Counting My Blessings, After 10 Years ...

The menu:

• Aortic valve replacement with an On-X mechanical valve
• Ascending aorta and aortic root replacement with a Dacron graft
• Aortic arch endarterectomy and aneurysm repair
• Endarterectomy and bypass grafts for 4 coronary arteries, including the left main coronary artery, the left anterior descending (the LAD, or widow-maker) and the circumflex arteries. 

Additional mandatory procedure: 

• Circulatory arrest (look it up!) 

The date:

• February 11, 2016

The duration: 

• 13 hours

The place: 

• Provo, Utah - the Utah Valley Regional Hospital

The result:

At least 10 more years on this side of the dirt. 

Those who know me well will tell you that I don’t lie. This is not because of any moral high-ground prerogative that I have set for myself. The reason for this is simple, to me: I have been told since I was 8 years old that I will die young. And I have never wanted to go before every single person I ever met knows exactly what I think about them, or about this world. I want to go in truth and leave people with the real me. 

Ever since I was 8 years of age and my own mother read my cholesterol in her lab and discovered my FH diagnosis, I have been given more expiration dates that I can count. 

First, I was told that I would probably not make it out of my teens. With sky-high cholesterol and no treatment available, this was the only outcome. Then, it was that I would not make it past 25. And then, because I did make it past 25 but I moved to America where people are afraid to make predictions so you won’t sue them, they stopped giving me an expiration date, but being used to moving the target, I kept giving myself one. 

From one health event to another, I made it to 40, when I had my open-heart surgery that you read about above. And that made me stop and think: is this it? Will this scary, big surgery kill me? Is this now the end? What did I have to show for myself for the first 40 years of my life? And was it going to be all over? Will I never get to see my nephews grow up and graduate and marry and have children, or what will come after this big precipice to allow me to finish all I am planning to do here, on Earth? 

I told my husband the night before my surgery that I just feel it in my heart, and in my bones that I would come out of the surgery and I have a lot more life to live after that. I felt that God had put me on this planet to accomplish a lot more than I did in those 40 years. 

On February 11, 2016, I had no idea what February 12 would bring me, I had no idea what kind of body I was going to be left with, but I knew my heart would continue to beat ... Don’t ask me why and how I knew that. I just did. It was  a force bigger than me ... And a lot like faith: you had to just kind of believe it was true, as you could not find solid proof for it. 

I made it out of that scary 13-hour surgery, so I crushed another expire date. My surgeon promised right after surgery that “it was going to be up and at ‘em from then on out”. I was mortified. I could not sit up the day after the surgery, I could not eat and my legs were made of jell-o. It was not going to be “up”, I knew that for sure. But “at ‘em”? No way, no how. 

But I learned quickly and I have been learning all these years that he was right. I have learned that there is something inside me, or something from outside of me, or both that gives me strength and patiently puts one of my feet in front of the other for me, and every day, in baby steps, I move on. 

10 years later now ... and I still wonder sometimes: what will eventually kill me? 

I have had many scares during this time - many scares that made me go “uh-oh. What if this is it? What if this is the end?” And yet, this invisible strength and force heals me and keeps me breathing. Keeps me ticking. Keeps me here. 

There has been a lot of fear. A lot of emotions and scared moments: 

The first time I seriously cut my finger right after surgery, thinking I would bleed out (from blood thinners), I thought it might be over. 

The first time that I had to go to ER because my heart was beating erratically, I was so dizzy I could not stand up from a chair (at work), and my blood pressure was very low. At the ER, they gave me a bag of potato chips to elevate it. Honest to goodness, true story. 

The second time I went to the ER a year later because I had some sort of chest pressure with a cough and the Urgent Care doctor was too afraid to weigh in on it because, you know ... you’re a heart patient, it needs to be investigated further. I cannot ever have just a “normal cold” or something ... If I have something remotely related to my chest, doctors step away and call cardio for a consult, or an echo, or a CT! 

