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.

Saturday, May 31, 2014

And It Begins....(Again)

At least that is the way it feels.


After a bit of rescheduling on our part Abby is seeing a new Dr.


Long story short we have always felt the depletion is a secondary issue. Call it gut instinct, call it she simply doesn't fit the Mito picture, call it denial, but at the end of the day she despite lots of little issues is pretty darn healthy for a 19 year old with a depletion- so then, what is the primary? I would love to say that all of my extreme efforts are the reason she is doing so much better then you would expect, but if that was the case many Mito patients would do a lot better. So she has to have something else going on either her very own blend or something that has been missed.

For a patient it is VERY important to know what is primary and what is secondary. We now know that most diseases can cause Mito dysfunction. The treatment protocols will be different. You don't want to treat the wrong disease.

This new Dr. may or may not bring the answer, but hopefully at least some more clues. I have a lot of feelings about Drs, and most pretty conflicted. I am finally growing up enough now to understand that it is not fair of me to expect them to know everything, no one does.


Abby has had a lot of bad experiences, but really a lot of good Drs too.


After years of this I feel like we all have to kind of pump ourselves up to handle a new approach with new Drs. You organize your records(well I don't but I try to make sure they are all together) you print off pictures of oddball behavior,rashes, etc. You sleuth the internet trying to see if there are patient comments about the new Dr. You figure they sleuthed you too so I know they are hopefully prepared for my stinky cheese self.


Hopefully, Abby feels up to steering this appointment. Usually Abby doesn't say much. Mostly because by the time we get anywhere she is using all of her energy to hold herself together. Sometimes she does but over the years kind of felt it was pointless. Of course I tend to bulldoze, we call it the mighty data dump, I feel the need to tell each Dr EVERYTHING.. I always hope that if I list all the crazy and weird symptoms from over the years that eventually a Dr. will hear it and have a "Bingo!" moment. Clearly that has not happened so I am making an effort to only give the headlines from the early years, and hopefully Abby will be up to covering the last 10 years.


Part of me is so hopeful that this Dr. will figure it out. That their perspective is on track. More then that, if they don't figure it out, will they be willing to keep hunting? Even Abby's best Drs. seem to hit a point where they cannot help anymore. Where they won't/can't keep flipping stones. I get it, I know they each have only so much training, but each time we hit the end of the road with a Dr. it is like we free fall until we can find another to flip some more stones. There are days when I wake up and it is like I am on a beach and for as far as the eye can see there are millions of rocks to flip and until I find one with her name on it, I need to keep flipping. Somedays it is disheartening, who could possibly flip all those stones? Then other days I feel lucky like today will be the day that I flip the right stone and get the answers we have been hunting for the last 19 years.

Realistically? The odds of finding something treatable are slim. Even worse the odds are getting slimmer that we ever pinpoint what makes Abby's body so unique. I just need to know. Abby just needs to know. In so many ways she is so lucky. Whatever this turns out to be it hasn't affected her brain, on the other hand having a healthy brain trapped in a body that won't cooperate with her brain is frustrating.

My gut says to keep looking. My gut says if we can just figure out a little more I can either help her maintain better or possibly improve enough or understand enough to help her live more fully. There will always be that hope that whatever is wrong is something a single pill, or a new diet could possibly treat her and make her better. I would probably feel less disheartened after various appointments if I would accept that may not happen but if I don't stay hopeful, who will? She is worth far more then just accepting a prognosis that only brings heartache.

Am I too invested? I note a lot of other families seem to see a lot fewer Drs before accepting a rough diagnosis,and some just even 1(gasp!)and accept rare and devastating diagnosis's- I cannot fathom doing that.. maybe I am the crazy one for opting to fight tooth and nail vs acceptance. Maybe I am nuts for raising my family to focus on the weakest before focusing on their own lives. We all put Abby's needs above our own. Without Sara with Abby so much, life would be so much more isolating for Abby. Sara is truly Abby's best friend. If Abby cannot go somewhere none of us go. We are like a family Marines- No Man Left Behind.

