Access to New(er) Treatment Might Not Be As Cut-and-dry As You Might Expect

Disclosure: I just want to say, as usual: I do not recommend any of the drugs mentioned in this blog post. These are solely my own experiences, research, and conclusion at this time. Mine, and no one else's. No drug companies or medical facilities contributed to or are to benefit from the opinions listed here.

Also, I would like to mention that I am aware of the privilege I have to have options and choices for treatments. Millions others (without exaggeration) are not as fortunate as this.

As you might remember, back in May (http://livingwithfh.blogspot.com/2023/05/treating-heart-disease-haggling-style.html), my LDL cholesterol was 125 mg/dl. This is hardly “acceptable” for someone with my load of risk factors (previous heart surgery, heart attack, family history of strokes and heart attacks, and almost 20 years of coronary artery disease). My target LDL is 70 mg/dl at this time - lower than a person with no risk factors. 

But with FH, especially with Homozygous FH, it’s what you have to settle for, most often. Maybe you cannot ever get to your target levels, but you can reduce the untreated levels massively - as it happens in my case and just call it your best effort. Last time my cholesterol levels were measured without any medication, my LDL was 475 mg/dl. Coming down to the current 125 is clearly an achievement not to be contested, I think. 

But could we do better than this?! I have heard of first-hand reports from HoFH individuals that have tried the new drug Evkeeza (https://evkeeza.com/s/) that they managed to reduce their LDL down to as low as 50 mg/dl. Evkeeza is in the class of drugs called “ANGPTL3 inhibitors” and it reduces the levels of all three major cholesterol-related fractions (LDL, HDL, and triglycerides). There is still no proof that it does reduce the advancement of atherosclerosis or cardio-vascular disease, but from what we know about high lipids, reducing their levels normally triggers the reduction of atherosclerosis. But this is just a hypothesis at this time in the history of FH drugs. 

The drug is approved only for Homozygous FH, at this time, but given my diagnosis (https://livingwithfh.blogspot.com/2017/08/the-long-journey-to-hofh.html) of HoFH, this seems to fit the bill for my case. 

As you might also remember from the post back in May (linked above), I usually have to haggle with my cardiologist for the right treatment.  Evkeeza is a relatively new drug. It was approved by the FDA in February of 2021. I asked my cardiologist about it in July 2021. At that time, he did not know anything about it. I asked again last year and he came back with the same answer and only evasively agreed to look into it. He suggested I might be eligible for Leqvio (Inclisiran - https://www.leqvio.com/) which is a PCSK9 inhibitor (similar to Praluent or Repatha) but given in a different dosage and with a different frequency. If I were on Leqvio, I would need to stop the Praluent that I am on now. If I were on Evkeeza, from what I know from my own research, I would be able to add it to my current drug regimen (http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html). This way, I would receive the lowering benefits of all the other medications I am on, since they have different mechanisms of action. 

I tried asking my doctor again this May (2023) if I could qualify for Evkeeza. At that time, he begrudgingly said “well, I guess I can look into it, but I have no idea how hard it would be to get your approved, and I don’t even know if you would get approved.” 

I asked him to explain: I have a genetic test that shows clearly I am a Homozygous FH patient; I have lots of risk factors proven by a long history of atherosclerotic events, I have the family history, I have a worsening heart (according to the stress test that he did last year there is increased damage to the heart muscle, possible from completely closed capillaries - he speculates), and I am on four different therapies for lowering cholesterol and my LDL is still not at target. 

I asked him how he make it that I would not get approved? 

He said something like (or asked, rather):  “do you have a written test result that shows that a medical institution confirmed the HoFH diagnosis?”. It took all of my might not to scream when I heard this question and not to literally slap him. 

But I like to give people the benefit of the doubt and acknowledge that I am not their only patient and they have a busy schedule and no time for research, but still. The genetic test was one of the first documents I showed him back in 2018 when we first met. Plus, he had asked me for the “written genetic test result” several times when his office got me approved for Praluent and Nexletol (these are not medicines approved only for HoFH but the accurate diagnosis was needed to get the approval in both cases). Both times, his office confirmed that they would scan this test result into my records so it would always be on file. Either that didn’t happen, or he doesn’t read my files? It’s anyone’s guess. 

So, I sent him a new copy of my genetic test. This was in May. He said he would “look into it” and I never heard anything since (three months later). I asked for an update a couple of weeks ago and I finally got a note from him a week later: “Looking into it.” 

So, as of right now, I don’t know whether I qualify for Evkeeza (I can only guess with a strong file built by someone who understands my disease I might), nor if it’s even recommended for me. He never so much as said that it might not be good for me, for one reason or another. All I know about this drug is what I have found in my own research. 

