I will go over all the therapies and treatments I have gone through myself all these years, but I just wanted to make note of a new study that I have not heard before: stem cells and gene repair therapy to cure FH.
I have known all along that being a genetic disorder, no drugs will ever fix this. Many times I was offered the option of liver transplant - the main culprit in the poor metabolism of fats.
I knew there was not going to be long before they address the real source, the genes - and here it is: http://www.medicalnewstoday.com/articles/220995.php.
"In the end, when we look at our life, the questions will be simple: Did I live fully? Did I love well?"
(Jack Kornfield)
"The proper function of a man is to live, not to exist." (Jack London)
Wednesday, April 6, 2011
Saturday, March 26, 2011
My Story
I honestly cannot remember the exact date, nor the exact year. For most of my life, I thought I was around 6, but tests and medical records I have saved over the years have shown that it was 1983. So, if that was the year they “discovered me”, then I was 8. I actually think I was almost 8, because I know it was in the winter. I am born in April, so, if it was January 1983 or so, I was not 8 yet! Anyway, this is a minor detail. I was in second grade. For (almost) sure.
I remember overhearing my dad speaking on the phone to my mom, who was at work. All I remember was dad crying and saying “Oh, my God. What a life will she have? No life. No life at all. No joy. No kids. No vices. If she ever makes it that far”. Because they just drew blood from me, I figured it was about me, but I didn’t know what just happened. I remember I was in an armchair, writing, I don’t remember what. And overhearing this.
At that time, it didn’t mean much to me. I didn’t even realize that … I was sick. I was just a kid and wanted to do all the things that kids do. Little did I know, my life would not be anything like a kid’s life from that point on!
It happened in PE class. I remember that, too. They made us run laps around the track, at school, in second grade. And that was the first strenuous physical activity I performed. And while running, with all the other kids, I collapsed, bending myself in two, and screaming that the right side of my stomach hurt. The teacher thought I was faking it, and asked me to stand up and keep running. I could not. She gave up and called mom. She told mom I collapsed in tears, and I refused to get up, so she thinks this time I was maybe not looking for excuses to get out of the class. I was never a sportsy kid!
Mom sat me down and asked me to tell her the truth. She always told us “we can lie to whomever else, but not to our parents. They always need to know the truth, so they can help us”. And I did. Tell her the truth, that is. I told her that when I run, my right side hurts, right under my ribs. She said: “That’s your liver”. I didn’t know what that meant, but I was glad she believed me, because it really did hurt.
Long story short: she took me for an appointment with my godmother, who is a pediatrician. My godmother said that the liver usually never hurts (we have no nerves in our liver), but it does hurt if it’s enlarged. And my liver was enlarged. She asked mom if we have any history of liver disease in our family, or liver metabolism disorders, and mom said yes: my dad’s family has high cholesterol – which is a metabolism disorder of the liver, basically. So, my godmother ordered a complete liver panel and a complete lipid panel (i.e. cholesterol and triglycerides).
Mom works as a biochemist specialist in a hospital lab, so she took me in her lab, had my blood drawn and did the tests herself. When it was time to measure my cholesterol, the machine that she used flipped! It could not measure a value that high. She did some complicated dilutions of my blood (remember, this was Romania – 1983! So technology was scarce!), and she came up with my total cholesterol of 734 mg/dl. She looked up the “patient” (I was just a number, on a vial), and she realized that was me, her daughter. She almost fainted! She called dad, and that’s what I overheard him say to her – his reaction to the findings.
As you can tell from comparing my level to the normal levels of cholesterol , my values were extremely, dangerously high. But what was more severe than that was the facts that: 1. They were the highest in my family’s history (their levels were in the 400’s) and 2. There was nothing known to the Romanian medical world at the time that could handle this disease, much less “cure” it.
