In a way, I am immune to it. In another, I feel lucky that people cared enough, and worried enough about me to investigate, and this way I have a clearer, perhaps more in depth understanding of what’s going on.
I have thought long and hard about how to list all the things that have been found over the years, and also all the tests that revealed them. If anyone finds this blog interesting, I would like them to have an example of what such a patient goes through – maybe they can relate to symptoms but their doctor is not recommending some of these things, and maybe they can inquire their own doctors about the need for them to investigate?!
So, I apologize in advance if this is boring … but I really didn’t know how to list them all. I hope it is, however, helpful. And, as always – thank you for reading.
I will eliminate the pointing out of the actual years in which these diagnoses were pronounced, and this will make it less intrinsically personal, but I will try to keep the rest.
Initially, my disease was pronounced as familial dyslipidemia. Because all my lipid levels were high, they figured all my fat fractions are affected. With diet, however, my triglycerides went to normal, and only my cholesterol ( total and LDL ) remained high – which “switched” the disease to familial hypercholesterolemia (FH). And that is an interesting point: if you have normal triglycerides, that is your cue that your diet, and your lifestyle is OK. Triglycerides, I was told, are seldom inherited as very high. I have not checked into this on my own, however, as I have had them normal for most of my life.
Amongst the various doctors I have seen, most of which were internists and cardiologists, I have also been recommended to endocrinologists – they believed that somehow, my incredibly high values were due to some hormonal imbalance – especially when I was in puberty – and they tried to give me hormones to “balance me out”. I am grateful to my mom, because she didn’t take that for the final answer, and asked to see an internist who gave us a second opinion that this was not in any way a hormone related disease. I have never been on hormone therapy for this.
My "aftermath" of the eye lipoma: I had this removed (burnt with acid) more than 10 years ago, and a small fraction of it is still very faintly visible on my eyelid.
One of the side effects of FH is the visible lipomas that grow on your body, which I have had to have removed a couple of times so far. They are basically benign cholesterol deposits that could grow to various sizes, under your skin, or deeper, and they could be anywhere from the size of a needle point to the size of a baseball. I have had one removed from my elbow, another one (smaller) from my eyelid, and now, I am growing one which feels like the size of a golf ball, on my neck. I am debating whether to have that remove in the near future or to wait till it gets bigger – which I am sure it will happen. This last one, on my neck grew in the past 8-9 years quite considerably. It was not bigger than a penny in diameter in the beginning, and now, it’s quite bothersome, not to mention not very esthetically pleasing. Good thing I have long hair which, for now, can cover it.
My scar from my elbow surgery, where I had a lipoma removed - about 10 stitches
The massive "bump" on my neck, under my thick, black hair - the lipoma that might have to come out, surgically, soon.
Now, to the more interesting bits! The heart disease. I have several manifestations of heart and cardio vascular disease. Since I was 16, they have known I have an “undefined” aortic valve. Now, they have called more properly as a weakened or leaking aortic valve, coupled with a hardened wall of my lower left chamber of the heart (left ventricle). I have several deposits of cholesterol, which are estimated to close various vessels inside of my heart’s left hand side in a percentage of anywhere between 30 and 60%. They assume that the aortic valve and the hardened wall are results of years of living with high cholesterol, where the heart tried extra strongly to pump the blood, all this time with thickened blood vessel walls and thicker blood.
The other symptoms of the diagnosed heart disease are higher, arrhythmic pulse, high blood pressure, chest pains, shortness of breath during exertion, or sometimes even at rest, and the fact that nitroglycerin makes the chest pains go away, practically. A “fun” note on that: when you travel with nitroglycerin, like I do, you sometimes get questioned by the TSA staff whether you’re on such a drug! Just admit it – they can see the pills inside the Xray machine, because nitroglycerine, an explosive, of course, shines bright green on the security cameras.
A nice man in an airport once told me to remove them from the bag, because the Xray machine actually weakens the strength in the pills. I almost always forget I have them in there, however … You will need a new prescription for these at least every 6 months! And once you know they work, you go everywhere with them.
Also a result of vascular disease are my migraines. I have high cholesterol deposits that narrow my blood vessels in my neck – my carotid artery most precisely – by 40-60%. Consequently, my brain is not irrigated properly, and I get severe headaches from the lack of oxygen. I am not on any prescription medicine for headaches – I just take the OTC Excedrin and it seems, so far, to be the only one that does the trick on them.
As you well know, the more severe diagnoses of all these are heart attacks and strokes. And I am prone to both, at this point in my life. I have been often told that I am just a walking timed bomb, because the pictures and the symptoms show a very advanced disease, even at my “young” 36 years of age.
As I might have mentioned before, heart attacks are not common in my family, even on the side that brought along FH! Strokes, however, are very common! From mild ones to debilitating ones that render one bed ridden, or dead. And I would say that when I look at myself, my migraines and headaches are far more often and common than the chest pains or the shortness of breath.
Among the tests I did for my heart, there were: EKG (which I do every year, almost like a physical), Echo - cardiogram, ultrasound of the heart, sound Doppler of the peripheral arteries of my legs, ultrasound of my carotid arteries (I have done these every 2 years for the past 6 years), a nuclear stress test (twice in the past 6 years), I have had a holter monitor attached to me for 24 hours to monitor the activity of my heart and I have had one angiogram, at the age of 30. I also had an MRI of the back of my neck, to determine whether my “growth” was malignant – and it was determined as a lipoma, which is by definition benign.