But it irks me to no end that a treatment option might have been out there for me, for 2 years now, and I am not taking advantage of it. Especially with my heart condition still worsening ... 

In this disease, time is truly of the essence and the older we get (as we all are), the harder it will be to stave off the advancement of artery disease when LDL cholesterol levels are outside the limits. That we know. 

But switching to another doctor is not that easy - not with a complex disease as mine (and I am sure many of you can relate). There are things “set” with the doctor that takes care of both your heart and your lipids. 

To name a few of the things that would need to be restarted with another physician if I were to walk away from this one (I think you’re tired of me by now reading here how dissatisfied I am with him and how many times I thought of changing him out with another doctor): 

• He manages my yearly heart tests (echo and nuclear stress test, mainly but he is also on the vascular team that manages my carotids and abdominal aorta too). I would have to start fresh with another doctor to explain the need for all the tests, the history, etc ... 

• He approves my specialty-pharmacy drugs every year (Praluent and Nexletol) and his office does a flawless job with this. They have this down to a science (and I hope I am not jinxing myself for the future!)

• He manages my INR levels. Well, that is not fully true: I manage my own INR levels, but I cannot get measuring strips for my INR machine anywhere else unless I am enrolled in a “test at home” program that is setup through an INR clinic, like his practice has. 

• As an aside - I have met a lipidologist who would love to get Evkeeza approved for me, but he does not work with any insurance company, so I would have to pay for an office visit several times a year, and for the lab tests on my own and then ask for reimbursement. This is something that the current doctor (given that he is with a major healthcare system) does as a service right now. A minor inconvenience, I know, but I am seriously thinking at least of this switch to the lipidologist, if nothing else. I would still need the current cardiologist for all the heart-related issues. 

Our healthcare system is already complex and unyielding. Add the complexity of FH and heart disease to it and you’ve gotten yourself into quite the spiderweb. But some hair will have to come off when I pull that bandaid, eventually. Like I said: I am not getting any younger. I have less and less the desire to also get any sicker, too (although this might be unavoidable) - especially when there might be other options out there for better treatment. 

Maybe Evkeeza is not for me. Maybe there are some contraindications that I don’t know about from my own research. I am not a doctor, obviously, and I don’t know how to apply a drug to my unique disease profile. This is what I am looking at doctors to know and explain to me. But I need to know something - anything, about whether this is worth trying or not. Something more than “they’ll look into it.” They have been doing this for close to 2 years now (the first year they “never heard of it”). 

At this time, I feel like I have reached a crossroads but not sure what the direction will be from here ... 

Treating Heart Disease, Haggling-style

As readers of this blog probably already know, once you have cholesterol which is only somewhat managed but not fully, you start getting the additional baggage of heart disease and sometimes even strokes. So, as you well know, I manage two diseases - both high cholesterol and heart disease, hence the name of this blog. 

This entry is about how I have been trying to manage my heart failure condition in the past few months to a year now. My heart failure is only one of the several heart-related diagnoses that I have been saddled with. Some others are coronary artery disease (CAD), aortic stenosis, and atherosclerosis. 

I was diagnosed with a high BNP value in 2017 (for more information on that first diagnosis see this post from that year: ​​https://livingwithfh.blogspot.com/2017/05/cholesterol-and-heart-health-update.html). At that time, it was 285 pg/ml. But at that time, they did not call it heart failure yet. That didn’t happen until 2022. 

BNP shows the amount of damage in your heart and helps the cardiologist diagnose the level of your heart failure. My type  of heart failure is “Heart failure with preserved ejection fraction” which is a category all of its own. All other categories are different degrees of “heart failure with reduced ejection fraction”. My ejection fraction is good (unlike the heart failure with reduced ejection fraction), but the heart muscle is stiff which is what causes the high pressure, along with other symptoms, like shortness of breath. Outside of the BNP test required to measure the heart failure (a blood test which is not cheap - around $285 without insurance at my clinic), they can also measure the ejection fraction during your heart echocardiogram test which is something I get once a year. During this test, they can also see whether your heart is enlarged or not (more common with heart failure with reduced ejection fraction). Putting all these data points together, they can diagnose more precisely which type of heart failure (HF) you have. The treatments for any of the types vary slightly, so a correct diagnosis is preferred. 

Things have gotten worse for me since 2017 when they first measured an elevated BNP. It kept climbing all throughout last year, during which time my shortness of breath kept getting worse. For example, I could not go up one flight of stairs without feeling completely out of breath; nor could I walk across the living room with a half-full laundry basket en route to my laundry room without panting like a dog at the end of the 20 feet trek. Not ideal for a 47 year old who is not overweight. 

