Who Knows More About FH? You? Or Your Doctor?

How knowledgeable is your specialist, truly, about your FH? Whether it’s a lipidologist, endocrinologist, cardiologist – how familiar are they with the disease, the treatment plans, as well as what’s new in the research of new treatments, if they are in charge of treating your FH?! That is one important question you should always ask about your medical staff, but even more important about FH, since for so many centuries it’s been an underdiagnosed and undiagnosed disease.

We usually want the best doctors, the ones that can get our specific cases, and not treat us like textbook examples. We all want doctors that are not only familiar with our specific conditions but who are also knowledgeable about the different avenues for treatment. We want them to customize those avenues for us.

With a disease like FH, we still get, for the most part, a lot of medical specialists who are underprepared and unaware. We all needed, at some point or another, to coach our doctors and our medical personnel. I am not usually one for generalizations, but I am fairly sure that when I say “all”, this is certain to be the truth: people with FH (of any kind and this includes people with LP(a) deficiency) are still in the business in educating the one who should educate.

I have been at this since I was 8. I am 46 now. I have had (fortunately) a relatively long go with Homozygous FH and I have seen many types of doctors in my days. Now, since FH is gaining a fair amount of attention, since it’s no longer so much a “shruggable”, as I call it, disease, since many drugs have been made available on the market, I do find, once in a while, a doctor that gets it.

I lived in a different (much smaller and less populated) state till 4 years ago and even there, I had a cardiologist who specialized not only in the treatment of lipids, but in that of FH. He was the head of the clinical study for the PCSK9 inhibiting drugs for the entire state. He always bugged me to get on this trial and the other because he hated my LDL levels which were very high at that time and were damaging my heart progressively. I always knew what’s in the market, what’s in the research phase from him.

When I moved to my new (much bigger and with a well-known tradition for excellent medicine) state, I felt sure I had hit the jackpot. I was so sure I reached a place where access to good, informed doctors is ubiquitous. I was sure that once I get into this one medical system that is renowned not only for breakthrough treatments but also for massive amounts of research, I’d be able to be informed about the next available, most recent drug to manage my FH. I found out that FH specialists don’t really grow on trees, even in a larger state with a more developed medical tradition, but I did try to go to the one of the few people known in the community here for being successful in managing lipids and heart disease.

In my experience, a good cardiologist also has a good understanding of lipids and of FH. I thought, till today, that I found one. The cardiologist I have found here has managed my heart fairly well, and my LDL is lowest that’s ever been (http://livingwithfh.blogspot.com/2016/07/my-current-cholesterol-numbers.html).

Here’s how I ensured I am with the right person in the right medical facility:

• The medical facility I chose (in my new state there are lots of very good options) is one of the top rated in the country. Without naming it, think of the likes of The Mayo Clinic, Johns Hopkins, Emory or Cleveland Clinic.
• I researched online and the name of my current doctor (let’s call him Jon Doe) came up as the one with the most positive reviews from patients – remarkable for managing very rare or hard to treat conditions.
• One of my pharmaceutical rep friends who at the time specialized in FH drugs recommended him to me as being “the guy (at this medical facility) who gets it”  - meaning, he gets cholesterol, and he gets lipids.
• I asked my primary care doctor for a good cardiologist who manages lipids – she recommended the same Jon Doe without me ever mentioning his name which I had learned from the other sources.
• When I googled him, I pulled up an Youtube video where Dr. Jon Doe and another doctor discussed the results of a study they had just ended and whose findings had showed the importance of combination cholesterol-lowering therapy in the treatment of acute coronary disease.
• Recently, I went to see a lipidologist in the area who is renowned for his work with FH patients as well and who is not part of this medical system I wanted to be in. He asked me who am I seeing for my FH and I said: Jon Doe at (this facility). He said there are only two people in this medical system that do lipids well and specifically know how to manage FH, and that my Jon Doe was one of those two.

I was fairly certain I had my guy! Over the years I got reassurance after reassurance that I am in the right spot.

When Nexletol (bempedoic acid) came on the market, he came to me to tell me there is no wiggle room whatsoever, I need to be on this new drug to improve my LDL which at the time was hanging around 190 mg/dl. He knew about it (so did I), so I was happy that he paid attention to research. What’s more, he already knew I would not take something that is not approved, and he ensured me this is approved and I must be on it. I had good results in lowering my LDL and somewhat minimal side-effects with Nexletol, so again, I valued his opinion.  

I thought I did my due diligence. I was sure I was in the right place, with the right person. But life will teach you that there is really no such thing as a true know-it-all.

Today, I went in for my regular 3 month appointment and the conversation went something like this:

Me: Dr. Doe, what are your thoughts on Evkeeza?

Doctor: On what?

Me: Evkeeza. The new LDL-lowering drug for Homozygous FH?

Doctor: No idea what you’re talking about!

(my jaw dropped)

Doctor: Is this another PCSK9 inhibitor kinda drug?

Me (jaw still dropped): No, it’s an ANGPTL-3 inhibitor kinda drug.

Doctor: Is this an mRNA kinda drug?

Me: No, the mechanism is inhibiting the ANGPTL-3 protein, I believe.

Doctor: Nope. Doesn’t ring a bell.