A lot of our friends have busy social lives. They travel now(when they have adult children) they are active outside the home in many activities they enjoy. If Abby could have that too? I think we would do more. The thought of her being left out and forced to cope with the alienation brought on by bad health is just wrong. Maybe that is why Derek and I keep hunting and keep trying to figure it all out, if we figure out Abby it benefits all of us. At the same time, we have benefitted from our "No Man Left Behind" approach. Our lives are incredibly rich. We have a bond between the 4 of us that is unbreakable. The friends we do have that accept that we live the way we do for Abby are better friends then I ever thought I would have in my life. We make it work. We will keep making it work. Fact is if it is a progressive disorder our choice to focus on her will be twice as valuable. We will have been able to enjoy every single moment, with no regrets that we left her behind to live our own lives. That makes the practice of flipping stones far more rewarding and right.

So it begins, we are on the hunt again. All the Drs she has seen have offered very important findings, all those little pieces of the picture will eventually allow a Dr. to see the big picture.

At around noon today Sara will turn 22. Each of their birthday sends me down memory lane, through the years from their beginning and mine. They were both so very different. Sara born a little shy of 30 weeks and Abby at 42 weeks. Sara I swear came early because she is just too far ahead of the rest of us, I am guessing the womb was a very boring place. At 6 months she was speaking and by 2 she was reading, she has always moved forward at lightening speeds. She amazes me. From correcting my awful grammar to fixing my computer she is rare and unique and I pinch myself often wondering how lucky we are to have her. When she was little I remember being sad that she seemed to not need me. I know now she did need me, but differently. I needed to kick in doors for her so she could move even faster! She still needed me though just differently then Abby. Abby did not want out of the womb and was the opposite in all ways to Sara. She was more then happy to stay close to me, she did not need to be in the middle of something to learn, she was the wise owl from my arms. I have no idea when she started reading. I remember walking by her room before she turned 4 and heard her reading aloud, but she would not do it front of me, I swear she knew that I savored those hours reading aloud to her and in her unusually wise ways figured it was better to keep her reading to herself. She doesn't chase life like Sara but she waits for it to come to her. 22 years ago when that tiny tiny Sara came into this world I could have never ever guessed that I was going to be the lucky Mom to have such unique and gifted daughters. Derek and I tell the girls all the time, without them we would have nothing.

So, turning a new page, another birthday passes for Sara and a New Dr. for Abby- a new adventure for another year.

Feeling more centered this time around. Actually, feeling quite fortunate for once. Maybe I am not as stinky as I used to be! :-)

As it begins hopefully I will remember the lessons I have finally learned and even better perhaps this might be the missing piece to the puzzle.

I cannot wait to flip that final stone.

Tuesday, May 27, 2014

Cupcakes filled with Peaches(gluten free, dairy free, corn-free, soy free, chemical and color free)


The peaches are getting ripe finally and we have been craving cupcakes, the perfect combination.

Abby is feeling better for the most part and is recovered from her shopping trip. We apparently picked up a stomach bug which we have managed to share. sigh. On a positive food is staying down, just not staying in! Which means very easy to digest food is on the menu. On a positive though we are always happy to find an excuse to up the simple carbs around here.

We planted a little peach tree and have been enjoying watching it grow and it has been driving us nuts to wait and wait and wait for them to ripen!


This is just a basic cupcake recipe but figured I would share. They have a nice spring to them and tolerated having the centers cut out well. We diced and cooked some peaches with sugar and spice which I thickened a bit with some agar to fill the cupcakes. I pureed the leftover spiced peaches and added them to some plain vanilla frosting(corn free powdered sugar, palm shortening, coconut milk,homemade vanilla extract,dash of salt). They were easy and quick, and tasted wonderful.


