle her foods. When we manage to tame the allergies, we seem to give the other issues some relief. Allergies steal a lot of energy. I certainly do not regret paying attention to her allergies, not sure I can blame them anymore though.

If specialists would think outside their speciality even a little, I have to wonder if we would have quit blaming Abby's allergies years ago.

Sunday, January 8, 2012

Hope

We having been patiently waiting for Abby to "bounce" again. She did slowly bounce once she made it through the toddler years. Now since we are well past puberty we are still hoping for the "bounce."


Some mornings when I wake up, I have all the hope in the world! Or the days she has a sparkle to her eye, or what I recognize as a high energy grin, or you can just tell by the way she putters around that her engine is revving!

Other days, when she is dragging, when her stomach is miserable and she wanders out to say good morning on wobbly legs,grabbing the counters to balance or rest on her way out, I just want to cry. The doubts roll in, and I hate to face it, but the fact is, she has slowly faded bit by bit over the last couple years.


Is it realistic of me to hope for another bounce at this point? Or maybe I should be preparing to change my direction and focus more on treatment to slow the progression instead of treatment to get her to bounce..


Fact is, a great big part of me REFUSES to accept this diagnosis. In the world of Mito since there are so many variables, there is plenty of wiggle room for denial. I accept they found the Depletion and I "get" the problems that causes, but I don't accept it yet, can't be a primary issue, I keep leaning toward that this is a secondary issue. My "Hope" is entangled in the concept that despite the huge strides in the study of Mitochondrial Disease they have so much to learn still. My mind is constantly trying to connect the kitchen sink to Abby's diagnosis, I keep replaying over and over the steps we took when she got better the first time as a toddler, I know we have taken those steps plus many more yet, I still feel her sliding down the cliff.. I curse my lack of science education, I am so frustrated that I simply do not have ability to make the intellectual jumps to change my "gut" feelings into scientific based theories. I want to steal the mind of a great Dr. for just a few months, maybe it wouldn't lead me to a cure, but at least it would allow me to feel like I truly understand the science and would relieve some part of my frustation.


In the last couple months I have found a lot of Mito families to chat with- it is a joy and at the same time awakens a lot of uncertainties. As I learn their stories and about their Mito journey, I also learn exactly how bad things could get. Every once in awhile I hear about a child making a bounce and I gain my hope again. Sadly, I have heard far fewer stories of "bounce" and a lot more of decline.

I guess part of our issue is the way that Abby declines. No trips to the ER, no major scary episodes that clearly label it as "decline" or "involvement".. more a slow and gentle fading.. It is like something is stealing her vibrance bit by bit, and at times she becomes just a ghost of who she was.. There is simply nothing that any Dr. could fix- there is no cure for "fading out."

As I am sitting here, I hear her giggling somewhere in the house, and today is not a good day for her- and Hope has flared once more.

Saturday, January 7, 2012

What Social Life?

This is something that Abby and I talk frequently about and I think it is a sore spot for many.

Abby often talks about how friends simply cannot fathom being too tired to talk, which is a frequent reality for Abby.


We are Abby's social life right now, and the few Drs. visits we take her to- Can you imagine considering a trip to the Dr. a "social outlet?" Abby for years had some good friendships and heaven knows she is one of the most likable people you will ever met, but for the last few years she often has had to decide between emailing a friend or eating. The few friends that Abby has maintained friendships with are mostly online-and she cherishes that each of them is willing to accept if not understand her overwhelming fatigue.

She has shared how "normal" people for the most part simply cannot grasp that you actually can be too tired to talk. She has tried so hard to maintain friendships, even online friendships but after a teen not hearing from her for weeks they assume she is not interested in continuing a friendship. For the most part, Abby totally understands. She is the first one to point out that if the majority of the Drs. she has seen simply cannot understand or refuse to understand that the Dr. appointment she is at for an hour likely has cost her two days of heavy sleep,a week of skipped showers and missed meals, so how would a normal healthy teen even begin to understand?

Recently, we have found a lot of young adults with Mito on facebook and other groups. Yet Abby seems not interested in establishing any friendships. We have had a lot of great Mito families with teens reach out to us and Abby and Abby hasn't tried to establish friendships. I asked her about it and she said that the very fact that they had the energy to find me means they have more energy then she does, and odds are they too won't understand that Abby for weeks at a time is too tired to talk or type. Abby and I figure there are probably others like Abby, but like Abby they are too tired to make themselves known.

It breaks my heart that this fatigue has stolen people from Abby.