Me (insisting): It’s an infusion. You get it in your vein once a month through an IV? So, I was wondering if you all will have a site for this kind of treatment soon.

Doctor (shrugged): No idea. Never heard of it. I guess I have to do some homework, don’t I? I definitely have no idea whether we’ll be a site for it or not, ‘cause I don’t know what it is.

Now, if this is not daunting to you, let me give you a little perspective:

• I am not a medical professional (I work in software). I am an HoFH patient and I found out about this drug when it was in early research stages from my pharmaceutical rep friend, but mostly from just having a google search saved for “Familial Hypercholesterolemia” that sends results to my email every time google finds anything in the news, or on any sites about the disease. The drug is made by the same company that makes Praluent which is a drug that made  a whole world a difference for me. I found out about this in early 2019, I think, but it could very well have been late 2018 or earlier?! At any rate: at least 2 years ago.
• In the fall of 2019, I went to the FH Foundation Summit in Atlanta and Evinacumab (then, or Evkeeza, now) had a table there (like many other drugs from different companies that were there) presenting the drug. I also met a person with HoFH that was at that time in the clinical trial for Evkeeza. I do want to commend The FH Foundation (https://thefhfoundation.org/) for having a top-notch site, full of valuable, up-to-date information for us, so if you don’t know where to start when you’re diagnosed with FH, I recommend their site wholeheartedly. Here’s their announcement for when Evkeeza was approved earlier this year: https://thefhfoundation.org/new-drug-for-hofh-approved-by-the-fda .
• This year, I have learned of at least one other person who is already on it. The drug has been talked about extensively in all the FH Facebook groups I am part of.

And yet my big-shot guy who is supposed to be “the guy who gets it” for lipids and FH from this big-shot, world-renowned medical system, has never heard of it. Now, I understand that you might not know the specifics yet, because it’s new, and there is a special process to administer the drug, to approve it, etc. But as a lipid specialist, not to even be aware of the research in this field is a bit of a let-down? When your medical system is one of the most research-oriented and breakthrough organizations on the planet? That is giving me pause.

I am writing all this especially for those of you who are new to FH. This is the reality of FH, still: we are still in the business of being our own advocates and still in the business of educating the doctors we see. I know some people look at doctors as the person with the knowledge, they never should be challenged, they never should be questioned. Because of FH, its obscurity, and famous “invisibility”, I have learned the hard way that I need to speak up; that I need to challenge; that I need to push. if you will, my medical staff to find solutions for me. They have the tools to do it, but sometimes they might not have the interest, or the time, the bandwidth, and maybe not the vast pool of patients to be prepared for all the answers I need them to give me. So, we need to do the educating if we want good and stable care.

My hope is that you don’t lose hope – this is more of the norm when it comes to FH. This is the reason why people like me (as an individual with FH) and organizations like The FH Foundation do what we do: to educate patients as much as to educate medical professionals. To shed light on this very obscure (still!) to some, but not always very rare disease which is one of the most common if not the most common risk factors for heart disease – the number one killer of all of us.

Much health to everyone, and keep curious. Keep informed. Never stop researching! And never stop sharing. The power we all have is in learning, sharing, and teaching others. We’ll all have longer, fuller lives if we keep at it.

A Visit to the Lipidologist

It’s pretty unusual that I have had a rare lipid disorder all my life and although I have had more doctors and specialists than I can count, none of them was technically a lipidologist. I have seen cardiologists, endocrinologists, cardiac surgeons, vascular specialists and vascular surgeons who could manage lipids, but never a lipidologist.

Because I am constantly trying to learn more about my specific type of HoFH and because I have some concerns that some people on my current heart team have some gaps in understanding the risk factors for cardiovascular disease when it comes to FH, I wanted to get an expert’s opinion about my case and to confirm that the plan of action we have is appropriate.

The new doctor was a great combination of informed-aware-familiar-with-FH, as well as empathetic and down-to-earth. I felt like he listened, he followed my history closely, and he gave me his opinion about things I have tried in the past, things I am doing now, and painted a tentative picture of what he thinks my future might hold, if one can get so close as to predict that.

To make a very long (the appointment took two whole hours! Longer with new blood tests.) story short, these are some of the learnings from this visit:

