The Importance of Advocacy

It’s been a roller-coaster of a year, so no wonder I have not visited this site since August. But I do hope to fix that in the coming months (I hope I didn’t just jinx myself). 

I tell you what: it pays off to be stubborn!

I wanted to write a word about the importance of advocacy and most importantly, the importance of advocacy for yourself. I have written quite a bit about this. In fact, if you do a simple search for “advocate” or “advocacy” on this blog, you’ll be able to find quite a bit on this subject.

There is no one in the world that knows your body and you better than yourself. You should always advocate for you. What I have found out after 41 years of being an FH patient is that doctors will fall into roughly three categories:

1. They will have no clue what to do with you. They will shrug and tell you, “well, this is genetic, so there is not much we can do to fix this. It is what it is. Go about your life as you normally would.”

2. They will have a god complex and declare that they know exactly what to do about it and they will apply all treatments “by the book”. Or so they say: they will start with changing your lifestyle, your diet, your exercise routine, then they will give you the drugs they have available, start with the least “scary” ones perhaps (like a bile sequestrant or a Zetia - both that trap the cholesterol you get from your bad diet into your GI tract), then with statins, if you’re lucky, and maybe they will add some other drugs when those won’t work. They will expect each drug to work according to its literature and with what they learned in school. They will expect each drug to have exactly the side effects listed in the paperwork that comes with them. If you bring on your own side effects, and if your numbers don’t match the predictions on the prospect, they will ask you if you’re taking them according to the right schedule, or if you know how, in fact, to inject your own drug (in the case of injections), etc ... They will just assume you’re doing something wrong, instead of having the wisdom to know that you are unique and each drug should work uniquely to every individual, instead of knowing that any drug is not a “one size fits all” experience.
   I call this category of doctors,  “doctors that treat me by the book, and never look at me for the unique individual that I am with a unique make-up and history". They think they know, but what they know is a template. This is the most dangerous category of doctors, I think, and they can do the most damage. 

3. Finally, there will be the doctors who both know what they are doing and listen to you as an individual. They look at your unique case and treat you according to your type of elevated lipids, according to your body type, family history, and medical history and sensitivity to drugs and other things. This category is rare and you’re lucky to find them. 

In all these cases, however, the specialist remains the same: you! Although they can be  the guide, you should be the specialist and you should work as a team of equals. You know how your body responds to new medicine. You know whether your body takes lower doses or is slower to respond to a medicine. You know how much you can take of what. And you should feel empowered to guide them, as well. 

Here’s my case. I was diagnosed with FH when I was 8. I have seen all the specialists you can see that (typically say that they) can manage this disease (endocrinologists, lipidologists, cardiologists). Since 1983, I have been on almost all medications that have been available on the market since then till now. No matter what the drug paperwork says, I can tell you with mathematical accuracy that: 

• Niacin absolutely makes me nuts. The flushing is so intense, I literally feel like I am about to die burning in flames. And no, there are no secrets or tricks for me that work to actually make it possible for me to stay on it. Not for me. 
• Bile-acid sequestrants make me gag and give me terrible stomach acid. I do believe this has caused and even chronicisized my GERD, although I stopped taking this type of medicine in my teenage years.  
• Zetia gives me gas so painful I want to punch something. When I first started taking it, I cried myself to sleep at night, it was so intense. I got used to it over time, but it took years. 
• Nexletol upsets my liver enzymes and elevates my uric acid. The elevated liver enzymes are only casually mentioned in the literature and for a relatively small percentage of patients. They also say they will come down over time. I took Nexletol just fine for a couple of years and only after that, they started climbing.
• Outside of the cold-like symptoms that Praluent gave me in the beginning, it is virtually side-effect-free now, after 8 years and it did the most good for me until recently when a yet newer drug worked even better. But not before I had to fight for it with two cardiologists. 

This year, as you might remember, I changed my cardiologist (who also manages my cholesterol). The old one took over two years to figure out how to give me access to Evkeeza, a new infusion drug especially approved for Homozygous FH patients. In the end, he failed, and although I had a long history of seeing him, I left and found a new doctor. 

