It’s time to let the world get to know our amazing rare advocates! Each week I will be highlighting an advocate here in my blog as well as social media. If you would like to be featured in the spotlight, please click here.
Parent Advocate | Charcot Marie Tooth Disease Type 4J (CMT4J)
- Ipswich, Massachusetts
- Contact info: Website | Twitter | Facebook | Linked In
- Executive Director of CureCMT4J
- CMT4J affects approximately 25 people worldwide
Why did you become an advocate for your rare disease community? What was happening in that community that made you want to take action?
When our daughter was given the rare, deadly diagnosis of CMT4J, with no cure or treatment, I could not sit back and do nothing. I think it is the hardest thing for a parent to do–to stand by helpless as your child becomes sicker–losing strength, function, ability. Advocacy gives me hope. Advocacy gives me the power to fight and work toward a treatment or cure for my child and others with CMT4J.
What was your first success or defining moment as a rare disease advocate?
My first defining moment as a rare disease advocate came just four months after we formed our foundation. We had gathered our team of scientific investigators for our very first meeting, when one of our lead scientists tapped me on the shoulder and said, “You do know that you’re hosting the world’s first-ever symposium on CMT4J, don’t you?”
Share some of your biggest accomplishments as a rare advocate?
My biggest accomplishments as a rare advocate include: a successful first meeting of scientific investigators; being recognized as a foundation and research goal worthy enough to be included in a NIH-funded grant; our foundation’s funding of the viral vector production to be used in our pre-clinical trials; the birth of our mice–the first-ever knock-in model of our disease!
Share some of the hard realities you faced advocating for your rare disease.
The most difficult part of advocating and pushing for a cure for CMT4J is knowing that we are up against both time and money. Our daughter is severely affected by this disease. We are in a race against time to save hers and others lives. The cost to reach a small clinical trial to treat Talia and others is monumental. We’re confident the science is there. Money and time are our greatest obstacles.
What project(s) are you working on now for your community?
We are in the midst of pre-clinical trials with gene therapy in mice. Proof of concept will enable us to appeal to FDA for toxicology studies and then a clinical trial. We will also be working on outcome measures/natural history study. In the midst of all of this, I am constantly working on awareness and education of the public and stakeholders/policy makers in the rare disease community.
What advice would you give to an advocate just starting out?
I am an advocate just starting out, so I’m not sure how much advice I have to offer. I would suggest researching as much as you can on your rare disease. Then find out who knows the most about your disease. Look for a cure or treatment. Look to other rare diseases for commonalities and see if a similar approach toward a treatment or cure is possible. Never lose hope.
Why do you find working with advocates from different disease groups beneficial?
Having a child with such a rare disease can be incredibly isolating and lonely. My connections with other rare disease advocates help by making me feel that I am part of a larger community. In our case, the path toward using gene therapy has been made significantly easier by the work of previous and current disease groups using gene therapy. We hope to make the road to get there even easier still.