2 1/4 cup all purpose gluten-free flour
1 teaspoon salt(still using pink himalayan)
1 teaspoon baking soda
3 teaspoons baking powder(1 tsp tapioca starch,1 tsp baking soda, 2 teaspoons cream of tartar)
1 teaspoon guar gum(so far so good with the NOW brand)
4 eggs
1 cups sugar(domino's)
1/3 cup mayonnaise(homemade,egg yolk,grapeseed,Braggs ACV,dash of salt)
1/3 cup grapeseed oil
1 cup coconut milk(or other milk)
2 teaspoons gluten-free/corn-free vanilla extract(make your own, vanilla beans in potato vodka or grape vodka)

(cupcake papers- I use some that are just shaped parchment paper. Many cupcake papers are corny and made with colors/chemicals that need not be touching my food. )

Preheat 350

1) Mix all the dry ingredients.

2) Add the wet ingredients. Mix well.


Fill cupcake papers about 2/3 full. Bake for 14-17 minutes until baked through.


Allow to cool. Cut out centers and fill with desired fruit. Frost.


Friday, May 23, 2014

Gold Sauce (soy-free gluten free,corn-free, chemical free "soy" sauce)



When you start eliminating corn especially hidden corn you learn very quickly you have to remove all store bought sauces! No mayo, no ketchup, no mustard etc.. I have slowly been figuring out how to make each sauce we miss.

Soy Sauce, well Abby has had a soy allergy off and on over the years and definitely has an intolerance for it. Plus, I don't think there is a corn-free soy sauce on the market. We were able to use Coconut Secret's Brand Amino's for Abby, which are tasty but since she has struggled with ferments she doesn't use it often.

Derek is sorely missing soy sauce. He is okay with coconut secrets coconut amino's but not completely sold. There are a few gluten-free soy sauces but he isn't tolerating those well either. I recently read about folks making their own Soy Sauce on a fermenting group. Many opt to use black beans, so I figured why not chickpeas? Our house is just a little obsessed about all things chickpea which makes the thought of a Chickpea "soy sauce" sound very interesting to us.

I am trying to make it 2 ways. 1) more controlled by introducing koji(fungus ordered it for miso making) and 2) via wild fermentation.

For the first batch I inoculated the cooked chickpeas with the koji and then dried, then brined the chickpeas. They are a couple weeks in and already starting to smell like soy sauce.(Pictured in the jar they need to be in the sunshine to ferment the cover is off and covered with fabric to allow air now)

Today I started the wild ferment version. I cooked the chickpea's till mushy, and then kneaded in some chickpea flour to make a dough(no measurements just till shapable)I sliced the dough and now need to keep them lightly covered and warm and moist until the wild mold sets into the slices. That should take a little less then a week. Then the slices are dried(in the sun or low temp dehydrator) then you toss the dry,moldy slices into a nice salty brine and out to the sun they go. What could possibly go wrong?

Derek and Sara are already trying to figure out how to get out of having to be my taste testers! But I have a really good feeling about this chickpea sauce hopefully in a couple months we are going to be happy with the sauce and knowing it is non-gmo and no other potential contaminates have been added.

Will update hopefully in a week with a picture of scary moldy looking slices of chickpea dough!




Tuesday, May 20, 2014

Candied Salmon and Herbed Coconut Yogurt Cheese


I grew up in the NW eating my weight in salmon. "Candied" salmon was always my favorite and Sara and Abby's too. Though we can make the candied salmon corn-free we have found the histamine load is too much for Abby. However, the rest of us continue to enjoy it. Curing salmon is a piece of cake.

Candied Salmon:

Salmon(for the corn sensitive caution,often rinsed in corny agents)
salt(we use pink himalayan but use what is safe for you)
Dark brown sugar(we use domino's )
local honey.(make sure you trust your beekeeper-some feed their bee's corn syrup and even worse some cut honey with corn syrup!!)