The new cardiologist describes himself as not only a lipid, but also an FH specialist. He has lots of patients on LDL Apheresis at the only LDL Apheresis center in my state (I believe). When I walked into his office my total Cholesterol was 307 mg/dl and my LDL was 238 mg/dl. At the time, I was taking Lipitor, Zetia, and Praluent. I came to him because I had wanted to try Evkeeza (https://www.evkeeza.com/s/) since 2021. 

The cardiologist told me he would prescribe Evkeeza for me but that will not be enough. He insisted that I need to wrap my head around apheresis (which I have refused to do even before my open-heart surgery and before getting a mechanical aortic valve which are making it more hard now to get a port) and I will absolutely need to only take Evkeeza to supplement a weekly apheresis treatment if I want to see my LDL anywhere near 70 mg/dl (which is my target). He said with Evkeeza alone I could maybe get as low as 110, but never around 100, much less lower than that! 

He told me that approving Evkeeza would be lengthy, because of the prior authorization process, but in the meantime, he could schedule me for apheresis right away. I think I spent an hour in his office trying to explain to him that I will not, under any circumstance, do apheresis - it’s a matter of personal choice and I have said “no” to it for close to 30 years. He insisted that he will be the first doctor who will crack this stubbornness and will get me to do it. I left on a promise to think about it, but only after he would help me to do the minimum of 6 months of Evkeeza treatments and proved that it won’t bring my numbers low enough. 

His office was better than he gave them credit for, and they approved my Evkeeza almost right away. I started the infusion almost a month to the date from my first appointment with him. The drop in numbers was immediate. After just one month of treatment, my LDL dropped to 100 mg/dl. (remember when he insisted that even after a full treatment of 6 months it might just get closer to 110, but definitely never lower?). After 6 months, I am at 75 mg/dl. And this is with no Ezetimibe (which he discontinued because he now believes Evkeeza works better than expected for me) and with half the strength of Lipitor that I was taking before (I was taking 80 mg when I saw him first, and I am taking 40mg now). 

At my last appointment he said: “You convinced me. I am not ashamed to admit that you were right and I was wrong. You proved me wrong. And I thank you for it. No more talk of apheresis. You proved that this new drug works.” 

I, of course, have no merit in this, other than I just wanted to try a new treatment. I know that drugs work for me. I have seen them working at various efficiency levels. I have met a lot of folks on Evkeeza who describe LDL levels of 50 mg/dl. Even people with HoFH with higher levels than mine describe unbelievable results. I didn’t know if it would work this well, but I knew I wanted to try it. I am glad I didn’t let my guard down and I didn’t sign up for apheresis like the doctor so strongly pushed for it.

There is nothing wrong with apheresis per se, of course, but it is just not my personal choice. There is a certain trauma and invasiveness that I associate with apheresis and I would rather avoid it at all cost, if possible. There is a certain commitment to it, and I travel too often and too much to commit being tied to a hospital bed for at least half a day every week. Now that I am very concerned with clotting and infection (because of my mechanical valve and my blood thinners), I do not want a port implanted anywhere in my body, unless there are literally no other options. And I truly wanted to try something less invasive (if you can call a once a month infusion “less invasive”) that could actually work better for a longer period of time than a week. I just knew my limits and what I can and cannot commit to. And I knew my body. Praluent worked so well for me, from the beginning, that I knew another “new” drug might too. 

The mechanism of each of the drugs I was taking at the time is completely different, but I have just seen that newer drugs do work better for me. So, I wanted so badly to try it. And I am glad I pushed and held my ground. 

And of course, I am lucky and grateful that I found a doctor who would actually listen to me. He did dig his heels a bit in the beginning because of his many years (probably as many as my whole life) of what he perceived to be a tried-and-true treatment that he is very familiar with and with which he has seen results, but my perseverance won out. It’s a two way street - and I am glad we met in the middle. 

My new cardiologist has a favorite phrase when we discuss treatments and numbers and drugs. He often congratulates me for my knowledge of FH and treatment options (most of my knowledge comes from self-teaching since the internet is such an exhaustive source of information now), but also from following and advocating for the Family Heart Foundation (https://familyheart.org/) - their webinars and knowledge sharing of the newest findings in treatments is invaluable) and then he says “we’re on the same page”. 