The one time I fell literally on my butt on a jetty at Fort Fisher, on the North Carolina coast, on sharp, rocky asphalt mixed in with seashells that cut me open in 1000 places, full of algae and muck, it ripped my thigh wide open, scraped raw and thought for sure some flesh-eating bacteria will get into my blood stream and eat around my mechanical valve and that’ll be the end of my heart and of me, for sure. I watched my symptoms like a hawk for a couple of weeks, because I was sure something poisoned me through that massive open-wound. It was a good thing it happened during the Covid years and I had my car full of sanitizers, alcohol bottles and disinfectants - I poured everything I had on my leg to make it back home to some gauze 2 and half hours later. 

The Covid years were absolutely unbearable! Every headline placed me at the top of the risk-scale for severe Covid and death. We stayed sheltered and masked for way longer than needed, probably, (I still do mask in certain places) because I thought this will surely kill me. My heart won’t be able to handle it. 

But I lived through 3 bouts of Covid and I have been incredibly lucky to have no heart side-effects (that I can tell or that anyone can tell yet) from it. Just a chronic cough that no one can explain, but everyone seems to point at Covid (of course) to be the cause of it. 

In the past few years, I have been diagnosed with heart failure. All the damage that very high cholesterol has done to my arteries is finally catching up with me. I have accumulated more discomfort, more symptoms and consequentially more drugs to treat this. But I am moving on and managing it, insisting to have a full life and live like I still have another 50 years ahead of me. Because I might. Every day is a challenge and every doctor’s visit is a struggle. But it is all worth it and more! 

Two caths and three cardiologists later (from my surgery), I still learn something new about my heart every single year ... But I am not gone. I am still here. Still believing and truly feeling that it’s not my time yet. Not even close. 

I look back and I see so many challenges, so many crooked roads, so many bumps ...

I have learned how to live with an ever-changing heart. My heart is still a mystery to me but what I know is that it is a living, moving, living organism that changes and evolves - with disease, with age, with stress - it changes, and morphs into a new organ almost daily ... I have learned to listen to it, and although I still don’t know what exactly it’s saying, I know better when it’s not well and is asking me for help ... 

I have learned so many more things than I ever knew before the surgery about how else it can break - with every new symptom (erratic heart beats, high blood pressure, shortness of breath, exhaustion like I have never felt before, palpitations), I learned that one more thing might add to my heart condition. 

I am happy that I have lived long enough to see efficient treatment for my Homozygous FH. My cholesterol is the lowest it’s ever been now and from what everyone tells me, all the scientists and doctors, there is not much more cholesterol adding on to my arteries. But my heart is still seeing new symptoms from 40+ years of this white fatty mess clogging up my arteries. Because the damage has been so extensive, there is no immediate reversal of my heart disease, unfortunately. But it is not who I am. I am just a person with heart disease. I am not the disease.  

A heart patient will always be a heart patient, they say, but in my world, a heart warrior and guardian will always be a heart warrior and guardian ... So, we fight, and we stay vigilant. It’s a full time job that we get better at by doing ... 

I often wonder: have I made these 10 years count? I am grateful to my incredible, gutsy surgeon for doing so much to not only save me then from dying but save me again, and again, every year after that for building strength into my heart and arteries to last me ... well ... my lifetime, such as it is ... But have I made his efforts count? Have I made this time count for me, for the world, for those who matter most? 

I run through my head often all the many things that happened after that day, 10 years ago, and take toll. 

I have moved across the country again and also driven myself across that country. All 2000+ miles of it ... I have taken road trips all the way into Canada and seen two more continents I never saw before. 

I have been here for my family for all the milestones - my nephews graduating various school levels, even high-school, getting girlfriends, learning how to drive; my sister going back to school, I have been here to see my sister become an artist, and I have finally had a career as a writer - my life-long and childhood dream. I loved pens before I knew what they do. 