After this finding, I went through many, many long years of seeing various doctors, and trying out various treatments with no significant change in my cholesterol levels. My medical charts that I still keep show my first blood tests as this:
Total Cholesterol: 734 mg/dl
HDL Cholesterol: 88 mg/dl
LDL Cholesterol: 525 mg/dl
I don’t see a value for triglycerides for that first checkup. But my triglycerides have always been normal. And one thing they always tell you is that triglycerides are the only lipids that cannot be (or very rarely be?!) inherited. They are usually a mirror of your lifestyle – usually, that’s how your doctor knows where your cholesterol comes from: if your triglycerides are off, that means your lifestyle is to blame! If only your cholesterol (and particularly your LDL) is off, than it’s either your lifestyle or your genetic makeup. For me, it was obviously, my genes.
The first things they tried was diet! A lot of diet. Nowadays, living in The States, I am overwhelmed by how many diets people try just to stay slim. I have never been overweight. Ever. But I tried everything, just to stay alive – according to my parents, and my doctors at the time.
In terms of dieting, they took all protein away from me: all animal products, meats, eggs, milk, cheeses – I was not to eat any of these. I was not allowed to eat anything fried, and not many carbs, either, as it was believed that carbs and sugars turned into cholesterol, as well. So, basically, I was going to eat just salad (or “grass”, as mom called it), carrots, and apples. And that was pretty much it, for a while.
It was also believed at that time, that 2 lbs of apples a day (1 kilo) would lower cholesterol, so my family made me eat that many apples every single day for a while. I cried and ate them, because they would not let me leave the table till I did. My cholesterol was still high.
I will make all the drug therapies I have been through over the years the subject of another blog, but in the beginning, all I was treated with was a very strict diet, and cholestyramine (http://en.wikipedia.org/wiki/Cholestyramine ). This drug was evil, like many drugs henceforth. It gave me indigestion, gas, and made me throw up every time I took it.
Now, just picture this, if you would: you are 8. All your friends eat chocolate, cake and fries, and your sister, and your family eat chicken for dinner, or steak and fries every night. And I have to eat boiled food (oil fried anything was a big no-no!), with no taste (salt was believed to be bad for me, too), ‘grass’ (as in lettuce), tomatoes, and 2 lbs of apples a day, AND … take this powdery thing three times a day, to make my cholesterol low. I felt fine, unless I ran, and then the right side of my stomach would hurt. But I was forced to be on this regimen “for the rest of my life” and I didn’t quiter get it.
For a couple of years, I managed to keep this strict diet, with the help of my entire family. I saw more doctors as a child than anyone needs to see in a lifetime. Every doctor came up with another drug recommendation, but every doctor admitted that it was a shot in the dark – there was nothing on the market at the time that could tame such high levels.
The specialist I saw in Bucharest diagnosed me as a homozygous dyslipidemia patient – which is, to this day, the hardest to handle. He said there was one other kid, my age, in the whole country that had the same disorder as me, and usually this happens every once in a million people. I felt pretty special, as you can imagine!
Like I have said, I can’t remember ever feeling “bad” at that time, other than always running out of steam faster than all other kids my age. But that was OK for me – I liked books better than bikes anyway! I do remember my parents’ lectures: “You’ll never get married. You can’t have any kids. You will never smoke or drink alcohol or coffee.” In the meantime, my paternal grandfather, who had the same disease as me and my dad, had a massive second stroke, at the age of 50, which left him paralyzed and bed ridden. My parents always told me I will end up like him, only sooner, probably, because my levels were so much higher.
Even back then, everyone knew there was a connection between high cholesterol and thickening of the arteries, which could lead to heart attacks, strokes, or just malfunctions of all major organs. There was no known drug to cure this, and no known successful therapy for levels such as mine, but the complications of such a condition were believed to be pretty de-habilitating.
I know that after a couple of years, and no genuine progress from any doctor’s recommendations, my mom gave up on the diet. She noticed that I was not developing at a “normal” pace, compared to my girl friends. So, she decided that since she wanted me to “grow” and since this disease is inherited, so it’s encoded in my genes, no “lifestyle changes” could make a difference, so she put me back to chicken and potatoes and no apples when I was 10 or so.