• He agrees that given my cardiovascular history and the fact that I still have progressing disease (in the form of increasing stenosis) at least in one area of my arterial system (abdominal aorta), I need to do more to lower my LDL number as well as my apolipoprotein B number (which goes hand-in-hand with the LDL number). Lowering the numbers to the lowest possible for me (we’re shooting for under 70 mg/dl for the LDL) should hopefully stop the progression of atherosclerosis. He very clearly said he is in the business of “preventing and diffusing the bomb” and not in the business of “cleaning up the mess” after the bomb (usually a heart attack or a stroke) has gone off - which sometimes is the business cardiologists and vascular specialists are in. He advised to rather not wait for new symptoms be them in my heart or carotids, or abdominal aorta, but to be proactive about bringing my LDL (currently 125 mg/dl) down more. My vascular specialist believes that we need to wait for an abdominal aneurysm or inability to eat before we can address the stenosis in the abdominal aorta.
• He thinks I am on the right combination of drugs at this point in time. He thinks I am on everything that is on the market and successful for HoFH and as a bonus, I seem to respond well to this cocktail (Lipitor, Zetia, Praluent, Nexletol). He would add Juxtapid, which I have denied accepting due to severe side effects (https://en.wikipedia.org/wiki/Lomitapide) and possibly a new drug that’s coming out of Regeneron, approved earlier this year (https://www.evkeezahcp.com/). We'll wait to see about this last one for a bit, because no one seems to know what the process for administering it and approving it seems to be right now.
• He explained that I am somewhat of an anomaly:
• According to the genetic test I had done, I have a pair of the same exact bad gene to account for my HoFH (https://livingwithfh.blogspot.com/2017/08/the-long-journey-to-hofh.html) . He said more common, you see two bad genes that are different and both “bad”, but mine are two identical bad ones which makes me a “true homozygous as opposed to a complex heterozygous case.” Apparently my case is much rarer than the “one in 250,000 people” which is what the frequency of HoFH is estimated at.
• Because of this profile, I should not (research shows) respond as well to statins or any other medications as I do. It is strange/ unusual that I respond as well as I do, but obviously, this is my lucky card in the bad hand I drew at birth.
• He is puzzled as to why I don’t show a corneal arcus which is common for people with HoFH and with higher level of cholesterol (https://en.wikipedia.org/wiki/Arcus_senilis). I have never had one. He did find Achile’s tendon xanthomas and a xanthoma on my left eyelid which are on par with the manifestations of the disease.
• He explained the importance of the Lipoprotein (a) and apolipoprotein B in the cholesterol profile and his opinion is that these particles are as important as the level of LDL in understanding the cholesterol profile as well as the level of risk for cardiovascular disease. He repeated the tests to measure both – just to get a baseline. He advised that we should always measure the Lipoprotein (a) in nmol/ l instead of mg/dl, as the first unit of measure is more today’s standard. He did say some labs (the one my cardiologist has been using included) are slow to follow the new standard (nm/l) and the conversion (from mg/dl) doesn’t always work.
• He congratulated me for a lifetime of not smoking, saying that is one of the most common things people with heart disease do not understand: how dangerous smoking can be for CV disease. I told him that people in my own family with the disease don’t get it either.
• He is also concerned about the inflammation that I have in my body, which no one seems to correctly diagnose. We know there is inflammation but we don’t know what kind. The tests are inconclusive, but the symptoms (rashes, hives, joint pain) are indicative of it. He said whatever I do to keep inflammation down is a sure benefit for CVD. For this, I mainly watch what I eat, am on a vegan diet with just occasional cold-water wild fish.
• He ultimately did not change anything in my current regimen, but he underlined the importance of staying on top all the “vascular beds” (he called them) that show advanced disease (the heart, the carotids, the abdominal aorta, and the peripheral arteries in the legs). My cardiologist is monitoring the heart, legs, and carotids, and I am yet to find someone who can monitor my abdominal aorta which is stenotic.

The results of the tests he did when we visited came back a couple of days ago and the levels for the “other” lipids are both elevated:

• Lipoprotein (a) = 88 nm/l (it is normal up to 73nm/l)
• Apolipoprotein B = 134 mg/dl (it is normal up to 110 mg/dl, or up to 80 for people with additional risks for cardiovascular disease).

He admitted  that he expected at the very least that the apolipoprotein B to be elevated because that usually goes hand-in-hand with the levels of LDL and we already know that is elevated. It made me wonder if this is the reason why a regular doctor (like my PCP or cardiologist) never checks this fraction of cholesterol. The fact that my Lipoprotein(a) is also elevated adds yet another risk factor (in addition to elevated LDL) to my CVD. The drugs I am on should affect the numbers of the LDL and apolipoprotein (B), but there is no known therapy for lowering the Lipoprotein(a) yet. A regular doctor would never order these cholesterol fractions as a routine. I have had them checked before when someone suspected FH, but not as a routine blood check that you do when you have your physical once a year. From everything I have read and from what the lipidologist said, it is important to know the level of Lipoprotein (a) as this is a standalone risk factor for cardiovascular disease, just as important as elevated LDL which is something checked routinely.

As a conclusion – I did get some new learnings from this visit, even if it was just a new perspective and a new way to look at the numbers. I always strive to learn as much as I can from as many specialists as I have access to, to ensure I have the best possible plan of action in place. I have said it before and it is a platitude nowadays, but … knowledge is power. Not just the knowledge one can find on Google, but that of a person who dedicated their research and professional life to bettering the lives of people with a disease such as ours.

In the end, I made the decision to stay with the current cardiologist as it seemed that the course of action the lipidologist would follow would be identical to the one I am following now. Transferring the drug management which includes at least a couple of preapproval processes (for now, maybe more than two in the future) for drugs that I am on is a bit of a pain in the American medical system. My cardiologist has the preapproval process down to a science, and this offers some peace of mind, for sure. Of course, validating that he’s on the right track with the current regimen he’s had me on by comparing his course of action to that a lipidologist would follow, is also reassuring. With my heart history, I could never give up the cardiologist, either – so, this way, I feel like I get good care in both lipid and heart management.

I am still looking for a specialist who can monitor my progressing disease in my abdominal aorta. Even with lowered numbers (granted, not ideal), the stenosis seems to be advancing (https://livingwithfh.blogspot.com/2021/04/educating-doctors-visit-to-my-vascular.html) from one year to another. So, onward we go.

