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

I’m a junior in high school. I used to be figure skater until I was diagnosed with ARVC, and that’s how I found out that I had it – I was skating when I had some arrhythmias. After a long process of being diagnosed, and going through a couple of surgeries, they decided that ARVC was what I had. That happened about a year and a half ago.

What was your reaction to your diagnosis?

I had a lot of free time after the diagnosis – when I was a competitive figure skater, that took up most of my day. I’d go to school and then go to the ice rink, and that would be it. So I had a lot of time, and I couldn’t join sports. I wanted to help people with similar conditions to mine, whether it be a SADS condition or a heart condition – even something they might not know they had. That’s why I started my charity, Heartfelt Harmonies, so I could help others.

Heartfelt Harmonies donates AEDs to organizations and youth groups who need them but might not be able to purchase them, so these facilities can be protected from cardiac events. I try to donate to underprivileged areas because a lot of people there might have an undiagnosed condition, and so they’re more likely to suffer from a cardiac event.

We’re hosting a photography exhibition with photos from all around Ireland in December; my grandfather was a famous Irish photographer and when he passed away, he left all his photos on flash drives. We printed them out and we’re going to raise money to get more AEDs.

What advice would you give to someone who was newly diagnosed with a SADS condition?

While initially being scared to hear about my condition, I have found that talking to others with similar conditions who had been through similar events was really helpful. ARVC being a hidden condition makes it very hard to find support and people who are able to understand.

Aurora went into tachycardia in February 2019, shortly after turning 2. She has Long QT Syndrome and she had RSV and rhinovirus. It was 3AM and my husband and I used our AED and CPR to save her life before paramedics arrived. She is now 3. 

Name: Justin Price

Age: 4 years old

Which SADS condition do you have?  Brugada Syndrome

When were you diagnosed? He was diagnosed one week after his first birthday (April 2016) after going into cardiac arrest at home.

How are you treated? He was treated with an ICD, propanol and cilostazol. He had an ablation August 2018.

How were you diagnosed?

Justin was diagnosed a week after turning 1. On his first birthday at his one year check up, the doctor heard a murmur and said it could be nothing. A week later I put him to bed and a few hours later he woke up screaming. His nose started to bleed for no reason, so we rushed him to our local ER with a heart rate of 303. They immediately transferred us to children’s hospital of Philadelphia, and based on his EKG, he showed full blown Brugada. It wasn’t until his genetic testing came back, did we find out he has four different mutations of Brugada Syndrome. With further genetic testing it also came back the whole family has Brugada. Yes that’s right, both mom and dad and his older sister.

What is one positive thing that has come out of your diagnosis? 

His diagnosed ended up saving his family. Neither of us knew we carried this gene.

What does your day-to-day life look like? 

Our day to day life as first was crazy. We bounced back and forth from home to Children’s Hospital of Philadelphia (CHOP), living in slight fear from several cardiac arrest. Justin had an ablation in August 2018 which gave him the ability to be able to live the amazing life he has now. We are truly thankful for his team of doctors at CHOP.

Will was 6 years old when he first experienced a fainting episode. He was walking up the hill with his dad & sister one day from school when he fainted. We couldn’t tell if the kids were making it up & playing a joke on dad while I was at work. The next morning he fainted again. I work for a private practice as a Nurse. Will’s general practitioner (GP) wasn’t taking chances, so I collected him for a cardiograph. She sent it away for formal interpretation.

Monday morning I walked in to work my shift and the doctor called me in to tell me this was serious. The results came back as Brugada Syndrome and the doctor explained how dangerous this could be for Will. The drive back to tell my family and pick up Will to take him to emergency was spent fighting back tears. We waited all day for the cardiograph to be reported on by a specialist at another hospital. Nope. The doctor told us it was alright to go home since the specialist said it was okay. My gut feeling wasn’t good. At work I told Will’s GP I wasn’t feeling confident and she agreed. She referred us to a specialist at Westmead Children’s Hospital. We were all sent for cardiographs.

