Our journey starts with my husband’s daughter, who was having cardiac symptoms. The doctors didn’t know what was going on, so they did genetic testing, and found out she carried one of the mutations of Brugada Syndrome.
At that time, my husband and I had one son – Daniel – who was tiny, probably only four or five months old at the time. And we live in a really rural area – in Humboldt County, about two hours away from Oregon. We’re very isolated out here.
I got the phone call from my husband, and he said, Hey, we need to get Daniel checked out. He said his daughter was very sick, in the hospital, with a genetic condition. So we took Daniel to our local cardiologist, who looked at the EKG and echocardiogram and said everything looked fine. He said he’d send the EKG out to his colleague at UCSF – and after that, we got a phone call saying that we needed to bring Daniel to UCSF for further testing since his EKG did show up abnormal. They did more tests as well as genetic testing and sure enough, they said he did have the SCN5A Brugada Syndrome gene like his father.
At UCSF they did a family history and discovered there were people in my husband’s family who died very young and suddenly as well as others with heart issues. We’d never thought the deaths could be linked. They did genetic testing on Daniel, and he has the same Brugada mutation as his dad. They told my husband that it was very important for him to keep up with doctor’s appointments, but my husband was in denial at the time, felt healthy, and had no symptoms – he didn’t see the need, and was more focused on his daughter getting better like any parent’s focus would be.
About two years later, my husband’s daughter – Daniel’s half-sibling – passed away suddenly. That was a hard hit, and my husband lost trust in medical care, and got skeptical. But I really pushed to keep having Daniel seen. Every six months, I’d take Daniel to the same amazing doctor at UCSF. Daniel’s now 12 years old, going on 13. He sees the same doctor, is healthy, and has few restrictions.
A few years later, I was pregnant with Ruby. I knew we needed to think about whether she’d have Brugada Syndrome, so we started monitoring her while I was pregnant, and she started going to UCSF at the age of two months old; they did genetic testing, EKGs, and echocardiograms. Just like her brother, she also inherited the same gene mutation as her father.
Ruby is a happy and healthy girl, very lively, and loves to be in all sorts of activities and sports – she’s very social! We just have to be on top of it if she gets sick – like any other child with Brugada Syndrome, we really control her fevers. She gets febrile seizures if they’re too high.
I continue to monitor my kids, and check in with their doctor, and educate their school system. Education is so important, especially in our rural area – every time we see a doctor, or go to the ER, they think of Brugada Syndrome as something that only affects older people. My kids also each have their own AED, and their teachers know how to use it just in case.
My husband passed away at the end of December in 2018 of a Sudden Cardiac Arrest at 34 years old due to Brugada Syndrome. His death was a real eye-opener; he didn’t think anything would happen to him since he didn’t have symptoms, so he didn’t go to the doctor. So even if you feel okay with one of these conditions, it’s super important to do follow-ups with your doctor and follow the directions of the specialists.
How did you and Ruby get involved with the SADS Foundation?
I started searching for community platforms online where I could find others that have similar diagnosis like my children. I wanted to find others that understood what it’s like to have children living with Brugada Syndrome, as well as a place I can get the most up to date information. That’s how I came across the SADS Foundation.
I’m so glad that we found the Project Sunshine Rare Disease TelePlay program through the SADS Foundation. We don’t know anyone else in our rural area who has Brugada Syndrome, and it’s awesome for Ruby be able to connect with other kids who have rare conditions. Ruby really enjoys it. And she really looks forward to the different topics they have – like trivia – every month.
Ruby was selected to be featured at Project Sunshine’s annual gala video, and will join them in NYC this May to speak at their event.
What advice would you give to other parents who have recently had a child diagnosed with a SADS condition?
It’s important to remember that each child is different. Tune into what your child’s need are, ask as many questions as possible to your providers, and make sure you’re on top of making appointments. And I feel like knowing your family history is huge. Sometimes it’s a warning sign. You don’t always connect these things – like, oh, my auntie passed away at a young age, or someone else in the family suddenly passed away young too. We don’t question those things, we just think it’s part of life and these things happen, but sometimes you need to dig a little deeper. So getting to know your family health history is very important.