When we heard the 2017 SADS Conference was going to be held in Canada, it seemed like a sign for my mom and me as Canadians. In the past, we had not been able to get insurance to travel outside of the country after her sudden cardiac arrest 5 years prior. Since it was in Canada, we no longer had to worry about getting out of country travel insurance to go. Even so, it seemed like a totally crazy idea at the time, but my mom told me she had a feeling we needed to be there. So, my mom and I flew approximately 3,000 km from the western province of Alberta to the other side of the country to Toronto, Ontario to attend the conference. Since I was diagnosed with Long QT Syndrome when I was 12, I had always wanted to attend the SADS conference. I wanted to meet other teens and people my age living with Long QT. It was a maybe, someday, sort of dream for me. In the years prior, I had diligently followed the conference posts on Facebook support groups and on Twitter. Even so, seeing posts in my news feed is completely different from actually being in the room with the experts.
The other major draw for attending the conference was when we found out Dr. Ackerman who is one of the world’s top experts in LQTS, was doing off the books, free 15-minute appointments with patients. That sealed the deal. For the past 5 years, every time my dad bought a lottery ticket he would joke that the first thing he would do with the money would be to send my mom and me down to the Mayo Clinic to see Dr. Ackerman. That dream became reality for me without any lottery win required.
In the years prior to the conference, I had been passed from specialist to specialist in the medical system. I had been told I am too medically complex to treat since Long QT is not my only diagnosis. I live with two other rare diseases believed to have a genetic component and several other medical diagnoses. I have Solar Urticaria which is a severe, difficult to treat allergy to ultraviolet light including sunlight, black light, and some visible light and a joint disorder that causes hypermobility and chronic pain. I had been told there was nothing medical science could do to help me. I had been told to put plywood on the basement windows, move down there, and avoid all sun exposure. I had gone through years of trying every single treatment available for my medical conditions that was not on the drugs to avoid list and none of them working.
How much can one learn in 15 minutes? By the time our appointment came early Saturday evening, I wasn’t sure. Others that had already had their 15-minute appointments had said that the recommendations were often not specific and he told them to come down to the Mayo Clinic for further evaluation. That is what I expected, and that would have been alright. I had already had the opportunity to meet another teen living with Long QT and his mom who had travelled all the way from Germany. We also had been able to meet many of my mom’s online LQTS friends in person. I had been able to question Dr. Ackerman in the fireside chat about whether the KCNE1 gene is disease-causing for Long QT. He called LQTS5, my type of Long QT, a “rock solid disease-causing gene”. I had gotten to hold a model of the loop recorder that had been in my body for three years, my mom’s S-ICD, and other ICD models for the first time. All of those experiences had already made the conference priceless for me.
My mom and I were called into a small boardroom for our appointment with Dr. Ackerman. The first question he asked us was “What do you want to get out of this meeting?”. We answered that we needed a way to be able to treat my entire medical picture. In the following 14 minutes, I was blown away. He came up with a four-step individually tailored treatment plan just for me. He looked at my mom and told her that the first step he would take if I was his daughter would be for me to undergo a Left Cardiac Sympathetic Denervation surgery. Everything faded out at that point. I froze. The next several minutes were a blur until my mom asked me what I thought of Dr. Ackerman’s plan. When I asked what I had missed, I was told that I also needed an ICD. Then, the third step of his plan would be to take me off of my high dose of beta blockers so that I would not have to endure their side effects anymore. Then, I would be able to try other treatments to treat my other medical conditions. If I received shocks, we could reevaluate. He told me that my EP had been seriously under-treating me and that I would be dead in five years without these major changes to my treatment plan.
As we were about to walk out, my mom showed him our genetic testing results for a “likely disease-causing” mutation for LQTS type 5 and asked if this mutation was the reason we have Long QT. He examined the report and told us without a doubt, yes. He called it the “smoking gun”. Because of the location of the mutation on the gene, that it is not seen in healthy people, it results in an important amino acid substitution, and other factors he declared it “definitely disease-causing”. My mom was extremely reassured that we definitely know the cause of Long QT in our family.
After the appointment, the only emotion I could feel was shock (pun intended) that I needed both a LCSD and an ICD. However, I was incredibly thankful that we now had a plan not just to keep me alive but to also let me live. With this plan, I would be given the chance to have quality of life. I didn’t tell anyone other than the people at the conference for a few weeks after I returned home. I needed time to process what this plan meant. However, I believe there was no better place for me to be when I received this news. Instead of being alone and scared in a doctor’s office at home, I was surrounded by people who got it. There was an entire room of people who despite having circumstances unique to them, all understood what it meant to be given this news only a few feet away.
After the news, I met a rocket scientist from Alberta who told me all about her experiences living with an ICD in the Alberta medical system. She even gave me a recommendation for an EP who later became my new adult EP when I aged out of pediatrics after my surgeries. I met a young woman who underwent LCSD at the Mayo Clinic as a teenager and we had an extremely helpful discussion about what to expect, scarring, and side effects over dinner. Several people even let me touch their ICDs so I would know what mine would feel like actually implanted in my body. The greatest irony of all, however, is that my mom decided not to attend the session on LCSD earlier that morning because she thought neither of us would ever have one since it’s so difficult to get in Canada. She still regrets that.
I happened to have an appointment with my EP a week after I came home from the conference. She was on the edge of her seat (literally) to hear what Dr. Ackerman had to say. I was nervous about how she might react to being told that she had been under-treating me. Despite this, she took his recommendations very seriously and began the application process for out of country funding to go to the Mayo Clinic for the Left Cardiac Sympathetic Denervation. She had talked to the top hospitals across the country in Canada who all informed her that they had only performed single digit numbers of these surgeries and would not do them again. So, since the Mayo Clinic had the most experience by far and that was where Dr. Ackerman worked, she decided to send me there.
What followed was eight months of waiting for the out of country funding application to be evaluated, rebooking the appointments at the Mayo Clinic, denials, requests for more information, and heartbreak. In January, I received a letter in the mail that I had been temporarily denied until they received more information. In March, I had to postpone again. Finally, on April 25, 2018, eight months after the SADS Conference, my out of country funding application was approved. After everything, we finally booked the dates to officially go to the Mayo Clinic. Since I had waited so long and been told “no” and “not yet” so many times, it never felt real to me. None of it was real until June 24 at 5 am when my dad dropped us off at the airport to catch our plane to Minnesota.”