How each member of my family deals with FH in their own way. A special installment for FH Awareness Month I was never a momma’s girl, like my sister. But there are two moments in my life when mom and I had a bond stronger than anything else. Stronger than any other bond that I have forged with anyone else. The first one I can’t remember, but it must be the day I was born. That first moment when she held me in her arms, as her first born must have been something very special. And it was special for me, too, I am sure, to see for the first time the face of the woman whose stomach I kicked for months. The second one was the day my FH was essentially discovered. My mom was the person who was testing my blood, and trying to measure my cholesterol for the very first time in my life. As a biochemist tech in a hospital, it was her job to test the blood and see what the level was. I said “trying to measure my cholesterol” because she could not measure it right off the bat. Her machine was calibrated to only measure up to 5 mg/dl of cholesterol. Mine was much higher than that. The machine was giving her an error, meaning it was higher than what it could measure. She had to do some magic chemistry tricks, with dilutions and what not, to figure out mathematically what my cholesterol was. So, my first value (she set it as 734 mg/dl) was a calculation, rather than a straight up measurement by a machine. It was my mom’s math. At the time, they did not call my condition “Homozygous FH”, or at least my parents were not calling it that. They were calling it “a very severe form of FH.” In those days (1983), they believed that my levels occurred in about one in a million individuals. Can you imagine: your first born has this very rare disease, she is one in a million people on Earth, and your hands, and your knowledge are the ones who testify it to the world?! That must have been the second pretty special moment for mom and me, too. As they say, if you have found one FH patient, you have found a whole family of us. And this is always the case. We already knew my father had FH. His cholesterol has always been in the high 300’s and low 400’s. His father’s cholesterol had always been in the mid to upper 300’s. My father’s father had his first stroke when he was 48. His second major one, at 50, left him paralyzed and bedridden for the next 12 years of his life. He died at 62. My mother’s mother (the only parent she knew really well and was still alive when I came along) had low cholesterol, so mom never tested her own. She always thought dad is the only one in the family with high cholesterol, and that he and grandpa gave it to me. It was not believed then that the “very severe form of FH” that I was diagnosed with could potentially come from both parents. As mom grew older, she tested it, more of a curiosity than a necessity, she believes, and hers was always elevated, too. But she always thought it’s because she eats badly. In Romania, the food is all home made, and very rich in fried oils, mayo, and red meats. It was not until I was finally diagnosed positively with Homozygous FH (this year, at age 42) that it was clear to us all that both of my parents have FH. She now believes it, too, as she finds lypomas on her skin, as she ages, and she has also been diagnosed with high blood pressure, cardiovascular disease, and heart failure. And my family bonds don’t stop just at my parents. My aunt, my father’s sister, has always had high cholesterol, too, in the upper 200’s, mid 300’s. She has had over the years multiple stents inserted in her peripheral arteries, and about a month ago she had an ischemic stroke. She has a-fibrillation, tachycardia and arrhythmia – all caused by vascular disease because of high cholesterol. She is 67. She had her first stents put in in her 50’s. My sister has been formally diagnosed with FH a couple of years now. Because her levels are not astronomically high like mine, she, too, believed, it comes from her diet. But she lives one of the healthiest lives I know. She takes virtually no medication and she eats healthy, she runs and she lives in a huge city. She can’t drive, and she has a one hour (one way) commute every day – she takes multiple public transport options and she walks. Her cholesterol is still higher than normal (low to mid 200’s). It took some time for her to believe this is FH raising her cholesterol and not the chicken she was occasionally eating. This year, her youngest son, who is six, was diagnosed as “borderline FH”, because his LDL is 170 mg/dl – somewhat high for anyone, but especially for a 6 year old kid with a very healthy diet. And this is my real life FH family … as far as we know. So far, both my grandmothers, as well as my oldest nephew are the only immediate blood-related relatives that have not been affected by it. It is interesting to see how we each decide how to live with it, and how we deal with it every day. There is the free will component in the way you deal with any disease and I have learned over the years that it is ours alone and it is not to be judged, even when you don’t fully understand it. Or especially when you don’t fully understand it. I have lived my life with many doctors’ appointments on my calendar. I always want to know the most there is to know about how much damage cholesterol has done to my arteries. I know my levels, I know my heart numbers, I know when I am due for my next investigation. I do an echo and a carotid ultrasound every year and I have cardiologist appointments every 3 months. Because I always know, I managed to have a very involved heart surgery that cleaned out my clogged up heart parts at 42 and undoubtedly extended my life by many years. Without having been in the know about my levels, the damage that’s being