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

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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.