In 2003 I was a very physically fit female Firefighter/Paramedic who was running full Marathons. I was 35 years old, a 14-year veteran of the Fire Service with not one event that would indicate I had any cardiac issue at all. Then, after a routine physical conducted by the Department Physician, I received a disturbing phone call. The Doctor said, “If you were anyone else, I would send you to the ER”. I was very confused and not clear as to what the concern was. He explained that my QT interval was prolonged, that I could suffer a cardiac event and I was to see a cardiologist as soon as I could. I went to the cardiologist, was put through a stress test on the treadmill, 12 lead EKG, and I was cleared with an “Athletic heart”.

Then in 2006, my aunt was taken to ER after collapsing in her kitchen. She was told that she had hypothyroidism and needed an ICD due to a prolonged QT interval. I was surprised and shared my information, but I felt it was truly just a curious fact. Later, in the fall of that same year, my mother began having episodes of “passing out” and my dad would find her “asleep” on the floor or in her chair at the computer. One day she called 911 to just have her vitals checked and as the Paramedics were checking her she went into a deadly heart rhythm and full code arrest. They quickly defibrillated her and took her to the ER. She was observed in the ER having multiple runs of ventricular tachycardia. The next morning, she was going through an angiogram procedure and went into full code arrest 2 times, having to be resuscitated. An ICD was placed and when she woke up, she was informed she had a condition called Long QT syndrome. This was getting spooky and way too close to home. I was still not convinced that I was truly in danger.

Shortly after, I was informed that a cousin of mine had just died at the age of 33. She had gone for a run, came home, took a nap, and was found dead by her mom. That was it. I was done messing around. After seeing my cardiologist, I was genetically tested, and it was confirmed that I had Congenital Long QT Syndrome Type 2 and Type 5. I quickly scheduled my ICD placement surgery. I was informed I would no longer be able to be a Firefighter as a result. This was devastating but I had to do it. I felt it was the only real, safe choice. I had a full and exciting 18 ½ year career as a FF/PM with some of the most amazing people in the world. I was lucky.

In 2007 I became a Certified Flight Paramedic and flew for nearly 9 years while I put myself through nursing school. I became an RN in March 2016.

Through the years I have educated myself as much as I can about my condition. I have been on a solid treatment plan of Propranolol ER 80mg daily, Potassium 99mg daily, Magnesium 250mg daily, with every 6 months a checkup with the cardiologist and device interrogation. I have the Credible Meds app on my phone and always cross-reference every medication I take to even treat a simple cold.  I have had a few bumps through the years, but I have done relatively well.

Then 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.

My first advice is to always speak up for yourself, be your own advocate. Never assume. We had a saying in the fire department “trust but verify”. The first step for me was the placement of a port. The team was wonderful and allowed me to check every medication and we spoke openly about the procedure. It went perfectly. I only used Tylenol for the surgical pain when I got home.

After port placement, I was scheduled for chemotherapy. One of the biggest challenges was finding an antiemetic to treat the strong nausea that comes with chemotherapy. My doctor spent considerable time on this and found a medication that worked beautifully. Aprepitant 125mg on day 1 of chemo and 80mg on days 4 and 5 at the same time each day.  Another challenge was to find a safe anti-diarrheal. Lomotil 2.5 mg tab up to 4 times a day as needed worked perfectly and usually 1 to 2 doses worked for 24 – 36 hours. Steroids are used prior to chemotherapy and for days after. Dexamethasone worked well at 4mg every 12 hours on days 2 and 3. The chemotherapy itself posed no danger to LQT. Any pain I had in my head, joints, or muscles was controlled with Tylenol. I have completed the 6 prescribed rounds of Chemo and I have seen my cardiologist, and all is well at this time.

I am now waiting to hear about surgery. I will continue to ask questions, advocate, and educate myself regarding the medications and procedure to keep myself safe. I am doing double flat mastectomy and the challenge is the repositioning and safe manipulation of the ICD. My surgeon is confident and has performed this plenty of times and I trust her. I am fully aware it will look very different than it does now. That’s ok. I can LIVE with that.

I truly do feel so very lucky to have been diagnosed early enough twice with conditions that are treatable and manageable ONLY if caught in time. I am a witness to the benefits of regular checkups and routine exams and how they can save your life.  I hope this information and shared experience can help at least one person. We are survivors and hopefully there will be many more in the future because of us, and the amazing researchers and doctors fighting the fight!

What SADS condition do you have, and when were you diagnosed?

I was diagnosed when I was 15 years old with LQTS Type 1.

When did you get your ICD?

In 2011 – so I was 30 years old when I got my ICD.

What factors went into the decision to get an ICD?

