In June 2024, the SADS Foundation is bringing the LQTS and CPVT patient communities together for an FDA Externally-Led Patient-Focused Drug Development Meeting (EL-PFDD). This meeting gives the FDA and other key stakeholders — including researchers, biopharma companies, healthcare providers, product developers and federal regulatory partners — an important opportunity to hear directly from patients, their families, caregivers, and patient advocates about the symptoms that matter most to them, the impact the disease has on patients’ daily lives, patients’ experiences with currently available treatments, and patient’s priorities for therapeutic outcomes. Learn more about the EL-PFDD here.

During the EL-PFDD, you’ll hear from patients and caregivers whose lives have been affected by LQTS and CPVT tell their stories. Here, you can meet the panelists who will be presenting their stories during these sessions.

We want to hear from YOU during the EL-PFDD about how LQTS and CPVT has affected you or a loved one’s life. Your inputs will become part of the Voice of the Patient report prepared after the meeting and will become a formal submission to the FDA as well as guidance for ongoing and future research. We want and need to hear from families with LQTS and CPVT. You can register to join the EL-PFDD here.

 

Long QT Syndrome

 

Mona

“In January of 2021, I went for a routine mammogram, and they found something. Long story short – I was diagnosed with Malignant Invasive ductal carcinoma – HER 2 positive breast cancer. Well, this was going to be a challenge.

What medications would we use that are safe for LQT? What about chemotherapy? What about nausea and side effects? What about losing electrolytes? This is why I am sharing my story. I thought I am sure I am not the only LQT survivor that this will happen to. I wanted to share my experience and what I’ve learned. Anything to help or encourage another who may face this or something similar.”

Read Mona’s story here.

 

Keona

“I don’t want to spread a message of fear – you can definitely live a full life with LQTS. It’s important to know CPR and where AEDs are in public. Being aware and knowing what you can do can make all the difference. You can live a full life, but be prepared to respond in case of emergency.

I don’t want another parent to experience the same pain of losing their child. I wanted to take my pain and channel it into something positive to help others in honor of my children, and also to be an example of my surviving daughter on how to handle adversity in life.”

Read Keona’s story here.

 

Suzy

“I was lucky – I was diagnosed at birth. The doctors knew something was off with my heart rhythm when I was in utero, but the technology back then wasn’t advanced enough to know more than that. I was in distress when I was born, and I was born with heart block along with my LQTS Type 2. I was really fortunate to have pediatric cardiologists on the other side of Ann Arbor who knew about LQTS. I was zipped across town a few hours after I was born, and given my first temporary pacemaker. A couple days later, I was given my permanent pacemaker and started on a beta blocker. I’ve had the same course of treatment my whole life, and had an ICD/Pacemaker implanted in my early 20’s.

Things have come full circle with my daughter, Gabby, who had a similar presentation when she was born – she had heart block, and her first device put in right when she was born. But we knew a lot more this time around.”

Read Suzy’s story here.

Tom

“Thirty-nine. That’s how old I am. It’s also the age when my father died.

Losing my dad when I was just 11 years old has had a profound impact on me. Not only was I forced to navigate growing up without him, but I was also diagnosed with the same medical condition that took his life.

I have become my own person, yet at the same time, I will always be influenced by his legacy. Looking back on his life, I wonder about his thoughts, motivations, and goals. He was a firefighter, an EMT, a beloved friend and brother to his 11 siblings. As his second-born child, I often wonder what he saw for me. And now, as I outlive him, I can’t help but reflect on my own life.”

Read Tom’s story here.

Mark

About twenty years ago my older sister had an episode that almost took her life. Through this, she discovered she had a genetic disorder they called Long QT. At the time it was very foreign to doctors as well as us. Nobody had ever heard of this. Matter of fact, the doctors did not even know what to do. As she was treated they ended up putting a pacemaker in her. Since then she has done well and not had any problems.

She told her siblings to go and get checked. I decided to go and get checked about five years ago. The doctor did an EKG and confirmed that I had Long QT. There was no concern or medication given at this time. In the fall of 2000, I felt strongly that I needed to be checked again through a cardiologist. If was confirmed and further testing was required due to the episodes I had experienced earlier in my life.

Read Mark’s story here.

CPVT

 

Suzanne

Suzanne’s son, Cian, had a fainting episode at home and his pediatrician sent him to a cardiologist. Initially, Cian was diagnosed with vasovagal syndrome (fainting), but a year later, after a Holter monitor was administered at his one-year follow up, was send for a stress test, which showed that he most likely had CPVT.

“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,” says Cian. “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.”

Watch Suzanne’s story here and read Cian’s story here.

Pam

The year 1987 brought an unexpected tragedy to the Osterhout family when their son Matt, age 17, died suddenly. As part of his regular routine, Matt had jogged from his home to work. However, minutes later he was gone. Matt’s autopsy did not reveal an explanation, but his death began a journey of discovery for remaining family members.

At approximately the same time in Salt Lake City, Dr. G. Michael Vincent was beginning to study cases of sudden cardiac arrest and in the early 1990’s, discovering the first Long QT mutation and founding the SADS Foundation. However, another decade went by before the Osterhout family would connect with the SADS Foundation. In 2001, the unbelievable happened again. Britni Osterhout Cooper (Matt’s sister) died suddenly leaving a husband and two young daughters, Quincy and Kennedy behind. The autopsy offered no clues to the cause of death.

Read Pam’s full story here.

 

Aimmy

“When I was 11 years old, I passed out in school. I was taken to the emergency room and many tests were done. The doctors were suspecting that it was my brain but after many tests everything was normal. I went back to my normal activities. When I was 13 years old, I had a seizure when I was running in gym class, and I went to the emergency room again. The doctors said since I already went through the testing for my brain and it was normal, it was probably my heart. After going through EKG, echo, 24-hour machine and a stress test, I was diagnosis with long qt syndrome. It was a very scary feeling because I did not know what was going on and so many doctors were surrounding me. I was told I needed to have an ICD put in right away and needed to be put on medications. I was then hospitalized while waiting for my surgery. I had to translate for my parents as to what was going on with me because they did not speak much English.”

Read Aimmy’s full story here.

Rachelle

“On May 5th we had another appointment so that we could have the “official” diagnosis, even though we pretty much already knew. He laid down a lot of rules, a lot of limitations. I’m going to be honest, I don’t remember much about that appointment because I spent most of it playing solitaire trying to keep it together. He said I would never row again. He said completely seriously, and I quote, “what’s the difference between playing the piano?” (you mean besides literally everything?). After that, I just zoned out. My brain couldn’t process any more information at that time. I’m sure he probably thought I was very rude, and I’m not denying that I was, but he could’ve been a little more sensitive. I was 15 and he just turned my entire world upside down. I needed to gather some footing before I tried walking.

When I got back to the car, I just sobbed. In the haze of this diagnosis, we had forgotten to have the nurse validate our parking. The guy in the parking booth looked at me, still sobbing uncontrollably in the passenger seat, and told us not to worry, he would take care of it. My mom tried to cheer me up by taking me to our favorite barbecue place, but some things are more than a rack of ribs can handle.”

Read Rachelle’s full story here.

Tom

“Stay positive – every day we’re learning more and more about these conditions, and many people who have them live normal lives. That’s the most positive thing to get from this.

Even with restrictions, there are so many things you can do. As soon as I was diagnosed, my parents got me into golf, and over the past 32 years I’ve been playing and gotten pretty decent. I’m looking forward to sharing it with my daughter Meg.

Even though I’ve been shocked multiple times, it hasn’t slowed me down.”

Read Tom’s story here.