I am glad that about this treatment we finally managed to meet  ...  on the same page. 

My most recent numbers, after 6 months of Evkeeza

Cath #4

Here we are again... A new cardiologist, a new medical system, another cath. This one was as much a test for the new team to familiarize themselves with my long-standing coronary artery disease, as much as my need to understand whether the new symptoms that I have been feeling and some of the bad blood test results that I have been receiving were because of new blockages in my coronary arteries. 

Since my first cath, when I was 30 (hard to believe that was almost 20 years ago), all the cardiologists I have seen have told me that my coronary artery disease (CAD) is so advanced and my cholesterol is so far from my target that the only reliable way to know for sure whether my arteries will need intervention, before a major event would happen, would be through a cath. They almost all recommended that I would have a cath every 5 years. 

The previous cardiologist that I had until earlier this year (for 6 years) was too nervous to do a cath at the 5 year mark because he said with the amount of artery disease that he was sure  I had it would not be prudent to have a cath, to not “dislodge something” (his words). 

But my cardiac symptoms have continued to change and not for the better. 

For a couple of years now, my shortness of breath has worsened. Even when I do light chores around the house, like carrying a laundry basket the 20 or so feet from my bedroom to the laundry room, I am breathless. My BNP (which, in layman’s terms, is a measure of the degree of heart failure your heart is in) has gone up to 700 pg/ml (normally, the target is under 100 pg/ml), but it has been fluctuating, too - anywhere from 200 to 700 pg/ml. 

My chest pressure is more intense when I exercise - not necessarily only in my chest, but my left arm, shoulder, shoulder blade and the left side of my neck all go numb and they feel like someone is stopping circulation to them or strangling me. It’s a scary feeling and it happens virtually every time I go for a brisk walk, climb even a small hill or walk in the heat. 

My blood pressure has worsened but I am controlling it better now with a drug that (finally!) works, after months of trial and error with many new and old drugs. 

Typically, even when they don’t recommend a cath every so often to determine CAD, they do recommend a cath when your symptoms or your heart blood tests are worsening. But even with all these changes, the previous cardiologist refused to do another cath. 

The new cardiologist agreed that it would probably be beneficial to do one. He skipped the stress test with contrast because he said we already know I have CAD. And whether the stress test comes back perfect, inconclusive, or modified, he would still follow it up with a cath. Somehow, through some kind of magic, he got the cath approved with the insurance (they typically want a less invasive and cheaper test before they approve the cath). 

After the procedure, right leg still flat, but ready for the IV to come out.

So, off to the cath lab we go. Everything went according to plan, and it was great to report that there is not much change in the status of my arteries since the last time they did the cath with my previous team, 6 years ago. 

The main findings were:

• the LAD (Left Anterior Descending, aka “the widow maker”) is still at 50% blocked, but that is open enough to not require any intervention at this time. All the segments of this main branch are listed with “no significant stenosis”. Since this artery irrigates pretty much the entire left side of your heart (which is “the pump”, responsible for sending blood to your entire body), this artery is the workhorse of the heart. So, it’s good news that, although it is diseased, it provides accurate flow to the heart. He made no special mention about the bypass graft for the LAD which was put in place 8 years ago when I had my open-heart surgery. The cath I had 6 years ago does not speak about the LAD graft/ bypass either, although it mentioned other grafts (I had four arteries bypassed) as either being open or completely occluded. 

• the Left Circumflex artery shows “no significant” stenosis in all its segments. 
• one of the Obtuse Marginal arteries (which irrigates the upper part of the heart and is one of the branches of the Left Circumflex artery is between 80-90% blocked. The bypass put in place when I had my surgery is completely (100%) closed. 
• there are two other arteries (the Left Posterior Descending and the Right Coronary) that are described as “small”, but without any mention of any disease. 

Their overall assessment is that, indeed, there is “existing advanced coronary artery disease” (the doctor even called it “aggressive”), but that at this time nothing requires an intervention and the disease seems to be stable from 6 years ago. 

