It’s time to let the world get to know our amazing rare advocates! Each month 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 | USP7-Related Diseases
- Falmouth, ME
- Chairman, Co-Founder, Director of Foundation for USP7-Related Diseases
- Contact info: Email | Twitter | Facebook | Linked-In
- USP7-Related Diseases affects 22 people worldwide
- Passionate about: Research, Patient Support, General Community Awareness
Why did you become an advocate for your rare disease community? What was happening in that community that made you want to take action?
Our daughter Tess’s disease is so rare it doesn’t have a name. She was only the 8th case diagnosed in the world. No one else was going to speak for her and get her what she needs. She was being left behind and no one was going to do anything about it if we didn’t. I started telling her story in a blog and weekly podcast called STRONGER EVERY DAY.
What was your first success or defining moment as a rare disease advocate?
My defining moment was the day my wife and I learned that there were other patients. We’d identified the mutated gene through whole exome sequencing, but geneticists told us they didn’t know enough about the gene to help us with the disease. We used social media to put the word out, and less than 24 hours later, we were on the phone with researchers at Baylor in Texas, who were studying the gene.
Share some of your biggest accomplishments as a rare advocate?
Connecting with other USP7 patients in person in Houston last April. Finding more and more patients worldwide. Getting an amazing IEP for our daughter. Arranging for her to have an AAC device and start talking to us. Starting Maine Rare and getting the conversation going among parents and caregivers in Maine. Starting my STRONGER EVERY DAY podcast over two years ago.
Share some of the hard realities you faced advocating for your rare disease.
There are a million voices right now on the internet. Almost all of them are about stuff other than our disease. It’s hard to be heard these days, even if you really need help. It takes a lot of time and energy to be heard.
What project(s) are you working on now for your community?
My wife and I have started a foundation (usp7.org) to cure the neurodevelopmental disease of the Tess and the other 21 patients. We’ll find this cure by (1) funding research and (2) finding other patients. I’m also starting a rare disease film festival called DISORDER in Boston this October, where a short film about Tess will make its debut.
What advice would you give to an advocate just starting out?
Take breaks. Spend time talking to your partner about things other than arrangements and therapies–things like love, and why the two of you got together to begin with. Be sure to get on the phone as much as you can with other advocates who’ve been doing this a while–they have so much info to share.
Why do you find working with advocates from different disease groups beneficial?
Even though we’re all dealing with different rare diseases, our struggles are pretty similar. We all want many of the same things. There isn’t a roadmap for doing this work, but speaking to others is the next best thing. And people are often generous with their time, no matter how busy they are.