In November of last year, the BNP was the highest that it’s ever been, since we’ve measured it, at 692 pg/ml. Along with a worsening shortness of breath and higher BNP, my blood pressure has not been totally controlled, more often being around 160/ 50-60’s and more seldom measuring at around 120 / 50. Some days, it spiked to 180’s, too. 

During this time, the cardiologist continued to “play” with various drugs to try to manage my blood pressure, first. The belief is that if we control the pressure better, less damage is done to the heart muscle and the BNP will ultimately improve. 

I call it “playing” with the drugs because that’s exactly how it feels. When he decides to add drugs or change drugs for my blood pressure, the conversation goes something like this:

Doctor: Well, we could add the Spironolactone which is a diuretic and it’s a drug older than you are, or, we could add Farxiga which is a diabetes drug and newer. Which one do you want to try? It’s sixes to me! (this is all an almost exact quote)

Me: Well, what do they do? How are they different? (I am not sure that all patients ask this, but they should!).

Doctor: Well, one of them takes the water out of your system, the other takes the sugar out. Both have good results on improving heart function and ultimately BNP.

Me: Which one has fewer side effects? 

Doctor: They are both generally well tolerated, but the Spironolactone elevates your potassium, so we need to measure that periodically and ensure it stays low. No other side effects to worry about. (I have always struggled with a doctor telling me that a drug “is generally well tolerated”. I understand this is all they have sometimes, but I have found that the tolerance is always in the eyes of the beholder. And they never account for that.)

Me (dubious as I know from experience he leaves many side effects out): 

Well, I have not heard of either one, so let me research them and get back with you. 

And he lets me go home and we’ll talk about it at the next appointment, in three months... Then, I choose one (depending on what I find on the internet and what concerns I might have), and he works on the right dosage and how often to take it. And he puts me on it, we try it out for a while, I report any side effects, because there are always side effects (including ones the pamphlets never mention), and I decide whether the side effects are worth living with or we need to stop. 

The dialogue above happened sometime last year, when my BNP kept climbing up slowly till in November it got to 692 and my shortness of breath kept getting progressively worse. Before then, he tried many other drugs - I have been on Amlodipine since 2020; he also tried Losartan and Ramipril. But the blood pressure never really seemed to budge much. 

And then, he added Spironolactone. The blood pressure finally came down - my pattern was now reversed - more days of 120 / 50 and fewer days of 169 / 60. But the chest pressure was only marginally better, if noticeably better at all. And I started getting more palpitations and more panic-attack-type episodes than ever before ... But I stuck with it, because I wanted to see how the BNP would fare. 

He repeated the BNP in December and in February and both times, it was only slightly lower than when we started (581 and 598, respectively). So, finally, in February, I told him I am not sure I should continue with the Spironolactone. The side effects and the little benefit I was seeing did not justify everything else that was not conducive to a qualitatively good life.  I texted him (a luxury, I know, that I have with this particular cardiologist to be able just to text him!) and he said “Stop taking the Spironolactone.” That was that. Not replace it with something else, double up on the other things you’re taking (Amlodipine and Atenolol). Just stop! We have a follow-up appointment later this month, so I guess he figured he’ll make me guess on some new drugs again then! 

I stopped the Spironolactone but I started taking Amlodipine twice a day instead of once a day, basically doubling the daily dose at the very same time he told me to stop the other drug. The doubling was a judgment call I made, after remembering that he told me years ago that the dose of Amlodipine I was taking was a “child dose” (I am very sensitive to any amount of any drug, so he usually starts me on lower doses). So, I figured, if we double a child’s dose, we might get a better response for the blood pressure and by now I have gotten used to the side effects from Amlodipine. He was fine with that. 

Since February, when I made this change, the chest pressure has gotten so much better, the blood pressure continues to stay low, still with occasional spikes, but more rare, and the BNP dropped to 388 when we measured it in April this year - so, almost half of when it was the highest last year. Still too high (the normal is again, below 190 pg/ml), but I take any improvement. The trouble with doubling the Amlodipine, however, is more edema (swelling in the legs and feet) and more sensitive gums (more bleeding when brushing my teeth). You always have to know your body, notice what happens and try to weigh the bad against the good and try to figure out what is manageable for you. I am sure many of you out there would make totally different choices than me, when presented with the same alternatives as I have been. 

I am not sure what, if anything, he might suggest next. He has been bugging me about the Farxiga drug for several appointments now, but I am not sure about it. We will see ... 

