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.

Monday, January 23, 2012

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!


babyfoodsteps said...

Even a month, or a year is too long to go undiagnosed... I admire and commend you for doing what you knew was right for your girls ALL these years... you are a wonderful mentor to us all!

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