I have been here to celebrate my dad’s 70th birthday. I have been here through his passing and my entire family’s completely falling apart while trying to cope with. God sees what we don’t, and He knows I have more strength to share with others who don’t  in times like these … I am glad I did.

I have been here for my mom’s rapid transformation into the shadow of who she was before, when her best friend, her lover, her everything left her alone and unconsoled. I have been here for all her pain and all her estrangement and all the losses ... I felt her pain just as hard, my heart only knows how hard, but I have felt glad that I was able to be here, every step of the way. I would not wish it any other way. 

One bright shining light in my journey has been that I have been given the chance to advocate for people like me in these past 10 years. I have humbly become part of The Family Heart Foundation’s family of ambassadors and I have met and made friends with people like me (I knew no one like me before my surgery, other than my own family members) while sharing my story with so many others. I hope I helped at least one person ... 

I have published articles about my American life in a hometown magazine back in Romania, sharing the cultural differences and surprising similarities between my two worlds ... I have learned through this that I have so much more to say. 

I have been here to see my sister turn 40, mother in law turn 80 and my husband turn 50. I have been here, next to my husband, for all the job losses and friend losses and friend gains, too, such as they are ... We bought a new house, we found new doctors, we coped with new challenges, together - and my heart is still ticking ... 

The crowning personal (or should I say selfish) accomplishment, I think, besides just still being able to breathe and live the life I want to live, is having been to Africa ... This might not be something I shared with the world, per se (although it did change who I am as a person and how and what I share with the world), but it was a private accomplishment that transformed me more than anything else before. 

You hear so many quotes about how traveling to Africa is a reset for your world and that is only just an understatement, only scratching the surface ... Everyone should go there at least once to get in touch with who we truly are at the core of our being. When civilization and complications are stripped, we remain as we are - pure and infinite ... There is so much richness to replenish in ourselves in this very journey! 

The day I turned 50 opened up with the most spectacular sunrise of my life, under the African sky - and this is when I told myself: I’ll stop counting and stop giving myself aleatory deadlines ... The end is not mine to know. And as I did 10 years ago, I truly feel it in my bones that I still am called to be on this side of the dirt for a heck of a lot longer ... Things are not settled yet, and my heart is not done telling its story. 

Over the years, I have been pushing boundaries, despite all the physical obstacles ... I keep telling myself: if this life is so short, I wanna do what I wanna do while I can still do it. Altitude bothers my heart, something awful - so bad, that we had to move back to sea level. But I love the top of a mountain, so I push. When I climbed (by gondola) the 11,000 ft Hidden Peak at the Snowbird Resort in Utah after my surgery I truly felt like I conquered the world. 

I climbed on my own two feet The Ensign Peak in Salt Lake shortly after my surgery ... It is only 5,400 ft, but even 2,000 ft bothers me ... but I did it, slow and steady - best view of Salt Lake City! I got dropped in the middle of the African Bush with not so much as a human establishment anywhere to be seen from the plane, for hundreds and hundreds of miles, much less a hospital, or emergency room, or even the specter of a doctor. I did it - and I felt free and unbelievably lucky! And I cannot wait for more ... Little by little, I find that I am not thinking so much of death anymore. Just life. Death is a given. Life, we have to work at it. 

Today, 10 years later (happy birthday to my brother in law whose birthday is today and whose day I will forever share as my rebirth; still sorry I ruined a birthday for you 10 year ago!), I still have no idea what’s ahead, I still have (on paper) a very sick heart, but I am more convinced of our resilience and strength and ability to push through barriers, boundaries, and bumps than ever before ... I am convinced of our sheer stubbornness to live ... I am firmly planning on living. Definitely not planning on dying. 

My mom always says “dying is not that easy.” And she is right ... I am nowhere near ready for that ... 

I never thought I'd call any man an "angel" but here are the two that are responsible for my life: my wonderful surgeon and my one-in-a-trillion husband. Thank you to both!

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!