In a plastic container place salmon by layering fillets. On each layer liberally sprinkle with salt (salt is what forces the moisture out of the salmon and helps "preserve" if you opt to use less salt you will need to eat it quicker! )then 3 times as much dark brown sugar. Keep layering. My container looks like salty fillets barely peeking through the packed dark brown sugar . Before putting the lid on it generously pour some honey over the top then seal tightly. Place in fridge overnight. The salmon should be very firm/stiff and will have turned a deeper color in about 8-12 hours. I smoked mine with hickory for about 4-5 hours in my hillbilly file cabinet smoker. I then place in the oven on 350 for 15 minutes to make sure it is "finished". Seal it up and chill well. Delicious and salty and sweet.. What you don't eat in a week will freeze.


The "Cheese" Spread in the picture is coconut yogurt cheese, easy.

1 1/2 cup coconut yogurt(I make it homemade)
muslin(cotton)
strainer. (I use a yogurt strainer basket I bought on amazon)

I line the strainer with the muslin cloth(sometimes I wet it, sometimes not. )

I pour the yogurt in and tie up the cloth. I allow it to "drain" overnight on the counter. In the morning I will squeeze the muslin bundle and the whey will separate and stream out leaving the the good stuff in the muslin. Place it in the fridge for a few hours.(I leave it in the muslin, easier to scrap it off the muslin once it is firm) Once chilled it will firm up to a spreadable cheese. If you want it even dryer you can allow to drip longer. I added some salt and dill to the yogurt cheese and that was it.

The crackers are the buckwheat Le Pain des fleurs crackers. Abby doesn't eat them often but we do keep them for emergency snacks in the car. With just 3 ingredients(buckwheat,salt,sugar) they are at least corn-lite.


And We Shopped.

First time in a couple years we took Abby out simply to shop. Not for a Dr. appt, Not for the Dentist, but 2 hours of blissful shopping.


When she asked to go, I think I for a moment thought I was hearing things. Boy, did we manage to get dressed and out the door in record time.

What motivated her was she wanted to help me. I admit I am clueless with clothing, I mean I do okay for myself now that I am older but something about teen/early 20's confuses me terribly. I insist on buying shoes and clothing as gifts for the girls each holiday. Used to be when they were little they were welcomed gifts. As teens I think each holiday they pray that I asked a trendy salesperson to pick out the clothes or somehow I bumped my head and finally figured it out! Sadly, it has been about 3 years since poor Sara has been able to wear what I buy. She always loves it, but I think it kills both her and I a little inside to shove the unwearable item to the back of her closet. I have been moaning and groaning and fussing for the last month about how I wish Abby felt well enough to come help me. She took mercy on me. She went out knowing the odds were she would feel badly, to help her sister and I break the cycle of bad gifts. :-)



Remember that feeling when you took your newborn/infant out ? That feeling of bursting pride, joy, showmanship? That is exactly how Derek and I felt. It was the best 2 hours we have had as parents in many, many months.


Wheelchair,mask did not slow us. We wanted to make every moment as enriching as possible.


It was kind of funny really though. She wasn't that impressed! LOL She does all her shopping online and having the entire world at her finger tips for selection made a singular shop almost flat for her. :-) She has Asian and European boutiques she loves so I can imagine that the offerings of one shop were limiting! :-)


Yesterday she woke up "sick". Flared, reaction, or sick? Not ever sure but she is as usual paying for the excursion. Not as badly as she has in the past,though still a little early to tell. After we got home from her shop, our house bubbled with the excitement well into the evening. Despite her fatigue written on her face her eye's sparkled with the "adventure."


Was it worth it? I don't know. She hasn't decided yet. I suspect it will be a long while before she does it again. It was enough though.

As far as Derek and I go? It was a huge gift she gave us. I feel reinvigorated to keep on the hunt, the search for answers, hoping one day she can hop in the car and go shop whenever she is in the mood, not when her body allows her to shop.


Somehow she picked the right day to go as we saw a few other wheelchair users. Despite the chair and the mask we seemed to blend in as if nothing was different at all, that certainly offered added value.

