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.

Thursday, August 3, 2017

Mitochondrial Depletion Syndromes- they aren't all the same.

Because of Charlie Gard, there has been a ton of media coverage for Mitochondrial Depletion Syndrome Patients.


However, I keep reading that they are "terminal".


Not all depletions are the same.


There are a few "known" mutations that usually have a grim prognosis. There are some Depletions that based on which body systems they have damaged and other clinical findings are generally a grim prognosis even without a genetic mutation.


There are just as many with Mitochondrial Depletion Syndromes who aren't terminal though they are deemed progressive. (Like Abby and others many are a slower progression).

To read more about the many different types and presentations of Mitochondrial Depletions visit OMIM:

There are some patients who develop Mitochondrial Depletion Syndromes from prescribed medications- generally not terminal though progressive. (considered secondary Mitochondrial depletion Syndromes and there are other causes of secondary Mitochondrial disease beyond medications)

There is sadly not much known about Mitochondrial Depletion Syndromes.

A few years back I read some research that suggested approximately 11 percent of all patients diagnosed with Mitochondrial Disease have a Mitochondrial Depletion Syndrome(though I haven't cross checked that figure and it was in an article pre-WES testing).


Abby has been symptomatic since the womb. She had some rough years as an infant and toddler, and then again at puberty. We lost a baby before Abby that based on autopsy I suspect had a Depletion and our oldest was very pre-term with a growing list of suspicious symptoms. Yet, she started college at 14(as did our oldest) and at 22 while limited and home bound she walks(she does use a chair when she goes out to conserve energy and prevent fatigue which triggers progression for her), doesn't need a feeding tube or any other significant interventions.

So, please do not assume all babies with Mitochondrial Depletions are terminal or need extreme medical interventions.


Another reminder, genetic testing is only identifying approximately 30 percent of patients. That means the majority of Mito Patients do not have a known genetic mutation. Many health insurers refuse to cover the cost of genetic testing which is slowing the available data for researchers to study to help identify other mutations.

Without a known gene mutation it is highly unlikely a Mitochondrial disease patient will be eligible for future breakthrough treatments. Clinical trials are being created around specific genetic mutations. That leaves 70 percent of Mito Patients waiting much longer.

There are patients with Mito who took years and and years to be diagnosed. There are patients today who will wait years to be diagnosed, let alone start any type of preventative treatment. Things have improved but the overall misconception by Drs. that this is a "rare" disease is wrong. That this is a "terminal disease of infancy" is WRONG. It is an incredibly variable disease, it is tricky to diagnosis, and even patients with very clear cut and confirmed diagnosis are having to deal with Drs. who don't believe "they have Mito because Mito is terminal in infancy".

Fact: Mito is not a terminal disease of infancy(the smallest percent of patients are of the severest onset)though it can be terminal. It occurs at any age. Most don't have a known genetic mutation. The majority of Mito patients aren't terminal, but chronically ill.




Tuesday, July 25, 2017

Charlie Gard

I have followed this case since the beginning.

While I haven't seen it discussed much in the Mito forums, I am fairly certain anyone who has Mito or knows someone with Mito has followed this case as well.

Yesterday the family opted to give up the fight after finding out that the hospital had dragged their feet so long fighting a promising treatment for their son that it was too late to offer the treatment. Had the hospital offered the treatment back in December or January or even as late as April, Charlie might be heading home today instead of facing his final days.


While Abby has a different type of Mitochondrial Depletion then Charlie, I cannot help but to feel incredibly engaged in his story. Fact is, at any point Abby could get an infection, or develop any more common illness and it could send her into the spiral of progression that could leave her fighting like Charlie, it is a fear that that stalks me in my sleep more nights and days then I care to admit. The fear of that fate left us fighting to find a property away from germs and chemicals and people.. that fear drags me into the kitchen to grind grains or make yogurt when I am sick or exhausted.

The only thing worse then the horror of this disease is to find out that Drs. not only feel you are a lost cause, but feel it is better for you and society to murder you.

