Name: Elizabeth Napolilli
Which SADS condition do you have? Long QT Syndrome- Type 1
When were you diagnosed? I began treatment in about 2000 with beta blockers but my diagnosis was confirmed in 2019 with genetic testing.
How are you treated? ICD
How/when were you diagnosed?
My pediatric cardiologist suspected Long QT back around 2000 based on family history of my mom’s sudden death at 35. I had syncopal episodes in high school which supported the diagnosis of Long QT and I got an ICD. Then I was definitively diagnosed in 2019 with a gene test.
What has been the biggest challenge you’ve faced living with your diagnosis?
The biggest challenges have been facing each surgery and planning for a family. I’ve had 3 surgeries so far including lead extraction and there will be more to come. Long QT is autosomal dominant so planning for a family knowing there is a 50/50 chance of passing the gene on has been a challenge as well.
What is one positive thing that has come out of your diagnosis?
I went a long time “maybe” having Long QT. I’ve found some comfort with my diagnosis via genetic testing and now can live my life managing the known rather than unknown. Long QT is manageable and there is a supportive community.
What encouragement or advice would you give someone who has just been diagnosed with your condition?
Long QT syndrome is manageable! It is scary because of the risks but it is totally manageable. I think awareness of the condition and spreading knowledge of the condition to those that may not know they have it is so important. Once you know you have it, your doctor will help you and the condition can be managed.
What does your day-to-day life look like?
It looks completely normal. I’m in PA school (with a passion for cardiology) so I go to class, study, and repeat. My day to day life really hasn’t been complicated by Long QT syndrome. I just have my yearly check-ups and surgeries about every 7 years.
What are your favorite hobbies and activities?
I like to read, explore my town and the outdoors, yoga, and home improvement stuff. I think I’m not allowed to go scuba diving and go near construction sites because of my ICD but that is about all of my restrictions!
How has the SADS Foundation been helpful to you?
The SADS Foundation has offered a supportive community. They’ve helped me find a doctor in a new city and helped me get involved for the cause as well. Very grateful.