I am often asked “what specialists do you see with your condition?” - as if this would be a mandate you would make and not let your condition, the symptoms you have lead that decision. The answer I always give is “I can tell you the current specialists I see, but this is because of how the disease progressed for me. Your list might be totally different."
I am not an advocate for loading up on specialists just on principle, because FH is so complex. Instead, I am in favor of knowledge and true empathy when it comes to the medical teams I work with. I think you should look at your numbers, listen to your symptoms, know your history, know your condition, know the science and stay on top of the available treatments and then get to the specialist that has the answers for how you can manage it.
I am constantly surprised by people who don’t want to know what they have or who know what their children have but decide “not to tell them till they are older.” I think in FH time is health and truly time is life. The earlier you know the most about your condition, the more you know, the better prepared you are to tackle it head-on and ensure you keep better quality in your life.
My journey started with my godmother who was a pediatrician. And even before then, you can say that it started with my school nurse, in elementary school. After I collapsed in PE class because of a pain in the right side of my abdomen, she told the teacher who told my mom that I need a pediatrician consultation. After that and after measuring my cholesterol and seeing the LDL at 520 mg/dl, they sent me to endocrinologists for the first couple of years. At the time (1983 in communist Romania), all they did was shrug and deem me as good as dying. They didn’t give me a chance to live longer than my mid-20s. I was 8 at the time. They kept telling me that I am “rare”, one in many millions, they said, and they have no treatment for people like me.
I didn’t see a cardiologist until I was 19 and in college when my pulse started rushing off the charts - in the 120s right after a nap. She diagnosed me with tachycardia and arrhythmia and prescribed a beta blocker which she said I would take for the rest of my life. She also told me to watch my blood pressure and she did my first echo which showed the first signs of plaque and poor blood flow through my heart arteries.
After moving to the US, the first established PCP I had insisted that I would be followed by a cardiologist, again, for the rest of my life. This was 1998. I was 23. I have seen a cardiologist ever since.
Over the years, I also got consultations from at least one more endocrinologist, but also a lipidologist, a cardiac surgeon, several vascular surgeons, and now, recently, I started seeing a neurologist.
I went to a well-reputed endocrinologist when my cardiologist at the time advised that maybe this one person (who was somewhat of a big name in a well-known research clinic) might have additional advice about my treatment, advice that he, as a (small town) cardiologist, felt like did not have access to. The endocrinologist did have helpful tips for how to manage my medications, what to introduce when and in what amount. He also got me completely in love with Dean Ornish and advised that I should follow the Ornish diet and lifestyle which I still follow today (this was around 1999). Like always: I am not endorsing any particular treatment; I am just mentioning what works and appeals to me.
I went to a lipidologist for much of the same reason: I wanted to explore a deeper understanding of my condition and of the treatments that were becoming available when I didn’t feel like my cardiologist at the time was exploring everything that was possible. The lipidologist did have additional treatment options but he was not covered by the insurance and his fee was steep, so I continued to look for cardiologists that would be able to provide the same treatments. Luckily, this was possible, and now my cardiologist also manages my lipids.
Being involved with the Family Heart Foundation opened up my eyes to research and specialists that constantly speak about what new therapy is approved or is in research. Access to this information sometimes makes me feel a little bit more ahead of the curve, even more so than some of my own doctors.
You always have to remember that general-practice doctors treat everyone. And we have a rare disease. As good as a doctor may be, they are trained to treat the average person with the average disease, probably something that they picked up as a result of aging or bad habits and to a lesser extent as a result of a genetic mutation. So, follow the specialist - always, whatever the disease is. Because they have time and curiosity to focus on outliers and nuances. Maybe. If you’re lucky to find those doctors who are. It’s not always a given, as it is often with anything.
In 2016, I met my cardiac surgeon who performed my open-heart surgery and who continued to see me until his retirement last year (for 9 years, if you’re doing the math). He was crucial in making me understand how to live with my newly reshaped heart and teaching me how sick my body really was (and still is) because of cholesterol damage. In very visual terms, he described the anatomy of my arteries, how PVC-like they are and how close to almost shattering. He explained the risk for aneurysm and aneurysm bursts, he also explained and prepared me for what to watch out for outside of my heart - my carotids, my abdominal aorta branches, the vasculature that is responsible for irrigating my entire body and the most vital organs. I think of him as my complete-anatomy doctor. He truly was a blessing. These consultations led me to start seeing also a vascular surgeon. They do yearly tests to assess the progression of my disease in the arteries in my body.
Right after my surgery, and because of the conversations I had with both my cardiologist at the time and the cardiac surgeon and because of information I had gathered from The Family Heart Foundation, I looked into genetic testing. I did my first genetic test in 2016 and at the age of 41 I was finally clearly diagnosed with HoFH and not just FH. And not just “dislipidemia”. I continue to take every opportunity to meet with genetic counselors and consultants to understand what is on the horizon for our disease in this area of knowledge. I also meet with them to benefit them. Oftentimes they tell me that they are studying genetic lipid disorders but they have never met someone living with a disease as rare as HoFH to actually know what our lives are. I take the opportunity to teach them in these meetings as much as I take the opportunity to learn from them and their science.
I met with a neurologist twice now. Once for a nerve study when my cardiologist at the time thought my peripheral disease caused nerve damage in my legs. The neurologist who did the study concluded that there was zero nerve damage in my peripheral nerves and sent me on my way.
About 4-5 years after that, I met with a second neurologist after an MRI diagnosed that I had a stroke. This was earlier this year. The neurologist, much like the first cardiologist I ever went to, agreed to see me on a regular basis to continue to do annual brain CT scans to observe the progression of my atherosclerosis in the arteries of my brain. We took a baseline CT this year and we will follow up every year. He said everything I am doing to live a heart-healthy life works nicely for a brain-healthy life. He said (which was repetitive for me as I come from “the stroke family” - we have decidedly more strokes in my FH family than heart attacks) that FH puts me at a higher risk for strokes and for this I should be followed by a neurologist just as closely as I am followed by a cardiologist. So, welcome to the team Mr. Neurologist.
At this time, I am seeing my cardiologist for heart monitoring and lipid management. He is the number one manager of my condition and the state of my heart. I also see a vascular surgeon once a year who monitors my carotids and my abdominal aortic branches which have various degrees of stenosis and dilations (precursors to aneurysms). Now, I also see a neurologist. And this is my “FH Team”, in addition to occasional genetic counseling when available. For now.
I think it is not always important what specialists you see - but it is important that the ones you do see know your condition intimately and navigate it with you in mind. Each FH case is unique and presents unique challenges and opportunities. You need to be with someone who is curious and knowledgeable at the same time, because this field is developing constantly and our possibilities for treatment and management grow more and more. Someone who listens to you and your case and the development of this disease in your body. Not someone who does everything “by the book”, but everything “right by you, and you alone”.
I have had to “fire” doctors many times in my “patient career”. There have been doctors that were either unempathetic or completely misinformed. I took the liberty to say “yes, when it comes to me, I do know better than you. The science is there. I know it. I see it. I read. And you don’t have it. And I know my body better than you. Always. So, you’re not going to be my person.” Being in the wrong relationship is always wrong and unhealthy, no matter the reason or the scenario. It hurts both people. So, sometimes you’ll have to move on, maybe drive longer for the right specialist, maybe move to a different town or even state or, in my case, country, to get the proper treatment, but in the end it is worth it.
Stay alert. Stay informed. Stay curious and never take a break from this. Just like your life, your health is a full time job. This is your health, your life, the quality of your every day and the memories you are here to build. This is precious cargo. Care for it gently and passionately!
Good luck in your journeys.