This new interventional cardiologist (my regular cardiologist is not an interventional one, so he does not perform caths or any other procedures) was the first doctor that did not advise to keep getting caths every 5 years. He said to only get one when symptoms change. Which ... is relative, in my book. Like I said above - the symptoms have changed. However, the cath did not seem to reveal anything new. So, while I am thrilled that there is no new or more severe disease, the questions of the causes for the new shortness of breath, increased chest pressure, higher blood pressure and a higher level of BNP still remain. 

The cath lab doctors did recommend increasing one of my blood pressure medicines (Amlodipine) from 5 mg/ day to 7.5 mg/day, but I will wait to also chat with my regular cardiologist before I do that, as he prescribed a diuretic instead, for the same symptoms. So, I need to review with him my meds, my symptoms and my cath findings as he is more familiar with my larger heart condition than a doctor who saw me for 25 minutes in the cath lab. Making this decision to wait before making changes to my meds is something I have done often. I want the doctor with the most knowledge about me, about my personal case and history, about my extensive file of heart disease and hypercholesterolemia to be in charge of all the changes in my meds after we sit down and together explore the best approach and outcome. 

A word about the procedure itself: 

Everyone will tell you that a cath is not a walk in the park. It’s inconvenient, invasive, somewhat traumatic if you are intimidated by doctors and hospitals and needles; it’s kinda scary because it does come with risks, like any procedure and with side effects depending on the drugs they give you, or the treatment they might perform while you’re in the lab, or depending on how well the healing is going after you go home. But having done four caths, all at different labs and by different doctors, I am not scared of them anymore. 

You come to the hospital early (before daybreak, usually), you get into hospital clothes (all street clothes must go), you get your own bay in a long ward, complete with your own machines, a tv and a call button for the nurse. You get an IV put in, a couple of nurses and doctors come and take vitals from you and ask you about 10,000 questions. 

And then, they do some blood tests. Usually a complete metabolic panel (CMP) to look especially for infections or kidney problems, and I get an INR which shows whether your blood clotting number is normal. Four days before the cath I had to stop my blood thinner medication (Warfarin) so that the femoral artery that they access the heart through can heal after the procedure. They look for kidney problems because they use dye. You must have healthy kidneys so your body can flush it out after the test is done. Sometimes they give you saline through the IV after the test to speed out the elimination of the dye. But they didn’t do this this time. They just told me to drink a lot of water after I leave. 

After the tests and the interrogation are over, they wheel you in the cath lab which looks like an operating room that you see in the movies. They put you on this table and there is a huge TV next to you, where they will see your arteries. They usually give you sedation to relax you and so you won’t care about what is going on. But every time I have gotten a cath I have insisted on not getting sedation, because I want to be aware of what is going on and be able to speak with the doctors about the findings as they see them. This time was no different: I got no sedation and the nurse said he did not hear of anything like it. “What do you mean no sedation?” The recovery time is shorter if you get no sedation. 

They give you some local anesthesia at the top of your leg, in the groin area, and then they make a tiny slit in your femoral artery through which they insert a sheath through which they will insert catheters of various calibers that will go all the way to the arteries of your heart. You have a small X-ray-looking machine above your chest that I am assuming shows pictures of the catheter going through the arteries on the big TV screen. Once there, they inject dye and they look on the screen to follow the flow of the blood through the arteries. 

I had two doctors this time - one was the attending (he mostly supervised and shouted out the findings) and the other one was a fellow who actually performed the procedure. The attending spoke with me the whole time. 

Although you do get a local anesthesia, you do feel some sort of pressure while they maneuver the catheter inside the femoral artery. This cath was hands-down the most painful of all the ones I have gotten. But I still didn’t ask for any other tranquilizers or anesthesia. It was over in 30 minutes. 

After the procedure, you have to rest flat on your back for an hour, after a specialized nurse removes the sheath from your artery and applies massive pressure to stop the bleeding. After an hour of lying flat, they let you lift your head and recline, but you still cannot bend your leg for an hour. After that, they want you to walk around the long ward. After another hour of paperwork and advice on what to do home, you leave. I was at the hospital at 6.30 AM. We made it back home around 2 PM the same day. This was the first time when I did not leave the hospital in a wheel chair, but they told me that’s because I didn’t have any sedation, so the risk of being dizzy or unstable was very small. However, I do have artery disease, something could have been dislodged or cause a blockage or clot in the wrong vessel - but they didn’t seem too concerned with this. 