I had been having some fainting episodes, even while I was on high dose beta blockers, and we put in a loop recorder, and that loop recorder caught some Torsades. I got an ICD right after that, because I was maxed out on the amount of beta blockers that I could take.

How many ICDs have you had?

This is my fourth ICD, because I’ve had a lot of complications from it.

I had my first ICD for about four years, and then I bent over and I picked up a heavy bucket of rocks. And when I did that I pulled my leads out, so they were not positioned in the correct spot anymore. And that caused some pacemaker syndrome. So every time I would bend over again, those wires would get close to touching, and it would pace my heart inappropriately. It took a while to figure out what was going on, but then I had to have a lead extraction, and I had to have a new ICD put in. I then needed a pocket revision after that for some problems with positioning and then a couple years later, I had what’s called SVC Syndrome (Superior Vena Cava Syndrome). From where the leads were, it caused a lot of narrowing from scar tissue. And I ended up getting blood clots in my SVC, and I had to be in the ICU for a couple of days. After they got rid of the blood clots, I had to go in for another lead extraction so that they could put a stent in.

A couple years after that, I ended up having return of symptoms from the SVC syndrome. And they took a look and I had another narrowing up above the stent. So they were trying to decide what to do, because every time I would have the leads in my SVC, it would cause more of a narrowing. They decided that they would take everything out, take my ICD out, do another lead extraction. And then I ended up getting another stent and a pacemaker. And an S-ICD this time instead.

What’s your experience with an S-ICD?

I actually hate it, because it’s so big, and it caused a lot of pain on my side, and I couldn’t move my left arm for very well for almost a year. He actually had to go in and reposition that S-ICD.

Have you ever been shocked by your ICD?

Yes – inappropriately. It was from something that is very, very uncommon. My ECG just all of a sudden looked different. I had a change in the waveforms. I have a separate pacemaker, and they don’t talk to each other. So when I had that rhythm change, it fooled my ICD. I was walking on the treadmill, and I got shocked while I was awake.

It was very painful and knocked me down from the treadmill. I saw a flash of bright white light. It took me a few minutes to be able to get up.

What was your experience recovering from your ICD surgeries?

The first one I had was just placed under the skin and was not very painful to recover from. The second one, I had a subpectoral placement and that was harder. It was painful for a few weeks.

Very few people have the same system that I have – I’ve only found three people. So my recovery from my S-ICD surgery was probably a lot different than most people’s recovery would be.

What is your overall view of your ICD?

I know that I need my ICD because I’ve had documented Torsades, even being on beta blockers. So even though I don’t like some aspects of the ICD, like the pain that it’s caused, or the inappropriate shock, I’m still glad that I have it. It allows me to be with my family. And for us not to worry. It also allows me to take the medications I need to treat my Lupus and be safe.

How did you get involved with the SADS Foundation, and how has it been helpful?

Right after I got diagnosed, I was a teenager, and I had to quit everything, all my sports, because not as much was known about LQTS then. And that was such a hard time, I was so upset about it. I was kind of mad at the whole world for a little bit. But then I decided – I can either let this negatively influence my life and I can be mad, or I can teach other people about it so that they could not be so afraid. And so I did. I had one of the paramedics that actually took me to the hospital one of the times from passing out help me. And we put on a big informational session. After that I felt so much better, and the people I was around – my family, my friends – felt a lot better because they knew what they should do if something happened.

Right after that, I found SADS through Dr. Etheridge, because she was my doctor at that time. And I’ve been volunteering ever since then. I volunteered with my family, and now with my kids. SADS makes a huge difference in people’s lives.

When I was 22, I started training for my first triathlon. A few years later, I had completed over 20 short triathlons and was a few months away from the big day when I would marry my husband, Ockie. I had even competed for Team USA in amateur world triathlon championships.

But then things changed. It was a normal evening at the YMCA, and I had somehow convinced my sister to come swim laps with me (she hates swimming). Two laps into our swim, she passed out in the pool. As the lifeguard and I pulled her out of the pool, she regained consciousness and gasped for air with no recollection of what happened. Others that witnessed what happened thought she may have had a seizure. Many appointments later, a local cardiologist suspected that she may have CPVT and referred her for genetic testing. 

A month or so later, four of the six members of my immediate family had been diagnosed with CPVT – my dad, two sisters, and myself. I have another sister, a fraternal twin, who does not have it. We were all so physically active growing up and could not understand how this condition had only manifested now. 

On top of this, my CPVT diagnosis was especially challenging for me. I also struggle with advanced stage 4 endometriosis and have had three surgeries since the age of 19 to alleviate the painful lesions and associated symptoms. I initially began exercising so regularly as part of my treatment plan, which helped my symptoms. After my CPVT diagnosis, I felt as though I would never feel like my happy, healthy self again. 