I still seldom ate anything fried (except for fish), and I she tried to keep me away from milk, eggs, and red meat (beef and pork). To this day, I still feel queasy about beef, and rarely have it, and I absolutely hate milk products. I can eat cheese if it’s mixed into and cooked in foods, and I absolutely hate apples! But apart from that “weird diet” … I can tell you that I have had a normal childhood, and a pretty normal life, as a teen and young adult. I knew my disease was something I have to live with, and make friends with. I made it my lifestyle, and we became good pals! And never felt like I was missing out on life. I couldn’t! I was always determined that I should have as normal of a life as I could muster. And my parents helped a lot to insure than, even when all the specialists of the world failed us!
My total cholesterol levels from 1983 till 1998 (when I moved to The States and another approach to my therapy started) wandered anywhere between 525 and 609 mg/dl. As you can tell, with the normal levels being around 240, I was way off mark!
Like I have mentioned, all the drug therapies I had tried during this time will be the subject of another entry – and all the other approaches they took to “figure me out”. But for now, my family was in a state of shock, at first, and later of educated ignorance about what my diet should be – because diet was the main thing that was triggered, really. And they have always treated me like a timed bomb: I could not perform any physical effort, I was not to be exhausted in any way, on a daily basis. I was to have plenty of rest and have a “sheltered” life, as far as they can control it. Some of the things they did to keep me healthy, I am forgetting now, perhaps.
But I do remember vividly how strongly I hated apples. And how strongly I hate the sight of them to this day.
I remember overhearing my dad speaking on the phone to my mom, who was at work. All I remember was dad crying and saying “Oh, my God. What a life will she have? No life. No life at all. No joy. No kids. No vices. If she ever makes it that far”. Because they just drew blood from me, I figured it was about me, but I didn’t know what just happened. I remember I was in an armchair, writing, I don’t remember what. And overhearing this.
At that time, it didn’t mean much to me. I didn’t even realize that … I was sick. I was just a kid and wanted to do all the things that kids do. Little did I know, my life would not be anything like a kid’s life from that point on!
It happened in PE class. I remember that, too. They made us run laps around the track, at school, in second grade. And that was the first strenuous physical activity I performed. And while running, with all the other kids, I collapsed, bending myself in two, and screaming that the right side of my stomach hurt. The teacher thought I was faking it, and asked me to stand up and keep running. I could not. She gave up and called mom. She told mom I collapsed in tears, and I refused to get up, so she thinks this time I was maybe not looking for excuses to get out of the class. I was never a sportsy kid!
Mom sat me down and asked me to tell her the truth. She always told us “we can lie to whomever else, but not to our parents. They always need to know the truth, so they can help us”. And I did. Tell her the truth, that is. I told her that when I run, my right side hurts, right under my ribs. She said: “That’s your liver”. I didn’t know what that meant, but I was glad she believed me, because it really did hurt.
Long story short: she took me for an appointment with my godmother, who is a pediatrician. My godmother said that the liver usually never hurts (we have no nerves in our liver), but it does hurt if it’s enlarged. And my liver was enlarged. She asked mom if we have any history of liver disease in our family, or liver metabolism disorders, and mom said yes: my dad’s family has high cholesterol – which is a metabolism disorder of the liver, basically. So, my godmother ordered a complete liver panel and a complete lipid panel (i.e. cholesterol and triglycerides).
Mom works as a biochemist specialist in a hospital lab, so she took me in her lab, had my blood drawn and did the tests herself. When it was time to measure my cholesterol, the machine that she used flipped! It could not measure a value that high. She did some complicated dilutions of my blood (remember, this was Romania – 1983! So technology was scarce!), and she came up with my total cholesterol of 734 mg/dl. She looked up the “patient” (I was just a number, on a vial), and she realized that was me, her daughter. She almost fainted! She called dad, and that’s what I overheard him say to her – his reaction to the findings.
As you can tell from comparing my level to the normal levels of cholesterol , my values were extremely, dangerously high. But what was more severe than that was the facts that: 1. They were the highest in my family’s history (their levels were in the 400’s) and 2. There was nothing known to the Romanian medical world at the time that could handle this disease, much less “cure” it.
