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.

Can you tell me a little bit about your family’s SADS journey?

This all started in 1980, on the night of Easter Sunday. My family spent a full day with my oldest brother, and then he went to bed, and died suddenly in his sleep. The autopsy didn’t determine the cause. He was 33 years old, so it left us in shock – how could he have died in his sleep? My parents struggled with how this could have happened, but over the years, we didn’t find an answer.

25 years went by, and we still didn’t have any answers. I went annually to get a cardiac evaluation, even in my twenties, because Charles died at 33. They would check and say that everything looked good. I was frustrated with my doctor’s office because of a billing issue, so I changed practices and went to see Michael Masciello of St. Francis Hospital South Bay Cardiology. He took my family history and asked if anyone else had died suddenly in their sleep – and both my grandfather and first cousin had. Dr. Masciello said that something was going on, so he was sending us to the guru. We went to NYU and saw Dr. Silvia Priori. They asked us to bring in as many family members as we could, or at least their EKGs. I never forgot the feeling of hearing her say, we know the cause of the problem – I could have cried. We went all those years not knowing what was going on.

She said that me and my three siblings all had Short QT Syndrome, and that’s probably what caused my older brother to pass. Many members of my family have SQTS, including my older brother’s children, my sister’s children, and 4 of my nieces and nephews and 2 of their children have been diagnosed as having SQT also. At the time, there were only about 125 people who had it in the world. Because sudden death is usually the first sign, not all people who have SQTS get registered as a patient. I feel fortunate that it was identified in my family. I’ve talked to one other person that has it, who is in Tennessee. It’s bonded my family together – we were overjoyed to have an answer, and overwhelmed that we were facing this, but we’re doing this for the next generation – we don’t want others to experience this same loss.

They told us we needed to get ICDs because there was no other way to prevent episodes. They worked with us diligently, and everyone got ICDs in August 2012. Since the implant, my nephew had a near miss in 2016, and an episode in the gym in 2019 where his ICD saved his life.

It was a shock when my brother passed away, and now having a cause is remarkable. When I tell people in the medical field, I get corrected. I say, “I have Short QT Syndrome,” and they say, “Don’t you mean Long QT Syndrome?” It’s hard to get across. Doctors tend to look at the high side, but not the low side.

What has been the most frustrating part of the process so far?

There’s just not much known about this condition. NYU has tried two different genetic testing companies. We need an expert set of eyes. There needs to be more research done to identify it. The fact that we now have a chance to get answers is very hopeful. I am realistic – they might not be able to find our gene. Testing could be way down the road to identify what’s going on.

What are you looking forward to learning from the researchers?

For our family, if the researchers could identify what’s causing our SQTS, then maybe there wouldn’t be a recurrence in the next generation of our family. It’s affected every generation so far, and I don’t want every generation to experience sudden death. That would be a miracle.

And I don’t want to stop there. What about others that could be experiencing it, but don’t know it? It’s so important to spread awareness.

How did you find the SADS Foundation, and how has it helped your family?

I did a lot of research early on, and wanted to talk to someone who had SQTS. SADS listed it as one of their conditions, but there was nobody in their database who had it. Even NYU could only have me speak to those who had different kinds of arrhythmias. SADS is working for the cause. It represents hope to us, and other families with arrhythmias.

Name: Tisha M.

Age: 36 y/o

Which SADS condition do you have? Brugada Syndrome

When were you diagnosed? 12/27/19

How are you treated? (Beta blocker, ICD, etc.) ICD

How/when were you diagnosed?

I went to Urgent Care on 12/27/19 with complaints of flu symptoms. When the nurses checked my heart rate it was in the 220s. They did an EKG and I was in ventricular tachycardia. They immediately called 911 and sent me to the ER. My diagnosis was Brugada syndrome. I was in the CCU from 12/27-12/31. I had an ICD put in on 12/31 and was discharged the same day. I am recovering and getting back to the groove of things.

What has been the biggest challenge you’ve faced in living with your diagnosis? I have 2 young kids (1 and 3 y/o) and if it weren’t for the flu and urgent care visit that sent me to the ER I probably would’ve been dead or paralyzed. 

What is one positive thing that has come out of your diagnosis?

Getting the ICD which will save my life if ever I go in that rhythm again. To be able to get genetically tested and get my kids tested if I carry the gene potentially saving their lives. Raise awareness to encourage friends and family members to get tested if there’s any history of sudden death in the family – potentially be able to save their lives as well. I am Filipino and my risk for the Brugada syndrome is higher as it is common in Southeast Asian population.