They felt so strongly about it they stripped Charlie's parents of their parental rights to make sure Charlie dies sooner then later.


These are the horrors that haunt me.

Everyday in America people scurry through the streets to save feral cats. Everyday in America someone joins Peta to prevent a leather shoe from being made. Everyday someone in America will scrap their change from their couch not for their child but for a 7 dollar starbucks coffee. Very few fight for parental rights.


Those behaviors are widely accepted by our society.

Fighting for life which is the only thing that matters is deemed wrong by government and the Medical Professionals.

What type of world do we live in?

How do you go near a hospital and even half believe they will fight for your life? How many people are "terminated" each day because Medical Professionals feel it is better for society?

We fight for feral cats but not for the sacred life of a child, a human who had the misfortune to be born with a terrible disease.

This is why we live far away from the burbs. This is why I distrust "modern" medicine which I used to follow blindly. This is why I am willing to learn to butcher a chicken or kill copperhead snakes..

If this is the world the majority want, I want no part of it.

Charlie is Abby, Charlie is you, Charlie is me.

We live in a world where it is okay to strip the rights of parents to murder/eliminate/terminate sick people.

Charlie and his family fought. They fought hard and in their less then a year fight have brought more awareness to this disease then all of the associations, Drs. and patients combined.

I still have Abby and we live in fear. I have no idea how Charlie's parents will feel as they continue forward, but my heart is with them and Charlie, always.

We need to know "why" so many are getting sick and we need to eliminate the cause.

Before more Medical Professionals get the idea it is just easier to murder then heal.


Tuesday, May 23, 2017

Still Stable.



You almost hate to celebrate when you have these lengthening periods of stability, and I am tentative about Abby and I claiming responsiblity for it, but could it be that the path we picked was the right one? Or just dumb luck?

Don't get me wrong, Abby hasn't been cured.


Showering is an effort and it is a day of rest afterwards, but a few years ago she couldn't. Or if she did it would send her into a month long progression or flare or whatever we call it that generally left her worse off then before.

Abby still lives in Pj's and other easy to change items.

I still cook and clean for Abby.

She still gets some wicked and weird new symptoms and has weeks where getting even out of bed is equivalent to running a marathon..admittedly those flares still absolutely terrify us, but with a careful choice in how she uses her energy she comes back to baseline.

She isn't getting worse. Which makes not getting any better a lot easier to swallow.


So we celebrate.


We know what she and we have to do to keep her stable, and every effort is well worth it.

It is certainly a different kind of life. Homebound. Weird food. Avoiding mito toxins like the plague. Saving energy and knowing when the gas tank is just too low to brush her own hair, but the careful monitoring and balancing has lead to stable.


Yet there is always that question of quality of life.

Abby is the first one to tell you that a life at home, safe though different beats the progression that comes with trying to be "normal" every single time, and we agree.

Over the past few years I suspect I have grieved more for the life she could have had more then she ever did. She points out all the time that you cannot miss what you haven't had. Abby reminds me of how sick and miserable and terrified she was when she was pushing and causing further progression. I agree, watching her deteriorate trying to be "normal" was probably the most frightening and stressful period in our families life.

I often feel as if we have to "justify" this odd path we have chosen, and I know I don't. If anything the fact that she has done so much better with this life style vs trying to be "normal" which includes increasing medical interventions needed aka progression should be enough to feel great about the decision, but there is such societal pressure to conform to a certain life style. American's are go getters! Drs. encourage living fully and pushing for "normal" and if that means more medical care and a lack of stability that is okay, because chasing "normal" is the priority.

We disagree. Normal just isn't worth the progression.

For Abby, for us; "Quality equals Quantity. "

Abby hasn't touched a medication or a vitamin in a few years. She has lost a few more foods, but also gained a few. I grind, I cook, I mix and blend to make everything from scratch still and glad to keep doing it to maintain stable because realistically there are days and weeks and even months where she crawls out of bed to eat and heads back to her bed.