On another note, (almost) no idea why this happened during this time, but my LDL cholesterol has come up since November. I have not changed anything about my diet, and outside of “playing” with the heart drugs, I have not introduced any other drugs. However, I lost my dad in November. My own grieving process and managing my mom’s depression from afar (she is in Romania and I am in the US) through her own grieving during this time has been excruciatingly hard. There are many proven studies that show that cholesterol rises with stress (has to do with a higher level of cortisol, the stress hormone, in your body - you can google this and there are virtually thousands of sources speaking about this). 

The latest change in my cholesterol levels

This is just a guess on my part. I have communicated to my cardiologist on several occasions that I am under a lot of stress lately, but when the cholesterol results came back earlier this month, I still got a note from him saying “don’t know why LDL is up. Will talk.” 

If I have learned anything during this journey, it is that the research I do on my own is just as effective, sometimes even more so, than the advice I get from my doctors. It is unfortunate and wrong, but it’s what it is. And I am not sure what broke what: the fact that the patients are more knowledgeable now than they were before caused the doctors to pay less attention and be less educated? Or the fact that the doctors are so much more super-specialized and not as thoroughly trained as before caused the internet to fill in the gaps because the demand from the patients is definitely there?! 

Like the cardio guy said to me: it’s sixes to me. I get my information from him, from other specialists and from the internet and try to make the best decisions. I figure the average of all those opinions is still better than doing nothing. 

Stay healthy, you all! And never stop fighting for your answers. 

It’s Been 7 Years!

There is something magical about number 7. It’s not my number (that would be 9), but it’s magical. I am not going to get into all the symbols of number 7 in all the cultures and throughout history. This is not about numerology. This is about the fact that 7 years ago today I got a new heart and a new lease on life. This is about reaching this milestone and being grateful.

7 years ago, in a hospital in the obscure (to those outside of the US) state of Utah, in a small town of barely over 100,000 people called Provo, I was getting my heart stopped, cut open, and I was having my aorta and aortic valve replaced with man-made parts. Then, I was having four bypass surgeries around four major coronary arteries that were between 90-99% blocked, and several endarterectomies to clean out the incredibly heavy amount of plaque that my 40 year-old body had accumulated due to this little known rare disease called Homozygous Familial Hypercholesterolemia. Are you awake yet?! 

I documented my surgical journey of 8 days in the hospital here (https://livingwithfh.blogspot.com/2016/02/open-heart-surgery-day-1-to-8.html), for those who want all the details. Several years of cardiac rehab followed, all with ups and downs. This entry, is about the lessons I have learned in all the years that followed that day.

After that massive surgery, along with my body not feeling like my body anymore for a while,  several things transpired. I am guessing if you ever go through a similar journey, you might encounter these learnings, too, so I am sharing:

1. You might shamelessly, unapologetically fall in (platonic, respectful) love with your surgeon. My own surgeon reminded me that it was not only him, but the whole team (three surgeons and three cardiology surgical PAs) that gave me the miracle of a better-working heart, but I know he was the leader of the pack. The mastermind. The true artist. The guy with all the guts to reshape a heart so sick in just one, long (13+ hours) surgery, just because he made a commitment to himself that “he never wants to look at my heart again”. He made sure I never have to have that surgery more than once. How can you fall in love with the person who mended your broken heart? Literally?! I do not know how.

2. Even with a fixed heart, you can still have a heart attack - as my body proved just a week (7 days!) after he closed me up. This added insult to injury, let me tell you, but I was glad I was still in the hospital for it, with all the specialists around me. I survived that, too, although my heart is still reeling from the damage that attack did to my left ventricle.

3. You will re-learn your heart, its new antics, and your whole body after a shake-up like this! You will have new sensations in your chest, new symptoms of chest pain and dizziness, new types and intensities of tinnitus, and so much more! Nothing will feel the same as before the surgery. And it’ll take a couple of ER visits to learn that a heart palpitation might not always mean that you’re having another heart attack - sometimes, it’s just your blood pressure being low and asking for you to lay low for a spell! And the ER staff will give you a bag of salty chips to get the pressure back up and send you home. True story! 

4. You will learn that Coumadin will not kill you by making you bleed out! You’ll manage it, by fits and starts, and you will become begrudging roommates in this newly renovated body of yours. In the end, it’ll become like the rascal little brother that you sometimes love (it keeps you alive by preventing your new mechanical valve from clotting), but it annoys you sometimes when you can’t get a handle on what it decides to do one day (like make your INR twice as high as it’s supposed to be just because you exercised too much one week or your dad passed and you’re under too much stress). 

