Looking Back at 2025

With every year, I learn something new. One of the few good things about having this rare condition called HoFH is that as science evolves, there is so much more to learn every year. I have known this my entire life, since I was diagnosed at 8, and nothing has changed. If anything, things have accelerated rather than stopped. For now, anyway. 

I am so grateful that in a world such as ours, of so much war and senseless brutality, there are still pockets of humanity, of science and interest to develop something new, and find cure and hope for people like me. 

I have said before that at various points in my life, I thought “all right, I know everything there is to know about FH and there are no tricks left to teach me” and yet, life and reality proves me wrong and I am ever so grateful for it, too! 

Some of the lessons I have learned this year were not always intrinsically  beneficial to my journey but I am happy they happened, because now I know more. 

I find that what we, as long-term, chronic patients, manage is not just our own disease, but a complex mix of several things: we become savvy not only in our own disease, how it manifests and where it all started, but we also become pros at navigating the intricate world of medicine, with medical guidelines, pharmaceutical discoveries, insurance availability or lack thereof, and more. 

There is a tangled web of multiple resources that are in the end controlling our life, and we become experts in it all, whether we like it or not. 

I will list a few of the highlights of this year. My LDL numbers continued to be some of the best in my entire life, for some of the time. In June, my LDL dipped to 58 mg/dl! At the time, I was on a combination of Statin+Ezetimibe+Praluent+Evkeeza and that proved to be the magic cocktail for me. That is the lowest I have ever seen my LDL. However, my insurance (Aetna) switched gears mid-year and now does not allow me to take Praluent anymore. They switched me, completely without my consent or my doctor’s approval, to Repatha. The logic there is that it’s “the same drug”. But as it turns out, it might not be the “same drug for me” once I started taking Repatha, in July, my LDL started climbing again. In November of 2025, my LDL was up again, at 108. 

I work with an Aetna nurse care coordinator that has been trying to help me advocate for switching back to Praluent again. My doctor also believes that I should switch back to Praluent. We have requested the switch and have been denied twice already this year. So, there you have it ... You are, I guess, at the mercy of either your medical team, or your insurance, or both, really ... It does upset me to know there are better, more efficient things out there, that are also clearly proven to work for me but that completely aleatory forces prevent me from accessing them, but this is the system. I met with a cardiologist this year who spoke at the HoFH Gathering I attended and he said “you always need the right doctor, the right medicine and the right system”. And it’s rare that they all align, from my experience. 108 is better than my “natural” 500 mg/dl number, so I’ll have to cheer for that! As a silver lining, the LDL level in December registered at 79 mg/dl ... So maybe November was an outlier?! 

I have met with a couple of genetic counselors this year which was a first. I have done genetic testing before (in 2016) but I have never met with a counselor. What I have learned from at least my meeting with them is that we, as patients, want to know more about how genetics affects us in our daily lives. They, as genetics specialists, can tell us how our genes got messed up (for lack of a clearer phrase) to give us the specific disease that we have. But their advice and interpretation does not go further than that. We would need to still take their research and findings to our clinicians to learn how to live with what our specific gene profile predisposes us to. I would have personally liked to know more about what exact treatments, drug-related, or not, I should take on, what remedies would benefit me, considering my unique genetic profile, but the genetic counselors did not provide that. 

The tests I took this year were provided by Helix and GeneDx. One certified a second time my diagnosis as a Homozygous FH individual. The other one ran what they called a Microarray test which analysed the whole genome chromosomal microarray (I hope to goodness I am not misquoting here) which looked at whether my parents were related. My type of HoFH shows that I have the same exact mutant LDLr gene duplicated, which might indicate that my parents are related to some degree. The GeneDx test proved that outside of that LDL receptor mutation that caused my HoFH, there are no other genes that are identical in my genome. This only makes my case that much more rare: it means that this very specific mutation which exists randomly in millions of people happened to be the ONE mutation BOTH of my parents had, independent from one another. And both of them shared it with me. 

One of the highlights of my genetic journey this year was meeting with a genetic counseling graduate student who had HoFH assigned as her genetic topic for a final research paper. It was great to speak about our disease, often so invisible, ignored, and discounted, to the next generation of scientists, if you will. During my lifetime, this disease went from being almost completely unknown to most doctors to now having its own ICD10 code (also achieved this year, in 2025), and being at the center of research and medical conferences. Teaching the new generations about our disease is one of the most rewarding accomplishments to me. 