 

 

Beware of Unknown Tests and Bogus Charges

The “real” story is long and convoluted, as all medical stories are. But I will distill it to a simple recount: they did one test (MRI); they charged me for three.

I have several MRI/ ultrasound/ CT-scan/ doppler appointments a year to check for various things in various areas of my body: I get a heart echocardiogram (or ultrasound) once a year; a carotid ultrasound, a leg doppler and a stress test (sometimes a nuclear stress test) every two years, and now, more recently, an abdominal MRI (sometimes, ultrasound) every year. They are keeping an eye on various areas in my body that show arterial stenosis due to the built-up of plaque.

This new (and soon to be former – see: http://livingwithfh.blogspot.com/2021/04/educating-doctors-visit-to-my-vascular.html) vascular specialist doctor ordered an abdominal MRI with and without contrast. The day of the test, I checked with the technician that was supposed to do my actual test what exactly the test was – like I said this was a convoluted story and there was some iffiness from the doctor’s office about what test was actually ordered from the radiology department, but I knew that the one thing I was there for, the one thing the doctor and I agreed upon to watch, was my abdominal aorta. So, I was expecting an abdominal aorta MRI.

The radiology technician confirmed he was about to do an abdominal MRI with and without contrast. I was good.

And then, the results came a couple of days later in MyChart: the radiology department had apparently done the following tests that same day:

·       CARDIAC MRI HEART MORPHOLOGY AND FUNCTION W/ WO CONTRAST

·       CARDIAC MRA CHEST WITH AND WITHOUT CONTRAST

·       CARDIAC MRI ABDOMEN ANGIOGRAM WITH AND WITHOUT CONTRAST

I opened each of these tests in MyChart to look for the results of each one. They had copied and pasted the exact same results from clearly an abdominal MRI test: there was no mention of the heart, no mention of the chest arteries, no mention of the heart morphology – there were just mentions of the abdominal aorta, the renal aorta, the mesenteric, and iliac aortas. Also, I noticed that one of the tests said “cardiac MRI angiogram” and what I had was not an angiogram … And each of the three tests had identical – letter for letter – results. Obviously, they were not the same test (why the different names?), but they had the same findings. I was just a little bit upset, you can say.

I panicked, because I know that when the doctor says they did a test and it shows up in your MyChart Test Results section, the next place you’ll see them will be in your bill. I have done these tests enough to know they are never lower than a couple of thousands of dollars (usually more) each.

I approached the mix-up with the doctor who ordered the tests, and he insisted that all three of them had been done. I asked him to show me the results of all of them. He could not – he had the same results three times over, as did I, on my end, in MyChart. He insisted that the tests were done (although I told him time and again that I verified with the radiology tech about what test I was receiving and he did not say I was getting three tests), and that the radiology doctor sent the wrong results. The doctor contacted the radiology doctor after I left his office.

I was almost in tears, because by then I had received the bill which showed I owed roughly $12,000 – about $4000 for each of the three tests. I am lucky to have insurance, but I had not met my deductible and even after that, I was still responsible for a chunk of the cost. It also felt unfair that even the insurance should have to pay for tests I did not get nor that were needed at that time.

A couple of hours after I left the doctor’s office the doctor himself called me to apologize: he talked to the radiology doctor and they had made a mistake: they in fact confirmed what I said all along, that they had performed one test and that was the abdominal MRI without the angiogram part of it and that the other two should be taken out of my account.

A couple of days later, the head of the billing department called me with an apology to assure me that I will only be responsible for one test, an abdominal MRI, and that the other two will be taken out of my bill. I told them the bill was already sent to the insurance who paid their share and they assured me they will refund the money to the insurance and that the insurance overpaid (how many times does this happen: hospitals reimbursing insurance companies?!).

In the end, the final bill was for around $4000 for just one of the three tests, but I wonder how many times this slips and people are overcharged for what they did not get done. Especially for chronic patients, like us, who have a number of tests done every year. I know people who are not savvy enough to read their results online and see what they describe; they just trust what the doctor says and move on. They would have received the bill, shaken their heads that the darn medical system is way over-bloated (which still is) and would have paid.

Some lessons this has taught (or reminded) me (of):

• Always pay attention to the tests they recommend and try to understand what they are for and whether they are needed.
• Question multiple tests – are they for the same thing? Can one test cover the scope of all the multiple tests?
• Ask the doctor to explain whether you need an MRI or would an ultrasound (typically cheaper, but not as accurate as an MRI) be good enough? For areas that are larger (think a whole organ versus one small artery), ultrasounds are usually enough.
• Always read your results and try to make sense of them even if it is just to ask your doctor additional questions about your treatment plan.
• Look at your bill twice: does each charge verify and match your real experience. If not, call the doctor’s office first; remember that the insurance only bills for what they receive from the medical institution. Start with the doctors/ clinic/ hospital to understand why they told you one thing and sent the insurance something else.

In short, as always: stay alert and be your own advocate. Always.

Educating Doctors – A Visit to My Vascular “Specialist”

I find that for the most part, doctors are more and more knowledgeable and “educated” about Familial Hypercholesterolemia (FH). They seem to understand how it works, what to prescribe, what tests to perform, why keeping the cholesterol numbers down is important and what to expect the aftermath to be if they can’t keep those numbers low enough.

