With All Due Respect ...

Don’t get me wrong. I absolutely and whole-heartedly respect the medical profession. Simply because I am convinced I would not be here today if it had not been for some incredibly talented, intelligent and ultimately extremely gutsy doctors, nurses, and pharmacists that took the time to learn and educate me about a rare disease that was only known in a few elite circles of the medical literati. I want to make this clear, before I go on my rant below ... 

But there are many times, a lot more than I would like to count, a lot more than I would expect as a patient struggling with a complex disease that cause more disease every year,  where I do have no choice but to not trust my medical professionals and it’s not because of me. It’s either because of their ignorance, unpreparedness, or because of the insane, profit-driven medical world of today that simply does not allow them to allot the proper amount of time for me, or to stay on top of their research to know what treatment they should have me follow. 

I landed on this article (https://www.nbcnews.com/tech/misinformation/doctors-say-medical-misinformation-gotten-worse-survey-finds-rcna225804)  a few months ago and I knew I was going to have something to say about it, but it didn’t come outta me until after a recent visit to my cardiologist and another one to my new vascular surgeon. 

The article talks about a survey that a nonprofit organization ran amongst doctors that found out things like “doctors said they encountered patients influenced by misinformation or disinformation a moderate amount or a great deal of the time over the past year”, and “doctors encounter pseudoscience in their everyday practice of medicine, and it indicates how their jobs are changing in response to a new information environment in which distorted health claims spread easily online”. It continues to state that due to the patients’ misinformation, the doctors feel that “it’s frustrating. It’s demoralizing, it cuts to the core of what motivates most physicians, and that’s a desire to help people in the most fundamental of ways. And in a way, it’s a repudiation of all the different things that lead people to practice medicine.”

Yet another doctor not related to the survey admits that “it’s too much to expect a physician or nurse practitioner, for example, to address complex, deep-seated beliefs in an eight-to-twelve minute consult”, and later admits that “sadly, sometimes our colleagues fall for the falsehoods, too”. This is all I will quote from the article. I am sure you can read it for yourself and form an opinion. 

Bluntly, this is what I would have to say, and I only speak from experience: doctors should not at all be surprised or feel “demoralized” or “frustrated” that people turn to social media or Google for medical information, because they cannot address all the patients’ concerns in the extremely limited amount of time offered to them for a consult by a system that enforces quantity over quality in the pursuit of the bigger profit. 

I have had cardiologists that admitted that they see 23 patients a day. In case you are doing math, this means about 20 minutes per patient, if the doctor takes no bio or lunch breaks, no breaks for meetings, email answering, or additional calls for referrals and additional consultation, during an 8 hour work day. This simply is not possible, in other words. 

I have a rare disease with an extremely complex set of diagnoses: I have homozygous FH, coronary artery disease, tachycardia, arrhythmia, atherosclerosis, a mechanical aortic valve, heart failure, diastolic dysfunction, carotid stenosis, mesenteric and celiac ischemia, fatty liver and gall bladder tumefactive sludge, just to list the main ones. There is no time in the whole 8-hour day for a doctor to advise me on my symptoms, my course of treatment, and my complications from all these. Not to mention there is not one specialist I need, but several.

I have no choice but to go to Google and ask about my concerns, or even the interactions between all my medications that the various specialists throw at me. 

To complicate the landscape, doctors are so incredibly specialized nowadays that they cannot see (or refuse to see to save time) what the other specialists do. They often operate in a complete void.

Very often in my career as a patient, I have found (from my own research) that a doctor would prescribe something that would either hurt another part of my body already affected by disease, or conflict with another medication that another specialist prescribed for another affliction. None of my doctors, even the good ones, look outside their own boxes. 

But what is worse, the one thing that made me go “oh, please, docs, cry me a river” when I read this article was something more severe and something that has been bugging me all my adult life. The one thing that makes me personally turn to online information (which I agree is not always reliable but it at least gives you the illusion that you get some answers) is the fact that I cannot find the answers in my own doctors’ offices. 