In the end, I am glad we did the cath. It put my mind at ease somewhat that no new blockages are formed and the heart still looks like it’s working normally and doing its job.This has been a life-long, constant, 24-7 job - to keep my heart clean and running. Just like the heart never rests, I never rest in babying it as best as I can. 

Between trying to keep my cholesterol as low as possible with whatever I can, following up with all the appointments, having a huge open-heart surgery at 40, where I had massive work done to clean out my sick arteries, replace my valve, replace my aorta, keeping my weight under control, learning as much as I can about FH and heart disease, learning to listen to all the symptoms, always fighting for the right care for me, switching doctors, traveling when needed, learning how to eat a clean diet, even when the whole world tells you that a diet won’t make a difference - all of these and more contribute to being here and living a full life, for me, at 49. This is so many more years beyond what my original prediction was when, at 8 years old when they diagnosed me with FH, the life expectancy that I was given was somewhere between 10 to 15 more years, at most. 

I am grateful for it all and most importantly for the thousands of people who constantly look for a cure. For the thousands of gutsy people who have FH and who participated in many clinical trials so we can get better drugs. And for some brilliant people that have been on my side. I have always felt like an experiment with this disease. And I am beyond the moon that the experiment has been successful thus far. I am also grateful that all my 4 caths have been planned procedures. I would hate to be wheeled into the cath lab in an emergency while having a heart attack. Things would look a lot different then, I am sure. And a lot of people out there find out what a cath is exactly like that. 

“Help. Thanks. Wow”

This past week I have had a “Help. Thanks. Wow” moment, to paraphrase one of my favorite writers, Anne Lamott. You might remember that I have fought and fought with a former cardiologist to get the Evkeeza treatment. I did that for more than two years, after which I had to admit that he was not right for me and we had to part ways. 

Since May of this year when I started with a new cardiologist who thought it was “criminal” (his word, not mine) to keep me away from a very effective treatment that would easily be approved for me when my LDL cholesterol was hanging out at 238 mg/dl (a continent away from my 70 mg/dl target), things have moved pretty fast: I have been approved for Evkeeza and I have already gotten two infusions - in June and July. 

This past week, it was already time for my second infusion. It went with a bit of drama, because it is me, and because I am never easy. The nurse asked me if I had any reaction after the first infusion. I told her that it was not a huge one but that I did have a massive headache that lasted for more than 24 hours. She was all worried that because of how this drug works it might cause a stroke (because of the already existing plaque in my arteries). 

Because the “massive headache” is not one of the “normal” side effects listed in the drug’s prospect papers, she needed someone to verify that it would be OK to continue with the treatment. So, she had to call my pharmacist, her pharmacist, my cardiologist, and I called my Regeneron contact - to ensure it’s safe for me to get the second infusion. After waiting for about two hours, we got all the clearance from everyone and she did the second infusion. 

Getting the second infusion, after the "drama" was over

I will need to remember that the protocol is always the same for each infusion: they will do a pregnancy test before every one of them, then they will draw blood ordered by the doctor. Because my liver has been super sensitive when I have added drugs to my regimen in the past, I always want to keep an eye on my ALT and AST values when I introduce anything new. The doctor had requested only a direct LDL cholesterol level and a lipid panel and I had to do some convincing that she always needs to order a liver panel, too. She eventually found a way to order a CMP (Complete Metabolic Panel) which looks at kidneys, liver, and some other things. 

They will do the lipid and LDL cholesterol every time, before each infusion, to see if the medication works. But she said I will need to talk to the doctor (which I did twice but it didn’t “take”, apparently) to also add a liver panel. We’ll try again. 

Later the same day, I got my results in MyChart and I just about fell off the chair I was sitting on when I saw them: my calculated LDL is now 100 mg/ dl (or my direct LDL is 96 mg/dl) from 226 mg/dl a month ago. 