Some tiny part of me though is so grateful to have Abby's energy moments all to myself and our family. Greedy-yes, and I don't care. They are becoming more rare and we cherish every one of them. I am one of those people that crawls out of bed at 4-5am but am a total bear until I have digested at least 2 cups of coffee.. Abby will wait and come and chatter with me for an hour- I covet those chats, I covet her smiles. Abby's best friend is her sister Sara. Sara has delayed Grad School this year to be with her sissy. When the girls were little and would play I would get such joy out of listening to their giggles from another room. Now when I hear them stealing across the hall to each others room, or chatting on skype with friends, or Sara running to find slippers for Abby' frozen feet,cooking for Abby, cleaning for Abby(without complaint mostly-they are sisters first!)I am overwhelmed that I have two of the greatest children on the face of planet.

As Abby and Sara have gotten older we are moving from just a parental role to a deeper fuller relationship that is a true and deep friendship. I remember my teen years with a mix of joy and embarrassment(I was wild and rotten!)but I mostly remember the moments of high energy, with a group of teens where we felt we could conquer the world,those hours where we were invincible! I would almost get high off the energy a group of teens could generate. I grieve that Abby hasn't been able to experience that...but I rejoice that I have such a neat family that we have all grown to fill the roles that normally friends fill.

To all our friends and family that understand Abby or work so hard to be patient with our hermit lifestyle- we love you guys! To those that don't, may you continue to be graced with healthy bodies where you will never be forced to understand.

Here is the link to the Spoon Theory- it is very popular in the Mito crowd as so far it really does the best job explaining the day to day life of a Mito patient.

http://www.butyoudontlooksick.com/articles/written-by-christine/the-spoon-theory-written-by-christine-miserandino/

Friday, January 6, 2012

I don't understand my Health Insurance-


One of the topics most of us in the Mito World touch on pretty frequently is Health Insurance.

Some of the policies they have just don't make a lot of sense, and in some cases cost the health insurance is more in the long run.


Example- We have tons of allergies in our house and lots of oddball allergies. Most of us have asthma triggered by allergies. We use the inhaler Xopenex. I try to keep an inhaler in the car, in my purse, in the girls purses- we just have no idea when we will be exposed to a trigger. At times we can go months, and we have periods where we seem to react to everything. Our insurance will only cover 2 inhalers a year. They feel if you need more then 2 emergency inhalers then you need to be on other medications for asthma too. This is ridiculous. We don't need daily medication. Daily medications like a steroid based inhaler can cost the insurance over 200.00 a month! Also, they will cover an unlimited amount of Xopenex for the nebulizer- so in one breath they say if we need more then two inhalers a year we are not caring for our asthma, but in the next breath they give us the same medication unlimited just in a different form. What is the message here? I think they are idiots. They must make deals with the pharm companies- what else makes sense? Do they really think I need 200.00 of additional meds a months? (xopenex inhaler costs 50 bucks out of pocket give or take) If I put inhalers everywhere we need them in the house and cars and school we only need 4 a year- that is 200.00 over 12 months, but if I take the meds they think we need the bill would be 2500.00 a year and I would be over medicated and still need the extra inhaler for triggers. Also, why do they give us unlimited xopenex for the nebulizer? Surely that adds up to more then my 4 inhalers a year, if they justify the limit on inhalers by them saying our asthma is uncontrolled, would the same be said for the same medication given a different way? Do they think asthmatics should all stay home by their big old plug in nebulizer if they want to breath?

I have heard similar stories from many, many families- and some really scary situations. Recently a Mom talked about how her Mito child had very compromised nutrition and their labs showed poor nutrition, but the insurance won't cover any interventions until the child has lost 20 pounds. Seriously? You don't have to be anorexic to warrant concerns about nutrition. I know I have been reading lots of articles recently about how many obese Americans are in some stage of mal nourishment(2012 the War on fat)- they have proven that a poor nutrition status is far more damaging then being too thin or too fat- especially in a child that needs proper nutrition to grow and develop.

Even the wheelchair for Abby did not make a lot of sense. They did cover the majority of her beautiful chair. One of the features they would not cover was the straight up lift- it allows her to go high enough to get into a cabinet in the kitchen, or be able to reach her own groceries in the store, or grab a book at the library- without it, she would have to depend on the kindness of people around her to make her life closer to functional- Isn't the purpose of the wheelchair to give her the ability to lead the most normal life possible? To me it is a no brainer, but to the insurance company I guess they want to make sure the user of the chair is reminded they are disabled- why else would they deny something so essential?


There are far worse situations I have heard of... and it leaves me worried. So far for the most part our insurance has been quite good to us. I worry though as Abby's health needs become more complex, what battles lay ahead?

As there is a need for Medical Schools to get their act together and teach Drs. about Mito, there is also a need for Insurance companies to learn about the needs of Mito patients. Mito patients need very different care, and I hope if the insurance companies understood they could SAVE money in the long run by covering certain needs that they would be more willing to provide the coverage.

I don't see it happening any time soon though- but I can hope.
 
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