Name: Karly Gonthier 

Age: 13

Which SADS condition do you have? CPVT

When were you diagnosed? June, 2019

How are you treated? (Beta blocker, ICD, etc.) Beta Blocker, calcium channel blocker

Personal Questions

How/when were you diagnosed? The day after my 13th birthday, I collapsed during a dance dress rehearsal.  This was the 3rd time I had “passed out” like this.

What has been the biggest challenge you’ve faced in living with your diagnosis? Not being able to participate in summer activities and my favorite sports

What is one positive thing that has come out of your diagnosis? I got to travel to Minnesota to see Dr. Ackerman at the Mayo Clinic

What does your day-to-day life look like? In cardio activities always checking my heartrate, and always taking medicine day and night

What are your favorite hobbies and activities? Baking, and cooking, taking walks, spending time with friends

How has the SADS Foundation been helpful to you? I have been able to see others with my condition, older and younger.

Name:  Cian Bennett

Age:  13

Diagnosis:  Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Age of Diagnosis: 13

What led to your diagnosis? 

I had a fainting episode at home and my pediatrician sent me to a cardiologist.  My first visit was okay and they thought it was just vasovagal syncope.  My cardiologist wanted me to follow-up the next year and at the follow-up he decided he wanted to send me home with a holter monitor because he saw a slight change on my EKG that was still considered normal but was different than the prior year.  My holter monitor results showed PVC’s and arrhythmias so he scheduled me for a stress test.  The stress test was very abnormal and showed polymorphic ventricular tachycardia during exercise.  I was then sent to a cardiac electrophysiologist.

Where you involved in any sports or activities that had to be modified or stopped completely when you were diagnosed?

Prior to my diagnosis I was very active.  I love sports. I attended basketball camps, played little league baseball, and played basketball with Upward Sports for many years. When I was diagnosed, I was in 7^th grade athletics at my middle school and was one of the managers for our basketball team.  

After my diagnosis my doctor restricted my physical activity and I am no longer allowed to participate in competitive sports.  I can only do light physical activity with supervision.   I would love to still be able to participate fully in my athletic class at school and try out for sports at school such as basketball.  My doctor says I can still manage sports at school but not play or compete.

What are some of the things that helped you adjust?  What did you do that helped?  Did you develop new interests, if so what were they?

I always loved to play on the X-box and PS4 before my diagnosis but now that I cannot be very physically active, I play on these so much more.  I love Fortnite, Road to the Show 20 and NBA2K.

What were some of the hardest things about being diagnosed?

The hardest thing about my diagnosis is not being able workout and play sports.

What are some of the good things that have happened to you because of your diagnosis and what are some of the things you have learned?

Because of my diagnosis, I met a new friend through the SADS Teen Chat Zoom that I now play Fortnite with on my PS4.  It is nice to be able to talk to someone who has a similar diagnosis as me. 

What was the best thing your friends did to support you?

My friends understand that there are some things I just can’t do anymore but there are other ways I can still be involved in athletics and sports. My coaches at school allowed me to stay in athletics class even though I was very restricted. It made me happy that I could still participate and stay in athletics with my friends.

Medication:

I don’t mind taking my medication because I know it is helping me.  I haven’t really had any issues taking it.  I take Nadolol and Flecainide.

If you could give encouragement to newly diagnosed children or teens what would you tell them?

I would tell anyone diagnosed with my condition that even though I am limited with physical activity and sports, there are other things I can still do.  I am also glad there is medication that can help.  My mom tells me that I just have to think a little differently about things now. I may not be able to do all I could before but I can still do other things I enjoy and I try to focus on that.

Quality of Life:

Physical:  7

Mental:  10

Overall:  10

Name: Ayden

Age: 13

Diagnosis: Long QT type 1; diagnosed at age 12

I was really sick and dehydrated my mom took me to the doctor and they sent me to the ER to get IV fluids. The doctor did an ECG to see if she could give me some medicine to stop puking and noticed an abnormal ECG. Then she referred us to a cardiologist.

I played a lot of sports – I wrestled on a traveling team since I was 5, played baseball, and football. When I saw the cardiologist he did another ECG and it had a prolonged QT interval also and he took me out of sports until we had some more answers. I have an EP now who is awesome! He started me and my sisters (we found out they have LQTS also after genetic tests) on beta blockers. We live in the middle of nowhere so after he was able to help get us AED’s he approved us to do sports while we take betas.

The only thing I really can’t do anymore is swim alone.

The hardest thing about being diagnosed, is that I have always wanted to follow in my dad’s footsteps and join the Army. I want to go to WestPoint and serve in the Army as an officer in the medical field, I still have to talk to a recruiter, but it will be really hard if not impossible to join with LQTS. My dad thinks I can go to school as a civilian and still help. It’s also hard when kids don’t understand my condition, I even had a coach who wouldn’t let me participate in certain things when I had an activity monitor even though the doctor said it was ok.

It helped that my mom and sisters have it too, we can talk about it and the SADS chat group was really cool to get to talk to kids that have the same condition.

I have learned that it’s not something to joke about, I need to take it seriously. Some good things are:   now I am prepared! I take my beta blocker every day and my doctor says that lowers my risk of an episode a lot!

I haven’t been diagnosed for very long, less than a year but I used to take being active and in sports for granted it didn’t seem like a big deal to be involved. After I lost sports for 6 months while we did tests, I missed them a lot. Now I give 100% every practice and event because I am so happy to be able to do them again.

One of my closest friends wanted me to stay for a sleep over and my mom was a little worried, my friend’s mom got CPR certified and showed me her certification and told me that she was trained if anything happened so I didn’t worry.

Sometimes I forget to take my beta blockers, it makes me really nervous!  Now I remind myself every night before bed to remember and take them.

My advice to a newly diagnosed child or teen is to not listen to negative people. Thank your friends and family for supporting you.

(MOM) The encouragement I would give to other parents who have children recently diagnosed would be to join a group, there is so much support and understanding. The people in the groups can be so supportive, even if it’s just to listen to you vent. One piece of advice would be to write your questions down to ask your doctors and to not be afraid to ask them. We are really fortunate to have an amazing EP who takes as much time as it takes at our appointments for me to feel comfortable that my questions have been answered and I understand what our health plans for the kids are.

Quality of life

Physical quality of life:  8

Emotional quality of life:  10

Overall quality of life:  9