The lowest value I have ever had was 107 mg/dl about three years ago and that was while I was also taking Nexletol, and it was more of a fluke because it immediately jumped back up to around 120 mg/dl . But I had to stop the Nexletol, because it was causing elevated liver values. After I stopped the Nexletol, the LDL went up to anywhere between 220-280 mg/dl (taking the outlier months out here, when it was even higher, in the 300 range). 

Please click the picture for a larger view

Given that this is just one infusion so far, I do hope that this is just the beginning of an ever-descending trajectory. I cannot explain the feeling of happiness and gratitude that I feel to see that I am moving closer to a “normal” range for something that has been deemed abnormal my entire life! 

I am grateful that I was able to switch doctors, and that this doctor understood the urgency of getting on this treatment and he worked so incredibly fast to get me to it. It’s a great thing when everything lines up. I am also grateful to Regeneron and to my insurance who are helping me pay for this. Although I don’t know how much the “shelf” price is for Evkeeza, I am positive I would not be able to afford it otherwise ... 

I am still in shock, but so elated. 

What I can tell you is this: never ever settle. Never accept “no” for an answer and always look for the right doctor, the right team who will partner with you to give you the best care! 

And just ... “WOW”! 

Much health, everyone! 

A Giant Leap for Me ...

My First Evkeeza Infusion

It’s been a long time coming. I remember hearing about this new drug called Evinacumab (or Evkeeza) sometime in the fall of 2019 when attending The (then) FH Foundation’s yearly Summit (now, The Family Heart Foundation). One of the HoFH advocates at the event was participating in a clinical trial for it. I was terrified, but I think the world of people like her who are willing to put their body through anything, to navigate the unknown or the little known, in the darkness, it seems, to give us all better treatments. My words cannot be enough to express the gratitude for such people! 

In February 2021, Evkeeza was approved by the FDA for use in the USA for adults with HoFH, in addition to other cholesterol-lowering therapies. Two years later, the FDA approved it for children also. 

Around May 2021, I participated in a brainstorming session that Regeneron (the inventor of Evkeeza) organized with HoFH patients and medical professionals to test their marketing materials for Evkeeza on us. Amanda Seef-Charney, a Regeneron patient advocate, said at the meeting: “We must listen to and learn from individuals who so intimately know what it means to live with a rare disease. Only then can we begin to bring meaningful change ...”. This stayed with me. It’s so unusual when we have this almost invisible, rare disease to actually feel like you’re being heard. 

My own cardiologist did not hear me, when I asked whether I could be considered to be treated with this new drug in July 2021 (https://livingwithfh.blogspot.com/2021/07/who-knows-more-about-fh-you-or-your.html). He had no idea what I was talking about and the reason I went to him in the first place (starting with 2018) is because he advertised himself as a cardiologist specializing in lipid-lowering therapies. By November 2021, he started to look more closely into it and researching what we needed to do in order to get me approved. It was not until December 2023 that I actually got him to prescribe it and get it approved with my insurance. My first appointment was set for some time in February 2024, but the infusion center of his medical system had not heard of the drug and did not know how to order it. I knew I had to change course. 

So, I changed cardiologists and medical systems altogether. I started seeing my new cardiologist at the beginning of May 2024. Today, June 11, 2024, I finally got my first infusion of Evkeeza. It’s been such a long time coming (it'll be 3 years next month since I first asked my previous cardiologist if I can be on this) that it feels surreal to even believe I got it! 

The prior authorization was approved in less than two weeks, and the appointment was secured in two more weeks. As it turns out, this new (to me) medical system has an infusion center right here, in my small town - I usually have to travel at least 40 minutes one way to go anywhere from where I live. But only 12 minutes for the infusion center. It’s like Christmas. 

The appointment was early this morning (scheduled for 8AM). It was the first time in my life that  I stepped into an infusion center. Most people there were getting cancer treatments, but there were other folks with iron infusions and some other restorative medicines. The place had about 8 chairs that I could tell and they were all full. It felt packed and tight. No one was wearing a mask, including the staff, but my husband and I were. 

They weigh you just as soon as you get in because the infusion dosage is based on your weight. Then, because I am considered a woman of child-bearing age and with all my reproductive organs intact, I had to take a pregnancy test which is a urine test. They cannot give you the infusion if you are pregnant. They also drew blood for cholesterol levels which my doctor scheduled in advance. 

