How did you get involved with the SADS Foundation?

I was at the University of Colorado in late 1999, finishing my residency in internal medicine. In my third year, I was a genetics and cell biology major. I designed a rotation where I could go out to genetic clinics – including one that was studying what we called, at the time, ARVD (now known as ARVC). We were trying to refine the locus – it was locus number three of the ARVD locus on chromosome 14. I was trying to find the gene that the disease was linked to in families with this condition. During this time, I heard about the SADS Foundation – but I actually knew about Dr. Michael Vincent before that, when I was at the University of Minnesota in medical school.

I did an elective in medical genetics at Mayo Clinic during medical school, and saw a lot of patients with SADS conditions. At that time, I was planning to go into a pediatrics residency, but after that rotation in medical genetics at Mayo, I decided to focus on genetics in adults. I heard of Dr. Vincent, and read his articles, during that time. I also met him at the American College of Physicians, and he was so passionate about researching these diseases.

In my very last rotation of medical school, I worked with a cardiologist named Dr. Naip Tuna at Regions Hospital in St. Paul. He started me collecting electrocardiograms, including one of Brugada Syndrome. Dr. Tuna would say, “Carl, if you do not think of the condition, you will not diagnose the condition.” If you don’t know about conditions like SADS, and don’t have the curiosity to learn, you won’t be able to identify these rare conditions.

The first SADS conference I attended was the second national conference in Atlanta, and I went to the conferences in Salt Lake and Chicago too. I’ve always had an interest in these genetic heart conditions, despite being a general primary care internist, because of those research projects in ARVC and my time with Dr. Tuna.

How, and why, did you get involved in advocacy work?

Because of my genetics background, I’m interested in rare diseases in general. These past two years, I’ve been doing advocacy with SADS and the EveryLife Foundation for Rare Diseases. The two legislative “asks” I’ve focused on are the Access to Genetic Counselor Services Act, as well as telehealth expansion (which is important not only to rare disease patients, but also to patients who live in rural areas). I’ve also done advocacy day with the American College of Physicians.

We often think of rare diseases as very uncommon, but when you add all those rare conditions together, 1 out of 10 Americans have a rare condition. Collectively, they’re very common.

What advice would you give to someone who’s interested in doing advocacy volunteering?

Groups like the EveryLife Foundation help prepare you in the week leading up to the advocacy day. The preparation doesn’t take a lot of time or effort, especially now that everything is digital – they’re on Zoom, and you can do them very quickly. And if you can’t attend, you can always watch afterwards.

And all advocacy is not on a national level. I’m interested in community education and local advocacy, too. Even if you’re not interested in the political side of things, you can also be an advocate through approaching your local media and getting in the paper, or advocating on social media. If you want to do advocacy at a national level, I would recommend getting a little bit of training – it helps you refine your elevator pitch.

When you do Rare Disease Day, there will be lots of people with lots of different diseases asking for legislative support. It’s important to learn how to tell your story quickly, since you don’t have a lot of time.

Are you interested in becoming a SADS Advocate? You can sign up here.