The Stroke Family

How FH Has Affected Four Generations of Our Family

When some people are first diagnosed with FH, they have a hard time believing that they must be on medication to ensure protection of their arteries. There are folks coming to FH groups in disbelief, asking “if I don’t take my statins, or some other therapy, will I really get a heart attack? Will I really get a stroke? Will I be young when these things might happen to me?” Wouldn’t it be nice to know these things regardless of our diagnoses? Life, unfortunately, doesn’t work this way.

I, for one, can only tell you what has happened to the people in my own family who lived with untreated FH. You can view this information however you choose. I am not making a case for medications one way or another, here. I am just sharing what we have been witnesses to as a family. From what I have learned in the past few years, the story of my family repeats, more or less, in every family touched by FH. So, I am adding my voice to the chorus of folks that speak from experience here, in hope that this will be helpful to putting things into perspective for some.

I’ll start by saying that I have seen FH in my family with my own eyes for four generations now. It started with my father’s father and it stops, for now, with my nephew who is almost 9. I have been the first one to be medicated for it, but I started treatment when I was 23. Because I have Homozygous FH, however, even with all the medication available, my numbers are still out of the normal range and you might as well consider me an unmedicated Heterozygous patient now. So, what happened to the generations before me?

I was 3 years old when my grandpa, my dad’s father, had his massive stroke. He was 53. Before then, he had a smaller one, about 4 years prior, before I was born. When he had his first stroke, they learned that it happened because of his cholesterol which was at that time in the lower to mid 300’s. His first stroke was not debilitating, but the second one was. At 53, he was left bedridden from this second stroke. Half of his body (I can’t remember whether it was the left or right) was paralyzed. He walked around the house with a cane, and he never left the home after that, till he died from his last stroke at 65. During the time he was sick, he had many mini-strokes. My grandma being a nurse provided around-the-clock care to him and brought him ‘back’, she used to say, ‘many times.’ By bringing him ‘back; she meant she was doing everything she could to exercise various parts of his body that were becoming weaker and weaker with every stroke.

During all these years that he was sick, his brothers and sisters kept getting older and sick, as well. Out of the 10 living siblings he had, he had 5 affected by FH. He was the sixth one. Out of the 9 people who have passed so far, four of them died from complications from FH (strokes and heart attacks) and two of them died from a combination of complications from FH and diabetes. All of them died in their 50’s and 60’s. For the most part, all their cholesterol levels were in the lower to mid – 300’s, so as far as we can suspect, they all had Heterozygous FH. Most of them, like my grandpa, were not overweight. Grandpa was this stringy man, about 6 feet tall and maybe 150 – 160 lbs. He had been a construction engineer and he spent all his life on construction sites. His specialty was mountain access roads, viaducts and tunnels. He loved the mountains and being outdoors. I learned from my dad that my dad’s grandfather, grandpa’s dad, also died in his early 60’s from a stroke.

My dad’s cholesterol has always been, as far as he can remember, in the upper 300’s and lower 400’s. Grandma, his mother, did not have high cholesterol at all.

My dad’s first signs that something was wrong was in his 20’s. He had heart palpitations, high blood pressure and very elevated liver enzymes. He was diagnosed with a fatty liver at that time and high blood pressure. He refused any kind of medication until he was in his 50’s. And even then, he only started taking medicine for his heart, never for cholesterol. Being of old school upbringing and in a country where little is talked about cholesterol and its management, he does not believe in any of the cholesterol lowering drugs we have available here.

10 years ago, the lower extremities of his legs turned pretty much black from poor circulation. He was 57. He went to see a vascular doctor who determined that his arterial peripheral circulation was extremely poor, and he should probably have surgery to insert stents in his legs to open up the arteries. At that time, his blood pressure was something like 200 over 150 – and it stayed this way till very recently. He chose not to have surgery because he didn’t feel like his heart was going to be able to take the anesthesia.

About 15 years or so ago he had a minor stroke. He had minor symptoms of a stroke and when he saw a neurologist they confirmed that he probably had a stroke. This year, he had a second one. He is 67 now. This time, he has little feeling in his arms and legs, barely feeling the pedals under his feet when he drives and not feeling too sure he can safely shift gears. He gets very dizzy and has fallen several times even when just walking around the house. He is very stubborn to press on and he drives the car in this state and moves about town although not daily anymore. He is taking new medication now for better circulation as well as for improved nerve function. His cholesterol was in the upper 300’s last time he checked, and his liver functions are very high.

Dad’s only sister’s cholesterol has always been in the upper 200’s and lower 300’s. She had stents inserted in her legs about 10 years ago and her lower circulation improved after that. She had a stroke three years ago, when she was 66 which visibly slowed her down.