So, the doctors can say all they want (at least those surveyed) that they are  frustrated and demoralized because people walk in with bad information, but the truth is - we, the patients, sometimes have no choice. Last week, I walked into my cardiologists office and after the recent tests that he did - a holter monitor that I wore for 2 weeks, and a referral to a vascular surgeon that yielded results from an abdominal CT that showed a worsening of my mesenteric and celiac arteries, in addition to a history of worsening blood pressure and pulse measurements, worsening shortness of breath and angina - his question to me was: “All right, what kind of imaging tests are you interested in pursuing next?”. 

If I had not had 42 years of experience with medical professionals, I would have fallen out of my chair. But this was a too-common question that I have unfortunately heard from multiple physicians. 

I am not an ageist in the least - I have had young medical professionals that are up on the newest technologies which I can appreciate, and I have had older ones that have a more wholistic approach that I love, and are into the business of actually touching the patient to find symptoms and listen to the body (the heart, just like the lungs tells you things when you just listen to it; but few docs do it anymore). This particular cardiologist was an older gentleman, which might incline someone to think that in addition to many years of medical education he had experience on his side, so he should know the next steps for the course of my treatments. He deferred it to me. 

So, where is a patient in my case supposed to turn for answers? How am I supposed to know what imaging tests would be the most appropriate for a correct and reliable diagnosis? The only place I have is somewhere online and who can verify the accuracy of those results?

I deferred it to him by saying “the educated, wise kid in this room is you, doc, so I defer it to you to know what test to do next that would give you the most accurate picture of what is going on so we can come up with the best plan for treatment.” 

He decided against more tests and instead he did what many of my doctors do - threw more pills at the problems ... I’ll try them and see where this will lead ... We'll reconvene in May and reassess the symptoms and go from there. Maybe. If he remembers what my complaints were to begin with and what tests he has done so far. 

It’s all trial and error. Unless I stumble upon a thing online that might sound pertinent and then I am sure I can pitch it to him and he’ll order it ... reliable, accurate or not ... Maybe?! 

Days after this appointment, I met with the new vascular surgeon who had ordered a peripheral artery study (which always comes out perfectly fine and she should have seen the results of the previous one in my chart, because my cardiologist in the same practice did an identical one just 2 years ago and it came out perfectly normal, but people don’t read anymore, so we’re forced to repeat tests 10,000 times if needed - more inconvenience for us, more time off from our lives and more money for them) and an abdominal ultrasound - which, to my uneducated brain is a lesser-accuracy test to an abdominal CT with contrast that the same cardiologist in the same practice ordered only 5 months before. The results for the ultrasound were almost identical to the CT done 5 months prior, and they showed a worsening in my celiac and mesenteric stenoses and an increased post-stenosis dilation than the year before.

When I went in to meet my new vascular surgeon and go over the results, she acknowledged my disease but she brushed it off with the (in my humble opinion) ignorant statement of “well, yes, you have disease, you have HoFH, so this is expected, but I look at you and you look perfectly healthy. So there is no immediate action.” 

I just about came unglued, as I always do when I hear this statement because HoFH as well as many heart conditions are invisible, but history shows us, not any less deadly than many other extremely acute afflictions. And I told her with all the honesty, tact and well-managed frustration that I could muster: “This is where you lose me, doc! This is where I have to tell you: I do believe my disease is not unimportant or un-worrisome, just because I manage to look good. This is not a professional assessment, with all due respect.” 

And again: I know what I saw in the test findings. I know that things like “stenosis” and “dilation” are bad, in the context of atherosclerosis, arterial disease, stenoses, HoFH. And yes, I know this because I Googled it! And not only that - I know this because I saw what it did to many people in my own family who also “looked good”. They “looked good” until they had a stroke that left them physically changed, impaired or dead. 

But where do I find the correct interpretation of results? Who can please connect the dots between my constantly worsening symptoms and the findings in my new tests, when the doctor simply says “yep, tests  - bad; you - look good. Go home and live your life”?! Where can I find objectivity and education when the doctors blow me off?! 

