Wow, only about 80 cases for children in the entire world have this gene mutation... neurodegenerative disorder spastic paraplegia type 50 (SPG50) is the gene mutation name, the gene is called AP4M1... Amazing how one family took to the community, with the help of doctors and specialists, to raise awareness of this type of mutation and finding ways to "treat" or even cure this for future generations. Hopefully, after some clinical trials on more subjects, this can help treat others with the AP4M1 or a similar type of genetic disorder. Good for future therapies and science! Link: Canadian family raised $3.5M to develop individualized gene therapy for son's rare condition (msn.com)
Good for them! I wonder if one of the reasons they were able to raise this amount is because there weren't lots of other places doing research on it. I think donors sometimes end up donating to a lot of different places working on the same cause, and sometimes that means that resources get spread too thin. Having this be so rare might have played to the advantage.