I am also pleasantly surprised when a doctor understands that age has nothing to do with this disease. I have lots of respect for doctors who understand that in cases of more severe FH (like the homozygous kind) you must be as aggressive as possible with what the medical world has to offer (drug therapy and interventions) as early in the life of the patient as possible to get ahead of the disease and ensure the patient does have a life ahead of them.

I love and have huge respect for doctors who have the courage to act before a so-called symptom kills you. Cardiovascular disease is one of the main complications from FH and with this disease a symptom can often be fatal. I have had the luck to work with doctors who had the courage to act before a symptom was too late for me … I am here today because of such doctors.

But then there is this other crowd of doctors who are not covered in the “for the most part” crowd. Doctors who are so disconnected from the patient in front of them and so stuck in the letter-of-the-book (not sure what else; I want to give them the benefit of the doubt that they have read a book and not just simply call them ignorant) that they got taught in probably an old medical school course book from 1970’s when the research was done all on a 60+ year old male population, or something. Such is my current (till now) vascular specialist.

A while back, my cardiologist decided to refer me to one of his colleagues (who happens to be a former resident of his) that specializes in vascular health to manage my vascular disease, while he can focus on my heart health and my cholesterol management. I didn’t oppose him because I felt like I did need better management of my else-where vascular disease that does not necessarily live in the heart and he already has his hands full with my heart and cholesterol. I have seen this new specialist three times. So far, he is vague at best when speaking about my disease and how he plans to “manage” it.

On my latest appointment last week, we had spent about 45 minutes talking about the various stenoses that I have in the abdominal arteries:

• the main aortic trunk is more than 50% blocked (if I really do the math it is about 75% blocked based on what the normal lumen’s area is considered for me: the narrowest dimension of the aorta measures 0.6 x 0.4 cm when it’s supposed to be 1.2 x 1.2 cm); the transcript of the latest MRA notes “severe atherosclerosis of the abdominal aorta”;
• there is significant stenosis at the origin of the celiac trunk of more than 75%;
• there is mild proximal stenosis in the superior mesenteric of 50%;
• there is mild stenosis at the ostium of the right renal artery (~50%).

The entire time we’re seeing each other, as he also has said in previous appointments, he says “you have lots of disease.” He acknowledges this, which is somewhat reassuring. But then there is the part where I say “what do we about this?” And he comes back with “nothing. We watch it.” He confesses that "they (meaning specialists like him) are not trained to manage stenosis, really, but only aneurysms," and I don't have an aneurysm yet. I am a little taken aback and nervous because it seems to me like waiting for an aneurysm to happen might be too late. I want to be ahead of this. His uncertainty about how to deal with my (what seems to me) advanced stenoses is not very comforting. 

He explains that his biggest worry is not the celiac, mesenteric, or renal arteries, but it is the aorta. I am “happy” to hear this because my heart surgeon who also saw these results agrees that that’s very tight. Now, I had an endarterectomy of my aortic arch when I had my open-heart surgery, and the ascending aorta was so severely diseased that they replaced it with a Bentall graft. Based on my history, I ask him if we don’t need to be more aggressive about addressing at least the aorta if nothing else. He says no, because “there is not as much action through the aorta in your abdomen as it is in your heart”. So, we wait, because the disease in your heart aorta does not compare with the one in the abdominal aorta, so the threshold should not compare either. I am circumspect, but …  

He also offers that even with a bigger blockage he will be reluctant to have me see a vascular surgeon because I am “too young to have this kind of intervention.” He continues that “we really need to wait for more symptoms before we act. If you stop eating because of pain and you lose weight, then we can think about intervention.”

At this point, I sorta lose it. For full disclosure, I do not seek surgeries for the sake of surgeries. But in the past surgeries seemed to be the only option to save my life. And these findings scare me more than another bypass or graft. All I keep thinking about is my surgeon describing the amount of disease in my ascending aorta that he had never seen before. I was 40 when I had my heart surgery.  So, I remind him that age has absolutely nothing to do with the amount of disease in my arteries. I remind him that I have FH. That I have Homozygous FH and for the first half of my life my cholesterol was 600 mg/dl! I also remind him that my cholesterol now, although normal by healthy people’s standards – finally, just in the past few months!) is by far not “normal” for someone with a history of FH, heart attack and cardiovascular disease. So the disease in my arteries will likely continue. I also remind him that I am aging which will make the arteries even more stiff. So, shouldn’t we be a little more mindful about my particular situation and forget about what some book says about when such a surgery would be appropriate?

He back-tracks a little and he nods “yeah, that’s all true, but we also have to consider the risks of surgery. You realize that they would have to sever that aorta and by pass it with another blood vessel?” And I just chuckle: “You obviously don’t remember or don’t understand what I had done to my heart five years ago, if you think this scares me.” I also tell him that I do not want to “wait till I can’t eat anymore and start losing weight”. That seems more than irresponsible to me.

And then we talk about blood pressure. Usually, this is something I manage with my cardiologist and he has been trying to stabilize it for over a year with no success. But after doing some reading on my own and after talking with my surgeon, there are indications that stenosis particularly in the renal arteries can cause hard-to-manage blood pressure. So, I run this by him. He says, and this is an exact quote: “Well, your vascular disease has nothing to do with your blood pressure. You have just a regular, garden-variety blood pressure which is probably OK.”