5. You will really learn the truth about what initially will feel like a cheesy cliche that “once a heart patient, you’re always be a heart patient.” This is, scout’s honor, the honest truth! There is no “cure” from heart disease, really. There is managing it, staying on top of it, but there is no “forget about it. This was in the past.” The disease will stay with you and it will morph into something else every year. Every month. Every day, even! There have been some big wins, for sure: my valve is very healthy and not leaking; my ejection fraction is healthy, around 50%. But there have been setbacks too: my smaller arteries which were too small for bypasses or endarterectomies have gotten sicker and possibly more clogged and continued to damage my heart muscle. My heart muscle, especially my left ventricle, is now stiff and my heart is in the beginning stages of heart failure (with preserved ejection fraction, which is the more rare and harder to treat version, so I have learned in the past year). The annual tests, and the quarterly cardiology visits continue and will continue for the foreseeable future. 7 years later. Indeed, I will stay a heart patient as long as I live. Some old symptoms are here, but changed. And new symptoms have popped up. But this is you now. And this is your reality. And this is OK. Have gun, will travel! You have the tools, the knowledge and the experience, and most importantly: your heart is still ticking - you learn to trust and move on. Being a patient is far better (sometimes), than being dead! And having a disease you can manage is a blessing! You will learn this to be true. I sure, we all want to be fully healthy. But if you were to have a disease, better have one you can manage.

6. You will learn how to be happy and feel safe in this body. Broken, scarred and winded, you will learn what it wants and move on. Take that trip you always wanted (I always wanted to go on a cruise. I went on two during these past 7 years), climb that mountain that you think it’s too much (I remember how I felt like I was going to die before I reached the top of Ensign Peak in Salk Lake City, but it felt like I conquered the world when reaching the top and taking in the view of the Salt Lake and the valley), fly across the world again, even alone. It’ll be scary, but you’ll do it. I (along with millions like me) had the unique misfortune to hit the Covid years during these last 7 years and that “stole” a couple of years of my life. But I learned how to travel locally and how to be careful and still found some joy in the temptations that were close-by. The world is beautiful even outside your front door. And I am glad to see another day to enjoy it.

7. You will learn how to advocate for yourself even more than before. There will be a time when you might have to change doctors - because your original “dream team” that first diagnosed you, babied you before and after your surgery won’t be available - because you’ll move or they’ll retire. The new people won’t listen to you, will assume you don’t know much about medicine or about what really happened during that surgery - but you’ll have to learn that your voice carries and you can always scream louder. You will make them listen, or fire them. And they will, eventually, keep you alive. But you will know that the force is in your lungs. 

8. You will learn to be humble. First off, you will learn to love your body again and thank it for carrying you through another day. I used to refer to my heart after surgery as "oh, my stupid heart", and I don't do that anymore! That was insulting to it. It was demeaning. Now, I cherish it and thank it for every beat, every single second. I bow to it with humility! It does such hard work and it's been through hell. You will learn the miracle of good days, of the days when you don’t feel like an elephant is taking a seat on your sternum, and you will feel grateful to the miracle of medicine that’s helping you through. 

9. You will absolutely become some kind of a germaphobe! No doubt about it! Bacteria and viruses will scare the crap out of you, especially when you read about folks getting sick with endocarditis and having the valve replacement surgery redone because no antibiotics worked to cure the heart infection! It will scare you witless, I guarantee it! 

10. You will learn abbreviations and acronyms that you never thought you’d learn in your life: OM, LAD, CVD, CAD, AHA, EF, HFpEF or HFrEF. No dictionary needed here!

If there is just ONE thing that I could share about how you make it through the hell of open-heart-surgery and heart disease and back is this: don't think too much of the future. Not necessarily in deep, fine details, anyway. Give yourself bite-size milestones to reach every day: today, you might focus on breathing better; tomorrow - on eating more properly; the following day on walking a few feet further. Whatever it is. Focus and do it with all your might, energy and heart. Keep moving forward through your everyday milestones and one day, you'll look back and be amazed at what you've been through, how much you've accomplished, and how strong you are as a result. Telling yourself "I want to climb Mount Everest 6 months after my surgery!" when you still have tubes going through your ribs and you can't take one breath without screaming in pain is nothing but demoralizing. Tell yourself you will kill that tube beast soon; focus on learning how to breathe with it; allow you body to heal and get strong by paying attention to it every day, and Everest will wait for you at the end of that journey. I promise it!