Naturally, I turn online because that is a convenient resource that at least pretends to know it all! But where can we, the patients, find the authority who can parse through the information for us, and educate us not only about a disease in general but about our particular case of the disease, so we can feel like we have a handle on it and can live healthy and successful lives? 

And one more thing: I have had doctors, doctors with a reputation that preceded them, that have pulled up Google in their office with me present to see “what else they need to do next” for me. 

I am guessing with the explosion of AI nowadays, things will only get dire. I very often use Google primarily (which has always been “powered by AI” but now it needs to be branded this way) and quite often I am mindful of the findings. Because oftentimes, I have no choice. 

So, what gives, I ask you?! We insult them if we go online and come in with false information that our limited knowledge and desperation cannot parse through, but they insult us by dismissing our afflictions or deferring us to make decisions when they should be the ones with the knowledge?! 

What gives?! 

An Ultrasound and a Little FH Education

Happy New Year, everyone! 

I cannot believe I am starting my 15th year of blogging about FH. I started this to share my journey (the tests, the diagnoses, the ups and downs, the successes and the failures) with those people who might find out for the first time that they have FH. My commitment was that if even one person finds the information here useful, it is worth my time to share my stories. Over the years, I have heard from many folks that this has been so helpful to them, and that they either learned about a new way of managing their diagnosis, about a new test, or a new medicine, or that they just felt a little less alone. My job is done, really, but it is your merit as much as mine. Thank you. 

This is one of those stories - where I share yet another event from my everyday life and hope that you find it useful. I have an abdominal vascular ultrasound scheduled every year, to monitor the progress of my abdominal aortic ischemia - both my superior mesenteric and my celiac arteries in my abdomen have several stenoses where the blood flow is severely reduced. As of last year, one of the stenosis has developed a dilation which is (the way I look at it) a precursor to an aneurysm. We don’t want aneurysms on any blood vessels but especially not on any major artery branch, like the aorta, celiac or mesenteric arteries would be. I also have a narrowing in my abdominal aorta. 

A simple visual of where these arteries are located. The main trunk is the abdominal aorta.

This test is usually ordered by my cardiologist. I have seen vascular surgeons before, but since I changed my cardiologist in 2024, this new person decided it’s not bad enough for me to see a vascular surgeon yet, but that he is able to read the results and determine if one is needed at any point. Since my massive open-heart surgery in 2016, the sentiment of all the doctors that I have seen for my arterial disease has always been that “it’s bad, but not quite bad enough to do something.” The “something” would be a repair, or a stent, or a balloon, or a bypass of some description, for example. 

Last year, for the first time, they actually saw the dilation. I asked the cardiologist if this was not worsening badly enough that it would grant seeing a vascular specialist (usually a vascular surgeon). At the time of the appointment (in November 2025), he said “No. Not bad enough, but next year we’ll definitely see one if it looks any worse, even by a little.” All right. 

And then, about 2 days after that appointment, I got a call from his office that in fact, he does want me to meet with a vascular surgeon as soon as I can. All right. I totally agreed because in fact I had wanted this for years. So, long story short - I got an appointment with a vascular surgeon and she ordered an abdominal ultrasound which happened today. 

I just do as I am told, and got the ultrasound like a good little patient, but for years, I have done abdominal CTs for the abdominal ischemia. So, I was a little puzzled why they asked for the less in-depth, lesser-visibility test, but hey, I am no doctor. So, I went in. 

As she silently watched my messy mess of abdominal stenoses (I am sure!), the technician asked a lot of questions about why I was there, how come the doctor ordered this test and such. I explained to her about FH: your body’s genetic inability to process and eliminate surplus cholesterol. I also explained to her that it’s not from eating a bunch of burgers all day long, but it is just from this weird anomaly in your genes that you are born with. I mentioned that this is genetic and inherited from your parents. I explained about the more common version of this disease (the HeFH) when you inherit just one bad gene from one of your parents, and the less common one, when you inherit two bad genes from both of your parents, and I mentioned mine was the latter kind. This is why I have had the massive vascular problems since a very young age. 