In addition, I was happy to be the cochair of the Homozygous FH Gathering which was organized and sponsored by the Family Heart Foundation in October 2025, in Orlando, FL. I speak about it here (https://livingwithfh.blogspot.com/2025/12/2025-homozygous-fh-gathering.html) and I am still a little shocked that it happened at all ... That was another opportunity to learn from doctors, but mostly to learn from my community about the struggles and the achievements of people like me. It is a beautiful and meaningful event which I encourage everyone to attend, if they can. 

On a personal level, in addition to the ups and downs of my LDL and the treatment options for it, in addition to the many calls to the insurance company and Regeneron and navigating copay cards, and insurance changes, and all, I have also had an up-and-down year in my heart health. 

Although my artificial aortic valve seems to be doing well and my heart seems to be pumping strong (my ejection fraction sits at around 65 which is unbelievable considering the amount of damage my heart has had so far), my symptoms are preventing me from truly having a life as full as I would want it. The shortness of breath is almost debilitating some days and prevents me from the exercise and effort I would like to perform. My BNP number (that shows the severity of your heart failure) has gotten better, but the shortness of breath and even my chest pain has actually gotten slightly worse, or, at best, remained the same. My tachycardia which I thought was controlled well showed signs of worsening this year, as has my dizzy spells. I find it harder and harder to exercise for long periods of time and simple walking uphill feels impossible to do at times. 

I have been blessed though. This year, I have traveled on three continents, taken a total of 20 flights, visited a new country to me (South Africa), went on 5 road trips around our area (and many more day trips, too), and together with my husband managed three major house remodelling projects. All while working full time. One cannot possibly ask for more. 

I have seen one nephew graduate, go to junior college, get his driving permit, and open his first business, and the other get accepted in his school of choice after a fierce competition. My sister and I met at the HoFH Gathering and it was such a rewarding, bonding moment for us to be able to learn together about this disease we both have (she has HeFH and her youngest also does) and how to manage it. Caring for mom and spending one more Christmas with us has been the cherry on top. 

One of the greatest gifts of our time is to use technology to connect with people and stay in touch. When I take those connections into the real world, I find I build some of the most meaningful friendships. I thank my friends, you know who you are, that have been with me through the good and the bad days of my journey. Every one of you makes my days truly, and helps me be thankful for what I have and what brought you into my life ... Thank you for sharing yourselves and your own journeys with me. It truly means the world! 

As I close 2025 and end half of a century of  life, I step into 2026 with hope and courage that things are more possible now than ever before, that organizations like the Family Heart Foundation will continue to promote our cause and will help further research and knowledge of it. I can only hope and pray that truth will always prevail, that medicine will continue to be based on research and fact and that America will continue to keep its place at the front of it all ... I will do what I can to stay present and available for anyone that would like to hear my story. 

The sun never sets without the promise of another sunrise the next day. Looking forward to another day ... Hope for a happier, healthier, and more peaceful one for all!

2026 will mark 10 years since my open-heart surgery and I truly am in awe of how much I have learned in these 10 years, about myself, my heart, and about survival in general. I am grateful. 

I wish everyone a year of health and possibilities. Thank you for reading this blog and thank you for never giving up. There is no place to go but forward. Happy New Year! 

2025 Homozygous FH Gathering

Thinking back all the way to October, I could not let the year close before mentioning one of the greatest privileges I have been offered this year - to co-chair the Homozygous FH Gathering hosted by The Family Heart Foundation in Orlando, FL.

This was my second time attending the event (the first one premiered last year) and the first time being part of the hosting committee. To say it was an honor would be an understatement. An honor not only to represent a great organization, but also to meet amazing individuals from all walks of life and from all over the country that shared incredibly rich stories of survival and grit. 

I have known I had HoFH for 42 years now. When I started this journey, I was a unicorn. No, the term did not exist back then, but I now know I was: everyone, every medical professional insisted and was amazed at "how rare" I was and how people like me just don't come around every day of the week. I remember one doctor telling me that at the time there was only one case known in Romania (where I was at the time) in children, which was a 7 year old boy. And that was it. 

The fact that they told me that I would die before I'd reach 25 years of age paled in comparison to the fact that I felt so special to be so unique. 

