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.

Friday, September 7, 2012

Do you want to be one with a star on your belly, or with those who do not?

For as much as I want a final and absolute diagnosis- and for as much we understand a Depletion is a depletion is a depletion- we just won't accept Mito without a gene.

On year 17 with Abby. She has has a load of diagnose's- IFSH, Undefined Congenital Myopathy, mitochondrial myopathy,depletion, and as science figures new things out, her diagnosis is bound to change. Based on statistics we stand a good chance it will change in any case.

A debate of sorts with all the families is who has star's on their bellies and who doesn't?

Clearly many of the Mito Specialists don't want to confirm Mito without a gene. First,it will help identify future drug trials and treatments. Second, who wants to diagnose a child with a disease with few treatments and not curable? I suspect some of the Specialists probably have guidelines also set up by their hospital systems, or with Labs or pharmaceutical companies- everyone needs to make a buck.

It stinks to go without a confirmed diagnosis, but a diagnosis of Mito is worse.

Without a gene, we have hope, which is harder to have with a confirmed gene mutation diagnosis. (Depletion is genetically confirmed,but without a gene possible to be secondary)

There are some major difficulties for families without a confirmed diagnosis- Public School, SSI, insurance coverage. Been there with the Public Schools. I can understand their resistance. All of the extra services a special needs child needs under the law eats up an enormous budget. I have now heard of many people hiring Attorney's to navigate the Public School systems. Which horrifies me on a couple levels. 1) That the school system to going to such lengths to block assistance to children. 2)What about families that cannot afford an attorney? 3)If you can afford an attorney, maybe you can provide and pay for some of the needed medical care instead of the tax payer. There I said it, I think services through the Public School should be based on a sliding scale. Then those with the ability to pay for their children's medical interventions do, while those who cannot will get help. We already set up Medicaid like that for the most part, though Medicaid does have some loopholes.

Instead of fighting the school district we pulled Abby. Protected her energy, protected her from infections and provided more academic challenge. I think the straw that broke the camel's back was that last year in High School. So many Dr.s encouraged us to "push her" that being in public school was "healthy for her development".. I tried to be compliant. The School District wasn't supportive, no formal diagnosis, and she at the time was "invisible" for her disability, though that year stole enough from her body, by the end of the year it had made her disability very visible. Here is an example of how wasteful the school district is with their money. The Bus stop was far away from our home, but on it's route it literally stopped less then a 1/2 block from our house at a stop sign. The Bus however would not allow Abby off there. We went to the school and pushed for a 504 to A)get her a locker(only juniors and seniors got lockers) and B) to get the bus driver to open her door for 30 seconds for Abby. Well, they refused to give Abby a locker despite Drs. notes from her Orthopedic, Primary, stacks of documentation. It would not be fair to take a locker from a Junior or Senior- ha. For the bus? They said their contract with the bus prohibited changes to the route. But, they could provide a special van for front door pick up and drop off. Nice, however here is the kicker, they did not have a van that could go to our house. So, they would have to pay for a special van and driver just for Abby- Surely that would cost the taxpayers 10's of thousands of dollars instead of simply opening the door. We were horrified! Granted, we have paid our share of taxes, but just that bus and driver would eaten every single dollar plus some of what we have paid in during our lifetime. We were mortified. How could we as taxpayers justify such extreme waste and spending of our neighbor's hard earned dollars? How many kids would not get a service because we allowed the school district to waste insane dollars on one kid? We felt strongly that even if the school district was willing to waste your money we could not. It still makes my stomach turn to think that if they were willing to be so wasteful with Abby, how many millions of our tax dollars are being thrown away so frivolously? We said no thank you. We couldn't and wouldn't ever be able to sleep knowing that we were part of the huge abuse in our government when we could afford to resolve the issue out of pocket without hurting other needy children(we weren't in a good financial place at the time, struggling to pay the bills, but we could at least pay the bills). We still feel disabled doesn't mean we are entitled to services, it just means as parents it costs us more, but if she were a talented Olympic athlete it would cost us more out of pocket, so no difference to us she is our responsibility with all the good and the bad. The question is; if Abby had her Mito Depletion diagnosis, would that have happened? Probably still a battle since Mito isn't exactly in any of the schools written guide books, but perhaps would have provided more ease and less waste.

For years without a diagnosis we got very little help or compassion for Abby. We were met with resistance and I nearly lost my mind trying to advocate and care for her. The Drs. visits after the depletion was found? Very different, and very unsettling. Suddenly everyone realized that they were wrong about Abby, that we were very right and there was clearly something very wrong. Compassion blossomed. It felt very foreign to us to have that feeling- Abby and I actually did not know how to handle that.. we were used to preparing for battle each and every Dr. visit.