What makes it all worth it is seeing her smile more, stay healthier, recover more quickly. When we started this journey we really did not understand the words "baseline" or "stable" and why patients and Drs alike put such a focus on them. Now we understand.

So we will keep on keeping on. Raising chickens, turkeys and gardening. Fighting fire ants with boiling water instead of chemicals(no lie, the boiling water isn't as good as the chemicals!). Watching out for copperheads, spiders and other things that either are dangerous or make us scream! Most importantly we enjoy each day and find the joy. To our continued surprise you don't need "normal" to be happy. Happiness, joy, normal, and success are all defined by the individual.

Admittedly, I keep reading journals and articles hoping for a cure and maybe one day there will be one. For the time being we are loving "stable" and our version of normal.





Wednesday, March 22, 2017

Graham Crackers-


Abby for awhile wasn't tolerating the brown rice protein powder we love. As far as I know there isn't an absolutely and completely corn-free protein powder, but during good periods for her she has tolerated 1 or 2 brands.She tried again recently and did well so it was time to make a big batch of graham crackers. They are delicious without, but something about the brown rice powder makes them taste more like a "graham" cracker. The addition of buckwheat really worked well.

Hardly a "healthy" treat, but definitely "healthier." I do add teff flour to our gluten free flour blend, plus the protein powder, plus the buckwheat, a justified sweet treat.




1 3/4 cup homemade gluten free flour
1/2 cup buckwheat flour(we grind our own from toasted groats)
1/2 cup homemade brown sugar(Plantation Blackstrap molasses mixed in C&H organic cane sugar)
3/4 teaspoon guar gum(we use NOW brand)
1 teaspoon homemade baking powder
1/2 teaspoon baking soda
1/2 teaspoon salt(safe for you, we use pink himalayan)
1/2 cup Tropical Traditions coconut oil
3 tablespoons water
3 tablespoons honey(know your bee keeper, some honey can be cut with corn or the bee's fed corn syrup to help them winter)
1 teaspoon homemade vanilla extract. (potato vodka plus lots of beans tightly sealed in a jar for at least 6 months)

Preheat oven to 325.

1)Mix first 9, dry ingredients.
2)Cut in the coconut oil to dry ingredients.
3)Add remaining wet ingredients. Mix well.(you may need more water to get a firm dough)
4)Roll dough out between 2 sheets of parchment paper to even thickness using a rolling pin.
I use a pizza cutter to cut squares.
5)Using a fork, prick the dough in an even pattern.
6)Place sheet of parchment paper with cut and pierced dough right onto your cookie sheet.
7)Bake 15 minutes. Remove from oven and immediately score the crackers into squares if needed, while still hot and soft.

8)If your crackers are still too soft you can either flip them and place back in the oven for another 5-10(watch carefully)or slide them into your dehydrator(my favored option). If you don't have a dehydrator you can turn your oven as low as possible and keep an eye on them to allow them to dry out more. I like to make a triple batch and dehydrate them very dry and vacuum seal snack packs. Keeps on the shelf for months.


NOTE: We like to add brown rice protein. As far as I know, the majority if not all protein powders should be assumed as corn contaminated to some degree. Once in a blue moon Abby tolerates it just fine(different levels of sensitivity to corn). I add 1/4 cup of the brown rice protein powder and reduce the gluten free flour to 1 1/2 cup. The brown rice protein powder just gives it that true graham cracker flavor.

Tuesday, February 28, 2017

Double Stuffed Abby O's : Chocolate free, corn free, dairy free, gluten free, soy free...



1 1/2 cup all purpose gluten free flour
1/3 cup medium roast carob powder(Abby has been tolerating Frontier brand)
1/2 teaspoon homemade baking powder
3/4 granulated(C&H for cornfree) sugar
1/2 teaspoon safe for you salt(we use pink himalayan and grind it)
1/2 cup Tropical traditions coconut oil
1 slightely beaten egg
2-3 Tablespoons "homemade alternative milk" or water works fine

Preheat oven to 325

1)First,combine flour, carob,baking powder, sugar and salt.

