Alexis Holmgren, LQTS Type 5
We are now Thryv.
LQT Therapeutics Inc. has changed its name to Thryv Therapeutics Inc.
Alexis Holmgren is a 20-year old from Central Alberta, Canada, and she lives daily with Long QT Syndrome (LQTS) Type 5. While Alexis has LQTS, it is certain from following her posts on Instagram (@ggalexis12 & @therarewanderer) that LQTS does not define her.
Recently, Alexis sat down with LQT Therapeutics to share a bit of her LQTS story.
What was your road to being diagnosed with LQTS?
Growing up, I was symptomatic of having LQTS, with a history of multiple fainting spells after basketball practice at the age of 10, and three near-drowning events between the ages of 10 and 11.
After having to be pulled from the bottom of the swimming pool as a result of a fainting event after being pushed off the high diving board, the lifeguard at the time told me to be more careful and lectured me about not ‘messing around’ in the deep end of the pool. Despite this, I have been an advanced swimmer from an early age.
In another event, I fainted after doing the polar bear dip (diving into icy cold Canadian waters) and woke on the bottom of the lake. In my third near-drowning event, we were on a family vacation in Hawaii and my mom and I were SNUBA diving (similar to SCUBA diving but with a hose attached for air rather than an air tank), and I passed out underwater. When I woke up, my air tube was floating away from me and I was still held under more than 10 feet of water by a weight belt I was unable to remove myself.
I had never been more afraid that I was going to die. Luckily, the instructor noticed my air tube was floating away without me and dove down from the raft to check on me and eventually pulled me out of the ocean and up to the raft. I’ve not been diving again since.
However, despite having multiple events, at the time these were not recognized as warning signs, so a possible chance for diagnosis was missed and I never received any medical tests. Then, in July 2012, my mom had a simple kidney stone surgery that led to three sudden cardiac arrests that caused her to suffer a moderate anoxic brain injury. During her resulting treatment, she was diagnosed with congenital Long QT Syndrome Type 5 after receiving a positive genetic test.
It was at this point that I was able to be tested. Long before my genetic test results came back though, it was clear I had inherited Long QT Syndrome from my mom based upon both my previous symptomatic history and a prolonged QT interval identified on multiple EKGs; intervals that prolonged further during a stress test, especially during the recovery phase. I received a clinical diagnosis of LQTS three months before my genetic test returned a positive result. I was 12 years old at the time of my diagnosis.
After the diagnoses in both my mom and I, my aunt suffered a sudden cardiac arrest in March 2014 from LQTS. At that time, she had not yet had the opportunity to be genetically tested because she didn’t qualify under our provincial guidelines until my grandma first tested positive for LQTS. From this event, she suffered a major anoxic brain injury and was unable to care for herself. She started beta blockers (Nadolol) and had an ICD implanted, but died from another LQTS-related cardiac arrest two days before Christmas in 2017.
You were quite young when you were diagnosed with LQTS - how did you feel when you were diagnosed, and how did you work through the process?
It was extremely stressful at first. I had just witnessed my mom have three sudden cardiac arrests and saw her on life support where I was told to say my final goodbyes, an experience that caused me to develop post-traumatic stress disorder (PTSD); I still struggle with this. Then, all of a sudden, I was hit with the reality that I had a 50 percent chance of having the same condition that almost killed my mom.
Honestly, at first, it was worse to think my little brother who is three years younger than me could possibly have LQTS when he already struggled so much day-to-day with Autism Spectrum Disorder (ASD) and attention deficit hyperactivity disorder (ADHD). I remember saying I would take the condition so he wouldn’t have to deal with it. Of course, that is not how genetics work, but I still didn’t want him to have to deal with this on top of the other challenges he faces.
At the same time, I was terrified that having LQTS would mean the same thing would happen to me as what happened to my mom - that I would go into multiple cardiac arrests and face Implantable Cardioverter Defibrillator (ICD) complications like sepsis. It didn’t help that when she was still on life support, a nurse told me that, “Your mom died because of this (LQTS), and you’re going to die too if you have it.” That was the first description of Long QT I had, and I was, understandably, extremely scared. I thought a LQTS diagnosis meant certain death, or at the very least, certainly having a cardiac arrest.
It was also very overwhelming and confusing with the amount of information being given all at one time and so much of it being in medical jargon that I did not understand. I taught myself to read scientific journals to gain more information on my condition by looking up every word I didn’t understand and continuing on until things made sense. For me, information is power, and this was the most critical way to work through the diagnostic process and learn to live day-to-day with LQTS. Understanding what I was dealing with helped so much in living with LQTS, rather than just surviving.
