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, April 5, 2013

Nothing has Changed, she still would have NEVER been Diagnosed (18 years and still the journey continues)

If we were seeing the specialists today vs 2 years ago- she still would not have been diagnosed with a Mitochondrial Depletion without that second biopsy. Based on the patient stories I have read and heard, she would not even have been diagnosed with suspected Mito and because her labs were so normal she might never have had that second biopsy.

Normal CK over the years.

Normal Lactic acid

Normal Metabolic labs

No GI issues(until more recently and no tube)

No hospitalizations

Normal (exceptional) cognitive ability

No seizures

No failure to thrive

When I look at the baby pictures I can clearly see there was something terribly wrong. Just the fact that she could not hold her head up for more then a few minutes at a time till she was over two,showed a major issue. When I look at Abby now it is clear that she isn't well. Life time of hypotonia, fatigue, constant colds and flus, she folds up like a pretzel and watching her dislocate her shoulders can still stop my heart for a second. Then the bladder issues(big flare, thinking IC), the weird extreme allergies, the weird toenails, the scoliosis and kyphosis, the hair loss, the odd proteinuria and hematuria... the list goes and goes and goes.. The delays early on and then better and then fading away again at puberty.. sounds like Mito- but the labs would not back it up and they still would not today.

If Abby had not had that second muscle biopsy, we would still be getting passed around specialist to specialist. Honestly, if her kidney's had not started to show stress we would at a loss for a diagnosis at all. Those years of knowing something was terribly wrong(her undefined congenital myopathy diagnosis did not fit) and having the specialists just shrug their shoulders(or deny anything was wrong at all) and pass the buck were terrible- I feel for any family on the journey right now.

The only thing that kept us sane was that as a baby/toddler her Specialist team clearly recognized there was a serious issue. They did not blow us off when she did not fit into a tidy diagnostic box- they kept looking. So far, that team in New York was the only group of Specialists that "saw and acknowledged and pushed" to diagnose Abby. Since then it has been Derek and I pushing and pushing and dragging Abby Dr to Dr looking for answers.

When you read what you can find on the web about how Depletions are diagnosed( in the most recent publication I found without pay per view access )based on what I read a specialist would not know to look for a Mitochondrial Depletion. Even the Mito Specialists would never have guessed. Without that second biopsy we would not know today that something is wrong with Abby that the Drs. can no longer ignore.

Every other month or so I google looking for new information on depletions. Sooner or later someone will find new primary conditions that could cause a depletion and that fits Abby's symptoms perfectly. So far I haven't found answers to explain Abby,but what I have found again and again is that the criteria for a depletion syndrome has not changed.

In our mind that either means Abby is an exception to every rule or this depletion is secondary. Either way there isn't much applicable information out there to help us recognize what we should be doing for her. We at least have half our answers but there are hundreds and hundreds of patients out there getting blown off because their lab work and/or clinical presentation doesn't fit the textbook. Or, their symptoms don't fit a clinical trial, or a study.. Often Specialists won't even refer a patient to another Specialist.. we have been there and I can say with certainty it is a very special kind of crazy that parents experience.

The very Specialists who help define Mito as disease of energy with presentations in any given combination might look at a kid like Abby and say - Nope not Mito. Despite 2 or more organ systems, despite the obvious hypotonia and hyper-mobility,despite the life altering fatigue- the metabolic lab work was "fine."...

At least for other patients like Abby, nothing has changed in the past two years.

Houston still only has one(a geneticist at TCH who is also in charge of the EPI 743 trials for Texas but he is not as marketed or well known nationally or locally with parents at least)well known Mito Specialist. If that Mito Specialist is "unable" to help a patient or the patient is an adult, patients might find help at Texas Children's but patients are mostly still having to travel to other States to get diagnostics or care. Which is mind blowing that our massive MedCenter still under serves this growing population. I figure as the Government provides more funding for research on Mitochondrial Diseases we will see an increase in providers- at the end of the day it is ALWAYS about money.

The Walk for the UMDF raised fewer dollars then in previous years. Awareness for Mitochondrial Diseases is stagnant in our State, in our big MedCenter. In two years it seems there is less support then more.

There have been many days where I wonder if Mito is even a real disease? Since most Drs don't understand or recognize it. I wonder what other disease processes could cause the extreme and wildly variable constellation of symptoms..