After this finding, I went through many, many long years of seeing various doctors, and trying out various treatments with no significant change in my cholesterol levels. My medical charts that I still keep show my first blood tests as this:
Total Cholesterol: 734 mg/dl
HDL Cholesterol: 88 mg/dl
LDL Cholesterol: 525 mg/dl
I don’t see a value for triglycerides for that first checkup. But my triglycerides have always been normal. And one thing they always tell you is that triglycerides are the only lipids that cannot be (or very rarely be?!) inherited. They are usually a mirror of your lifestyle – usually, that’s how your doctor knows where your cholesterol comes from: if your triglycerides are off, that means your lifestyle is to blame! If only your cholesterol (and particularly your LDL) is off, than it’s either your lifestyle or your genetic makeup. For me, it was obviously, my genes.
The first things they tried was diet! A lot of diet. Nowadays, living in The States, I am overwhelmed by how many diets people try just to stay slim. I have never been overweight. Ever. But I tried everything, just to stay alive – according to my parents, and my doctors at the time.
In terms of dieting, they took all protein away from me: all animal products, meats, eggs, milk, cheeses – I was not to eat any of these. I was not allowed to eat anything fried, and not many carbs, either, as it was believed that carbs and sugars turned into cholesterol, as well. So, basically, I was going to eat just salad (or “grass”, as mom called it), carrots, and apples. And that was pretty much it, for a while.
It was also believed at that time, that 2 lbs of apples a day (1 kilo) would lower cholesterol, so my family made me eat that many apples every single day for a while. I cried and ate them, because they would not let me leave the table till I did. My cholesterol was still high.
I will make all the drug therapies I have been through over the years the subject of another blog, but in the beginning, all I was treated with was a very strict diet, and cholestyramine (http://en.wikipedia.org/wiki/Cholestyramine ). This drug was evil, like many drugs henceforth. It gave me indigestion, gas, and made me throw up every time I took it.
Now, just picture this, if you would: you are 8. All your friends eat chocolate, cake and fries, and your sister, and your family eat chicken for dinner, or steak and fries every night. And I have to eat boiled food (oil fried anything was a big no-no!), with no taste (salt was believed to be bad for me, too), ‘grass’ (as in lettuce), tomatoes, and 2 lbs of apples a day, AND … take this powdery thing three times a day, to make my cholesterol low. I felt fine, unless I ran, and then the right side of my stomach would hurt. But I was forced to be on this regimen “for the rest of my life” and I didn’t quiter get it.
For a couple of years, I managed to keep this strict diet, with the help of my entire family. I saw more doctors as a child than anyone needs to see in a lifetime. Every doctor came up with another drug recommendation, but every doctor admitted that it was a shot in the dark – there was nothing on the market at the time that could tame such high levels.
The specialist I saw in Bucharest diagnosed me as a homozygous dyslipidemia patient – which is, to this day, the hardest to handle. He said there was one other kid, my age, in the whole country that had the same disorder as me, and usually this happens every once in a million people. I felt pretty special, as you can imagine!
Like I have said, I can’t remember ever feeling “bad” at that time, other than always running out of steam faster than all other kids my age. But that was OK for me – I liked books better than bikes anyway! I do remember my parents’ lectures: “You’ll never get married. You can’t have any kids. You will never smoke or drink alcohol or coffee.” In the meantime, my paternal grandfather, who had the same disease as me and my dad, had a massive second stroke, at the age of 50, which left him paralyzed and bed ridden. My parents always told me I will end up like him, only sooner, probably, because my levels were so much higher.
Even back then, everyone knew there was a connection between high cholesterol and thickening of the arteries, which could lead to heart attacks, strokes, or just malfunctions of all major organs. There was no known drug to cure this, and no known successful therapy for levels such as mine, but the complications of such a condition were believed to be pretty de-habilitating.