But then our local cardiologist referred us to Dr. Michael Ackerman at the Mayo Clinic in Rochester, MN. He and his team have given us all so much hope and the confidence to continue doing what we love despite what seems like a diagnosis of limitations. 

With encouragement and support from my sweet husband, I was able to continue racing in a few triathlons with him as my designated swimmer (since swimming is known to trigger CPVT events). We’ve also become avid golfers and enjoy low key days on the course as a new form of exercise. Our family has become closer since all of our diagnoses, and we rely on our faith to carry us through the difficult times.

Today, I take nadolol once daily and flecainide twice daily. I also underwent LCSD (left cardiac sympathetic denervation) at the incredible Mayo Clinic Rochester and visit there annually. I am still able to run or bike almost every day, but carefully monitor my heart rate. I now satisfy my competitive nature by submitting homebrew beers to competitions and by attempting (and usually failing) to beat my husband at golf. CPVT might alter your path, but it can never change who you are. I want to encourage other SADS patients to find their outlet, be themselves, and do what you love. Make friends with your condition instead of seeing it as the enemy within you.

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Name: Alexis Holmgren
Age: 18
Which SADS condition do you have? Long QT Syndrome Type 5
When were you diagnosed? In 2013 at age 12
How are you treated? Beta blocker (Nadolol), Spironolactone, Left Cardiac Sympathetic Denervation (LCSD), and a dual chamber ICD with pacing for bradycardia

How/when were you diagnosed?
I was diagnosed following my mom’s survival of three cardiac arrests and her subsequent diagnosis of LQTS. I underwent a full cardiac screening and my results (especially my stress test where my QTc lengthened significantly in recovery) were indicative of LQTS. Genetic testing came back confirming the diagnosis. Despite this, I had been symptomatic since around the age of 10, having experienced three near-drowning events (one while diving in the ocean, one in the pool after going off the diving board, and one in cold water after attempting the Polar Bear Dip) and numerous fainting events after basketball practice that are now believed to have been caused by LQTS.

What has been the biggest challenge you’ve faced in living with your diagnosis?
One of the biggest challenges I’ve faced living with my diagnosis is the limitations and challenges LQTS has caused in trying to treat my other medical conditions. For instance, I also live with Solar Urticaria, a rare severe and debilitating allergy to ultraviolet light including sunlight, and most treatments that would traditionally be used to treat the condition are on CredibleMeds, posing a high risk of causing arrhythmias due to my LQTS. It is constantly a balancing act of risk versus benefit. The other biggest challenge I have faced thus far living with my diagnosis is the rare complication I ended up with of severe, disabling, chronic nerve pain from my LCSD.

What is one positive thing that has come out of your diagnosis?
One positive thing that has come out of my diagnosis is that living with LQTS and facing people constantly telling me I shouldn’t be allowed to do things I was cleared by my doctor to do because of my heart condition inspired me to become both a patient advocate and an outspoken advocate for diversity and inclusion. As a patient advocate, I admin 3 groups for SADS patients (one for people living specifically with LQTS Type 5 , one for teens living with LQTS and one for people who have had or are going to have LCSD.  As an advocate for diversity and inclusion; I have written numerous articles, been a keynote speaker on inclusivity, lead training sessions for leaders on Diversity and Differences, and am a member of the National Diversity and Inclusion Action Group with Girl Guides. I was also selected to bring my advocacy efforts to the national level and discuss the issue of diversity and inclusion at the Canada Youth Summit in Canada’s capital city, Ottawa in May 2019 and at the Experiences Canada Diversity and Inclusion Forum in Toronto in July 2019.

What encouragement or advice would you give someone who has just been diagnosed with your condition?
I would tell someone just diagnosed to educate yourself as much as you can on your condition and to learn to advocate for yourself. You will need to become your own best advocate in medical and non-medical situations as you will come across people who are not educated on your condition and those who spread misinformation. Information (from credible sources) is power!

What are your favorite hobbies and activities?
My favorite hobbies and activities are; Girl Guides, volunteering at my local humane society as a Cat Cuddler and helping to certify therapy dogs, writing, reading, photography, knitting, scrapbooking, journaling, traveling, listening to music (and going to concerts), watching curling, watching Netflix, and my advocacy work as a patient advocate and an advocate for diversity and inclusion.

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Annie was born in May 2005 eight weeks early, and with kidney problems and unilateral talipes (club foot).   Before her first birthday, Annie had two corrective surgeries and a successful reposition of her foot.  This however, left her with leg length difference and pain in both her hips and knees.  Her kidneys continue to work well together and are able to provide good function.