Once you have a diagnosis Drs. treat you differently, because protocol dictates that- and it is not always a good thing just like being treated differently because you don't have a diagnosis is not always good. Abby developed GI issues post Depletion diagnosis. We took her to a GI who had experience with Mito patients- he treated Abby like she was a goner. He was clearly in shock that she did not have a tube, that she did not have a specialist team waiting in the sidelines for her eventual decline.. We left that appointment in a red hot panic! I promise you, had we gone in without a diagnosis, we would have gotten much much different treatment(I have heard from many parents that their teens without a Mito diagnosis are frequently diagnosed with anorexia or other eating disorders). Odds, are neither would have been right for Abby. The "diagnosis" can cause as much damage as no diagnosis. Whether you have a confirmed diagnosis or not- there is no one size fits all. If she did not need a tube without a diagnosis, why would she simply because she had a diagnosis? Each patient is individual. We ended up seeing a new GI who did not see patients based on their diagnosis or lack of diagnosis, but based on what the problem was- worked much better!

However, looking back if I had to chose- 1) have a diagnose or 2) not confirmed but door open for other diagnosis then Mito? I would take the "suspected" "not confirmed" in a heart beat. Though, even if she had been confirmed at the time, we would have still said no to the District wasting your tax dollars. But having a confirmed Mito diagnosis forces you into a box of what Drs. think you need based on Protocol. That doesn't work for Abby. Having a depletion without a gene leaves the door open a crack for us to find a primary as the cause of the depletion. We are hopeful that the Mast diagnosis fits her- it could explain the depletion because it could have caused the poor nutrition which could have caused the depletion.

Right now, only a couple Drs. can manage to see both the Depletion and Abby. Her Mito Specialist recognizes that each Mito Patient needs their own treatment plan which can vary wildly patient to patient even with identical mutations.. Maybe 10 years from now even family Drs. will understand that.. but for now we grit our teeth, and wonder if maybe doing battle each appointment was safer then the "Protocol" some Drs. jump to follow.

As Abby has more gene testing, we are starting to wonder how we will handle it if they find a mutation somewhere that confirms everything- I suppose like we do now- we follow the "Abby protocol" and not the "Mito Protocol" and a gene found won't change that.. but I wonder what new problems come with that? Abby doesn't want a star on her belly nor do I. Sure, it would make getting by easier, but since when is life easy?


Circus of 6 said...

What is a star on the belly?

We decided to go with a diagnosis because the Dr felt it would bring better treatment. You see how well that has worked for us right? :/ We do more good by listening to our bodies than any medicine has ever done for us as far as maintenance of our disease. It can go either way for sure, you never know. You're a good mama and daddy, your girls are more than well taken care of. You have made good decisions so far, so don't doubt yourself now!!! ;)

Shame on the school for not adjusting a route by 30 seconds but that is a WHOLE other soapbox for me!!

Diane said...

Dr. Seuss wrote a book about those with star and those without- and how they felt the grass was greener basically on the other side... Called "The Sneetches" I believe they even made a tv show about it! :-)

Yep- diagnosis or not, medicine is only right if our guts says it is.. :-)

Jenna said...

That is one of my favorite books. I have never thought of a dx as a star but I can see how it fits. I so want a dx for Matt. I am sure at 4 with Abby you felt the same. I really want that clear cut diagnosis. It just really feels like Matt can't be the only one that has these issues and I really want to find other that have them. I hate the unknown and I feel so driven for answers. I also hate having to fight for everything. Matt's dx is not as invisible as it was, but still with out a name no one has any clues on how to treat. I feel so blind all the time, I need a path.
I really wonder if when Matt gets to 17 and if we are still on this unknown path and I have found things that work I can see feeling the same as you. If we get to that point, I would hope it wouldn't feel as scary. I would hope by that time that I could feel like there would be a really chance at an adult life, when right now there are just so many unknowns.

Diane said...

Oh I so hear ya! By the time Abby was Matt's age we thought she was "outgrowing" it.. we ran into difficulties but gritted our teeth.. we had to keep reminding ourselves that it could be worse..

I don't know what Abby has ahead of her, and even if we find a gene, the prognosis is so undetermined.. Just two years ago I was driven like a mad woman to get this figured out.. though I think knowing a confirmed diagnosis is good for us, our experiences are teaching us the drs. are not quite ready yet :-) So, instead of advocating to find out what it is, I find myself advocating that their idea of mito needs work! LOl I think it never ends.. Hang in there, I always thought 15 years of diagnostics was the ugly side, but am finding accepting the diagnosis and then doing what is right for Abby is a lot worse for us..but some folks do better knowing- stars or no stars.. equal amount of baggage with both. I am still keeping my foot in the door that we can find a diagnosis that is curable. Anything to push for normal..

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