I know that after a couple of years, and no genuine progress from any doctor’s recommendations, my mom gave up on the diet. She noticed that I was not developing at a “normal” pace, compared to my girl friends. So, she decided that since she wanted me to “grow” and since this disease is inherited, so it’s encoded in my genes, no “lifestyle changes” could make a difference, so she put me back to chicken and potatoes and no apples when I was 10 or so.
I still seldom ate anything fried (except for fish), and I she tried to keep me away from milk, eggs, and red meat (beef and pork). To this day, I still feel queasy about beef, and rarely have it, and I absolutely hate milk products. I can eat cheese if it’s mixed into and cooked in foods, and I absolutely hate apples! But apart from that “weird diet” … I can tell you that I have had a normal childhood, and a pretty normal life, as a teen and young adult. I knew my disease was something I have to live with, and make friends with. I made it my lifestyle, and we became good pals! And never felt like I was missing out on life. I couldn’t! I was always determined that I should have as normal of a life as I could muster. And my parents helped a lot to insure than, even when all the specialists of the world failed us!
My total cholesterol levels from 1983 till 1998 (when I moved to The States and another approach to my therapy started) wandered anywhere between 525 and 609 mg/dl. As you can tell, with the normal levels being around 240, I was way off mark!
Like I have mentioned, all the drug therapies I had tried during this time will be the subject of another entry – and all the other approaches they took to “figure me out”. But for now, my family was in a state of shock, at first, and later of educated ignorance about what my diet should be – because diet was the main thing that was triggered, really. And they have always treated me like a timed bomb: I could not perform any physical effort, I was not to be exhausted in any way, on a daily basis. I was to have plenty of rest and have a “sheltered” life, as far as they can control it. Some of the things they did to keep me healthy, I am forgetting now, perhaps.
But I do remember vividly how strongly I hated apples. And how strongly I hate the sight of them to this day.
Tuesday, February 22, 2011
Normal Cholesterol Levels
According to the American Heart Association (AHA), these are the recommended levels of cholesterol and triglycerides and what they mean for your heart health:
(click on this picture for a larger view)
For specific definitions of what cholesterol and what triglycerides are and how they are different from one another, you may choose to just do a Google search (there are many available definitions online, from various sources), or follow these links:
Cholesterol
and
Triglycerides
(click on this picture for a larger view)
For specific definitions of what cholesterol and what triglycerides are and how they are different from one another, you may choose to just do a Google search (there are many available definitions online, from various sources), or follow these links:
Cholesterol
and
Triglycerides
Sunday, February 20, 2011
Welcome
Thank you for stopping by on LivingWithFH.blogspot.com. I intend to keep this blog updated with notes on my personal journey into living with familial hypercholesterolemia. The blog will provide my first hand report on what this disease can bring about, what the doctors tell me, and how life is different, in my case. Although other sufferers of hypercholesterolemia might find helpful information on this blog, it addresses only the familial, or the inherited kind.
I also would like to keep the blog updated with links to researches that are constantly being done on cholesterol, atherosclerosis, and heart disease, new findings in this disorder, as well as other support forums (chat rooms, other blogs, etc) for people like me. I have been looking for a place that offers all this, and there are not many.
I also encourage you, the reader, to post comments, questions, and your own links to what you find on this topic. Due to unwelcome spam and other unwanted traffic, I will need to approve all the comments, but please post them nonetheless.
In the first few blogs, I will talk mostly about my history, how the disease was diagnosed, when I was 8, what my cholesterol levels were at the time, and how I managed it during the following 17 years while living in Romania. The drugs but mostly the research were scarce there, and every doctor visit was a disappointment – there was no hope.
Once I moved to The States, the roller-coaster of trying any drug therapy known to the medical world began. In a lot of ways it was a blessing, and in a lot others, a curse, as well.
As the name of the disease suggests, this is a “familial”, or “inherited”, or “genetic” disorder. In this particular case, lifestyle choices have little to no effect on how the cholesterol level and its consequences behave. And because it is genetic, there is no cure for it. So, whatever treatment you’re on, it will have to last for as long as you live. I will address all these statements in the blogs to come. There are controversies in the patient world that suggest that heredity has little to do with how this disease behaves. I will give you my own account.