2)As if you were making biscuits or pie dough, cut in the coconut oil.

3)Add slightly beaten egg and 2 Tablespoons of "milk" or water.

4)Mix until firm but workable dough, you may need to add another tablespoon of "milk" or water.

5) Roll out aprox 1/8 inch thick between 2 sheets of parchment paper( you may need to also lightly flour your parchment)

6) cut cookies and transfer to parchment lined cookie sheet.

7)Place cookies in the freezer for 10 minutes, you want the dough well chilled.

8) Bake for 12-15 minutes until crisp.

TIP: I have often not rolled them thin enough and my cookies never got crisp, I found 2 solutions. Either turn the oven on the lowest setting and let them dry out on the cookie sheet in the oven, or toss them in your dehydrator for an hour or two until crisp.

Before filling make sure they are cool.


"Fake Oreo Cookie Filling"

3 1/2 cup corn free powdered sugar(I make our's but if you have some store bought you trust is cornfree it works great too.)
1/2 Tablespoon granulated sugar(domino's)
1/2 teaspoon vanilla extract(homemade using potato vodka and vanilla beans)
1/2 cup palm shortening(Spectrum or Tropical Traditions)
2 Tablespoons HOT water

Place all the ingredients in a bowl and start mixing. I used a hand mixer and had a tough go of it, but it did blend. This stuff will be very thick. It will surprisingly roll into a ball with ease. If it is too sticky, add a bit more powdered sugar. If it is too crumbly add a touch more hot water.

You take about a tablespoon(or more or less depending on the size of the cookie)and roll it into a ball. flatten it slightly between your palms and place on your cookie. Top with another cookie and lightly press together.- Done!

Thursday, February 16, 2017

Reality 1 or 2

Those moments when you are running as fast as you can from a sense of engulfing panic that things could go so very wrong.


For Abby's entire life we knew even at the best of times that something was very wrong. We weren't always able to pinpoint what it was, or how to treat it, cure it, stop it, move ahead of it. Often the Specialists "saw it" "felt it" and they too could not pinpoint beyond that something was "wrong."

Each time I felt that panic nipping at our heels we ran faster, or we watched Abby's body catch up and balance out and we could again breath deeply. We were blessed with the ability to shut it out and move forward with our lives without putting her health first.


Over the years during the rough periods Derek would always say " she will be fine. ".


He was right(he generally is), yet despite knowing that again and again she bounces and overcomes, that stupid sense of impending doom nips at my heels.


"Mitochondrial Depletion Syndrome", FSGS, and other medical terms I search daily to see what is new within the field brings it all smacking me in the face at how very fortunate she has been, we have been. It also often triggers those troubling thoughts of I might not be able to hold the dam forever. Maybe the balance we have seen is that we are closing our eyes and hiding to avoid reality or is it just a fluke.

Today is one of those days I feel like we hover between two different realities. 1 reality includes the Depletion and all the potential horror that comes with it and the other reality is the one we have been chasing, working for and cementing which is that while she may have those diseases the "cause" can be removed or at least the aggravating factors that trigger progression we can remove.


The wild card is that on many levels the reality is that we have made massive changes in her environment/food and the progression slows to a trickle. Same thing happened as a toddler. I sure wish we could pat ourselves on the back and say "we figured it out!" But is that "wild card" dumb luck or real?

The problem is, it could be a fluke. A coincidence.. random foolish luck. Those baby toddler years are very hard biologically speaking because of the rapid growth, it is expected to see more symptoms and progression. Same can be said for the teen years, remarkable and stressful changes occur to the body that can and often do trigger progression. Her disease process could simply be mild and or unique, even the Specialists admit they don't know the half of it yet.

Are we simply enjoying a lull in the storm? Or have we leashed this journey and it is our unified and outlandish efforts and not her biology that has allowed for this stability.