When we went to leave the store Abby had to use the restroom(I will rant another day on the absolutely disgusting public restrooms- both those who act like animals in them and those who get paid to clean them and don't!) and stood up and went in.. Out of the corner of my eye I noticed a little girl about 3/4 years old watching very closely. She began tugging on her Dad's hand to get his attention.. finally she was calling his name, she looked up at him and said "Daddy, look at her dress!!! Isn't it beautiful?"

I had stood there preparing for the questions. "Why can she stand up?" "Why does she wear a mask" "Did you see that girl with a chair"

But I was so wrong.

She simply loved Abby's dress. Taught me to not make assumptions.

IT was an incredibly heart warming way to end the day. To the parents of that little girl? Thank you ! You have done well.

To Abby, Thank you, you have done well!

Saturday, May 17, 2014

Mushrooms- Nutrition packed.


Selenium, potassium, riboflavin, niacin, vitamin D and more.


I HATE mushrooms, I loath them. I feel like throwing up just smelling them!


Abby LOVES them. Derek loves them too.


Over the years I have always gone out of my way to avoid cooking with them. The smell that wafts off them while handling, the smell that lingers on my hands is beyond offensive to me.


With Abby so limited and the fact that Derek and Abby love them I have felt a huge amount guilt that I have prevented a steady flow of them on our dinner table. Over the years as their popularity has ebbed and flowed I have been secretly pleased to see them not included in the various recipes.


After struggling with keeping Abby's D levels at an acceptable level I have been better about including them, though cautiously. Since she reacts to so much every time I cook them(no raw! Derek got food poisoning from raw ones! and Abby just doesn't eat anything raw unless she wants to react) So far, she has never reacted and at this point really is pleading with me that I find ways to add them more often.

So mushrooms are now on the menu 1-2x a week.


When I have been reading about their nutritional values, I found they are a source of B5. B5 (pantothenic acid)is actually made in our intestines, except Abby's lab's showed she is low in it. Since our bodies make it I have found very little about the lack of b5. However, perhaps that is a component in why she struggles to digest so many foods. Definitely a great reason to include them more frequently.

Also a source of Ergothioneine, which is a great antioxidant.

Here is a snip from the website "Fresh Mushrooms"

Beta-glucans, found in numerous mushroom species, have shown marked immunity-stimulating effects, contribute to resistance against allergies and may also participate in physiological processes related to the metabolism of fats and sugars in the human body. The beta-glucans contained in oyster, shiitake and split gill mushrooms are considered to be the most effective6.


There are some concerns in the corn allergy population, they are grown in a variety of mediums, some of which can be corn contaminated. So if you are corn allergic keep that in mind while searching for a safe source.


I will cope with my hatred of them for Abby's nutritional need for them. I still won't eat them though! :-) In general I am far from picky(if you have read this blog you have seen all the "funky" foods we love) but even with their fab profile, I just cannot. I can however suck it up and prepare them more often for Derek and Abby.

Wednesday, May 14, 2014

Mito- Is it 1 in 1000 or 1 in 7000?

If you really want to nitpick, mitochondrial "dysfunction" probably occurs more often then 1 in 1000. Depending on which article you read or which Association you visit the statistics are wildly varying. There is a HUGE difference between 1 in 7000 and 1 in 1000.




From medications,toxins, from malnourishment, anorexia, chronic illness.. cancer, heart disease, diabetes..


But for all of those, mito dysfunction can be a "symptom" of another problem. To complicate things there are actual mitochondrial primary disorders that can also be the cause of anorexia, chronic illness, malnourishment, diabetes.. etc.

How do we explain adult onset Mito. Clearly something triggered the Mito disease. A symptom of something else, or a Primary that just needed a certain threshold to become symptomatic?


How many cases of "Primary" Mitochondrial Disease are there? Do we include both nDNA and mtDNA in those numbers? Considering only about 20 percent are genetically identified that leaves a good 70-80 percent of mito patients that are diagnosed via "educated guess", those are the patients that give Drs. heart attacks. Depending on which Specialist you visit, they may see the symptoms indicating Mito or something else.