I had been a Cardiac Nurse for many years; unfortunately I knew what I was looking for on the cardiographs that were handed to me to walk back to the specialist. I felt sick. He promptly informed us William had Brugada Syndrome and so did I! He then referred us to the appropriate specialist to deal with this. Whilst waiting Will developed a fever. We had been told this could cause a fatal heart rhythm in Brugada patients.We were transferred to Westmead hospital via ambulance. During a 2-3 week stay, Will had a myriad of tests & consults. We both have loop recorders now monitoring us remotely. I began informing family about the rate of passing it on, which was 50%. My nephew, now diagnosed, is 14. We don’t know if our other 2 children have this.

Our biggest struggle was educating others, as nobody knew what this was! Not even the doctors and nurses we came across. We had to convince Will’s school to fundraise for a defibrillator because there was no other assistance. We had to approach the education department because the school struggled to understand just how important a defibrillator was in saving our son’s life. Not friends nor family. We then raised $2,500 to buy our own defibrillator so we could at least feel safe.

Each year we have a new teacher to explain what Brugada Syndrome is, and they typically look at me horrified. The play dates & sleepovers he misses because the parents are reluctant. We are understanding and every day is a challenge, but we try to stay positive never knowing what our future holds. We stand on the sidelines hoping all will be ok so he can play soccer in the plight to help him feel normal. The loop recorder makes him feel “different;” he struggles & will see a psychologist next week. We know we are luckier than many with this condition.

Please share in the hope for a cure! We love our Will & we hope for a future with all our wonderful children.

Name: Tenier Sims

Age: 43​

Which SADS condition do you have? Brugada Syndrome

When were you diagnosed? October 2018

How are you treated? Currently being monitored

How/when were you diagnosed?

I was diagnosed when I became so fatigued that I couldn’t walk, so I went to urgent care and from there I was told that I needed to go straight to the ER when they saw something on my EKG. From there I went to the ER and multiple test were ran and as I waited in the waiting area, an ER doctor came and said, “I believe you may have Brugada Syndrome.” I was later discharged and referred back to my Cardiologist and from looking at my EKG, it was clear and I was officially diagnosed by my Cardiologists on October 5, 2018.

What has been the biggest challenge you’ve faced living with your diagnosis?

The biggest challenge I face is becoming very fatigued at any given time. One minute I can be full of energy and the next second I’m so exhausted to the point I have to sit down for a while. I find my anxiety being high because in the beginning I was afraid to sleep because I didn’t think I was going to wake up.

What is one positive thing that has come out of your diagnosis?

One positive thing that came from this is that even with my diagnosis, I can live a long, healthy and prosperous life. Its not a death sentence because I choose to either beat the disease or let it beat me. I was born a fighter and I will never give up. My motto: I have Brugada but Brugada doesn’t and will never have me.

What are your favorite hobbies and activities?

Some of my favorite hobbies are spending time with my family, crafting, traveling and most importantly shopping.

Name: Paula Best 

Condition: Long QT Syndrome 

Diagnosed: 1999 aged 17

Treatment: Beta Blockers – 160mg Propanol per day 

What has been the biggest challenge you’ve faced in living with your diagnosis?

When my son was born last August, he underwent genetic testing and it was confirmed that he also had Long QT syndrome and commenced Beta Blocker treatment. As much as I worry, I know he will go on to have a happy healthy life undefined by his condition.

What is one positive thing that has come out of your diagnosis?

Never to take life for granted and enjoy every minute. 

What encouragement or advice would you give to someone who has just been diagnosed?

That the life that you want is still possible, by being aware and making sensible adjustments you will go on to have the life that you want and do everything that you thought you could before your diagnosis. 

How has the SADS Foundation been helpful to you?

By broadcasting the FB live sessions with Dr Ackerman; not only have I learned so much about LQT and COVID-19, but I’ve learned so much about LQT syndrome in general.

Name: Samantha Wilder

Age: 30

Which SADS condition do you have? Long QT Syndrome, Type 1

When were you diagnosed? 2002

How are you treated? (Beta blocker, ICD, etc.) Beta Blocker after refusing implantation at 12 to continue playing contact sports

How/when were you diagnosed? A series of escalating events in middle school while going for school records. The first time was chalked up to dehydration, but the second time my pulse was only 60 after running a sub-7 min. mile and blacking out finishing my last lap while living in Wisconsin. I’d also had a “seizure” after being scared four years earlier in Virginia. Thankfully, I somehow ended up at Mayo Clinic sitting across from Dr. Ackerman and have traveled back for my visits ever since.

