Help with Rare Disease Diagnosis

PJ Family,

For the past year, my 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/)(bjames358.blogspot.com/). Please give it a read and like it, forward it and share it with your network. When we 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

Comments

  • hedonisthedonist Posts: 24,524
    Good wishes to your family and I hope Maya gets the help she needs.
  • rr165892rr165892 Posts: 5,697
    Good luck man,Best wishes for the Info you seek.
  • 10.31.9310.31.93 Posts: 10
    Thank you for your support.
  • 10.31.9310.31.93 Posts: 10
    It has been a long time since my 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
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