In the past 2 years there have been gains. Targeted genetic testing for Mitochondrial Diseases(nothing turned up for Abby though),new research in how mitochondria impact diseases like cancer,autism, heart disease and more. The Medical Research World is recognizing that our mitochondria seem to be involved one way or another in a lengthy list of diseases. I am sure they will continue to uncover very important research that eventually will trickle down to patients suffering from mitochondrial diseases, but I am not holding my breath that it will be anytime soon.

When Abby see's a new specialist these days, we are always half tempted not to even mention Mito. It seems half the time they only see the Mito and feel she is "hopeless." Or the half of the time they have no idea what Mito is and refuse to change their treatment to make it as safe as possible. Oh and then that group of Specialists who think Mito is just another name for crazy. Abby's rather unique needs only complicate getting appropriate care. Having the Depletion label relieved the need to at least explain what is wrong with Abby, but it sure has opened a can of worms too.

We are so grateful that her Mito Specialist "gets" Abby. We are grateful for our Family Dr. We are grateful to the Specialists that are at least trying. To all those who fundraise, to all those researchers who seek answers for the sake of knowledge and not just the mighty dollar.

Abby turns 18 tomorrow around lunchtime. During that first week I had her home after she was born, my gut was screaming something wasn't right,but I had no idea of the long journey ahead. I had no idea that despite vast knowledge we still don't know the half of it when it comes to the human body. Not in my worst nightmares would I think that we would spend all 18 years of her life trying to even find a diagnosis that explained everything. Despite being a human pincushion and worse (Abby says it is horrifying how barbaric diagnostics still are)she is everything I could dream of when thinking about a daughter. After 18 years we finally understand "what doesn't kill ya, makes you stronger."

Hopefully when I post about Abby's 19th Birthday we will know more, but until then we live and continue to do the best we can. I can hope as the years unfold and I look back that I will be able to say that her 18th year was the year that the medical world caught up. Until then what else can you do but move forward? There are many others with a much more difficult and complicated journey then Abby's- and we remind ourselves daily, it could be so much worse- we are the lucky ones.


Laura said...

Dear Diane,

Answers. What seems so simple a request is so hard to obtain. I, too, believe that although we have a mito dysfucntion diagnosis for my son, that it does not begin to explain it all. What caused the mito dysfunction? If he and I share certain mito mutations, why didn't I have the same things he does? We are one of those who now have to travel out of state to get appropriate care ( I hope Dr. Frye will continue to guide his health at least into early adulthood ). Who will care for him then? Who will make sure that when he has a medication reaction, it is recognized and acknowledged? Will some doctor intimidate him into a medication or vaccine, upsetting all the work we have done to restore as much function as possible??
We too, have been so lucky. Lucky to find Dr. Frye and a couple of other doctors who have not thought I was crazy or dismissed my concerns. Because they helped, my son has a bright future. I try to tell other parents of affected children that no one will ever care about your child getting better as much as you will. Only your resolve to find answers will lead the way to a better life for your child.

Diane said...

Well Said Laura! Those thoughts float around my head.. I worry about adulthood, I worry about all the new babies being born! I just worry. The scary thing is, if this had not happened to us, I am not sure I would have believed it could happen.

Tell Me Why???? Is a question I wonder if we will ever have an answer to- but in the meantime like you, we are happy that we found a safer way to help Abby then what was traditionally available.

Let's all hope by my birthday post next we will all be that much closer to answers!

Dr. Frye is top notch! I have never heard anything but simply amazing comments- :-) I am sure he will keep caring for your son for as long as humanly possible- We are so desperately needing Drs. like Fry and Kendall here in Houston- until then I gladly travel for good care!

Have a great weekend! Enjoy the weather, allergens are down a touch and the sun and temp are perfect for our sensitive ones! Take care!

Nick Dupree said...

Abby sounds a lot like me, not fitting the boxes, and here I am age 31 still trying to get a precise diagnosis beyond "it's probably a mitochondrial myopathy." Our medical non-system in the United States is TERRIBLE!

Stopped by to mention... in part, THIS ^ post of yours inspired me to blog and share my mito story too: http://www.nickscrusade.org/journeys-with-mitochondrial-disease/

Diane said...

Nick, I was going to try to comment on your post, but for some reason this morning it or my computer aren't working with me. Thank you for reading Abby's journey, but more then that thank you for sharing yours!

I know many Drs are trying, but not enough. Your voice is priceless for all the Mito patients fighting for care- Hugs! And thank you for blogging!

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