What has been the biggest challenge you’ve faced in living with your diagnosis? I’m approaching two decades with my diagnosis at such pivotal life phases, so I think it’s shifted. As a high schooler, it was comparing myself to the athlete I was before beta blockers coupled with the exhaustion; in college, it was first dealing with depression and trying to determine how much was medication related and weight gain from a suppressed metabolism; as an adult, it’s been the constant insurance battles; anxiety and uncertainty — whether it was his sentinel event or a heart attack — from losing my Dad suddenly who I inherited LQTS from and never got treated; and receiving drugs to avoid despite clearly instructing providers of my restrictions because they didn’t take them seriously.

What is one positive thing that has come out of your diagnosis? Not waiting, but always telling people how much they matter and encouraging them, however I can, because I realize no amount of time is guaranteed.

What encouragement or advice would you give someone who has just been diagnosed with your condition? Deep breath. I thought my world was over too, and yes, there will be difficult days or even seasons. Not today or tomorrow, but some day you’ll see we’re the lucky ones that got a diagnosis to readjust and be more intentional. We’re still here, which means we were meant to live. Not just exist, but live and thrive — our diagnoses are only a part of who we are. James 1:2-4.

What does your day-to-day life look like? I moved at the start of the year, so pretty quiet while settling in between working long hours, spoiling my dog, and slowly picking running back up.

What are your favorite hobbies and activities? Cooking, learning as much as possible (book club, podcasts, etc.), combating social injustice, cultivating community, and exploring the world, even went on my first solo trip last year!

How has the SADS Foundation been helpful to you? I rely on SADS Foundation as a great, trustworthy source of information. Last Fall was my first conference, and I wish I’d gone sooner! I can’t begin to explain how good for your soul it is to meet other people that just get it.

Seeing the doctor is always stressful. It’s even more so when you’re from out of state (like me) or even out of country. It can be very overwhelming. I admin a group and we get a lot of questions from people asking what it’s like, where to stay, where to eat, what you can do in Rochester, etc. so I decided to make my own mini guide to Mayo. I’ve broken things up into categories for some semblance of organization but I highly recommend reading all of it.

Atmosphere

Full disclosure: I love the Mayo Clinic. It is actually a delight going there. They have truly mastered Patient centered care and it shows. The details (like actual art and sculptures, not just “hospital art” ) really help to create a calm and dare I say fun environment. Most hospitals are full of a stressful agitated energy that Mayo just doesn’t have. Sure there’s hustle and bustle and occasionally small chaos but it’s a calm chaos. As my mom says “It’s a place of healing, not just a hospital.” There truly is no hospital I’ve ever been to that is like it.

Places to stay

First thing you should know Mayo has subway tunnels under the streets. Some hotels are connected by subway tunnels to the clinic which is really convenient, unfortunately, those tend to be more expensive as well. Many hotels also offer shuttles to and from the clinic back to the hotel which is also very convenient. I stayed at the Best Western a couple years ago and it was nice and had a shuttle. If you have your own car I highly recommend staying at an Airbnb. That’s what we did this last time I went and it was great. Also I highly recommend buying a parking pass. They are way cheaper than not buying one and they never expire as long as you have the pass so you can use it year after year until you run out of days.

Places to eat

• Nupa – Mediterranean and Greek food like gyros, dolmades, greek salad, etc. I just ate here for the first time last week while I was there and it was wonderful! My gyro was overflowing, the service was great and they didn’t charge me for extra tzatziki sauce. All around win-win for me!
• Victoria’s – I can’t say enough good things about Victoria’s. I’m Italian so I don’t eat out Italian food – except here because it’s that good. I have had the spaghetti bolognese and the chicken rosa verde which I highly recommend! And their calamari is so good!
• Newt’s – Best burgers in Rochester! Also have wonderful nachos. (They layer the toppings so you never get any sad empty chips). It is a bar so maybe not perfect for small children but also not bad for kids. All around good bar food and they have Minnesota beers that you can try if that’s your thing.
• Chester’s – Amazing food and possibly the best service I have ever had (Seriously ask for Devin she’s the best). I have a bell pepper allergy and she was very helpful and understanding and knew the ingredients of everything on the menu. I got a quinoa healthy bowl this time but they also have amazing steak.
• Pannakoeken –  Breakfast with a Dutch flair! They serve all day but we went there for breakfast. I am super picky about my eggs and they got them right so A+ for eggs. If you go you have to get a pannakoeken (also known as a dutch baby) – a stuffed, oven-baked pancake. We got one with strawberries that came with brown sugar and sour cream to mix and make a fruit dip. It was honestly life-changing. 12/10 recommend getting a pannakoeken. Also their muffins looked wonderful as well but we were too full to get any.
• Caribou Coffee – Amazing coffee and really nice staff. It is a chain but it’s not nationwide. There is also a Starbucks and Dunkin Donuts nearby if those are your thing. Also highly recommend either bringing a reusable cup or getting a fun one from the Mayo gift shop because they’ll charge you less to do a refill and because it’s good to be environmentally friendly.