I am almost speechless, but I find my voice, just barely to ask him to explain this “garden-variety blood pressure” of which I have not heard before. And he says “well, just a blood pressure that normally comes with age. You and I are the same age, so we normally get a bit of an elevated blood pressure as we age. That’s all. Easily managed with drugs.”

I remind him that mine is not easily managed with drugs. I also say, defeated, but wanted to give him one last “education” if I could, if not for me, for those people who will likely and unfortunately come after me: “So, we just got done talking about my history of severe FH, heart disease, massive surgery for 99% blockages in all main branches of the heart, and a trashed aorta; we got done talking about my abdominal stenoses and how my aortic trunk is so tight that, in your words, ‘scares you’, and you don’t think any of these findings have absolutely anything to do with my blood pressure? You think what I have is a ‘garden-variety’ blood pressure?!”

He pauses as he realizes the corner he painted himself into and says: “Well, no. That’s probably true. Those are some good points. All the stenoses probably have something to do with it, yes. But let’s leave it to the cardiologist for now.” Which is all fine and dandy, but ... is he considering these points in outlining his plan or is he not? He seems to me like he is not sure ... 

I was shaking so badly, I didn’t feel like I had the strength to argue anymore. We said our good-byes, I made the next appointment and he agreed to move my “watching tests” to 6 months rather than space them out to a year.

I am reconsidering ever going back, truly. I didn’t feel for one second that he actually saw me. I never felt like he really understood the risk of FH, the status of the vascular disease I have or whether he had a plan for it all. It would feel irresponsible of me to place my life in his hands. So, I probably won’t. Not anymore.

I wrote this blog mostly to share that you will need to be alert to ensure you are indeed getting the best care. I am probably a little bit too far on the end of educating my doctors rather than looking at them as the absolute authority for truth when it comes to this disease, but that is mostly because I have spent my life in this body and I have lived with this disease, I have seen it act in people in my family – most of the time watching doctors shrugging and not knowing where to find the answers. If you have just been diagnosed, you probably don’t have this perspective, so what I can tell you is: stay alert. Read, inform yourself, and yes, educate your doctor if you need to. It’s all part of your care.

I also wrote this blog for those doctors, medical professionals, medical journal writers who have told me in the past that “no, doctors don’t speak like this!” when I would quote doctors with some off-the-cuff statement that would render me more lost than when I first came to their offices. And I am telling you – yes, they do speak like this. To be in front of a clearly demonstrated cardiac and cardiovascular patient and to diagnose them with “garden-variety blood pressure” takes guts. And some doctors obviously go there …

10 Years Ago Today

It’s been 10 years today since I started this blog (http://livingwithfh.blogspot.com/2011/02/welcome.html).  At that time, only few and mostly meager results popped up on google when you searched for “familial hypercholesterolemia”. There was no FH Foundation (https://thefhfoundation.org/), no FH social media groups, and outside my family I didn’t know anyone else that had FH.

I started this blog from a need to find out more, but also to document my journey and share it with others who I knew were out there, for you know you’re never an island. You know, even if you don’t have physical proof, that there have to be others, thousands, maybe millions like you. I was also wondering whether they would be confused if they were lucky enough, like I have been all my life, to find a doctor to diagnose their FH right. Would they be lost and not know where to from there? Would they know what to expect in this journey when it comes to treatments, side effects, tests, and complications? I was going through all of them – all the treatments available - I was finding some, I was rejecting others, I was going through tests several times a year and learning more about what FH does to my body. I wanted a place to document all those and a place that others would find helpful so they won’t feel like looking into a dark hole when they were faced with this diagnosis.

I wanted the blog to be that connection from them to at least one another person like them. Although I had my family, I was missing that connection to others so badly.

I have always said since I started the blog that if even one person reads my blog and finds it interesting for one reason alone, learns one thing they didn’t know, if even one person feels less alone, less lost, and more encouraged that this disease is manageable, that this disease does not have to rule us although it defines us, then my mission with this blog is complete. That’s all I signed up for: one person and one thing.

Over the years, I have exceeded that goal and I am forever grateful to all of you who have constantly reached out, who read this blog, and who have sent your comments to me over time. I always say it here and I pray for it every day that I wish you much health and good luck taking care of you and your families.

A lot has changed in 10 years. Aside from meeting so many others with FH, the FH Foundation was established also in 2011 and they also found my blog and invited me to be an advocate for FH. This was such a blessing as it opened the floodgates to information about current research and increased my own knowledge about FH, as well as, inevitably, increased the knowledge I share with all of you in this blog. But also, the most precious gift to me after connecting with them was to connect with many others like me and learning from their journeys. I am sure this connection would not have happened had it not been for this blog.

A lot has happened in the world of FH as well in the past 10 years. We now have our own ICD 10 codes for FH, and we even have a National FH Day in September. There are charity events (https://livingwithfh.blogspot.com/2017/08/fun-with-purpose.html) focused on creating awareness for FH, and I can tell you – most of my friends and acquaintances now know exactly what I have, what it means, and what it can cause. 10 years ago this was merely a dream.

It’s amazing what this small personal endeavor, a simple blog with the help of technology (a free blog and social media) can do! How many bridges it can build and how many relationships it can forge. How much support and hope.