I will get more into the details of what the cholesterol levels mean in the following posts, but just for this brief intro: according to the American Heart Association, the “desirable level of total cholesterol should be up to 200 mg/dl. My total cholesterol was over 700 mg/dl when I was 8. It is over 300 mg/dl when this blog was started in 2011.
Because of progress in research, a new kind of medication has been good for me, the PCSK9 drugs, and that has brought my numbers down to 198 mg/dl, when used in conjunction with statins and zetia.
I found out in 2017 (36 years after the first diagnosis) that I have HoFH, the more rare and more severe type of FH. Up to that point, the information you find here will be on FH, generally. From that point on, I have included my journey with HoFH here, given the new diagnosis and I am following some of the research and resources available for this specific type of FH, as well.
But despite all the grim blood test results, and all the prognoses that a heart attack or a stroke might be around the corner, in months, not years, I have managed to live for almost 36 years free of any major coronary or brain events.
It has been a journey of hope, a celebration of life, and a lesson in self knowledge, as well. It’s been a trip that has made me, in a way, the person I am today – there is not one day in my life that my condition is not on my mind, and yet, I believe I have had a full and “normal” life, in many wonderful ways.
I thank you all, in advance, for your presence here, and I encourage you to please send me all your thoughts, ideas, suggestions on how I can improve this site, over time. As I tell my doctors: I am in this for the long haul.
I also would like to keep the blog updated with links to researches that are constantly being done on cholesterol, atherosclerosis, and heart disease, new findings in this disorder, as well as other support forums (chat rooms, other blogs, etc) for people like me. I have been looking for a place that offers all this, and there are not many.
I also encourage you, the reader, to post comments, questions, and your own links to what you find on this topic. Due to unwelcome spam and other unwanted traffic, I will need to approve all the comments, but please post them nonetheless.
In the first few blogs, I will talk mostly about my history, how the disease was diagnosed, when I was 8, what my cholesterol levels were at the time, and how I managed it during the following 17 years while living in Romania. The drugs but mostly the research were scarce there, and every doctor visit was a disappointment – there was no hope.
Once I moved to The States, the roller-coaster of trying any drug therapy known to the medical world began. In a lot of ways it was a blessing, and in a lot others, a curse, as well.
As the name of the disease suggests, this is a “familial”, or “inherited”, or “genetic” disorder. In this particular case, lifestyle choices have little to no effect on how the cholesterol level and its consequences behave. And because it is genetic, there is no cure for it. So, whatever treatment you’re on, it will have to last for as long as you live. I will address all these statements in the blogs to come. There are controversies in the patient world that suggest that heredity has little to do with how this disease behaves. I will give you my own account.
I will get more into the details of what the cholesterol levels mean in the following posts, but just for this brief intro: according to the American Heart Association, the “desirable level of total cholesterol should be up to 200 mg/dl. My total cholesterol was over 700 mg/dl when I was 8. It is over 300 mg/dl when this blog was started in 2011.
Because of progress in research, a new kind of medication has been good for me, the PCSK9 drugs, and that has brought my numbers down to 198 mg/dl, when used in conjunction with statins and zetia.
I found out in 2017 (36 years after the first diagnosis) that I have HoFH, the more rare and more severe type of FH. Up to that point, the information you find here will be on FH, generally. From that point on, I have included my journey with HoFH here, given the new diagnosis and I am following some of the research and resources available for this specific type of FH, as well.
But despite all the grim blood test results, and all the prognoses that a heart attack or a stroke might be around the corner, in months, not years, I have managed to live for almost 36 years free of any major coronary or brain events.
It has been a journey of hope, a celebration of life, and a lesson in self knowledge, as well. It’s been a trip that has made me, in a way, the person I am today – there is not one day in my life that my condition is not on my mind, and yet, I believe I have had a full and “normal” life, in many wonderful ways.
I thank you all, in advance, for your presence here, and I encourage you to please send me all your thoughts, ideas, suggestions on how I can improve this site, over time. As I tell my doctors: I am in this for the long haul.
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