After all that and after the IV needle was in, they attached the IV bag. I took a picture of my first bag like it was gold! I hope it works! 

The IV lasted exactly one hour. After that, I waited for another 30 minutes to see if I had any reactions to it - mostly because this was my first time and we didn’t know. We scheduled three more appointments after this, as they like to schedule in advance to keep you on the one-month schedule that this drug is given by. 

During the IV, I felt dizzy a couple of times, but it was hard to tell what from. I do get dizzy occasionally, pretty much daily, and this felt no different than my usual dizzy spells. I also had this taste and smell of chlorine in my mouth and nose which was bizarre but it didn’t last too long. I got light-headed a few times, also and this was new, but not unmanageable. 

I came home right after it and I am taking the day off to just take it easy. So far, I have not felt anything unusual except for some light-headedness, or rather heavy-headedness as I feel like my head is too heavy and swimmy ... I also feel random tingling in my lips and palms, but it kind of comes and goes. No hives (they asked me to look for this), no swelling of the mouth or tongue. I also have a strange mild headache at the back of my head. This is unusual (my headaches are usually in my forehead and temples), and I think it’s what gives me the heavy-headedness, if you will. But, again, it’s totally manageable. The side-effects of a Covid shot are 1000 times worse than this! 

My husband came with me today because we didn't know what to expect from this drug. But I am sure that going forward, I will just go in by myself, barring any new developments in my overall health.

The infusion nurse said they will repeat the blood tests (for cholesterol levels) at every appointment. I asked if the liver function will also be monitored and she said she doesn’t believe so, but to call the doctor and ask that they add it. I know that it takes a full course of 6 infusions (6 months) before we see the full effect of Evkeeza, but the first rung on that ladder is now behind me after today. 

During the whole day, I have been hearing my late dad’s voice in my head. When I was 8 and they discovered that I had “a very severe form of familial hypercholesterolemia” (my total cholesterol was 734 mg/dl), I remember him saying: “one day, far, far away into the future, when you’ll probably be old or even after you’re gone, they might discover some kind of a miracle drug that might cure what you have. But it won’t be for a while. And it might be too late for you.”

When I was 8, they also told me I will not make it past my 25th birthday if I was lucky. I have been looking for this drug for only 3 years. I have been looking for an efficient treatment that will stop the progression of this disease for 41. 

Today is a huge milestone for me, in my journey, to add to the string of all the other milestones throughout my life: the first day that they discovered that I had familial hypercholesterolemia (when I was 8), the first day I took my first statin, or the day I learned without a shred of doubt that I have homozygous FH (I was 41), or the day of my open-heart surgery (I was 40). This is yet another milestone. What I hope for with all my heart is that this drug works. That it works so well that we’re done searching for more therapies. I hope that dad’s dream will be fulfilled and that, in fact, it’s not too late for me ... 

Supporting an Organization with a Heart

Please read and, if you are able, consider making a tax-deductible gift (or buy a shirt) to this amazing organization. The fundraiser is still running until June 15, 2024.

I thank you deeply in advance! 

Imagine that you are a child  and you are 8 years old. Your parents tell you that you have this thing in your blood called “cholesterol” and you have way, way, way too much of it (about 7 times more than everyone else).  They talk to you in terms in which you can understand: “Honey, you know how grandpa cannot walk because he had that brain accident (a massive stroke)? You know how grandpa needs to check his blood levels every month and his blood pressure with the machine every day? Do you know how he will get to spend all of his days in bed for the rest of his life? Well, you have the same problem as grandpa. But all this happened to grandpa when he was 50. All of this and more will happen to you when you will be 25.” 

They tell you that you have a disease that gets passed on from generation to generation, called “familial hypercholesterolemia”, but that your kind of it is “much, much more severe and more rare” (“you’re probably one in a million people” - they say) than your dad’s, and your grandpa’s (dad’s father), and all of dad’s uncles and aunts. 

You don’t really understand, and you don’t really think that 25 is really that soon. You are 8 now. You got plenty of time to grow and be an adult by 25 and do so many things, go to college, even! 

