I was diagnosed with FH when I was 8. That was in 1983, and it was back in Romania. Back there, it was a very rare and obscure disease, but they at least knew enough to know it is inherited from a parent and that you would have 50% chance to pass it on to your kids. My numbers were off the charts high, far more than my dad’s and his dad’s before me. They did not make the distinction between Heterozygous FH and Homozygous FH at that time, to understand that my numbers were so high that both my parents probably have it. They never suspected my mother. Her mother did not have high cholesterol so she didn’t think she did, either, and she never tested hers till much later in life. After all, she was 30 when I was diagnosed. Unless you had a family history of high cholesterol, heart disease, or strokes, like my dad had, high cholesterol was an old people’s disease. There were no effective drugs in Romania and apheresis was never offered to me.
I came to the US in 1998 and I was put on statins right away which slashed my numbers in half (I was in the upper 300’s) – still high but lowest I had ever been. I struggled to learn more information about my disease. All the doctors I was seeing, although they said the name of the disease to me, never put the name of my disease on a medical form. I insisted with every visit that I have Familial Hypercholesterolemia, but they kept writing “dislipidemia” or “complex dislipidemia” or “high cholesterol” on my charts. I wanted to understand why my numbers are so big, and why some people (like my dad) had lower numbers. I wanted to understand what other treatments science was working on, I wanted to understand how other people with FH live and how their journeys were, but I found no information at that time.
Finally, after many years of a knowledge vacuum, I decided to start this blog, in 2011. I was hoping that at least I could document my own story and some other people that would just now find my blog and see some similarity between my story, my family’s story, and theirs might learn something they were eager to know, like I was.
Shortly after that, the FH Foundation was founded (same year), but I did not learn about it till maybe 2-3 years later. Since then, lots of positive things have happened for me, and for many people with this disease:
- Thanks to the exposure to the FH foundation and the education that they do, I have learned about the difference between HoFH and HeFH after I was genetically tested for this. I know now that I am an HoFH patient and that my mother most positively has FH, as well. She is now religiously taking statins, although the CVD damage has already been done.
- Also thanks to the FH foundation I have met a lot of people like me and I understand more about everyone’s challenges with this disease. I know now that we’re not all alike. There are as many symptoms and medical resources as are patients, for the most part. There is no ‘one size fits all’ when it comes to the symptoms, the complications, or the medical resources we have available to us for treatment when it comes to this disease.
- The FH Foundation played a huge role in getting our disease a medical code, so now our claims can be properly filed with our insurances – our disease is not just a disease of “high cholesterol”; our disease is treated differently than just high cholesterol and our risk factors for heart disease and stroke are very different than the “regular” high cholesterol patients.
- Through the network of physicians and researchers that they work with, the FH Foundation continues to play a huge role in educating clinicians about this disease so they can be better prepared for patients like us.
- We now have websites, Facebook pages, Twitter feeds, Instagram accounts where people document their stories and share information with all of us.
- We now have an FH Awareness Day and Month! We have come of age!
My latest proof about how far this disease has come, in recognition alone, came just this past week when I received yet another write-up from my medical chart after a doctor’s visit. This was not a note from the cardiology office, but from my regular doctor. I am including the picture below. This is the first time in my 43 years of life and in my 35 years as an FH patient when I see my disease spelled out for what it is on paper.
Tomorrow is FH Awareness Day – another incredible proof of how far we have come. I am incredibly grateful to what every patient, every advocate, every clinician is doing to bring this disease out from obscurity and share the wealth of knowledge we now have about it. With every small step, we make a giant leap towards much better quality of life and possibly longevity that FH patients will have for many years to come. I am looking forward to many more years of accomplishments and recognition.
To all, good luck, much health, and let’s all share the story for a brighter, more knowledgeable future ahead! Oh, and Happy FH Awareness Day, too!
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Blog Post by A.W.
About this Blog
In this blog I will follow my everyday journey of living with familial hypercholesterolemia (or FH). I am sharing my own experience with this inherited disorder, and how I manage it daily – from what literature I read on the topic and what my doctors say to how I live my life (what I eat, what medicine I take, how I exercise, etc). This is solely a personal account that might or might not offer some insight on what to expect when diagnosed with this condition. This blog does not offer advice, in any way, to anyone suffering from this disease.