done to my arteries, and having been monitoring my heart and circulation closely, without having been on medication to keep my levels low (although still high by all other standards) for the past 20 years, I would not have made it to 42 and beyond, almost surely. I also have chosen very early on to not have kids. I see no personal purpose into propagating this disease, and committing someone else, an innocent human being to the life I have lived. It’s been a good life, but that is my judgment. Someone else might have seen it as a burden and I do not want to give that burden to anyone else, consciously. It stops with me, when I could control it. My sister chose to have kids, and I think she is brave. She is also some days in a state of denial, because she still believes diet and exercise will keep her values healthy. She finds out the hard way that is not true. She does take drugs now, but not as religiously as she should – she does not tolerate statins as well as me, either, so it’s not easy. She eats well, is not overweight, is very active and she sees her cardiologist every 6 months. So, she is definitely working to know more about her body and keeps a close watch on the disease. My aunt only decided to do something about her cholesterol after the complications from it hit her hard. She did not take statins or heart medication before she had stents and the stroke. Although she is medicated now for the complications, she is still not medicated for her cholesterol. She does not keep a strict diet and she is overweight. And then, there are my parents. Both of them have visible lypomas which give the FH away. They both have high blood pressure and cardio vascular disease. My dad has almost no peripheral circulation left in one leg and about 50% left in the other. My dad has been suspected of having mild strokes in his 50’s already, but having not left visible signs in his mobility and mental behavior, they are not sure. My mom takes statins and Zetia occasionally, but not religiously. They both take heart medication. Their cholesterol levels are in the mid 300’s constantly and their blood pressure is almost always high. Both of them don’t believe in diets, or exercise, because they think even with a healthy diet and an exercise regimen their cholesterol would still be high. They are correct, but I am sad, because their extra weight and fat diets are putting even more stress on their already strained hearts and brains. They don’t even get regular physicals, and they only go to a specialist when something is definitely so wrong they can’t function. My parents are of a very old and very Balkanic mindset that we all owe a death to God and one day, sooner or later, we will die of something. They see no point in trying to push that death as far as we possibly can, at least the death from this disease. They also don’t believe in ‘quality of life’ – their quality of life is miserable right now, but life ‘is supposed to be hard’ and ‘you’re supposed to be sick in your old age’. They are in their mid 60’s and have been sick with the complications from cholesterol for most of their adult life and believe that after 50, you are certainly old and not expected to be healthy at all. Therefore, they see no point and no value in medication. They only take it when it’s too late, and only to treat the symptoms of the disease, not to prevent any damage from it. There is still to see how my little nephew will handle this, but my sister and I are trying to be good examples for him. So far, his mommy, my sister, is monitoring his numbers and watching his diet. He is too young for statins yet, and his levels are still borderline high. But this will be something he will have to watch in himself and possibly his children, too. As you see: we all chose to deal with this very differently. You can do some things, and you can do nothing, but the effects of FH are pretty much the same. Now, they are known and they are manageable with medication, or, in my case, with surgery, too, but you have to be willing to manage them. I have tried to use my own story to teach others about FH and share with them my journey, what to expect, what are some brighter spots of hope. My family knows about this journey way too well. But there is a difference between knowing and acting. If they have taught me anything is that you should share freely without putting strings on that sharing. However close to your heart some people might be you may never convince them to see what you see. I know – this is platitude. I cherish every one of them for sharing this journey with me, so it feels less lonely. I also am deeply grateful that they gave me this disease – this has made me who I am today and I am happy and grateful that it has taught me so many things about my body, our health and how not to take even one breath nor one heart beat for granted. And as chance would have it, there is yet another connection with my mom: The FH Awareness Month is September, which is when she was born. Happy birthday to mom and happy awareness to all of you! I found in my own life that being aware and knowing the risks, the numbers, the progress of this disease can ensure you are here, on the right side of dirt for many years beyond your original prognosis. If you learn about this disease now, I hope you find out all the people in your own families that might have it, and I hope you find the drive to manage it well into your advanced ages. May your paths be adventuresome and leading you to good health and long years ahead! If you’re still looking for more resources about FH, check out my Helpful Links section, or drop me a note. I’d be happy to share more!
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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.