There was also a lot of difficulty with having such a rare type of LQTS, as Type 5 makes up less than one percent of diagnosed cases, and there was next to no information available about it. Due to this, I had no idea what triggers could be. My pediatric EP (cardiac electrophysiologist) didn’t know how to treat me, as there were no guidelines or specific therapies for Type 5. I was the only Type 5 patient she’d ever had in her career. She actually told me a few times, “I wish you had Type 1 so I knew how to treat you.” The same can be said for my mom and her EP.
Once I was diagnosed, I faced losing numerous friends and acquaintances, even those I had known from a young age, as many people were scared of “the girl with the heart condition” and didn’t know how to deal with it. I stopped being invited for sleepovers and to birthday parties. I felt so alone at the time, but I am thankful for this as the friends I have now are incredibly caring people who are there to support me through anything. My LQTS diagnosis really showed me the type of people I want to keep in my life.
In addition, due to being diagnosed I was required by my pediatric EP to carry an AED (automated external defibrillator) everywhere I went. Many friends were additionally scared of the device and didn’t feel comfortable using it in the event of a sudden cardiac arrest. The school I was attending had no public AEDs available, and told my parents that if I went into a sudden cardiac arrest their only responsibility was to call emergency services - 911. They would not commit to performing CPR or using an AED, and due to the structure of the legal system in Alberta, we could not compel them to do so.
AEDs here are covered under labour laws and not required in schools. Response time at my school would easily be between 10-20 minutes, and that was way too long for us to be comfortable with, as we had seen the brain injury my mom had suffered from her cardiac arrests and also knew the chances of survival after that long were extremely low. Therefore, I started attending online school from home in Grade 8, and did so until I graduated high school at age 19.
Another major challenge I faced after my LQTS diagnosis, was that the extracurricular activities I had been actively participating in for years, no longer allowed me to participate because of my LQTS; even when we received official clearance from my EP. They told me I was a ‘liability,’ that I would always have to bring my mom with me (this one makes me laugh the most because she has LQTS too and is an SCA survivor), or that I shouldn’t be allowed to attend at all. I knew what was happening to me was wrong and wanted to change it, not only for me, but for those who would come after me. So, this was what caused me to become a passionate advocate for diversity and inclusion. I am still extremely active in those efforts to this day. Advocating for diversity and inclusion helped empower me with my LQTS diagnosis and was extremely helpful in learning to cope.
How are you and your medical team managing your LQTS condition?
At first, I was started on beta blockers (Nadolol). However, my dose kept needing to be increased due to inadequate protection as seen on my holter monitors. At one point, I was taking 180 mg a day and could barely function. In addition, I had six fainting events while on beta blockers, so my EP emergently fit a loop recorder to record my heartbeat only eight days before I was due to fly to attend a Girl Guide camp in the remote Canadian northern province of the Yukon.
I had numerous complications with my loop recorder including the wound opening back up and requiring wound care on my trip, feeling the entire surgery due to local anesthetic resistance, the device shifting from its original location, and severe pain from the recorder’s location. I begged my doctor to take it out at the time, but because of the severity of my LQTS situation needing close monitoring, she told me that wasn’t possible.
So, four months after the initial implant, in November 2015, I had a revision surgery where the original device was removed and a new device was placed in a new pocket in a new position. Again, my surgical incision opened up shortly after surgery, requiring wound care, and I felt the entire procedure, but the second implant did not cause chronic pain and the removal surgery resolved most of the original pain. Although I did not have a fainting event with my loop recorder inserted, I did have numerous short runs of arrhythmias recorded that I was not even aware of.
I also live with two additional rare diseases on top of my LQTS which certainly makes life challenging. I have Solar Urticaria, which is a rare anaphylactic sunlight/UV light allergy, and Hypermobile Ehlers-Danlos syndrome (EDS), a genetic connective tissue disorder. It was later determined my loop recorder complications were from my EDS as it causes poor wound healing and local anesthetic resistance. My other health conditions also sometimes make it necessary to take known QT prolonging medications. For instance, I have to carry EpiPens for my Solar Urticaria. It has been incredibly difficult to balance the LQTS risks with the benefits of treating my other medical conditions.
In 2017, my mom saw the SADS Foundation was having their annual conference in Toronto, Canada in September. Although that is on the other side of the country from me, when my mom found out that the leading expert in LQTS, Dr. Michael Ackerman (a Scientific Advisory Board member of LQT Therapeutics), was holding free 10-minute appointments; she knew we had to go to seek his advice on my complicated case. During that appointment, after reviewing my medical records, Dr. Ackerman told me I would be dead within five years if I did not receive an ICD and undergo a Left Cardiac Sympathetic Denervation (LCSD) surgery. He told me my doctors in Canada were majorly under-treating my case.