When Annie was seven, she was diagnosed with Type 1 Diabetes and was treated by an insulin pump and a Continuous Glucose Monitoring device.  A week after this diagnosis, Annie’s Father died suddenly at work, aged 42.  A postmortem recorded the death as being ‘undetermined’.  Following this news, Annie almost immediately started experiencing palpitations and a feeling of being lightheaded.  It was originally thought that this was down to the bereavement however, doctors decided to carry out an electrocardiogram (ECG) where it highlighted that she had a prolonged QT.  After further tests and monitoring over the summer, Annie was genetically tested and was positively diagnosed as having Type 2 Long QT Syndrome.

Due to the fear that this could be hereditary, Annie’s two older brothers were also tested however, they were found to be clear of the condition.

Annie’s treatment commenced with beta blocker therapy (nadolol), twice yearly heart monitors and once a year stress test.  Regardless of this diagnosis, Annie continued about her daily life with only restrictions on competitive exercise or excessive activities such as going on roller coasters, as well as avoiding where possible, any sudden noises. In May 2018 however, six years after her diagnosis, all this changed when Annie was found unresponsive on her bedroom floor.  This happened three days before her thirteenth birthday.  Annie was blue lighted to hospital and presented with low blood sugar levels which was thought to be down to her Diabetes however, an ECG the following day showed in fact that Annie’s QT interval was 670.  Electrolyte therapy commenced in hospital but after a week was still was very prolonged.  The hospital panel decided that the best course of action would be to fit Annie was an S-ICD. 

Although it was a difficult time for Annie and her family, she recovered well from the surgery and returned to her normal life … school, shopping, socializing.  She also started weekly badminton classes as she was keen to build up her fitness levels again.  Unfortunately, the attack did leave Annie struggling with depression and anxiety and this is something she is receiving ongoing professional support with.

Annie’s family have played a huge role in supporting her through all this and they have a family holiday to Mexico planned for the Summer 2019 where she will be encouraged to show off all her scars and they will help her celebrate her future.

From the day Annie was born she has overcome so many challenges but no matter what life throws at her, she remains a kind, caring beautiful girl who is permanently smiling through it all.

Her family has a mantra: Knowledge is Power … Unfortunately, many are not so lucky.

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Please see our Guidelines For Writers and contact us as SADSblog@sads.org. 

During the next several years we occasionally had our daughter tested and it was inconclusive until she was 5.  She did have it.  At that same time our middle son was genetically tested to identify the gene, as well as our daughter.  She was immediately put on medication.  She had never showed any symptoms and we are thankful to say that she is now 22 years old and still has not shown any symptoms. 

When my middle son turned 19, a college student, he was watching TV with a friend at about 7 in the morning – finals week.  He collapsed.  Thankfully someone was with him.  The responding officer did CPR until the paramedics came and intubated him.  Five days later, they removed his breathing tube and flew him to Phoenix where he received his first combo pacemaker/defibrillator.   We came to find out he was not taking his meds as he should have been.  We also were told he had a less than 1% chance of surviving the ordeal.  He had no problems with his recovery with the exception of having to change all his life’s ambitions as a firefighter, Marine, police officer, etc.  Obviously he could not do everything with this new device, aside from the fact that he should not be anyway.  Again, being the stubborn boy that he was, he went on and became an EMT and then paramedic based, out of all places, Las Vegas.  I am thankful to say that today he is getting ready to turn 30 and is a critical care air-medic.  He is married with 3 children, one he adopted, and two that are biologically his.  With the information we have from his genetic testing we were able to immediately have the children tested.  One has LQTS and one does not.  Also recently, our other son, who is married and about to have children, was genetically tested and he does not carry the gene.  But this is not all to our family’s story.

In 2017, my husband was diagnosed with large B-cell Lymphoma.  His treatments were intense.  He had a stem cell transplant in June of that year.  When one receives this transplant, they bring your body to a near death condition and if you do not have the stem cells to implant, you would die.  He did great.  They implanted the cells. However, during that first week of recovery, his heart stopped.  His magnesium, potassium and other important levels were bottomed out.  He was also given an anti-fungal that is known to cause abnormal heart rhythms.  The doctors knew about his LQTS and further knew that he never had any problems with it.  For a week he was flat on his back until his heart stabilized.  He had many episodes of torsades.  We had to wait until his blood work was stabilized before he could receive a defibrillator.  He did and he is back to work, in remission, and doing fine today.

Although the stories of my children are pretty common for many LQTS patients, I feel my husband’s story may be helpful to someone out there with LQTS, facing cancer or any other disease and the treatments that follow.

Would you like to share your family’s experience with a SADS condition?   
Please see our Guidelines For Writers and contact us at SADSblog@sads.org.