Things to do (Rochester)

Rochester is pretty small but there are a surprising amount of things to do. Some of these are in Mayo so you can do them in between appointments if you have time/ need something to do

• There’s a little like “town square” out the back of the Gonda building. I believe it’s called Peace Plaza but I am not positive. Anyway, there are a bunch of things that happen out there like concerts, dance lessons, etc. There are little signs out there with a website you can go to to see all the events.
• Visit the hospital gift shop. I know it sounds kinda lame but they have some fun stuff like the rubber duck soap. It’s a bar of soap around a rubber duck and they are hilarious and really great for kids.
• Go look at the artwork! Mayo is part clinic, part art museum. There is art EVERYWHERE. They have big sculptures by Dale Chihuly that I could stare at for days. Seriously it’s everywhere so take a couple minutes to enjoy the art as you walk by.
• Nature! If it’s nice out you can check the many trails, lakes and other nature-y things. I’m not going to list them all but there’s a ton. Silver Lake, Douglas State Trail, Quarry Hill Park/ Nature Center, Chester Woods, Foster Arend Park. etc…
• Heritage House – Victorian-era house  (only open in Summer June-August) with tours and antiques
• Plummer House – Built in 1924, English Tudor mansion with 11 acres of landscaped grounds
• Minnesota Children’s Museum

Things to do (Minneapolis)

• Minnehaha Falls/Park – Beautiful falls and park right off the Mississippi River. There is also a little restaurant called the Sea Salt Eatery with local beers, fish, shrimp, that is amazing. They also have a little ice cream shop in the back. I high;y recommend the Nicollet Drive Pothole (no that’s not a joke it’s actually the name of an ice cream)
• Lock and Dam #1 of the Mississippi River – Beautiful views of the river and a self-guided tour of the lock and dam where you can get really close and see how it works. Very cool! My mom and I spent like an hour here.
• Mall of America – We didn’t go here because my mom doesn’t like crowds but it is a fun touristy thing that everyone will ask you if you went. There are so many things to do here! There’s an aquarium, water park, flight simulator and more just to name a few.
• Bakken Museum – A museum of electricity featuring Frankenstein! It was also originally sponsored by Medtronic. They sadly are not open on Mondays so we didn’t get to go but I really wanted to.
• Walker Art Center
• Minneapolis Sculpture Garden featuring the classic “Spoonbridge and Cherry” sculpture
• There’s also a bunch of other parks, lakes and other nature-y things to do here as well.

Miscellaneous Things

• If you get blood drawn in Peds you get a rubber duck. Don’t let them skimp out on the duck. I’m still a bit salty that I was denied a duck because I’m an “adult” now and they don’t have them down in the adult section. Also, ask for stickers if you want one. I got a Pua (the pig from Moana) sticker after my echo and wore it proudly.
• Navigating Mayo is very confusing but the people are very nice and are more than happy to help with directions or anything else you need. One day we forgot our paperwork and the people at the information desk printed it right out for us.
• If you are in a hurry, you can pull into the drop off at the Gonda Building and the parking guys will take Holter Monitors and things you need to drop off. It was very nice of them to do this for me when I was there last week.

These are just a few things I have learned over the years going to the Mayo Clinic. Hopefully, this information will be helpful to you and can put your mind at ease (even if it’s only about where to get good food for dinner). Good luck and enjoy Rochester!