There are many patients like Abby that have avoided all of the interventions and have gotten through the rough spots. There are plenty that depend heavily on the interventions and make it through.

Sadly there are some who have lost their battle even with all the interventions.



I cannot fathom being a mitochondrial disease researcher. Things appear to be changing daily. Just when I think I am starting to understand, something new comes to my attention that has a ripple effect on everything else I have learned.


Leigh's is no longer an absolute death sentence. Patients are making it well into their 20's with and without a genetic mutation.


A couple years ago if you were a Mito Patient odds are you were very sick. Unable to work, needing assistance, but now Drs are getting more savvy. Many patients who continue to live active lives are being diagnosed with "mito". I talk to patients who are still in school or working. Of course, we know that the symptoms can be very different. Some Mito patients can have days of little to no symptoms when suddenly they crash. During their good days they are well enough to live pretty normal lives.


If you have diabetes that causes the Mito disorder, you treat the diabetes-right?

If you have Mito that caused the diabetes you still treat the diabetes-right?

It is very important to know the difference. From a research standpoint. From a treatment standpoint. From a Prognosis standpoint. From an inheritance standpoint.



So, is your "Mito" a Symptom? Is it the Primary? Are you genetically identified? Are you certain it is Primary Mito? Are you certain it is secondary?


When you see numbers that are anything from 1 in 1000 to 1 in 7000 it kind of makes ya scratch your head and wonder if they are all talking about the same disease.




Sunday, May 11, 2014

Coconut Whipped Cream Trick- Agar!



The coconut whip cream had been sitting on the counter for 30 minutes when I took this picture.


Coconut whipped cream is annoying. You can kind of get a creamy topping but as soon as it sits for a minute or two it melts. We have tried a few different tricks and just haven't been happy. I have been reading up on agar. We have tried a few brands and haven't been certain that Abby tolerated them. Definitely better for her then either pork or beef gelatin but still. I grabbed some Telephone brand agar at the asian market and we are trying it out with her. Still not certain this brand is safe but have a few more to try.

I read about how agar or gelatin can be used as a "stabilizer" for dairy whipped cream. I figured why not try it on coconut milk? With almost no exception, agar needs to bloom and then be heated to get the agar to gel. In this case I was able to blend it in while still in it's dry form. Seems to have made all the difference! Now and then I will taste a tiny tiny bit of grit, but unless you really look for it we don't find it to be noticeable. I might try a little less agar next time to see if I can get the same holding texture, but this worked very well and for the first time the dessert could sit on the table and not start melting the second the air hit it. :-)

The other advantage to agar over gelatin is that agar is more temperature stable, and boy does coconut cream need a little help. Coconut products are very temperature sensitive so anything to help combat that will take you a long way.

I felt it looked better when I piped it. It spooned well but wasn't quite as smooth looking as regular dairy whip.






WHIPPED CREAM RECIPE:

Ingredients:

1 cup cold coconut cream(when you chill either homemade or canned the cream will separate and get hard on the top that is what you want)
3 Tablespoons confectioners sugar(homemade or a trusted corn-free brand)
1 teaspoon agar agar powdered (I used "Telephone" brand found at most asian markets)
1/2 teaspoon vanilla extract(homemade with potato vodka for corn-free)


Whip coconut cream.(Just a quick twirl it blends fast!) In separate bowl blend together the powdered sugar and agar. Add confectioners sugar and agar agar to the coconut cream. Continue whipping until well blended. Chill for about 1 hour. Once chilled whip again before serving.


AGAR: NOW brand has agar and I will likely try it next. I believe Barry Farms also carries an agar powder but I have not tried it.

Friday, May 9, 2014

When 1 Specialist is NOT Enough

19 years of Specialists. NY,FL,CT,GA,OR,WA... that is a lot of Specialists.


I get frustrated when I hear folks say, "It doesn't matter whether the Mito is Primary or Secondary"


It does. It matters.


