Can you tell me a little bit about your family’s SADS journey – from diagnosis to where you are today?
Our oldest daughter, Jori, was 27 and at work when she fell straight back, and was gone. Her office was a chiropractor’s, and Dr. Angela Tarjick, a chiropractor, immediately did CPR and called 911 – and was able to bring her back. She spent two weeks in the hospital and they determined she had LQTS, so she was fitted for an ICD. The ICD gave us an extra 9 months with her, but in January of 2016 her husband found her unresponsive. He brought her back, but all her organs began to fail and within hours she passed away.
That’s when we became involved with SADS. We were still getting DNA and genetic testing back, and it wasn’t clear what the markers were. A few weeks after she passed away, I got in touch with a doctor at Johns Hopkins who said, let’s get you connected with SADS and an EP. Myself and my other two daughters were tested. I didn’t have any known gene mutations but was clinically diagnosed via an EKG. Neither of my daughters have clinical issues – but we’re all treated with beta blockers, and once a year we see a cardiologist and EP.
We have a saying in our family – if you hear hooves and you think it’s a horse, you need to think it’s a zebra. We’re the zebras.
Through the SADS Foundation, getting to know other families and their stories and journeys has been encouraging and inspiring.
What was the greatest obstacle to treatment your family faced?
Doctors just being aware of SADS conditions. When we look back over Jori’s life, there were signs – she had one odd EKG when she was 14, but the attitude of her physician was, she’s healthy and there’s nothing to be concerned about. We did a follow-up three months later and they said everything was fine, but if her pediatrician had known more and could have sent us to an EP earlier on, I feel like she would have had better care throughout her life.
What advice would you give to others in the same situation?
Make sure that you have a good relationship with your cardiologist, and that you trust them. If you feel like you’re not getting the right care, consider finding a new doctor. Even though cardiologists are specialists, they may not know about conditions like Long QT.
How has the SADS Foundation helped your family along their journey?
I reached out to the SADS Foundation about 3 weeks after Jori passed away. We were scrambling for answers. We got in touch with the last doctor she saw, and they told us to get in touch with SADS – that they could help us with what our family needed, and help us with genetics and finding a specialist.
Being able to have a reference is also helpful. SADS had live videos that you can go back and listen to over and over. When you originally get the information it can be so overwhelming, so being able to listen to them again is great. Having a localized online community that is proactive and on the forefront with these conditions is very reassuring.