And then, many, many moons later, zooming by my original predicted "expiration" date of 25, here I am at 50, not only making it, but being in a room with not one, but 17 wonderful "rare" people, with very similar journeys, just like me. People coming from all corners of the world, just like I have, and sharing their stories and learning from one another and feeling less lonely, I am sure ... 

The event focuses on creating a community for people like us, but also on educating and empowering by gathering medical professionals who come to speak about the disease, about what treatments are available and what new research is unveiling for the future. 

It is a 2-day packed event which offers togetherness, hope, and knowledge to a community that otherwise feels often forgotten. I always wonder going into these events if there is anything new that I could possibly learn about this disease, about our daily struggles and about how the medical world adjusts to meet us where we are. And every single time, I do learn new things. This is a treat. And the cherry on top is meeting the individuals who struggle with the same challenges as me and feeling just as special but also less alone. 

You can read my reflections here (https://familyheart.org/2025-hofh-gathering), on the Family Heart Foundation's website. 

If you have or know someone who might have FH or HoFH, I encourage you to check into this event and more form this wonderful Foundation that literally saves lives. 

Right before the gathering started, the first night of the 2025 HoFH Gathering

Repatha, Evkeeza - New Experiences and Numbers

As I mentioned in my July post (https://livingwithfh.blogspot.com/2025/07/the-end-of-era-good-bye-praluent-hello.html), my insurance decided to stop paying for Praluent and instead force me to switch to Repatha, the other PCSK9 inhibitor drug on the market. 

I tried to dissuade them to switch me, quoting concern for developing pre-diabetes (a known side-effect of Repatha) but I got turned down. Not sure by whom, honestly. The nurse at my doctor's office said originally that no, if they require me to be on Repatha, there is no going back to Praluent. Then, when I pushed with "but I have a very large, well-documented family history of diabetes and the doctor promised that he would support my case for sticking with Praluent", she shut me down almost immediately with "Well, we asked, but unless we try it and prove your sugar is going up, they won't budge." Doubtful. When did they ask? In the literally 20 seconds between her firm rebuttal and her mention of asking? But sometimes you choose to not fight every battle and give it a shot. 

I had other concerns too, that Repatha might not be as effective for me as Praluent was, or that it might have other side-effects Praluent never had. I also wondered if Repatha might, in any way, interfere with Evkeeza, my infusion drug for HoFH. 

I still don't know if it does or not. But since July when I switched to Repatha, I noticed a couple of new things. First, Repatha is not as painful to inject as Praluent was. Maybe the needle is not as large, or maybe the amount of the drug is not as much - I don't know. But it doesn't hurt as it goes in. However, it hurts a lot worse than Praluent after it's in. The injection spot hurts for a couple of days after I take it and my entire leg hurts for a few hours, too. Sometimes till the next day.

I am not sure if this is Repatha or not, but since I switched to it, my LDL numbers went up first, and now, after about 3 months they are just starting to come back slowly. But is that Evkeeza or Repatha's doing?  

I was told that I'll see the full effect of Evkeeza at about a year since the start of the infusion. After a year and a month, my LDL was the lowest it has ever been in my life, at 58 mg/dl. Just think about this, for a patient with HoFH that comes from an LDL of close to 600 mg/dl. But then, right after I added Repatha, it starting going slowly up. 

After I started Repatha, I also noticed a change in the side effects I feel after the infusion. I have always felt tired the day of the infusion and the next day. For about 24 hours, I feel like I have mild symptoms from taking a vaccine or something. I was used to this. But after starting Repatha (my pharmacist thinks it might be related), I also started feeling very hot and tingly while the Evkeeza solution goes in my vein. And about 48 hours after I take the infusion, my sense of taste is altered. A lot of things taste rotten or putrid. It's like some people report from having Covid. Even my favorite foods, like fish and potato chips taste bitter-rotten of sorts.

I mentioned this to the pharmacist who works with my cardiologist and ordered these prior-authorized drugs for me, and she said there are certain things they can try: they can give me benadryl before the infusion or they can slow down the infusion. 

I chose to skip adding yet another drug to my limitless cocktail, so they increased the time. They used to time it for an hour, and now it's timed for an hour and a half. The hot and tingly feeling is much reduced, if at all present. The taste alteration is still there after the infusion but not as long-lasting nor as strong. 