Thank you to all of you who read here. Thank you to everyone who subscribes on Facebook or through email. I do hope, still, that you continue to find at least one helpful thing from my journey. And thank you for sharing yourselves, as well, through your comments and private messages. I am grateful I ever found you all.  

Days when you realize that dreams do come true are the most special. Today is one of those.

Here’s to the next 10 years!

On the Fifth Anniversary of My Heart Surgery

Hard to believe that five years ago today I was getting a new heart. They call it an open-heart surgery (OHS), but for all intents and purposes, it was really a rebuilding of my heart: a Bentall graft implanted in the place of my aortic valve, root, and ascending aorta; an aortic arch endarterectomy (repair), several endarterectomies of several main arteries in my heart, and four by-passes. My surgery is documented here: https://livingwithfh.blogspot.com/search?q=day+1+to+8 .

Just like every year on this date, I will read the surgery report and just wow myself into stupor. How much can a body take? Hours on the heart-lung machine, circulatory arrest flirting with the limit allowed, heart attack following the surgery, neuropathy for years after that, closed up by-passes years later, pump head that’s lasted now into my fifth year … But also, how brave and certain and a little crazy can heart surgeons be to have the courage and the firm hands to do it all?! The depth of human knowledge and curiosity and bravery to push boundaries never cease to amaze me.

The surgery was still the hardest part of this journey, I won’t lie to you. Just the thought of what the body went through, the risks, the pain, the sheer demolition of every nerve I was ever made of. Everyone told me right after surgery that my body got hit by a semi and I need to take it easy, and that was not a joke. Like I said before; I  felt like my body went to war. And it lost.

But also, the faith, the amazing knowledge of the Utah Valley Regional Cardiac Surgery team were humbling and awe-inspiring, to say the least.

The recovery, little by little, revealed new surprises every year. Every day. I had to learn how to function with neuropathy in my left hand and leg first, as well as how to breathe with neuropathy in my diaphragm, when my lungs were not getting a full load of air. In time, they all cleared up except for my pinkie and ring fingers – they are still full of needles.

I had to learn how to exercise again, a little bit at a time, after two bouts with Cardiac Rehab, a year and a little bit apart. Like a vet that comes injured from war and has to learn how to walk again, one small achievement at a time, I had to learn things and learn my new body. I was amazed how much it felt like I did get a new body, when in fact only the engine was replaced.

I had to learn new ways of monitoring my health, like managing my INR – and how not to freak out every single time the numbers are too high or two low … This, too, this scare and worry (because it’s still here and it’s constant), must be your friend, because it’ll never leave you … You just need to tell it some days: ah, well, we’ll try better tomorrow! Just chill!

Same goes for not freaking out when you accidentally cut off a piece of your cuticle while chopping veggies and then you can’t stop the bleeding. You learn about the amazing power of coagulating bandages that grow a scab for you when your body can’t.

You have to get used to new blood pressures and pulses. New, more difficult ways to get an accurate echo of your heart or even a good cath – because that Bentall graft is in the way. Catheters have a hard time getting through it to look at the really small vessels and it casts a shadow on your valve and heart and they’re never too sure what they see anymore … Much trust.

All such memories now, but also all part of the new me and new normal. You have no choice but embracing the new-ness. It is the new you. It is the better you. I feel different today and in some ways I feel like I exchanged old problems for new ones. But, believe it or not, the new ones seem more manageable than the old ones. My aortic valve is not two thirds shut anymore. My LAD is not 99% occluded anymore. My stamina for lengthy exercise, albeit slow to moderate, is much better.

Some things are different but still there, like the chest pain and the neck pain from the stenoses in my carotids. A lifetime of echos, ultrasounds, and MRIs is still the norm.

Although I took things easily right after surgery, little by little life became more normal: I started travelling, first by car, then by plane. Within a couple of years I found the courage to fly to Europe. I have been there twice since the surgery. I have been on two cruises (before Covid, obviously) and several times to Canada. I also traveled across the country by myself several times for work. It was, again, like learning baby steps. But it is possible. I can tell you I am in touch with every sensation in my body. If something is “off” I feel it right away. This has not stressed me as it’s made me more curious to learn more.

I have also learned so much from other patients. I have made friends during this journey that I would not have made otherwise,  people like me that share freely, honestly, vulnerably their own journeys. Their stories make me so much stronger and make me believe that there is so much strength in us. All I have to do is learn courage from them and find it in me. We all have it. Of that I am sure.

I have also become so much more grateful for every good day. Every day when my tiredness is not too much, I am grateful. I have become more grateful for my family. Every day that my husband does something for me to help me through – I bless him and people like him, those who truly have helped me through this, without whom I would not be here today. Of that I am also sure.

For those out there contemplating whether they should have OHS, I hope you find the strength to do it, and the faith that it can improve your life. I also hope you find the strength in your family and a great team of doctors to walk hand-in-hand with you through this journey. All I know is: you are never alone. You are the main hero of your destiny, of course, but there is a web of little helpers out there that will carry you through. To all of those little elves, starting with my surgeon and ending with my husband, my tireless caregiver – I owe them my life. And I humbly thank them.

Happy journey to all and Happy Heart Month!