I think the one thing most dear to me that I cherish today is that I am still here. Today, while I am thinking of all the hardships I have overcome with gratitude, I am definitely not thinking about the ones that still lie ahead of me. If I do the work of today, I know I'll be as prepared as I can be for tomorrow's challenges. I have to trust that. Today, I am mostly taking a minute to be grateful. Today, I am thanking my team, my family (my husband is my Guardian Angel, my nurse, my psychologist and so much more!), God, and my body for being here for me through it all. To paraphrase Anne Lamott, "life is such a show-off".

Again, like I said above: I am humble. I know there are forces bigger than me at play. I am merely a raft on the angry ocean, being pulled away, and thrown ashore, but still intact. Damaged, and full of weeds, but still afloat. I’ll cheer to this and hope for at least 7 more "magical" years! 

A journey in time: from the day after the surgery, going home after the heart attack, happy in cardiac rehab, with my amazing surgeon, Dr. John Mitchell, at the top of Ensign Peak a year later and today - 7 years later! (you may click the picture for a larger view)

New Year, New Thoughts

I hope the new year is going to be truly happy and healthy for everyone who reads here and for your loved ones. 

I just realized that I have not updated this blog for quite some time and that even for me (not a daily, nor even a weekly poster), 3 months is a very long time to be silent. I would make a commitment to not let that happen again but I can’t. I have learned enough from life in my almost 48 years to know that stuff happens. Life gets in the way and we get side-tracked, or simply busy with so many things that leave us knocked out at the end of every day where we can’t muster the strength to crawl into bed, much less the strength to string two sentences together and ensure they are presentable to the world. 

I will open the entries for this year simply by laying out the thoughts that run through my head at this time, as I open a new page in my life. 

Surely, the fact that I lost my dad (http://wander-world.blogspot.com/2022/12/dad-obit.html)  in November, during the week of Thanksgiving, weighs heaviest on my mind. He died of complications from FH. He died almost exactly 4 months after his 70th birthday. He was diagnosed in his childhood, after the family already knew the history on his dad’s side. Back then, all they knew is that they all had high cholesterol, that there was no way they could manage it or cure it, and that one day, sooner or later, they would all die from strokes, heart attacks, or complications from diabetes - like the rest of their relatives who had FH. They had no treatment but even back when my grandfather was young, they were aware of FH and how it’s transmitted. I find doctors who still don’t know this today puzzling! 

Although dad lived much of his life during the many years where medicine made such huge advances in the management of FH (with cholestyramine, statins, Ezetimibe widely available in Romania during most of his adult life), he refused to get treated for it. He did not take one medication for cholesterol, not ever. Not even one time. He used to insist that it’s the medication that will cause the blockages (“it takes the cholesterol away from the blood so you can’t measure it, and it moves it to the blood vessels”, he used to say, “giving you the illusion that the levels are lower”) and not the disease itself, despite many doctors telling him quite the contrary, besides me trying to convince him with the science I had learned here, in the US. Not that this would have been too incredibly helpful, but he also refused any kind of low-fat diet.  His favorite foods were eggs and adding fat back in every meal! Potatoes were about the only vegetable he touched. And grapes were the only fruit, but only in the shape of wine which he made himself. 

Although they believe that most likely he had heterozygous FH (his LDL was in the mid to upper 300’s), he saw complications from FH quite early in his life. In his 30s, he already had high blood pressure and he started seeing early signs of diabetes. As years went by, he started having multiple mini-strokes. Even in his early 40’s he started having strokes and although his functions were for the most part maintained, his sense of balance, his ability to make good decisions, his temper got progressively worse. We could tell something inside his head was not right. 

His blood pressure got worse, and we saw some numbers in him that were unheard of. For years (10-20?) he walked the streets and drove his car with a blood pressure of 220/170 or higher. He used to joke about it, that he is superhuman and his blood vessels and his heart can handle this kind of pressure just fine. 

He begrudgingly accepted to see a doctor or two, maybe every 4-5 years but he never stayed on top of the treatment they prescribed for him. He would take medication only when he could not see straight from headaches or when he was so dizzy he could not drive or sometimes not even leave the bed. He never did get on a treatment that would truly control his blood pressure or his glucose. 

He didn’t take things seriously even after his dad and several of his uncles died of strokes. I used to half-joke and tell him “Dad, with this pressure, some blood vessel would one day pop in your head and then what?!” He laughed it off, saying “you don’t get it that I feel fine with a high blood pressure. Just like high cholesterol IS my normal, so is high blood pressure. Leave me be.”