The self doubt, the worry, the lack of confidence in these times are warranted. We are opting for a path that at least to us, seems to be making all the difference in the world, but is one that very few medical professionals would ever recommend for someone like Abby. There are hints of research, a zillion threads that have yet to be woven together by science that make it clear that we did not just randomly chose this path, but there are also the same amount of threads that can be combined that argue just as articulately against the path we are on.

There are days I wake up and really think I have lost my mind, that we have collectively lost our minds. I think about our "old lives", walking on the treadmill, schools buses rolling through the burbs day and night, running out for dinner or lunch multiple times a week, opening up a box for dinner,shopping and buying the latest greatest cleaner, smelly to make the house more welcoming, food without ever reading past the calories, going to the Dr and giving her whatever was prescribed without even reading the insert.. was that life really, truly adding to her poor health? What was it exactly that caused us to run from that life, what event triggered this radical change in our lives?

Or when it is 20 degree's outside and I am picking up chicken poo, filling ice cold waterer's in the pouring rain... or in 100 degree heat and humidity pulling weeds or butchering a turkey or a chicken, sweating like this old body has never experienced before. Scrubbing my feet after a day of dirt, poo, scratches and bites.. staring at fire ant hills as far as the eye can see..trying to figure out what welt on my body came from what bug and how many bites can my body take? Trying every trick to move ants and bugs from pouring giant heavy kettles of boiling water over the mounds to rubbing my shovel with cinnamon oil in hopes of discouraging them from attacking up the shovel handle.. that moment when I have to take the life of a bird that I have nurtured and loved in order to nurture and love my family. Plucking feathers? How many in my generation or daughters generation have ever plucked feathers from their food. Have we lost our minds? The 5 am grinding of teff grains for flour, the yogurt maker on the counter culturing homemade coconut milk- really have we lost our minds?

Even on the best of days when I have found a new food Abby tolerates, when I drink a glass of water from the well feeling good knowing it is safer then city water, when Abby is smiling and up to brushing her hair or helping fold laundry, there is that tickle of doubt in the back of mind.

In the patient population there are very few who have opted for a journey like Abby's. That doesn't help my self doubts.

Without a doubt Derek and I have been fearless in following our own destinies and are kind of proud at this point of how many doubt us or felt we had lost our minds for going against current trends or expectations. There have been huge rewards for our free thinking and a huge price as well.

This isn't gambling on a job across the country, or a gamble on which housing market will improve or fail,or following my gut that the girls needed more academics then the public schools provide, this is gambling on life. Abby's life.


Is that dramatic? Probably and probably not. Is it reality 1 or reality 2? Not sure today.

I woke up today wishing for the comfort of Specialists telling her, us what medical intervention we should do. I woke up wanting their reassurances that food, medications, environment in no way what so ever could make her worse. I wanted someone other then myself to make potentially life saving decisions, or at least life extending decisions, heck even simple quality of life decisions. But, I also had a moment of clarity.

She is more stable today then yesterday, then 6 years ago.

She is smiling more.

She is happy.

I am getting more exercise.

We have followed the Drs. creed of " First, do no harm."


So for today we will stick with reality number two- this journey is our reality and worth continuing.

Wednesday, February 1, 2017

Corn-Free Turkey

Corn-Free Turkey:

We haven't been able to determine whether Abby is reactive to Turkey or just reactive to what it was fed, or rinsed with, or injected etc. A few years back we spent a great deal of money on a local Turkey and she still reacted, but now that I am able to raise food for her I finally took on Turkeys to make sure we aren't removing a good source of protein from her diet.

I thought it would be the same as Chickens- not so. Turkeys need a lot more attention. They EAT like crazy! Not cheap when feeding them corn-free and soy -free Scratch and Peck and any(and ALL) organic greens I could find. I finally broke down and fed them some organic bread that did not have corn listed but I suspected it wasn't completely safe. They ate a lot of organic banana's, for whatever reason they adored them. They loved 3 helpings of dairy yogurt a day(I needed to make sure their protein needs were met and my homemade coconut yogurt covers the calories but not the protein). For the last six weeks I went out of my way to hand feed them every two hours throughout the day to make sure they gained weight as quickly as possible. (The cost calculations on what we fed these guys is mind blowing, that local organic turkey from the farmer you trust that is charging 100 dollars for it all dressed, rested to go? Buy it, you are getting a deal!)