On the left: February 11-12, 2016: the day of the surgery, before they wheeled me in; the day after surgery.

On the right: February 11, 2021

Beginning of the Year

Happy New Year, everyone! I think we all put more meaning into this wish this year than any other new year before.

It’s been a while, but not many things have happened.

On the FH front, I am still on the same therapy as I have been since early last year – since the Bempedoic Acid was approved.

Because my joints have been more painful than ever, and because my muscles are tender lately, we (the cardiologist and I) stopped the Bempedoic Acid in the fall (as described here: http://livingwithfh.blogspot.com/2020/10/trying-to-achieve-best-results-with.html) for about a month to see if the pain would stop. It didn’t, really. So, he added it back to my usual cocktail (Lipitor + Zetia + Praluent, at this time). Because we stopped that for a month, the levels for the LDL and Total Cholesterol went up at the last test, as you can see below. Interestingly enough, my HDL is now almost normal, something of a rarity for me – usually that is abnormally low.

Another interesting finding this time is that my Lipotrotein (a) value, which is supposed to be a constant, almost doubled. I will come back with another post about that one.

The cardiologist, along with my PCP, do recommend that I should stop the Lipitor for a month to see if this will stop the joint pain. They are both convinced that it will, at which point I will need to decide whether I want to be on it or not. I would rather not experiment with this, as long as I can take the pain, which for right now, is sufferable. As long as my liver and kidney levels, as well as the levels of CK are normal (and they are, as we continue to monitor them every 3-4 months), I am determined to keep the cholesterol therapy as aggressive as possible to keep my arteries healthy. CK indicates whether there is any muscle damage which would show up in an elevated CK in your blood. So far, this level has been normal for me. So, I am muddling right on through, joint and muscle discomfort or not.

The cardiologist agreed to watch the numbers for these three areas and let me handle the pain. I do not take anything additional for pain. I do find that exercise actually helps with it. It does hurt very much to move, but after a sprint-y lengthy walk or an hour of yoga, when I am at rest, my joints do feel more mobile and less painful. If I go even a day without exercising, my joints are stiff and painful.

I did buy a standing desk for work and I stand as much as possible during meetings, which I have many, sometimes up to 6 a day. This helps as well, as it gives my body more range of motion than when it was just sitting for 8-10 hours every day. I noticed that trying to keep my inflammation down also helps. I do have an mostly plant-based diet which helps keep the inflammation down as well, and to that I have added more avocado, more fiber, and turmeric into my every day meals. This seems to help keep the inflammation down as well. So, here’s hoping …  

On the heart front, I am still fighting with drugs and playing around with them and different strengths to see what the best combination is for keeping my blood pressure down. I am still not at a point where I can say with confidence that we have gotten my blood pressure under control.

The one drug that really helped for me, Amlodipine, causes extreme sensitivity in my gums, as well as makes them bleed. As any heart patient knows, but especially those with a mechanical valve like me, we need the best possible oral hygiene to avoid infections of the heart. So, living with bleeding gums was non-negotiable for me. Losartan is another drug he put me on for blood pressure, but it’s not really working all by itself. So, now he has me on a combination of Losartan and a very small (child) dose of Amlodipine. The gums are fine, the numbers look better but not in the normal range yet. Or at least not on my left arm.

FH throws another kink in the blood pressure values: because of the different levels of stenosis I have in my arteries, my blood pressure in my left arm is much higher than in my right. For an example, see the table below – these are levels in the current month. Apparently, the different numbers on the two arms  is normal for everyone, and the big difference you see between the arms is “normal” for people with atherosclerosis.

Shrugging. Just another measurement that you have to get used to not being “by the book” when cholesterol wreaked havoc in your body, I guess …

I am not really happy with the current drug arrangement for the blood pressure for two reasons: the numbers are still on the high side, the symptoms are still there (chest pressure, calf and neck cramps with exercise) and I would rather not add two (instead of one) medications to my overall cocktail of 12 drugs or so a day (http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html). So far, he wants to continue this regimen for another month (till the end of February, I think) and then we’ll meet to reassess.

I feel like we're always guessing and always trying to figure out what regimen is the best to keep. There is no certainty in anything and I truly try to make the decisions that seem to be the less harmful to me and allow me to have the best quality of life. They might not be the best, but they seem the best from where I am sitting. 

Aside from all these technicalities, and all the side effects and pain I have mentioned above, life is generally good. Outside of the “normal” restrictions we have in place as a family for Covid19, I have no restrictions that prevent me from doing everything I want to do. I work, I walk, I do yoga, I do all my  house chores, we take short weekend road trips and hike, and otherwise, I lead a normal life. Or whatever you call normal for me.

Sure, making sure all the drugs are taken on time, that the Praluent shot is done on schedule, the blood pressure measured every day or so, the INR is measured and reported to the clinic once a week - but these are all part of my routine for life. So, I think more than the bugging joint pain, more than the let-down of the blood pressure being weird or having to take two extra drugs to get the numbers to look a little better, the one thing I feel most of is gratitude. For still being alive and for still being mobile. For everything.

I started out this journey at 8 and they told me I won’t see 25. With a bit of luck and the grace of God, I will be 46 this year. I am so grateful, it renders me speechless.

I sincerely wish everyone much health in the new year. May you know as little loss as possible, if any,  and only peace, health, and love.