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?