Again, I was scared and overwhelmed. Facing my own mortality at age 17 was exceptionally challenging. However, I was in the best place to receive this news because I was surrounded by other LQTS patients who had been through similar experiences, had ICDs, and had undergone LCSDs. It helped immensely to be able to connect with other patients who understood what I was going through and what it meant.
Alexis at the Mayo Clinic, 2018
When I followed up with my EP a few days after the conference, she had significant respect for his opinion and started the process of applying for OOCF (out of country funding) to fly to the Mayo Clinic in Minnesota, where Dr. Ackerman works, to have both my LCSD and ICD procedures performed. At the time, there were no surgeons experienced in LCSD in Canada, and the Mayo Clinic was the world’s leader in these surgeries, having performed over 100 at that time. I didn’t tell anyone (friends, extended family, etc) after I got home for close to two weeks. I needed time to understand what the news meant for me and how my life was about to change.
After eight months of back and forth with the out of country funding paperwork and requests for more information, my request was approved in April, 2018. I had both the LCSD performed and a dual chamber ICD/pacemaker implanted at the Mayo Clinic within a 24-hour period in June, 2018. Taking into account all of the factors in my case (multiple medical conditions, need for QT prolonging medication, history of events, test results, inadequate protection on beta blockers, beta blocker intolerance, arrhythmias on my loop recorder, etc.), Dr. Ackerman evaluated me as high-risk. Due to my high risk, he did not feel I would adequately be protected with either LCSD alone or an ICD alone.
I also suffer from the rare, but major, side effect of severe Postoperative Neuropathic Pain (PONP) as a result of my Left Cardiac Sympathetic Denervation surgery. The pain severely impacts my day-to-day life, and has not responded to any treatment so far. This is the part of LQTS that is the most difficult to live with; that I had the LCSD surgery to save my life but it has resulted in severe pain 24/7 and a major decrease in my quality of life. It’s a lot to live with, but I strive every day to live life to the fullest extent I can, despite my many challenges.
Currently, I take Nadolol and Spironolactone daily as part of my medical regimen to treat my LQTS. I also have the LCSD on board and have a dual chamber ICD that paces my heart at a steady 60 beats per minute. In addition to this, I have some activity restrictions, mostly around exertion - never exerting myself beyond being able to have a conversation in full sentences, with a buddy - and swimming. I have the restriction of never diving again, which I am okay with. I also need to avoid cold Canadian bodies of water and I can't swim alone. However, for the most part, I just live my life. I also do my best to avoid QT prolonging medications, but they are often necessary because of my other medical conditions and the possible benefits outweighing potential risks, so I often have extra EKG monitoring while on those medications.
Make-A-Wish: Alexis with the Law & Order cast
An important part of managing my condition that isn’t medical that I want to emphasize was my Make-A-Wish experience. I became a Wish Kid at age 16, and I later had my wish granted to visit the set of Law & Order: SVU and meet the cast - Mariska Hargitay, Ice-T, Kelli Giddish, and Peter Scanavino - in New York City in November 2018, at age 18. My wish could not have possibly come at a better time, as I was just dealing with the immediate consequences of developing Postoperative Neuropathic Pain from my LCSD and was feeling extremely down, alone, and hopeless. My wish still inspires me and gives me hope on the bad days. It was an absolutely incredible experience, and I am so grateful I had the opportunity to have it as part of my medical journey.
Describe some of your patient advocacy interests.
Due to the exclusion I faced after my LQTS diagnosis, I was inspired to become an advocate for diversity and inclusion. I was part of the National Diversity and Inclusion Action Group with Girl Guides of Canada and wrote national programming about visible and invisible differences that is in use today for Rangers (ages 15-18). I have also been a keynote speaker on my journey to inclusivity, written numerous articles that have been published on several platforms, successfully advocated for Girl Guides to include wheelchair accessible national and international travel opportunities, and led training sessions at the age of 17 that I planned for Girl Guide Leaders on Diversity & Differences.
I am also interested in advocating for accessibility, people with disabilities, and those with both visible and invisible health challenges. In May 2017, I attended the Rick Hansen Foundation Youth Leadership Summit as one of 150 young people selected from across Canada. At the Summit, we made pledges to make Canada more inclusive and accessible. My pledge, one that still sits on my shelf close to me, is; “I pledge to make Canada more inclusive by … sharing my story to educate people and change attitudes.” I keep this promise every time I share my story, like I am doing right now.
In May of 2019, at the age of 18, I attended the Canada Youth Summit in Ottawa, Canada's capital, on behalf of Girl Guides of Canada as one of two representing members, and was able to bring my advocacy efforts for diversity and inclusion all the way to the Office of the Prime Minister when I met Prime Minister Justin Trudeau. Later that same year in July, I attended the Experiences Canada National Diversity and Inclusion Forum in Toronto, where I presented a 20-minute play I co-developed advocating for economic inclusivity.