I still cannot quite tell whether the change in symptoms to begin with was from any or all of these drug changes or just a coincidence? Nor if the adjustment made any difference or that, too, might have been just a fluke. 

The truth still remains that I am still very scared of what Evkeeza might do, apart from truly keeping my LDL levels low. The drug definitely seems incredibly potent for LDL cholesterol, even as stubborn as mine has been historically. But it just got approved for kids as young as 1 year olds (look it up, please!), so here's  hoping that they have enough strong, pertinent research to make such a groundbreaking decision (some countries don't even approve statins for kids under 18 and we feel like we know everything there is to know about them) . I am also scared of Repatha too, because it is relatively new (only 10 years old) and it's new to me. So, I am sure there is a lot more room to learn here.

For now, I am enjoying the lower numbers, hopeful that they will protect my arteries for a little while longer. I am also happy so far that my sugar has not increased, yet. Still watching it like a hawk, though, and asking for a test for it every chance I get. 

My levels as of October 2025
Click the picture to see a larger view

“Heart Sisters”

Heart disease is not something to muck about with ... Sometimes, you live with it for a very long time, and sometimes you have no idea you have it until it’s too late ... The silent killer as they say ... 

I knew I would have heart disease one day because of my FH diagnosis at the age of 8, and because my doctors were savvy enough to know the potential damage that the cholesterol was causing my arteries would eventually end me in the operating room. If I was lucky. 

Because I knew the risk, I could watch my heart over time and see the progress of the disease before it was too late to do anything about it, and luckily, before it caused an event like a heart attack or cardiac stop ... 

I met many heart patients on my journey with FH and heart disease. I have met so many special women, especially, that have gone through so much more than me. I feel connected through some invisible thread with all of them. We are all different and all alike in some ways. And in many ways, we get each other at a deeper level. 

The one thing that you’ll learn when you’re an open-heart surgery patient is that no two journeys are alike with this disease and with surgery. We all have different thresholds of pain, we all have slightly different surgeries, and we all have different anatomys. Two heart-valve surgeries are never the same: mechanical valve vs bio valve; aortic valve vs mitral valve; one valve surgery, vs multiple valve surgeries; valve replacement vs valve repair; bypass surgery vs endarterectomy; stent implantation vs bypass surgery; aneurysm repair vs aorta transplant ... 

Surgeries can last 2-3 hours or 10-13 hours. You can come in and out of anesthesia or you can feel like you took the longest nap of your life and not remember a thing. Some people see “a bright light” while they are on the heart pump machine, others see nothing. Just peaceful sleeping ... Some feel like they left their bodies and are looking down on their surgeons from the ceiling, other patients think this is all imagination and too many horror movies watched... 

How we heal, how fast and how well, and what life-long side effects we are left with (because there will always be those) are all different from one person to another, too ... 

We are taught, as heart patients, to never look at others’ progress in recovery and wish we were them. To just focus on us, to be in tune with our own bodies, to listen to them, and to focus on getting our own bodies better ... 

And yet, despite so many differences and nuances because we are all different people, there are so many similarities between heart patients ... The scare, the dread of being opened up, the pain, whatever its level, the up and downs in the ICU, the nightmares, the confusion, the low pulse followed by tachycardia, the high blood pressure followed by deadly low numbers, the lung damage, the dreaded spirometer challenge (Gosh, I hated that thing!!), the experimenting with pain killers (one minute you want to OD on them they are so good for pain, the next you want nothing to do with them ‘cause they make you lethargic or make you throw up) - I have experienced all these and so have many of my heart patient friends ... 

I have been lucky to be close to my friend Kate, that I met through the website of a heart valve surgery support group during my surgery and the subsequent recovery, 9 years ago. We are of similar ages, and have known for a long time about our heart disease. We have been pen pals (do people even know what that means anymore?) ever since. We exchange notes and horror stories about doctors, frustrations with our recoveries, and complications from our continuous disease, but also successes and small victories (that are monumental to us). 

Kate is also my hero and my role model because she has had open-heart surgery now three times ... She just got out of her third one, to replace both her aortic and mitral valves. Although I have coronary artery disease and valve disease and she has multiple valve disease (this is the difference), our journeys have been very, very similar in a lot of striking ways (this is where we are alike). 