Then, it gets worse: your parents are desperate and they keep taking you to doctors to figure out what to do with you, to treat you somehow. The doctors tell you not that you will be paralyzed like grandpa, but that you will be dead by 25. Others are even more grim, they foresee that you’d be dead by 18. 

And you feel special, in a way, like a kid would, but as you age you become more curious (not to mention desperate, too): why doesn’t someone do something to fix this? Are there any people out there that have exactly what you have and did they die at 18 or 25? Did they get married, did they have kids? How did they survive this? Anyone?! 

And for years, you don’t meet anyone who has what you have, outside your own family. But none of the people in your family are this “rare”, nor this “severe”.

For years, you don’t have access to all the new medications, because you either live in the wrong country, or you go to the wrong doctors who don’t know to give them to you. 

When you go to doctors and you tell them that you have “familial hypercholesterolemia”, they write down “genetic dyslipidemia” which confuses the heck out of you - but they don’t have the right disease name in their medical records, so they use what they can. You have a  disease that is so rare, there is not even an accepted proper name for it .... 

Over the years, I had to find my own way through the maze of various drugs most of which didn't work, and the armies of specialists that tried to treat me but most of whom failed. But then in 2016, right after I had my 13-hour open-heart surgery which fixed my heart after the cholesterol had wreaked havoc on it for 40 years (getting on some treatment in my early 20s allowed me to cheat death and I made it kicking and screaming into my 40s), I learned about The Family Hearth Foundation. 

This is where not only did I learn more than I had ever known before about my disease, but I also met my tribe - people that not only had “familial hypercholesterolemia”, but people who had the same form of the disease (the “more severe and more rare” kind), the “one in a million” people. I have learned from them how they have lived and treated it. I finally learned the proper name for my disease (“homozygous familial hypercholesterolemia”) which taught me that not only my dad but also my mom has this disease - something we didn’t know till I was 40. Learning about genetic testing through the resources at The Foundation, I asked my doctor at the time to allow me to be genetically tested and the result of that lead us to my mom’s diagnosis, and later to my sister’s and nephew’s diagnosis, too.  

I learned about treatments that are designed for my disease particularly and I have learned from others how they felt after following the different treatments for it. I learned about the side effects, the do and don’t, the gotchas for each treatment. I learned how expensive, or painful, or full of side effects they are. This was gold to me - having a real-life connection with people like me.

Through the association they have with specialists, medical professionals, researchers, geneticists, the Family Heart Foundation provided me with science and facts about my disease. Through their membership and community reach, they have given me a family - people like me who are fighting to survive every day. Listening to their stories, meeting them would not have been possible without the open forum that The Family Heart Foundation provides tirelessly through their Ambassador programs, through their Summit events, through their HoFH gatherings, through their webinars and interviews, and through so many more resources. 

They save lives by advocating for things like early screening of all family members, they save lives by finding the right medical resources for people that are newly diagnosed and don’t know where to turn.  They educate family doctors, nurse practitioners how to diagnose patients early so they can prevent major events like heart attacks and strokes which are the most common complications from unmanaged cholesterol levels. Ultimately, they have fought for our disease to be recognized by the proper name: through their tireless advocacy, we finally got an ICD-10 code of our own in 2016. So, now we are real. In every way.

They even bring together small, confused little children  like I was, that go through tough treatments at an early age and they build a community for them and their parents, too, so they would feel less alone and less confused. 

FH is often an invisible disease until something terrible happens. It is estimated that one in 250 people (and someone in their family, too) have it and yet about 70% of these people don’t know they do. Some of you have four or five times more Facebook friends than this, so you do the math. The Family Heart Foundation won’t  rest until every person is diagnosed and has a plan towards health, if they choose to. 

It is because of all this and more that I support The Family Heart Foundation every year. I am proud to be an ambassador for this organization that gives such hope to droves of hopeless individuals who are scared and lost when they first learn their diagnosis. 

Words can never express how grateful I am for everything they do and for the appreciation I have for  the impact that they have had on so many of us, including on my own family. 

Thank you! 

Here’s the link to their current campaign, if you would like to support a cause that saves lives and builds hope.