Appointment this morning with genetics. Usually it goes we sit down, meet all the researchers blah blah blah....6 years we have been doing this same dance with our genetics research doctor, so why would I think today would be any different? We had heard over the years "We found something??? wait, no....no we didn't. Let's keep looking." We had a glimmer of hope today would be different, but I have learned to just have no real expectations and so we sat down ready to listen and go on our merry way. Today though, we see the assistant first and she has somewhat of a smile on her face. I am encouraged. We go through the usual "any changes, are these meds correct,ect...." and I answer, wondering if I dare ask what we will be talking about. As she is saying she was heading out to grab Dr. Dobyns, I blurt out "So, does he have something for us?" With a kind smile she says she believes he does and hurried to go get him. He always starts our meetings with updates himself on the specifics, long page front and back he fills in with my answers, and it's all I can do now to not just say OUT WITH IT!
Turns out all the previous possibilities aren't anywhere near where we landed. Matter of fact, he didn't get the information from his team until a few days ago! Life seemed to make sure we were all in the right place at the right time.
In a nutshell; her timeline post birth with the high lactic acid, the seizure types and the breath pausing spells really gave clinical confidence to his research findings. Coupled with her imaging of her brain showing the atrophy (shrinking) of certain areas, her head size and labs over the years, we learned was she fits with: Pontocerebellar Hypoplasia Type 6. It is a RARE diagnosis caused by a gene mutation in the cell base (mitochondria) that doesn't allow her to process proteins properly, specifically the arginie protein. It is a recessive condition that was inherited from her dad and me, nothing we would have to worry about with anyone else, but if we would have had more children, we would have had a high percentage of probability it would have occurred again.
I am adding a link here for an informative article from the National Organization for Rare Disorders that I found easy to read. (mind you it encompasses all the types with some general overviews with specific areas pertaining to type 6) Few things we still don't know around longevity and such, but our doctor is reaching out to a researcher who has studied this diagnosis specifically and hoping to fill in some of our blanks.
There is a "Mitochondrial Cocktail" that they may add to our routine. It's basically a mixture of specific vitamins that help support the mitochondria, it isn't a treatment or therapy. There is no cure or treatment, but we have know that all along our focus would be to learn from her magic spirit, not change it.
We await the last of the chain of steps to be completed, in about 4 weeks we should have the concrete diagnosis in hand. They just require a clinical lab to confirm the researchers findings, but he is very very confident we are here.
I wasn't sure how I would end up feeling. It changes nothing, but changes everything all at once. As I feel the one weight was lifted, I am now driven to read everything (which isn't much!) and become as much of an expert as I can, and that is a different weight I need to learn to balance.
I will keep updating as I learn more. I hope you take a moment to read the information, can skip to TYPE 6, but interesting to see the (in some cases small) variations between the types.
http://rarediseases.org/rare-diseases/pontocerebellar-hypoplasia/
THANK YOU ALL so much for all the love and support we always feel from you. I hesitated getting this all out tonight, but while it's fresh I thought was my best bet! So, I may add more as I have time to process and think, so stay tuned!