She just left the hospital today, after 12 days for this third surgery and she sent me a picture of her leaving the hospital. My heart jumped when I saw it. Because this was almost exactly the picture my husband took of me when I was leaving my hospital after my surgery 9 years ago. The resemblance simply made my heart skip a beat ... And all those similarities between Kate’s and my journey came rushing back ... 

2 August 2025 - 19 February 2016

All I could think about is: WOW! This is THE picture! This is the picture one takes after they survive the worst - hugging the heart pillow and smiling, high on the notion that we are still walking the earth with foreign materials in our chests forever and God knows what else ahead of us. Smiling because we’re alive. Because we cannot believe we’re breathing and on “the other side”. 

I am sure everyone will see something different in these pictures. But what I see is all the similarities that bring us closer together as time goes by. That heart pillow alone and how we're clutching to it - it is your survival security blanket; it helps you breathe without pain and the only thing that stabilizes your (still) very "crunchy" chest that feels like puzzle pieces not yet glued together.

Kate, too, like me, knew she had bad valves quite early in her life, in her late teens. And she stuck with it, too, and she watched it and she did something about it before it did something more awful to her  ... 

I also see in this picture both of us surviving despite the many shitty prognoses; surviving despite the inability to tell yourself one more time “it’s gonna hurt; it’s gonna be hell, but I gotta do it to live to see another sunset and get another kiss from my cat (or dog), to live to jump on another plane one day to see my earthly paradise (we all have one), far, far away, to make love one more time; gotta do it!” ... 

We’re both still weak in these pictures, we’re in the passenger seats, we relinquished the reins, we are being cared for (how lucky is that alone?), and we are weak-looking, but there is fire behind those eyes and there is resilience and there is grit. 

I am sure she’ll have stories to tell after her third visit in there, going through the deep, deep darkness of literally being put to death and then brought back again. This is how I feel when I look back on my surgery: they literally stop your heart that has no blood going through it for a while, and then they magically make it beat again. The next thing you know, you walk out of the hospital and you go home with a new lease on life ... Sounds simple, and trust me: both for Kate and I, this journey from when you go in till you get out felt like at least 10 years ... But that smile says it all ... 

When it comes to life’s challenges, open-heart surgeries are quite up there in kick-butt-ness, in my book. Every surgery has a risk, sure. Every paper cut can give you a lethal blood infection. But there are few things in life for which you have to die (like open-heart surgery) to get better... And we did it willingly. Thank goodness we knew ahead of time that we needed it ... And thank goodness that for heart disease there are ways to manage it. 

I can’t think of anything more humbling than being sick and coming back to life. I can’t think of a more character-building experience than going through what Kate has gone through, not once but three times ... She is not 50 yet ... 

The title of this blog belongs to Kate, hence the quotes - this is what she said when she saw these pictures: “Heart sisters foreva”. I could not agree more, and I could not feel more honored and proud to have her say that ... We may be different people, we may live 2000 miles apart, but we have this invisible bond that connects us across miles and time zones, and although every muscle hurts different for her and I, our hearts still beat to keep us alive, despite the different kinds of ordeals that they have endured, despite the different number of times they went silent. Our hearts are ultimately stitched up and broken just the same. And that will connect our lives and our stories forever ... 

Speedy recovery, my favorite warrior and welcome home! And I’ll leave you with the advice my own surgeon gave me 9 years ago, the day after my surgery: “It’s up and at ‘em from here out!” I have no doubt about it! 

The End of an Era: "Good Bye, Praluent. Hello, Repatha."

I have had a long, sinuous, adventuresome path with PCSK9 inhibitor drugs. 

A complete unknown when my FH was diagnosed 42 years ago, a dream or a vague promise for most of my adult life, they have become the drugs that probably extended my life, right along with my very invasive open-heart surgery 9 years ago. 

I remember around 2009 or so, the pharmacist that worked with my cardiologist at the time in Greensboro, NC, shared with me that there was this clinical trial on the horizon (not available yet) where they would test this new class of drugs, called PCSK9 inhibitors, and he thought that I would be a perfect candidate for signing up for it. But as a rule, I don’t want to participate in clinical trials. As a rule, I accept taking a treatment only when it’s been officially approved and only if there is no major impact on the quality of my life. 

