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

I was diagnosed with Long QT when I was eight years old, and was able to get genetic testing as an adult to identify that I have multiple LQTS Type 2 mutations. As a child in the ‘90s, the doctors knew very little about the different types so I was told that if I got scared, ran, played contact sports, or went on a roller coaster, I might die. While it was pretty scary, I didn’t have to run the mile in school and always got to be the one who did the scaring on Halloween, so child me counted that as a serious win.

In my thirties, I had a breakthrough cardiac event after I was startled awake and jumped out of bed. I woke up on the floor, having fallen flat on my face. After talking with my cardiologist, we decided to have a defibrillator placed. It was a blessing because I ended up having five events in thirteen months; three of those times I went straight into ventricular fibrillation and my device saved my life. My triggers have been loud noises, fever, sleeping, and stress (very easy things to avoid, to be sure). After my last event, I became unable to work and now I’m on disability (or as I like to say, I’ve retired in my thirties). Since starting Mexiletine my events have been controlled and this winter solstice marks the three year anniversary since my last event.

What have been some of the biggest challenges you’ve faced with your diagnosis?

One of the hardest things for me about my SADS condition is that it’s an invisible disability. I had a major surgery not too long ago and the doctor said that I’d recover fine because I was “young and healthy.” Internally I cringed because I might be young, but I am not healthy. People, even doctors, don’t always know how to deal with a young person whose heart could capriciously stop; sometimes they’re uncomfortable or afraid to treat me because they aren’t familiar with LQTS. I’ve learned to be my own advocate because I have had more than one provider try to prescribe drugs that could have interactions—on one notable occasion, a PA prescribed two… in the same visit (shocking, yes, but thankfully not literally shocking).

Navigating personal interactions can also be hard. When my events started in earnest, I lost some friends who couldn’t live with someone who was constantly on the verge of death in their life.

What advice would you give to others with a similar diagnosis?

My meditation group gave me great advice when I was struggling with anxiety; if you are breathing and your heart is beating, it’s a good moment—so enjoy it because you don’t know how many more you’re going to have. On a practical level I’d say if your doctor has recommended getting an ICD, get the ICD. It does in fact hurt like getting kicked in the chest by a horse, but the alternative is not being here to someday get kicked in the chest by a horse and be able to compare (also have an electrifying sense of humor).

If you’re a parent and your child has been diagnosed with a SADS condition, I am sure you’re distraught. But as a person who has spent my whole life with this disorder, I’ve never felt that my life has been diminished. I learned to make lifestyle choices and I didn’t wait to do things I wanted to do—not because I was scared, but because I understood that life is precious and I’m lucky to be here.

And most importantly always remember that there are others, like me, out there who know exactly what you are going through. You are not alone. You are a warrior. And you will survive.