Another issue was that the setup I have just wasn't spacious enough for Turkeys and chickens(my chickens were not into sharing ). So, I had to carry the turkeys in the morning to a 10 by 10 dog kennel and in the evenings I had to carry them back to their area of the henhouse. They were curious and sweet but big and strong and I am still covered in bruises and scratches. If we do it again I will make sure we have a building just for turkeys so I don't have to carry them! That last week was a tough one!

Butcher day came this weekend. Until we bought property the only thing I had killed in my life were fish and even those weren't easy on my heart. I suspect the only reason that I can participate in the butchering is because I know I have an obligation to the animal and also I keep in mind the end goal, which is to keep Abby's diet as corn-free as possible.

While butchering is hard on the heart and soul and it is labor intensive(especially with large strong birds) it really isn't complicated or hard. We hand pluck and even then 4 Turkeys took us about 6 hours start to finish(we set up the night before). Rinsing with water frequently and keeping our work area clean were key. When I pulled the turkey from the fridge today there was no smell what so ever. A huge different from the grocery store.

At 14 weeks my largest dressed broad breasted turkey weighed in at 23 pds. No complaints. If Abby tolerates turkey, then 23 pounds of meat could be split in a way to feed her for months.

Tonight Abby will try a bite of the first one to be roasted. Fingers crossed. On one hand it would be really terrific to add another protein to her diet, on the other hand the thought of raising more turkeys right now is daunting!
Not sure which critter comes next. Abby is opposed to rabbits(I have to admit after the struggle to butcher the big baby eyed turkeys this weekend I am relieved) and we aren't huge fans of goat meat so the goats are safe from me. I think though for at least a few months,I will focus on the garden.

Friday, January 13, 2017

Compost or Precious?



Before going corn-free a 1/4 cup of leftover graham cracker crumbs I would have tossed without hesitation. Today I get excited to have leftover crumbs.


Before going corn-free steps to graham cracker crumbs:

1) Buy a box of graham crackers

2) make crumbs

3) I noticed they also sell boxes of graham crumbs so that would be just opening the box!


After going Corn-free:

1) Find corn-free grains and flour. More complex when you are also gluten and nut free.

2) Grinding your own flours from the grains that took weeks to find with the least likelihood of corn contamination. Some flours we are lucky to find others we have to make by grinding. (So add a grain mill to your shopping list)

3) Finding safe local honey. Not as easy as you would think.

4) Finding safe salt- this for whatever reason is often purely personal tolerance so recommendations aren't always helpful.

5) Find safe sugar. C&H is the current gold star. Again, different tolerances to various levels of contamination.

6) Find Blackstrap molasses. We use Plantation brand. Now make your own brown sugar because for many store bought brown sugar isn't safe.

7) Find safe "fat". We use Tropical Traditions coconut oil or palm shortening. Not cheap. Also must be ordered online. No last minute running to the store.

8) Make safe "milk". Or find safe local dairy or goat. First you have to find safe coconut or rice or nuts if you can have them. Boxed alternative milks are often not just enriched(just consider all enriched foods as corn tainted) but many other ingredients and the carton itself can be lined with corn tainted wax.

9) Find safe baking soda and cream of tartar to make your own baking powder. For most with corn allergies store bought isn't safe.

10)Now you are ready to try about 10 or 15 recipes you have to alter slightly to get a graham cracker worth baking and eating.


11) Lastly you need to either have a safe plastic bag to pound your crackers into crumbs(ziplock brand used by many)or have a blender or food processor.

12) After all of that you can see why those crumbs are now precious!



 
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