Although they did find cholesterol deposits and plaque in vital arteries of my body (aorta and carotid, for two), they have not yet decided to do anything invasive for them, other than to repeat the tests, watch my symptoms closely and kind of keep an eye on everything. Because of my age, they don’t want to do anything too drastic yet – there is a long road of “recuperation” (read: “maintenance”) and even more thorough investigations not to mention more medications to take if a stint or a balloon would be placed in any of my vital points! They basically said, “if you’re dealing with a 70 year old patient that has 20-30 years to live, that road is not that long or that bad, but I am dealing with a 30 year old patient, so the road is a lot longer, and I am not sure the body can take that”. So, they’re letting the body progress at its natural step, while I am keeping an eye on medications, diet and a healthy lifestyle.
Also, I have managed to keep a close to normal life – I have always worked full time, and I have managed to keep pretty busy even outside of work. My heart showed in the stress test that it’s pumping at 80 - 90% of its capacity, even with exertion, which is pretty good! I am not able to run, or do more strenuous exercises, but I walk, and hike, when the weather allows, and I used to do yoga for years, regularly – more about my exercise routines in a future post.
So, right now, all I do is keep in very close touch with my cardiologist and stay on the medication and diet I have been following for years. I also check my cholesterol and liver panels every 3 months and I see my regular doctor twice a year.
Another test I was fortunate enough to get for free (when you’re a Guinea pig, you know, they give stuff to you) was a Berkley test . Berkley analyzes cholesterol and blood proteins (which can attach to cholesterol particles) apparently like no other lab – they break it down to very minute fractions and determine which ones of those fractions are the “troubled” ones. The lipoprotein “little a” was suspected to be high for me – but they found out that it is not, in fact. What they did find with this test was that I have low Vitamin D, which is lately believed to help with heart health, among having other many benefits in other health areas.
I was seeing a pharmacist specializing in lipid disorders, who worked with my former cardiologist’s office in Greensboro, NC when I was recommended for this test. You can inquire your (regular) doctor about this test, though. I don’t think all labs do it, but in NC, most of them had access to the test, although it had to be processed elsewhere. Another great thing that comes with it is that for 60 days you get a free consultation with a Berkley lab assistant that can look at your particular lipid profile and your own lifestyle and suggest adjustments – they will call you about once a month to keep in touch and will go over your progress with you and your numbers, your symptoms, etc. They are extremely professional and very responsive, which is somewhat hard to find in this profession anymore.
My disease has had a significant role in the decision I have made a long time ago to not have any children. I simply cannot conceive bringing them into this world with this disease, or even putting my body through the extra effort of child birth, when it already feels so abused! I am not considering myself too chicken, or too selfish – on the contrary, I think I am more responsible, if anything – if I were to justify my choice, which I have very often have had to do. But other than this, as I have said, I think I have managed to have a pretty “normal” life so far.
This disease is part of me, and part of my daily routine, now. I don’t and I have never hated it! In many ways, I consider it a blessing, an opportunity to respect life more, and health even mucher. It has made me more aware of my body, and of what goes in it. More aware of people’s frailties, even when the outward demeanor is not telling.
The last stop in my test-diagnoses extravaganza is the LDL aphaeresis . About four months ago, my new cardiologist, in UT, recommended it –which was not news to me. I have been told about this for a very long time, just like I have also been suggested that a liver transplant would be a more permanent answer for my condition. Unlike any other doctor I have seen before, my UT cardio doctor gave me about 3 months to research and seriously think about this procedure, and then come back with an answer but not to just come back and say “I don’t want to do it, because I don’t want to do it”. He needed a more informed decision.
I don’t want to do it, for many personal reasons: I don’t want to do it because I can’t see myself (yet!) committing my life to a hospital room several times a week or even a month for years for a blood dialysis! I can’t see myself worrying about the side effects and the weakness when it happens. I want to live – that has always been my motto – and not just to exist! And, for the most part, I feel good. I have managed to keep my cholesterol relatively down (for me!) for years, and I am mobile! I can do what I want to do, when I want to do it. There is something to be said for freedom.
Plus, I am more fortunate than most, because drugs (and all the other life adjustments) do work for me. Some. Sure, my levels have never been normal and the toll this is taking on my body is nothing to sneeze at! But coming from 790 mg/dl of total cholesterol to the 300 mg/dl range is progress! And so far I am happy with it! I have read about patients that have been opting for aphaeresis and they have come to that as a last resort when nothing else worked for them and the quality of their lives was compromised. I am thinking that my case is not there yet.
As I have said many times before in this blog – all these are personal decisions and observations! In no way do I “recommend” my choices and lifestyle to anyone in the world! Just remember – I share but do not give. So, please just use this as a peek into my life and not as a guide into your own. Make your own decisions! Listen to your doctors! Read! Keep updated! Join a support group – of which there were almost none till very recently! But don’t ever stop trying to understand this on your own, personal, terms. Understanding it, and knowing the most you can know about FH and about your own body and keeping up with the ever changing science is power. Tap into that and you will survive.
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