By Jocelyn Duff, Family Leadership Series participant.
A letter to MFOFC and Susan Nadworny, former Regional Coordinator of the Northeast Region. Dated July 21, 2016
I’ve thought about you and MFOFC quite a bit over the past few months. It was just over a year ago that I took part in the MFOFC Family Leadership Series. I’ve wanted to thank you so many times for helping me to discover the tools I needed (or already had, but didn’t know) to believe in myself and in my ability to better advocate for my daughter and many others.
You may recall that my 10 year-old daughter, Talia, has Trisomy 21, but also had exhibited muscular weakness since birth, out of proportion for Down Syndrome, and then later became progressively weaker beginning around age four. After five long years we finally received a diagnosis. Over the phone, no less. I was heartbroken to learn that she has an ultra-rare form of Charcot Marie Tooth Disease, known as CMT4J. It is a neurodegenerative disease that can be quite similar to ALS. Talia has a very severe form and has progressed rapidly over the past year, moving from her bright yellow walker to wheelchair and losing most of the strength in her upper arms. It is now also affecting her respiratory capacity. There is no treatment or cure.
After much soul-searching, research and traveling to meet with any physicians or researchers who knew this disease, we found ourselves at Vanderbilt University this past April. Here we learned that there was, indeed, the possibility of a cure. Since then I have not looked back. In just over a month we formed a non-profit, developed a website to educate, raise funds, create awareness for rare diseases, find others with CMT4J, and raised over $30k to gather scientific investigators to address an expedited path towards therapeutic development of a cure or treatment for Talia’s disease. We are set to meet with a team of world-renowned clinicians and scientists this September.
Because rare diseases affect so few people, big pharma and government-funders have little interest. It is not uncommon for families to shoulder the enormous challenge of funding and finding a cure or treatment themselves.
I’m reaching out to you because I truly feel that my experience with MFOFC was significant in helping me to get here. I don’t think I knew it at the time, but I certainly believe it now. I hope you’ll take a moment to check out our website, read about Talia’s story, and share this with your team and other MFOFC’ers. We have a long way to go to get to our endpoint, but we’re on our way.
The Talia Duff Foundation To Cure CMT4J
The Talia Duff Foundation Inc. (Tax ID: 81-3019217) is a Massachusetts corporation. Federal tax exempt status as a public charity under Section 501(c)(3) has been approved by the US Internal Revenue Service.