And he died of not one but multiple strokes (or multiple blood vessels popped in his head).The most severe was in his brainstem which severed the connection between his brain and pretty much the rest of his body. His esophagus and stomach gave out first, then his lungs, and then he went into cardiac arrest. They revived him, but it was very hard to keep him stable because they could not control his blood pressure. When I spoke with his nurse - by that time, he was already on a ventilator -, she said she had never seen a pressure of 250/180 in her entire career. She told me he would never breathe on his own again and that she doubted that he would make it through a second resuscitation. Several hours after our conversation, he did not. 

I start this year not only missing him, painfully longing for our chats, and for his humor, but with the regret (for him) that he didn’t listen in time; that he didn’t trust the science to allow himself to hang out with us a little longer. 70 is so young to me! I also start this year with a renewed energy to not only continue to take good care of myself but to also educate others, through ways available to me, to get a head-start on this disease. My thinking cap is on on what more I can do on this front. 

I also start this year with new health concerns, and a new diagnosis for myself. Last year, my shortness of breath got much worse, even when my exercise routine was getting a lot more frequent and better. I started walking more, also doing yoga again regularly. We started traveling more and hiking more - so I felt like I was a lot more active than the previous pandemic years. And yet, I ran out of steam more quickly and taking a basket of laundry from my dryer to my bedroom (about 20 feet!) would render me breathless. I kept pushing and pushing for some answers with my cardiologist. He is reluctant to do any tests and he is especially against doing (angiogram) caths frequently because he is afraid with my damaged arteries, something will become dislodged and would cause even more acute problems than they are worth. My proBNP (a blood test that shows whether you have heart failure) kept going up during the year. It is normal up to 190 mg/dl. Mine went from 285 to 591 in 8 months. And my blood pressure was harder to control last year than the year before, although I was taking medication for it. 

After seeing another cardiologist for a second opinion and after pushing for answers from my regular one, they both agreed that I have heart failure with preserved ejection fraction (HFpEF) which is a more rare form of heart failure, where your heart muscle becomes stiff instead of being too loose. It is also harder to diagnose, they told me. The good news is that my heart muscle is still pumping well (my ejection fraction is “preserved” which is good - it’s at or above 50 - which is why this is harder to diagnose. Usually, in heart failure, the ejection fraction is very low). I have been on medication for it for a bit over a month now and I can definitely see improvements in my blood pressure and although I still have some shortness of breath, it is not as severe as it was before the medication. So, here’s hoping we found something that works, at least for now. 

I cannot even tell you how reluctant I was to take yet another drug! It is my 8th prescription medication and my 14th drug, overall (including OTCs!). I even told my cardiologist: “I am not scared of another surgery! Whatever it’s causing these new symptoms must be more disease. Send me to surgery, unclog my arteries! Whatever, but don’t just put me on another drug. I am 47! How many more drugs will we add to my list before I am in my 70’s? If I make it to my 70’s?!” Oh, it was not a pretty appointment. 

But the second cardiologist (he is actually a cardiologist I used to see regularly but I moved away from that city, so now he’s too far away from me) agreed that what I need is, unfortunately, more medication. And so it goes ... 

I know that a lot of folks who just now get diagnosed with FH are also reluctant to take medications. But I can tell you: I have never seen this disease work well without them. And once the complications from it start showing up (like my heart disease, dad’s diabetes, and his strokes), there is nothing but a combination of multiple therapies that works to give us even a semblance of a quality of life. It is the sad story of FH, but it is also a hopeful story. As long as we do our part, we research, we find the right team, and the right therapies, we can live our lives and be there for important moments for our families. 

My next thought is about my mom. She also has FH and she is also unmedicated for it. She has aortic stenosis and advanced coronary artery disease. Her blood pressure is managed well, thank goodness, but ... she is a heavy smoker and she has lung cancer and COPD. All in all, not a good “cocktail” of diagnoses for keeping her body supplied with life-giving oxygen. Like dad, she refuses cholesterol medication and diet, although at this point in her life, and with the advanced disease that she has, I would doubt the drugs would be able to reverse any of the damage. I am not very hopeful about what this new year would continue to bring to us, I would not lie. 

I usually don’t make any New-Year resolutions and I don’t go on a gym binge the first week of the year. I never have. But I used to be excited about the possibilities a new year brings!  I used to look forward to much better days than the ones we leave behind. But ... I have never started a year as defeated and as alone as I feel that I am starting this year. 

I am not physically alone - I am so incredibly grateful for that. I have a wonderful husband who is my cheerleader and my support system. I have a sister who although lives in another country is my rockstar example of how you manage FH well - she is our runner and all-around health guru. She is always there for me and ensures her kids live healthy lives, too, so we can teach them how to manage this thing and live fully. I have access to good drugs and good doctors (for the most part). But I cannot help but feel somewhat defeated. Like that saying about the cobbler having no shoes, I feel like I know everything there is to know about FH and yet I cannot stop it from killing my family, quite bluntly put. 

