ONCE UPON A GENE - EPISODE 028 - Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival
Bo Bigelow is the co-founder of Disorder: The Rare Disease Film Festival. He's joining today to talk about life in quarantine and his beautiful daughter Tess, who inspired him to produce a podcast, Stronger Everyday.
EPISODE HIGHLIGHTS
Can you give us a background on yourself?
My rare disease journey started when my daughter Tess was born 10 years ago. After years of looking, we found she has a very rare genetic disorder called USP7. At the time we got her diagnosis and found out about other patients in the world, we knew that she was patient #8 at the time. My wife and I decided to do something to help Tess and to help the other kids with USP7. We created a foundation with other parents with the goal of finding other patients. It's been an interesting journey and a big pivot in my life. Caring for Tess, working on the foundation and rare disease has become a big part of my job.
How has it been for Tess and your family since the quarantine began?
Under normal circumstances, Tess loves school. She seems to be okay with the quarantine for the moment. A lot of the resources that her school has shared with us makes a big difference because we're able to carry over the songs and activities. The continuity has made a big difference. Her school has stepped up in a huge way sharing videos, songs and ideas and it's made all the difference.
Do you feel the social aspect of school is as important as other learning?
There are years where Tess had vision and cognitive issues that lead us to wonder if she knew who was in the room with her, if she cared for people around her and if she felt friendship and love in a way others can see. It's hard to tell sometimes. In the last few years, she's really turned a corning in terms of the social piece. Although she's doing well at home right now, I know she's missing the social piece and she's thinking about her friends and wondering when she'll see them again.
What are some of Tess' health issues and why's it especially important for her to be home?
We are in the land of the unknown with USP7. It's so rare and so little is known about it that all we really know is how it affects various systems. We know she has GI issues, which is affected by covid-19. What we don't know is how Tess' system would respond, but we know it wouldn't be good. We can't rely on her to cough things up and deal with congestion issues because she doesn't know how to do that, so we really don't want her getting sick.
Before quarantine, what were your typical outlets?
That's really important, especially if you're dealing with someone with significant disabilities and a lot is asked of you. It's important to have something to do that has nothing to do with them. Exercise has been a really big one for my wife and me. For me, film is also a big outlet. It's hard to think about what you like. It takes time to re-discover what you love, but it's critical to do.
With your foundation, is it more about finding community or treatments and cures?
It's all about research and finding other patients is a piece of that. The more people we find, the more we'll know about the phenotype and symptoms. I'm a big believer in community, but it's not what we do. We're raising money to fund research and get to a cure. We have a Facebook group for parents that's not so much about our foundation, but serves as a community for the parents.
What do you suggest for people who are searching for others with a rare disease and feeling alone in their diagnosis?
That's a hard place to be and I remember that feeling. You're going to get comfortable talking about the disease and you're going to be as loud as possible in as many ways as you can find. Getting on Twitter is a great thing to do. If you're the only one in the world, there's a method this guy named Matt Might came up with. His method is how we found our group when we thought Tess was the only one in the world. Matt had this specific way to write a blog post to be an internet beacon that people will find when they search online for symptoms. If you're a small group of patients and know there's others, there's a lot of value in being vocal and getting out there because people often get a diagnosis and they stop searching for other pieces of a bigger picture. Creating a film is effective if you want to put that out and ask people to share it.
How have your goals and your focus changed over the years since having Tess?
For many years, it's been about communication. For a long time, it was about getting her to walk and we were only focused on that. After Tess learned to walk, we shifted our focus to communication because we know she wants to communicate and she gets frustrated when she can't. That's been our priority for a few years now and we look at it in terms of making progress and not comparing.
What wisdom do you have for other dads, male caregivers and families who have just received a diagnosis?
I think we need more dads. I know they're out there and when I'm able to connect with one, I'm always really happy. It's hard to talk about this stuff and it took me awhile to be able to talk about, but I found it empowering once I did start talking about it. The more dads to get involved, the better. I think everyone needs to know that this is a small world. When you start talking about your disease, going to conferences, blogging, podcasting or whatever thing you're doing to work on your rare disease- once you start doing it you see the same people popping up. Everyone is open, ready to get on the phone or to meet up. People want to help and they don't want to see you recreate stuff they've already created and they're willing to share. Just ask and you'll be surprised what people are willing to do to help.
LINKS AND RESOURCES MENTIONED
Disorder: The Rare Disease Film Festival
Episode 15: Films and Fatherhood with Daniel DeFabio
Discovering new diseases with the internet: How to find a matching patient
Foundation for USP7 Related Diseases
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