Well, PCSK9 inhibitors were not approved, so I said no, however promising their clinical trials were at the time. Then, around 2011 or so, the same pharmacist went through some hoops to find my new information as I had moved to Utah and contacted me to share that they have a clinical trial in Salt Lake City that would allow me to participate. A couple of years or so later, he said they were seeing really good results with these new drugs for FH patients, and to please consider participating. He said he could contact the clinic in Utah on my behalf to give me a referral, but I politely declined again. 

At the time, my LDL levels were still dangerously high, going up and down between 250 and 300 mg/dl, although I was taking cholesterol-lowering drugs that were on the market at the time; but they were not enough. I still said no, I would not consider this but I was absolutely stunned that he remembered me and he went out of his way to find me and share this news with me. 

Fast-forward a couple of more years, and at the end of 2015 (the year when Praluent was finally approved), I was told that I needed pretty much emergency surgery to replace my severely stenotic aortic valve and to ultimately have several bypasses of blocked arteries. 

My surgery was performed in February 2016 and both the surgeon and the cardiologist sat me down very sternly and explained in great detail what intensive damage my very high cholesterol had done for the first 40 years of my life. They both encouraged me that if there is one thing I can do for myself, for a healthier life, and to ease the impact of cholesterol on my arteries, was to keep the cholesterol levels, particularly, the LDL, as low as possible through any therapy I can tolerate. 

My cardiologist at the time had been involved in the PCSK9 clinical trials in Utah, so he was very familiar with the drugs and with FH. He asked me to please consider these drugs as now they were approved and my LDL cholesterol was nowhere near normal. 

After seeing the results of my surgery and living through the really hard and lengthy recovery from it, as well as developing even more heart disease, I decided to start taking a PCSK9 inhibitor drug at least for 6 months or so to see if it truly would impact my levels so dramatically that it would be worth it in the long run. 

My cardiologist prescribed Praluent which I started taking in April 2016, about 2 months after my surgery. 

After the first month, my LDL dropped from 260 to 184. After 3 months, in July 2016, my LDL was 104. I was shocked! There were virtually no side effects. On the day of the injection and a couple of days after I had a runny nose like I was about to get a cold or like my allergies would act up. And then there was nothing else. I asked the cardiologist what made him choose Praluent over Repatha as both were available at the time. He quite simply said: “It was a coin toss! Either one would work. I just went with Praluent.” 

I have been happy with Praluent. Outside of the inconvenience of taking a painful injection every two weeks, worrying about keeping track of the schedule (easy to do with any calendar app), and ensuring I’d pack my injection pen when it would be due while I was traveling, it did wonders for my cholesterol levels - so all the challenges were small prices to pay to ensure my arteries would stay clean. 

My LDL target is 70 mg/dl. Praluent did not manage to lower my levels to lower than the low 100’s but it was better than walking about with 250-300 levels. So, I knew this would be a life-long drug for me. My artery disease, especially in my carotids, has stabilized. My carotid ultrasound used to be worse from year to year up until 2016. For the past 9 years, they have been mostly stable with no visible sign of worsening. 

In 2017, I was called upon to write an amicus brief to defend Regeneron’s lawsuit in court against the Repatha maker, Amgen, who was looking to push Praluent out of the market. I gave the perspective of the patient on Praluent and spoke about how important it was for people to still have access to Praluent, in addition to Repatha for various reasons. 

For me, I don’t like the fact that there is a chance of Repatha increasing your blood sugar levels. I don’t have diabetes, not even closely, but I do have a rich history of diabetes in my own family - virtually everyone with FH has eventually developed diabetes in my family. 

I have now been on Praluent for 9 years and I have managed it pretty well. In a way, I got very comfortable with it and it’s one of those instances of “you’re not afraid of what you know.” Even if there was not much thought, not more than “a coin toss”, in my doctor choosing it for me, it’s become my drug. What I am used to. What I know how it will affect me, for good or bad. That is a level of comfort that I struggle with letting go of. 

But in comes the year 2025 when my insurance company sent me a letter to notify me that starting with this year they will no longer pay for Praluent and I absolutely must switch to Repatha. I was very, very disappointed. I spoke to my cardiologist (I moved back to North Carolina so now I have a new cardiologist) and asked him if he could speak with the insurance company to persuade them to still continue covering my Praluent because I was afraid that my diabetes family history might catch up with me and I don’t want to risk adding another condition to my laundry list of issues. 