What encouragement or advice would you give someone who has just been diagnosed with your condition?

To be able to find out sooner and get the proper preventative measures (ICD) is a blessing that will allow us to live a normal life.

What does your day-to-day life look like?

I was just diagnosed and just had an ICD placed a week ago. I am blessed to be alive, to be able to spend more time with my husband and kids, blessed to be able to bring awareness to this syndrome.

What are your favorite hobbies and activities?

Traveling, working out (I ran half marathons and did crossfit prior to having kids and up until I had my 2nd child. No symptoms of Brugada Syndrome back then), watching movies/TV series.

February 28th is Rare Disease Day.
The main objective is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

While all SADS conditions are considered rare diseases, we want to focus on Timothy Syndrome and the rare disease advocacy efforts of one of our SADS families.      

SADS staff had the opportunity to interview Courtney Waller, whose daughter lives with  Timothy Syndrome, about her experience with rare disease advocacy.

Can you tell us about Timothy Syndrome and how it has affected your family?   

Timothy Syndrome completely turned our family upside down in the beginning.  We knew before her arrival that Theodora had Long QT Syndrome, thanks to a research study at UW Madison.  We would not know it was one of the rarest forms until she was born with the hallmark syndactyly. It was very hard and super upsetting for all of us to know that the prognosis was much worse than for other types of Long QT Syndrome, so there was definitely a grieving process we went through as a family.  
But, as she has grown, we have all adjusted.  The biggest effect I have seen is how we have all, in an effort to keep Theodora as safe and healthy as possible, even the younger of her older siblings make better lifestyle choices, and help her to do the same.
And we have definitely become closer as a family.

You started as an advocate for your daughter then became an advocate for Timothy Syndrome and rare diseases.  Can you tell us how that happened?

I have always been an activist, since I was a young kid.  As I got older and started a family it sort of fell by the wayside.  When Theodora was born, there was not a lot of information on Timothy Syndrome, no cure and no real ongoing research.   I guess, I felt I had to do something to help her…so I returned to my roots. I remember doing a simple Google search for rare disease support groups and found RDLA, an organization that works on legislation specific to the rare disease community.  It just happened they were having a conference in DC the following month. I bought a plane ticket and began my journey as a rare disease advocate.

I know that a painting of Theodora was featured in an art exhibit. Can you tell us a little about that and how your family got involved?  

I actually met Patricia Weltin at the RDLA conference that first year.  She is the president of the nonprofit and mastermind behind Beyond the Diagnosis.  A few weeks after DC, she called and asked if I wanted Theodora involved. The beauty of this exhibit is not just the children themselves, all of whom have a rare disease.  It isn’t even the idea of painting portraits of them, or that Patricia has the goal of one day having portraits of all 7000 rare diseases.  It is that this project has brought patients, artists, researchers and doctors from all over the world together in a super unique and visually amazing way.  If you had told me when Theodora was first born that I would see her portrait and hear the words and a description of Timothy Syndrome on CBS Sunday Morning, I never would have believed it.  This exhibit made that happen. So far, Theodora’s portrait by artist Jennifer Cahoon has been to the NIH, FDA, Feinstein School of Medicine, University of Alabama and Mayo Clinic in conjunction with the Smithsonian Human Genome exhibit, just to name a few.

What other rare disease advocacy efforts have you been involved with?

The first few years I worked at the federal level.  However, for the past two years I have worked almost exclusively at the state level.  
This includes trying to build a rare disease caucus at the state level which can help guide legislation that is good for our community.
On a more social side, we are building a community and planning events in 2019 and beyond for all of us here in Wisconsin who are affected by rare diseases to get together.

Do you have any advice for patients or caregivers who want to get more involved in rare disease advocacy?    

The absolute best thing you can do, and where I have seen a lot of advocates get discouraged, is to know your legislature beforehand.  Most advocates are told that their story is THE most important thing they have and the way to get results. And it IS important. It is the reason we do what we do, and it can change hearts and minds.  But, you can tailor your story to the thing your legislator cares the most about, (what did they run on? Are they a finance guy? Business leader? Former social worker?) and get better results because you are speaking directly to what is important to them.  Never get rid of your story….just tailor your speech in a way that directly impacts the person you want to help you make the change you seek.

If you would like to donate to TSA or the SADS Foundation in Theodora’s honor, you can do so here.