Increased Awareness Leads to Early Diagnosis of Mitchell Syndrome
Dear Friends,
It took Michele and I six years to get a diagnosis for our son, and the disease that would eventually take his life. As a result of those diagnostic efforts and the Foundation’s work to increase awareness, the illness that was finally identified as Mitchell Syndrome is now listed on genomic databases as a possible diagnosis for other people battling mysterious illnesses. The earlier someone can be diagnosed with Mitchell Syndrome, the earlier their family can join our community and join our efforts to identify possible treatments.
We were surprised, however, at just how early people could be diagnosed. Last month we were contacted by a family whose seven-month old son, Augustine, went to the doctor for some feeding issues, and tested positive on a genetic panel for ACOX1 gain-of-function (aka “Mitchell Syndrome”). Doctors are not sure if his problems are early symptoms of the disease, but having such an early diagnosis could be a game-changer for this young boy and his family.
Since his diagnosis, Augustine’s mom and dad have jumped into the Mitchell Syndrome community in full force, reaching out to their family and friend network to do whatever they can for their son and all our kiddos. A Gofundme account set up for research into Mitchell Syndrome has raised nearly $43,000 in less than a month. And Augustine’s mom, Kristen, has organized an additional fundraiser, “Auggie’s Teddies.” For a $65 donation on the Gofundme account, Kristen will send you a stuffed-bear-kit that you can personalize as a gift for a child or loved one. (For $100, she’ll send you two.) For more information, contact kristen.morar@gmail.com.
There are mixed emotions that come with watching the Mitchell Syndrome community slowly grow. We celebrate new friendships and opportunities, and weep with families who receive such devastating news. But we are inspired by these people and motivated all the more to do what we can to defeat the rarest of rare diseases—one stuffed bear at a time.
IN OTHER NEWS . . .
FUNDRAISING BENCHMARK REACHED! With your generous support, we’ve reached $75,000 of our $150,000 fundraising goal. (See total below.) Thanks for making this happen.
GROUNDWORK FOR RESEARCH BEING LAID. Our $150,000 fundraising goal is for the purpose of paying a researcher to jump-start research into Mitchell Syndrome and possible treatments. We hope to know more soon about possible research that members of the Mitchell Syndrome team want to begin. Stay posted.
Sincerely,
Matt & Michele Herndon with The Mitchell and Friends Foundation