If the Mito is secondary, that means it is a symptom of another disease. If there is another disease causing the mitochondrial symptoms, if you find out what the disease is you might get better because that unknown disease could be treated.


Every symptom found in Mito is also found in many other diseases.

Seizures and brain changes can be seen in many diseases and disorders.

Hypotonia is a symptom of tons of diseases.

Failure to thrive is a symptom of tons of diseases.

GI issues are a symptom of even more diseases.

Scoliosis/kyphosis is a symptom of many many diseases.

Fatigue is one of the most prominent symptoms of more diseases then I could list in a week.

Immune issues are a "symptom" of many, many diseases.

You get the point.

There are some "absolute" cases of Mito. They have either a gene that explains it, or every other disease that could cause it has been ruled out. I am guessing there are as many if not more cases where the Mito is secondary.


One Neurologist thought for certain Abby had IFSH. She fit the picture well. But she did not have that.

One Neurologist thought for certain Abby had a simple undefined myopathy and would outgrow it, at the time she fit the picture well, but did not outgrow it.

One Neurologist thought for certain she had Huntington's(from infancy?!?!) she did kind of fit that picture as well but did not have that.

A couple Specialists thought for certain she had a Mitochondrial Depletion because it was "absolute" being found on a biopsy, she does have that but now we think it was "caused by something" else. Which means it is a "symptom" not the primary disease.


I have yet to find a diagnosis for Abby. No absolute genetic proof of any particular disease yet. For each Specialist's best guess based on the symptoms, the next Specialist comes up with a different diagnosis.

These are all well ranked Specialists within their field. They know their "disease". But that is the problem. They only "see" their disease.


If Abby saw 10 Mito Specialists they would probably all agree that she is a "Weird" case because her symptoms started in the womb and frankly she is very healthy for a 19 year old with a congenital depletion. I think they would likely agree she is odd but that the biopsy results are absolute.

Mito dysfunction is a symptom of more diseases then I can list.

It is important to make sure ALL those other often treatable diseases have been ruled out before accepting a Mito diagnosis as the primary.

We are hopeful this next group of Specialists(not mito specialists) are finally going to find the primary that caused the depletion. Maybe it is treatable, and maybe not. We won't know unless we look.


Abby has probably seen over 70 Specialists in her lifetime- and very rarely do they agree on any finding with Abby.

Allergies or Mast?

Immune issues or something else?

Secondary fsgs or maybe MCD from allergies or mast?

Scoliosis neurological or postural or idiopathic?


If I take Abby to a group of Drs trained on Mito- guess what? All they see is Mito.

If I take Abby to a group of Drs. trained on Immunology? guess what? All they see is immunology.

If I take Abby to a Mast Specialist? Guess what? It is all caused by Mast Cells.


I am not saying this bad. These have been some terrific Drs we have seen.


I am NOT saying someone doesn't have Mito, I am saying that if the Mito diagnosis is not absolute(meaning every other rare disease has been completely ruled out) then it "could be" just a symptom of maybe a treatable disease.


The depletion might just be a symptom of her being sick. Patients who get malnourished have mito dysfunction. Patients with chronic diseases cause havoc with their Mitochondria.


A Mito diagnosis should be a trigger to rule out everything else. We just don't know enough. Abby cannot be the only patient out there where her mito findings are a symptom, not the disease.

Keep looking. 19 years of hunting and I feel like we are getting closer.

Abby has a depletion, I won't argue about that. But, Abby also has something unidentified that caused it. The mito itself did not make her so sick. Worth the effort because maybe, just maybe when we finally figure it out it might be treatable, which is 100 percent better then Mito that isn't.

I have yet to meet 1 Dr. who had all the answers. When it comes to Mito or any other disease. The good ones will tell you they don't have all the answers.

If a Dr. tells you that all your symptoms are mental? RUN RUN RUN You need a new Dr.


Medicine is constantly learning. Each year a new theory, a new discovery. We don't give up. We don't stop looking.