• DFT- Defibrillation threshold testing
• VT- Ventricular tachycardia
• VF- Ventricular fibrillation
• AF- Atrial fibrillation
• EKG/ECG- Electrocardiogram
• PVC- Premature Ventricular Contraction
• PAC- Premature Atrial Contraction
• ICD- Implantable Cardioverter Defibrillator
• CRT- Cardiac resynchronization therapy
• LVAD- Left ventricular assist device
• EP- Electrophysiology
• CPR– cardiopulmonary resuscitation
• DCM- dilated cardiomyopathy
• HCM- hypertrophic cardiomyopathy
• LBBB- left bundle branch block
• MI- myocardial infarction
• QTc- corrected QT interval
• RBBB- Right bundle branch block
• SVT- supraventricular tachycardia
• PLSVC- Persistent Left superior vena cava
• WPW- Wolff–Parkinson–White syndrome
• LQTS- Long QT syndrome
• CPVT- Catecholaminergic polymorphic ventricular tachycardia
• BrS- Brugada Sydome
• SQTS- Short QT sydrome
• ARVD/C-Arrhythmogenic right ventricular dysplasia/cardiomyopathy
• VUS- Variant of unknown significance
• CHF- Cardiac Heart Failure
• LCSD- Left Cardiac Sympathetic Denervation
• SCA- Sudden Cardiac Arrest
• SCD- Sudden Cardiac Death
• SICD- Subcutaneous Internal Cardiac Defibrillator
• ATP- Antitachycardia Pacing
• BB- Beta Blocker
• CHD- Congenital Heart Disease
• EF- Ejection Fraction
• IST- Inappropriate sinus tachycardia
• NSVT- non sustained Ventricular Tachycardia
• PAF- Paroxysmal Atrial Fibrillation
• POTS- Postural Orthostatic Tachycardia Syndrome
• PSVT- Paroxysmal supraventricular tachycardia
• ST- Sinus Tachycardia
• SVT- Sustained Ventricular Tachycardia
• BPM- beats per minute
• ASD-  atrial septal defect
• AV- aortic valve
• EPS- electrophysiological study
• HOCM- hypertrophic obstructive cardiomyopathy
• HR- heart rate
• SIDS- sudden infant death syndrome
• TdP- torsade de pointes
• VSD: Ventricular septal defect
• AED – Automated External Defibrillator
• BP-Blood pressure
• DVT- Deep vein thrombosis
• SSS- sick sinus syndrome
• EMI- Electromagnetic interference

1. Why am I consider at this risk level at the current time?
2. Will my risk level change overtime? Or will the risk level remain the same all the time?
3. What are the treatment options?
4. Why am I being started on this particular dosage of beta blocker?
5. Why is this beta blocker the best one for me compare to the other ones?
6. If I have a question after my appointment, what is the best way to contact you?
7. Will I need to have genetic testing? How long does it take to get back results for genetic testing?
8. What will be done for my kids and other family members?
9. Is there any specific medications I should avoid with this diagonals?
10. Are there any specific foods or drinks I should avoid with this diagnosis?
11. How often will I need to see you and why?
12. What kinds of tests will be done to determine my diagnosis?
13. After I get a diagnosis, what kinds of tests will continue to be done to ensure I am protected by current dosage of medication and how often will it need to be done?
14. What does the genetic test results mean?
15. Does hormones play a role in the risk factor?
16. When going through puberty, will I have an increase risk of events?
17. When going through menopause, will I have an increase risk of events?
18. Can I continue to participate in sports?
19. Are the medications safe in pregnancy?
20. Do I need any precautions if I am thinking of pregnancy?
21. How will I coordinate care if I am thinking of pregnancy?
22. Can I still take the medications if I want to breast feed?
23. How would the medications I am taking affect the baby during pregnancy?
24. Is there a correlation that during your menstrual cycle you may have more arrhythmia?
25. Based on the condition I have, will I be at a higher risk of events during postpartum?
26. Is it ok to take vitamins and other supplements with the current medications I am taking?
27. Do I have to keep my heart rate below a certain rate while exercising?
28. Are there any activities I should avoid with this diagnosis?
29. What restrictions will I have with this diagnosis and why?
30. Are there precautions to take if I may need other surgeries?
31. What side effects is possible from the medications I am taking?
32. Will I have full access to my data so I can meaningful engage in my own health care?
33. Do you engage a resident therapist/psychiatrist who can help me with coping issues, should they arise?
34. Are there any support groups I could join either in person or online to talk to others?