My heart is heavy and my thoughts are gray. I will try to push through, as I always do, but it will be a challenging year ahead. 

I hope for much, much health for all of you! In Romania, we always wish everyone “health, because it’s better than anything else.” And I truly believe that is true. We can move mountains, only if we had health. 

Happy new year! Happy new beginning! - I wish you all whole-heartedly. 

Cholesterol Values after Covid-19

(Updated on January, 2023 - see update at the end of the entry)

Although I have read many articles online about how Covid-19 seems to reduce cholesterol levels, my family and I have found quite the opposite. 

Of course, like everything with Covid: where is the truth? Where is the evidence? There is still a long road till we know for sure what this disease does to our bodies. Once we’ve had it, we’re in the long haul of finding out how ultimately it will affect us. This, I firmly believe. 

Below are my numbers before and after Covid: I had Covid in August 2022. Notice that the values (particularly of the total and LDL cholesterols) jumped about 40 points from February to September - about a month after I tested negative. 

What is even more interesting is my sister’s story: she had Covid in April 2022. Her numbers (for the total and LDL cholesterols) between November 2021 and May 2022 also increased by about 40 points. However, what is even stranger is that her doctor doubled the dose of her statin in November. So, she took twice the amount of Lipitor (40mg instead of 20mg) that she ever took before, and yet, after Covid, her numbers went up, as shown in this table:

Both of us changed nothing else about our medication or lifestyle. Outside the fact that during Covid both of us were incredibly tired and we could not exercise as much as we wanted to, nothing else changed. And usually, for both us, diet or exercise don’t make much of a difference in the numbers as we both have FH. We’re both petite and with a normal BMI. 

I have not seen numbers as high as these for me for two years now, since before I added Nexletol (or Bempedoic Acid) to my drug regimen. 

I asked my cardiologist whether the increase in the cholesterol numbers could be from Covid, given no other changes or factors. He said “it might be, but if the change is as a result of having had Covid, the change should be temporary and the numbers should drop.” - there are so many “should”s and “might”s and “if”s in this sentence, aren’t there?! 

It’s all a guessing game for now. Time will tell - that is where we’re standing right now because like I mentioned in the beginning: there is little to no research on this (that I am aware). 

Now, it would be interesting to know whether those cases that the media is reporting where the cholesterol levels did go down were for people without FH. I have so many questions. For now, I can only report what I have seen in our family. Drop a line if you have more information, please! 

Much health! 

Update: Two months after my elevated levels, my cardiologist repeated the cholesterol test and the levels came down to 164 mg/dl for the total cholesterol and 101 mg/dl for the LDL. The LDL was even lower than before I had Covid.

Genetic Tests Are Not All Alike

I recently submitted a sample to 23andMe.com for genetic testing. My main reason was to find out if they find any genes present that might cause diabetes, Alzheimer’s disease, breast cancer, and others, but I must admit the ancestry report is also fascinating to review. 

My sister also submitted a sample about two months before me. Although both of us have been genetically tested for FH with medical tests ordered by our specialists, and we have both been formally (genetically) diagnosed with FH (I am Homozygous version and she is Heterozygous), both of us received a “Variants not detected” result from 23andMe for FH. They do disclose on their site that there are over 1000 genes responsible for an FH mutation and they only test 24 of them, so it’s understandable that they would not always find the variant one might have. As a matter of fact, I guess they most likely will not find a mutation. 

I was tested by Ambry Genetics about 5 years ago, and if you want to review their testing principles and approach you can find more information here (https://www.ambrygen.com/providers/genetic-testing/13/cardiology/fhnext#:~:text=Test%20Description,genes%20associated%20with%20familial%20hypercholesterolemia). 

I am not giving them a plug, by no means: Ambry Genetics happened to be the provider of genetic testing that my cardiologist worked with at the time I requested the test. There are other providers out there and your doctor might guide you through the process. 

My sister was tested in Canada, and I don’t know the name of the company they used because apparently doctors there are not as transparent as those here, in the US. Her cardiologist just informed her that her genetic test came back as confirming the FH diagnosis. 

The cost for Ambry genetics was $500 and it came out of my pocket, although requested by my doctor. The cost for 23andMe was $200. I know a lot of folks who order a 23andMe test kit because it’s wildly popular and available and the cost is much lower than a specialized test. But just wanted to share that you need to look into the principles of testing and the scope of each one to understand the results and not take them as absolutes. 

Hope this is helpful.