Abby is too important to us to accept a diagnosis that has no treatment, without Absolute Proof it is the primary, we keep searching.

Keep the hope. If your gut says the Mito is not the primary issue? Keeping looking.

It isn't cheap. Our dedication to hunting for the right Dr. for Abby has inhaled our savings more then once. We have sold our second car more then once. Our homes. We homeschooled as needed. We moved frequently. On one hand, those decisions actually expanded our world well beyond finding Specialists for Abby. We found delight in keeping our daughters close to us vs sending them away all day. We found delight in exploring the US as we moved. We found delight in all the new people and things we were able to learn. We also paid a price.

Well worth it.

It was my career choice. If I decided to be a Mom full time instead of a career they had to come first 24/7. I am just one of those people, when I dedicate myself to something it is all or nothing. Doesn't work for everyone. For some they could not handle it because they are not the type of personality that would thrive when so focused on one area. For us? It works.

Weary,tired, frustrated over the years I have sooooo wanted to trust a Specialist to believe they finally figured out our Abby, but my gut instincts are relentless, I cannot accept a disease I suspect is simply a symptom.


So we keep hunting.


Is 1 Specialist enough for you? What does your gut say?



Thursday, May 8, 2014

Throwback Thursday



This is one of my favorite pictures of Abby and Sara. Seems like yesterday to me, though it has been 18 years.. time flies. Sara just wanted to hold and play with "her" baby. Abby had other ideas. She was just so fussy all the time she usually only tolerated me, often she wanted nothing to do with even Derek or Sara. Luckily, after a few years she and Sara were truly the best friends siblings should be.






Abby was a delightfully "mushy and squishy" baby. Of course we soon realized that when a baby is that "mushy" and not able to hold their head up, there are issues. Nursing was beyond a nightmare. For months she would nurse up to 10-12 times a night, never more then a tiny snack at a time. It was frustrating for both of us. Sara was nearly 11 weeks preterm, and the one thing you learn with a preemie is no matter what, they MUST eat and gain weight. I think that is what kept me sane while functioning on no sleep, first priority- eat. She certainly never failed to thrive though. Which I think made it more difficult to figure out what was wrong with her. By age 3 she had started to get stronger. By age 6 we thought for sure the worst was over.

Ages 6-9 were her best. This is a first grade picture. She had a wonderful summer outside in our pool and though she fatigued easily, she managed very well in school as long as she could come home and rest. She struggled with her "allergies" and was constantly catching every cold but she really was on target. The remaining issues she struggled with we were certain she would finish outgrowing at puberty. We were shocked when she got so sick. When I visualize Abby as healthy in my head, this is the image I hold on to.. we will get there again.



Friday, May 2, 2014

I Got Hope

Looks like I might be right.


The mito could be just a "symptom", and even the "allergies" and reactions could be secondary.(that was baffling and took a bit to sink in!)


Another journey ahead but we are ready. After 19 years we are pretty hardened to the medical journey.


Maybe this path won't lead anywhere. Maybe we won't get answers. Maybe we yet again run into Drs who aren't the right ones to help Abby.

Maybe we will run into the Dr that has seen this before, maybe a treatment that will help. Maybe this time around won't be as exhausting for her or us.


But maybe, just maybe we will finally know what is wrong. Maybe my Momma gut will quit screaming to keep looking.

Maybe just maybe Abby will feel better. Maybe she won't get any worse. Maybe she will feel well enough to even take an online class? Our goals for her are simple. Maybe a shopping trip? It has been a few years. That would justify this new path.


I used to hate "maybe". But after the last couple years of dead ends, I plan to embrace this "maybe" of a journey.


If we don't keep looking, if we don't keep up on the journey and moving forward we will get nowhere.


So to Hope, to the next leg of Abby's journey. She and I are more prepared. Not as quick to get excited and not as quick to get disappointed. Good skills to have when dealing with complex medical issues and the complexities of dealing with them.


Being right of course would make me happy,not because I need to be right, but because being right could make all the difference in the world to Abby.



 
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