In addition, one of my more recent projects I am incredibly proud of was being a Youth Accessibility Leader for the Enabling Accessibility Fund through the Canadian Government. I applied for the highly competitive grant in partnership with my city after reaching out to the City Council, and my application was approved in March 2020. In July 2020, ultraviolet light blocking film was installed on the windows of one of my local pools, the GH Dawe Centre, making it accessible to those like me with allergies to sunlight and UV light.
Lastly, my experiences living with LQTS have inspired me to become a patient advocate for rare diseases. I administrate three different Facebook Groups for people with LQTS; one specifically for Type 5 patients, one for Left Cardiac Sympathetic Denervation patients, and one for teens living with LQTS. These have been invaluable for helping others feel they aren’t alone. I never want anyone to feel as alone as my mom and I did when we were first diagnosed, and then again when I started facing complications from my LCSD.
What goals have you established for yourself. Where do your career interests lie?
I am a very goal-oriented person, and I have big dreams. One goal I am currently working toward is becoming a Trainer with Girl Guides. I am currently a Trainer Candidate, and the youngest in the Alberta, Yukon, and Northwest Territories jurisdiction. I was 19 when I became a Trainer Candidate. I also have the goal to always volunteer to help others and give back in whichever capacity I am able to.
Currently, I volunteer on many youth councils, committees, and programs. I am also a board member of a non-profit charity in my city. Most important to me, however, is my central driving goal, which is to always be living my life the best I can rather than simply surviving.
As an advocate, I like to say my goal is to be no longer needed. It’s the one job I would really love to be unnecessary some day. That is truly my goal. If not, I strive to at the very least make the world more inclusive and accessible for those who come after me, so they will hopefully not face similar struggles.
When it comes to writing, I strive to tell my story in a capacity that will be truly helpful to others facing similar situations. I also really would love to eventually publish a memoir book someday of my story. My friends lovingly joke that it is so unbelievable it could be sold as fiction.
Finally, I am a traveller and I would like to visit all seven continents, all 50 states, all 13 Canadian provinces and territories (I’m currently at nine, including all three Northern territories), and both Belgium (where my mom’s heritage comes from) and Sweden (where my dad’s heritage comes from).
As far as a career, I have wanted to become a genetic counsellor since I was 14. That is still my ultimate goal. I've always known I wanted to be a woman in STEM, and more specifically, science. I want to help other patients like me living with rare genetic disorders, especially those that are life-threatening. Having gone through genetic counselling twice as a patient - once where I received my LQTS confirmation through genetic testing, and again when I was diagnosed with EDS - I am quite familiar with the patient-side of the picture and have a unique perspective for helping patients going through similar situations. I am currently taking chemistry classes as my first step before I can apply for my university major in Life Sciences.
What activities give you the most joy?
I gain my joy primarily from being a Girl Guide, volunteering as a Cat Cuddler and Small Animal Socializer (yes, that is my job title) at my local Humane Society, snuggling with my two adorable bunnies, Cinder and Frost, photography, sewing my Girl Guide badges onto my Camp Blanket, knitting hats, geocaching when I am able (after dark or on days with a low UV index), watching curling, attending concerts and listening to music, writing and sharing my story, and my advocacy efforts for diversity and inclusion, as well as patient advocacy.
Another major source of joy for me is to travel. I just love exploring, learning history, and seeing the beauty and diversity the world has to offer. I also volunteer because it brings me joy just as much as it helps others. Currently, I serve as a member of the PREVNet National Youth Advisory Committee, the Minister of Education with the TUXIS Parliament of Alberta, a board member of Volunteer Central, with the Students Commission of Canada as a member of their Be The Program on tackling teen dating violence, and as a member of the Students Commission of Canada 2020 Social Identity Formation and Mental Health Team. I also volunteer with Girl Guides as a Trainer Candidate and Link Member, and with my local humane society cuddling cats and small animals, at special events, and helping to certify therapy dogs.
What do you hope to achieve by sharing your LQTS patient journey with others?
I hope that by sharing my LQTS patient journey with others, they will feel less alone. Especially those facing complications from their treatment plan, young adults, and those living with a rare type of LQTS. I never want anyone to feel they are alone in dealing with LQTS or the challenges that can come with it. Despite LQTS being a rare disease, there are many people out there that can understand. I also would like others to know through my story that LQTS doesn’t own you. It is still possible to live your life in a meaningful way, even if that looks different to what you previously anticipated. I always like to say that I may have Long QT, but Long QT does not and will not ever have me.