The doctor preemptively agreed to talk with them. He actually asked his nurse to call and see what she could find out. The nurse was not very empathetic about it. She called me and in no ambiguous terms said that “a family history of diabetes is not reason enough to not take Repatha and that only proving that elevated blood sugar while taking Repatha would be considered a reason to revise the insurance’s demand for switching to this drug.” It was not clear if this was her opinion, or something she was passing on from the insurance company. She encouraged me to try it and watch my sugar closely and we’ll react based on that, if necessary. 

I also spoke with my insurance company to ask them if I could please stay on Praluent, given my long-time record of it working fine for me, with virtually no side effects, and considering I have a history of diabetes in my family. They said those denying to pay for Praluent are actually not them, but my employer. They also said from what they had seen this year, my employer refused to pay for several other medications and from what they have seen from patients pushing back, they have not been too successful to make the employer eventually pay for a “non-approved” drug ... They said I was free to put in a complaint with the employer but they told me to be prepared to be told “no”. 

So, I conceded and accepted my fate ... Starting in August of this year, I will start taking Repatha and this last week was my last injection of Praluent. It’s like saying goodbye to an old and trusted friend. I have no idea what this new (to me) drug will do to me, but I know enough about how sensitive I am to changing drugs and how every drug is different, although it’s in “the same class” to be a little nervous about this switch. 

Of course, the recent lawsuit that found Amgen guilty of essentially bribing pharmacies to only prefer their product over Regeneron’s Praluent (https://www.fiercepharma.com/pharma/amgen-hook-pay-more-400m-after-regeneron-triumphs-cholesterol-drug-antitrust-suit) gives me additional pause. 

But what can one do? This is one of those cases, I feel, that what is good for the patient, or what the doctor recommends that might be good for the patient, does not always jive with what the money-making industries of pharmaceuticals and insurance companies are willing to make available for the patient. It’s one of the most frustrating parts about dealing with a disease that cannot be managed without medications. It’s adding the burden of unaffordability or muddling through preventable side effects to the burden of the disease itself. It never feels fair or compassionate, in any way. The “do no harm” is definitely overlooked in situations such as this. 

The (small) silver lining I have seen, from what I have read so far about Repatha, is that the drop in LDL levels seems to be higher than the drop with Praluent. But will it mean the same outcome to me? Only time (and trial) will tell. I will report back. 

Yearly Carotid Ultrasound and New Numbers

Part of the FH and heart-disease journey is to familiarize yourself with a life peppered by doctors’ appointments. And yes, that is not a typo: there will be many doctors, many specialists, and many tests during a “normal” year of your life. 

Most of the time, I see these appointments as routine. I still chuckle when a coworker takes a whole day off for a stress test and is incredibly fearful when their doctor orders an EKG or a heart echo. There is no comparison in medical journeys, and I am going to be the first one to admit that.

But I only speak for me, now; and to me, these are “the easy” tests. In fact, I have met more doctors that agree that stress tests are a waste of time and money and they are seldom accurate or reliable. So, if they allow me the privilege to choose my test (which most of my doctors do, for whatever reason), I usually skip the stress test, and go for something more invasive even but hopefully more accurate. If, that is, my insurance also affords me this luxury. 

You will find sometimes that the insurance demands a lesser (even non-conclusive) test to be performed if it’s cheaper rather than approve a more costly but a more accurate test. No, the business of medical care, especially in this country, but we are not alone, is not a fair game. 

So, this month, it was time for my yearly carotid ultrasound. Ultrasounds are not invasive, by the way, and still believed to be the first in line for basic imaging.

The results of this test used to be a little worse every year back when my LDL cholesterol was hanging out around 250+ mg/dl. But since I started taking Praluent (in 2016) which brought my LDL down to 150 mg/dl (twice the target, but still much lower), the carotid ultrasound results have been pretty stable, or stationary, showing a buildup of plaque hovering around 50%. They have been so stable in fact, that some doctors argue that I don’t have to do this test every year anymore, that my plaque seems stable and with this amount, there are no interventions recommended. So, they say, we should move the test to every 2 or 3 years. 

So far, I have not been convinced that we should do that. I have seen cardiovascular disease go downhill in less than a year with FH, so I don’t trust my body that it will ever - regardless of how well the drugs perform - stabilize in such a way where I won’t have to watch what the disease is doing to me ... So, I insist we do the tests. 

