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Help with Rare Disease Diagnosis

10.31.9310.31.93 Posts: 10
in The Porch
For the past year, our family has been working with doctors to understand our daughter's (Maya) "balance issues". This past spring, Maya received a diagnosis of Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) aka TPP1 Deficiency. Maya is the 8th reported case in the world. At this stage we are trying to find more people with this disease. Here is the link to my blog post with more details (http://bjames358.blogspot.com/). Please give it a read and like it, forward it and share it with your network.

Our hope is to find more people with this diagnosis, then we will be able to get the necessary help from the pharmaceutical and research community.

Thank you,
Beau
http://bjames358.blogspot.com/

Comments

  • 10.31.9310.31.93 Posts: 10
    It has been a long time since this original post. In two years we have found others and are kicking off a research project @TexasChildrens Hospital in Houston that is focused on Atypical TPP1 Deficiency/SCAR7. Lots of great progress, lots more to do.

    Thanks for your support.

    Here is my blog with the latest
    bjames358.blogspot.com/
    #fightingformaya
  • hrd2imgnhrd2imgn Posts: 4,895
    best of luck in your journey.
  • 10.31.9310.31.93 Posts: 10
    Thank you. We appreciate it.
  • SarahSarah Posts: 736
    My mother and I both suffer from an extremely rare genetic disorder, so I can sympathize with your situation. I also had a very difficult childhood with unrelated health issues.

    Strength and peace to you and your family, and congratulations on the work you've done so far.
    May the music of Pearl Jam help you along.
    "Somewhere in between / There and here / I got lost / I got scared..."
  • 10.31.9310.31.93 Posts: 10
    Thank you, Sarah. All the best to you and your mother.
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