She asked me if I had any history of vascular accidents in my family, any history of aneurysms myself, or any history of strokes and heart attacks. I told her yes on all accounts. Lots of examples. I also told her about dad’s peripheral artery disease and many strokes including the massive one in his brain stem which took him out at 70. 

She asked more questions. So, I said “I am guessing they did not teach you about FH in your medical education?” She said: “You know, you would think that someone would have taught me about a disease that causes this much vascular disease since I am a vascular disease tech imaging specialist. But no, this was never mentioned in my medical education.” 

She said the first time she ever heard about FH was from her boss who found out about it from her dad. Her boss’s dad had passed from complications from FH and he didn’t know he had it. Her boss (I am guessing she might be a doctor? But not sure?) finally understood why her cholesterol had been high all her life and now is on proper treatment for it and she is working with her kids and grandkids to diagnose and manage this disease better with fewer events than she had witnessed in her dad. 

Then, the technician shared that her own husband, his dad and his dad’s mother also have had high cholesterol and both heart disease and liver disease (fatty liver) and she wondered if this could be FH. She mentioned that they did go to the doctor with her husband’s cholesterol levels because they are high, but the doctor told him to watch his food and exercise more. She said as a family they all changed what they ate, and now they eat less fat, more lean meat, exercise more, and she cannot even think what else she could change, but her husband is not overweight and his numbers are not coming down at all. She asked me “could the cholesterol be high for a different reason other than FH?”  Again, she is asking me something her doctor should have told them already. 

I told her that I definitely don’t have a medical degree but in my knowledge of FH, high cholesterol levels that do not drop with lifestyle changes plus a family history of heart disease (or stroke) usually means FH. Which means her small children will need to also be considered having their levels checked and run by a specialist, just to make sure. 

She asked if the only way a positive FH diagnosis can be established is through a genetic test, and I told her that generally a genetic test would definitely confirm it, but that those two things alone (high levels and family history) should be enough to get medication to see if the levels could be controlled better. I told her about The Family Heart Foundation and how they have a wealth of information on their site (I encouraged her to just google them and find out more) about where to start and they should be able to answer a lot of her questions. She said she has a pediatrician appointment with a blood draw scheduled for her children soon and she will definitely ask them if they could add a cholesterol check to it. 

One thing I noticed just today, after half a million of these ultrasounds and CT scans (exaggeration here, as you can imagine): every single time I go in to have these tests, they always ask me whether I am there because I had an event (like a heart attack, stroke, or a burst aneurysm). And every time I tell them that I have had some of these events (heart surgery, heart attack, plenty of family history of all of these), but that the reason I am there is so that I can prevent an event. I am there to keep an eye on the vasculature so as not to allow (if I all can) for an aneurysm to burst or a heart attack to happen. Mostly, I get blank stares and absent nods. I have told new doctors before that my philosophy with managing my disease is to prevent the fire and not to put out the fire when it happens. Some people grimace and move on and I can see the puzzlement, but I keep pushing with every doctor and every appointment for what I know to be right. I know because I have lived it. I am here today because I was able to fix my heart before it got a chance to explode on me. 

I hope what she saw in my arteries spoke about the seriousness of this disease. I explained to her that for half of my life I did not have access to any cholesterol-lowering therapies, and that this is what happens when huge amounts of surplus cholesterol just circulate in your body. She paused and then her questions poured out ... 

The results came back later today and I have a 70-99% stenosis in my superior mesenteric and celiac arteries and a 3mm post stenotic dilation in the celiac artery in addition to this. Also, my abdominal aorta is narrowed. This is the first time when they actually measured both the stenosis and the dilation. Until now, they described them as “mild” which over the years turned into “severe”. Now they are described as “severe” but we also have numbers. My vascular surgeon appointment is set for next week. 

Like with this blog - I hope I helped one person today. Or as it is the case with FH: I hope I helped a family. 

Take good care and here’s to a healthy 2026! 

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!