When Joelle was 12, she passed out in church – and testing revealed that the culprit was ARVC. And it progressed quickly – a year after diagnosis, at 13, Joelle got an ICD to help regulate the “electrical chaos” in her heart.

Joelle had been a competitive figure skater before her diagnosis, and returned to the rink after her ICD implantation while being carefully monitored by her doctors. But it was hard for her to compete, and just a few months later, Joelle went into heart failure – and required a transplant.

She spent 48 days in the hospital before receiving a donor heart, and the transplant at Mayo Clinic was successful. Six weeks later, she was able to get back to the rink – and now competes as a figure skater again. Joelle now wants to go to med school and become a surgeon when she’s older, specifically pediatric cardiology.

“If it wasn’t for my donor and their family, I wouldn’t have received this heart, and might not be here today,” says Joelle. “it completely changes your life – it’s amazing.”

We spoke with Holly, Joelle’s mom, about the heart transplant process, and her advice for other families.

What challenges did Joelle face after diagnosis?

From my perspective, some of the biggest challenges were mental challenges, including being told that Joelle’s activity would need to be limited. She was a junior high athlete at the time, and very competitive. Her sports were her drive, and to be told that she had to stop playing volleyball and basketball, and stop figure skating, was difficult for her to hear. Dr. Michael Ackerman, her doctor, was very sensitive to her mental health, and allowed her to continue to skate while being supervised and educated about her limits so she could enjoy life safely.

What would you want other ARVC families to know about the process of heart transplant, especially for a young person?

Make sure to educate yourself! Everybody’s journey is different, and patience is very important, even though it’s frustrating to be patient. It pays off in the waiting process – while you’re waiting for a heart – and during the healing process. You have to be willing to deal with the deck you’ve been dealt, and just go with it.

Not only is the transplant process challenging for the patient, but it is also challenging for the caregiver. It’s important for the caregiver to take care of themselves. And make sure to take advantage of the time you’re in the hospital with your child. Although you’ll be well-prepared for discharge, you won’t truly know the challenges you will face until the time comes.

This process can be long and exhausting, and allowing your child to be both educated, and be a part of the decision-making process, is instrumental to success. 

What advice would you give to other parents who have recently received an ARVC diagnosis?

Make connections with other people. Dr. Ackerman connected us with another patient going through something similar, and that was our success. They helped educate us, and helped us learn more about the process. They were able to give us advice, be someone we could bounce things off of, and were there when we needed to vent. That’s what you need the most – a support system.

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 SADS journey?

I’m a junior in high school. I used to be figure skater until I was diagnosed with ARVC, and that’s how I found out that I had it – I was skating when I had some arrhythmias. After a long process of being diagnosed, and going through a couple of surgeries, they decided that ARVC was what I had. That happened about a year and a half ago.

What was your reaction to your diagnosis?

I had a lot of free time after the diagnosis – when I was a competitive figure skater, that took up most of my day. I’d go to school and then go to the ice rink, and that would be it. So I had a lot of time, and I couldn’t join sports. I wanted to help people with similar conditions to mine, whether it be a SADS condition or a heart condition – even something they might not know they had. That’s why I started my charity, Heartfelt Harmonies, so I could help others.

Heartfelt Harmonies donates AEDs to organizations and youth groups who need them but might not be able to purchase them, so these facilities can be protected from cardiac events. I try to donate to underprivileged areas because a lot of people there might have an undiagnosed condition, and so they’re more likely to suffer from a cardiac event.

We’re hosting a photography exhibition with photos from all around Ireland in December; my grandfather was a famous Irish photographer and when he passed away, he left all his photos on flash drives. We printed them out and we’re going to raise money to get more AEDs.

What advice would you give to someone who was newly diagnosed with a SADS condition?

While initially being scared to hear about my condition, I have found that talking to others with similar conditions who had been through similar events was really helpful. ARVC being a hidden condition makes it very hard to find support and people who are able to understand.

Age: 40

Which SADS condition do you have? ARVC

When were you diagnosed? 2012 at age 32.

How are you treated? (Beta blocker, ICD, etc.) ablation in 2014, sotalol and an ICD

How/when were you diagnosed?

I was 32 years old and about 6 weeks pregnant with my second child when I went into Sudden Cardiac arrest out of nowhere. I was shocked twice at the hospital after my heart rate reached 300 And I was in SVT.  They had no idea why it happened until I took a genetic test for ARVC. I then had an ICD implanted at 5 months pregnant.

What has been the biggest challenge you’ve faced in living with your diagnosis?

 Not being able to work out, run, play soccer, chase my kids around.  And all the limitations ARVC causes. It’s an unbelievable disease that gets worse when you do anything high endurance. It’s really a crazy type heart disease. And mostly…that I passed both of my genes down to my son. That has been the hardest to accept. We keep him out of high endurance sports as well and to think that he will have to watch out for this the rest of his life or possibly develop it (50/50 chance)…it’s gut wrenching. 

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

The people I’ve met. The wonderful doctors at St Luke’s Hospital in Wisconsin…the phenomenal doctors at Johns Hopkins that we’re able to perform my tricky ablation…and the overall thankfulness of still being alive! And my baby surviving. Things could have turned out much different.

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

 Get in contact with Johns Hopkins immediately! Their ARVC research is amazing. And so are all of the doctors. They also encourage you to talk to other patients with ARVC which has helped a lot. And overall just be an advocate for yourself and ask a lot of questions! Knowledge really is power. Also know that you can live with this. As hard as it is some days…you can still live a very full life!

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

Lots of time with family, full-time job, vacations. But it’s also some days of feeling really tired or dizzy. Having arrhythmias and out of breath. But each day is different and I still do all that I can!

What are your favorite hobbies and activities? 

Reading, spending time with my husband and children, walking, baking. 

How has the SADS Foundation been helpful to you?

It has been helpful to read all of the stories I have looked through. To know the happy and the sad ones and to appreciate how precious life is! But to also advocate for AED’s and CPR. And To know that I’m not alone.

Name: Kerri Dyer

Age: 38 years

Which SADS condition do you have? ARVC

When were you diagnosed? 2014

How are you treated? (Beta blocker, ICD, etc.) 2 different beta blockers and ICD fitted

How/when were you diagnosed? 

Collapsed at home with pulse of 276 bpm, taken to hospital where my heart stopped, then started in normal rhythm. Had 3 MRI scans and they diagnosed it as ARVC.

What has been the biggest challenge you’ve faced in living with your diagnosis? 

Not being able to run around, play football, etc. with my son and acting like everything is fine when really I feel ill.

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

Don’t let the condition rule your life. Everyone has different severities of the illness but live to the best of your abilities. But also don’t push yourself to do more than what you can, remember to take breaks when possible.

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

  Like a normal mum of an active 8 year old!

What are your favorite hobbies and activities? 

I love swimming and singing.

How has the SADS Foundation been helpful to you?

They have helped me understand my condition and have also shown me that I’m not alone.