Also, the impetus of my insistence on this particular test has been my symptoms. No amount of medical science and no amount of doctor “smarts” can convince me of something my own body flags as “not right”. 

For years, I have had numbness and tingling in both my arms, all the way down to my fingernails. It is worse with exercise and it is worse in my left arm. With exercise, my shoulder, and left arm, as well as the left side of my neck become numb, almost like a huge claw squeezes every bit of blood drop out of them! 

I bring these symptoms up with every cardiology (and vascular specialist) appointment and they take notes, but offer little in return. Others venture a guess of “well, that could be neurological”. And I did have neurological studies done to both my arms (I would not recommend them to my worst enemy) and although there were some findings (ulnar nerve neuropathy in my left arm and carpal tunnel in my right), the symptoms from these afflictions are different than what I feel when I exercise. The level and the place of the numbness is different, and the feeling of the “huge claw” only comes on with effort. 

Over the years, although my carotids have been more or less stable, some of my other arteries have started to see signs of more advanced atherosclerosis. Usually, they give me a percentage of the stenosis or plaque. This year, they spelled it in no ambiguous terms: “subclavian stenosis”. Not once, but several times in the test findings they emailed me. Some branches of the carotid artery (like the right external carotid) also appear stenotic, but the subclavian is pretty much stenotic, with no doubt. No other approximations or guesses of what the percentage might be. 

In full disclosure, these are the findings from the carotid ultrasound:

1. Left subclavian artery flow appears stenotic.
2. Right CCA demonstrates significant plaque.
3. Right ECA appears stenotic.
4. Right ICA stenosis less than 50%.
5. Right subclavian artery appears stenotic.
6. The Left ICA stenosis less than 50%.
7. Flow in the right subclavian artery appears stenotic.
8. Flow in the left subclavian artery appears stenotic.

**PSV is 125-180 cm/s & ICA/CCA ratio >2.0 is also consistent with 50-69% stenosis.

**Comments right side: PST noted throughout the CCA.

My doctor is yet to reply to all this. I will wait for another week or so and then reach out for more details from him, although I am not too hopeful he’ll recommend any course of action. I have been told time and again that without close to a 100% stenosis or an aneurism, there is not much they would want to do, regardless of the symptoms (which they are more than happy to just medicate, much to my dismay!), because there are too many risks involved in performing a bypass on the arteries or even more in adding stents. 

But this is why I insist on repeating the test every year: what if, from one year to the next, we go from "stable" to an aneurysm, or even a tear? What if, like this year, we go from “50% to stenotic”. 

In lieu of a doctor’s feedback, I, of course, turn to the internet. And this is what the Cleveland Clinic says about the symptoms for subclavian stenosis:

• Muscle cramps when you use the affected arm.
• Arm pain or tiredness when you use the affected arm.
• Tingling or numbness (paresthesia) in the affected arm.
• Dizziness
• Fainting
• Vertigo 

I have experienced all of them for years, except for the last 2. My dizziness occurs daily now. And most if not all of these are not related to ulnar or carpal tunnel neuropathy.

As I understand (and as I have lived) it, stenoses (many of them everywhere where there is an artery) are a byproduct of FH. Just the normal collateral damage that years of high cholesterol has done to your blood vessels. 

The little bit of a good news this month has been the continuing dropping LDL numbers (thanks to the new Evkeeza infusion which seems to be going well). 

I have to literally pinch myself every time I get the new values after my infusion treatment that shows my LDL in the two-digit range. As you can see, I come from a (“natural”) LDL of 520! I still cannot believe the LDL of 65 mg/dl is mine! I wonder every month if they got my blood mixed up with someone else’s. 

I cannot thank medical research enough for the advancements they have made during my lifetime. This disease that was nothing but a death sentence to me, when diagnosed at 8, has become something I can manage now. This is why it is so paramount that we encourage medical research going forward. It gives not only hope, but literal life to people!

The hope is that I am not adding more damage to my arteries by adding more cholesterol to what has already accumulated there for the past 45+ years. But there is plenty of damage done already and with an aging body and inevitable hormonal changes, I must still continue to stay vigilant and repeat these yearly routine tests, just to understand what is still going on and to have a chance to plan, if faced with an ultimatum. And as I have known several times in my life - ultimatums do happen ...

In this scope, regardless of doctors’ orders, I will continue to fight to know more and not less; to stay on top of every change and progression, such as it will be.