Dad also has another cousin whose father was grandpa’s brother. She had a significant stroke when she was in her 40’s. Like grandpa, half of her body was paralyzed, but in her case only the upper part. Her legs are still mobile, but one of her arms, her neck and half of her face were very affected by the stroke. Like dad, she also has a fatty liver.

Weight does not seem to be a factor in this disease, at least not in my family. Dad used to be very skinny until way into his 40’s. Now, dad and his sister are overweight. But his cousin is a 5ft – 110 lbs. woman and has been even lighter in her younger years. As I mentioned, grandpa was never heavy. I knew two of his brothers affected by FH and one of them was skinnier than him.

As far as everyone has been told so far, all the events happened because of atherosclerosis caused by FH. 

We did not find out for absolute sure that my mother also has FH until I was diagnosed with Heterozygous FH thanks to a genetic test at age 40. Her cholesterol has always been in mid to upper 200’s and she always compared her numbers to dad’s and mine and she decided hers are probably because of a poor diet. She was not overweight till she reached her late 50’s, so she never really looked into any medication for cholesterol. Thankfully, she has not had any events yet, but she does have a calcified aorta and aortic valve. She is taking a statin now with Ezetimibe to control her cholesterol. Because her mother did not have high cholesterol, we suspect that hers came from her father. He died when she was 7 from lung cancer and her mother never kept in touch with his family, so we don’t know what FH did on that side of the family.

My sister’s cholesterol is in the low to mid-200’s normally, but now she takes a statin and has brought it closer to the normal range. Her 9-year-old son has an LDL of 148 mg/dl with a total cholesterol of 223 mg/dl. They live in Canada and although they measure his cholesterol frequently, they don’t recommend that he should take a statin yet. We try to educate him as much as we can and even at 9, he reads labels and knows what foods are healthier to eat. Neither my sister nor my nephew is overweight and they are both extremely active. My sister is 40 and thankfully has had no events so far.

Another FH “marker” are xanthomas, but just like the varying weight, they are not 100% present in all of us. Grandpa, dad, mom and myself all have had xanthomas, but my aunt, my sister and my nephew do not.

You know my history, or can look it up on this blog to see when my complications appeared and what my levels are … All I can say is that complications from cholesterol do appear. That is a fact, as far as I can tell from my own experience and that of my own family. The ages at which some of them may appear may vary from one person to another. I do believe lifestyle has something to do with how well you manage those complications. I had a pretty massive surgery and an MI after that almost 4 years ago when I was 40. But I manage to stay pretty active after all that. I think a healthy diet and staying active helped me bounce back as much as possible (never fully) from all that.

If I could share a piece of advice at all, I would say: know your numbers and your heritage, learn from previous experiences and read the research and the testimonies. Always remember that there are not two people alike. So, whatever happens to one person might not happen to you. But I have found that learning from one another, from my family, and from the research available prepared me better for what did happen eventually. The rest is fate, luck, and the big unknown and there is a little bit of all of these in each one of us …

Stay healthy, you all! And make it a great Holiday Season!

Long Time, No Write …

How in the blue blazes has it come to be December already?? I cannot believe that my last blog was in July! We were eating peaches and getting our skin scorched in the sun and now, we’re watching the Christmas tree glittering in front of the fireplace. What a crazy idea, the passing of time?!

But passes it does, and it’s not asking us any for permission either …

And I don't even have a good reason for my long absence other than ... life. Life happens, you know, and lucky we are that and when it does! 

It’s been a busy year, personally, and for that I am grateful. It has also been a healthy year (or should I say, as I always do, “healthy for me”), and for that I am doubly grateful. We have travelled a little here and there, even went on a cruise in November. I only traveled for work one more time since I wrote here last. Travel is still one of the things I enjoy the most, and one of my more challenging things. I have the most trouble finding things to eat when I am away from home, because everything has to be vegan but not very green. The world still thinks that vegan means “a plate full of greens”, so it’s a bit challenging. I also have trouble sleeping and really getting comfortable. When I travel for work it’s always at very high altitude and I can hardly breathe and I tire even easier there. But I am so much in awe that I can still do it and live to tell the tale.

In October, my husband and I were lucky enough to be able to go to the FH Summit in Atlanta, GA. This was our first time although this has been happening every year for seven years now. The FH Foundation surely knows how to throw an educational event! We have learned so many new things, we have seen how much more people know about FH and how much more educated people (including doctors) are about this disease now. This Foundation has truly been doing a labor of love! We have learned about how doctors screen better nowadays for it, what therapies are out there in research or even approved but maybe not as well-known. I was the most pleasantly surprised at how incredibly approachable the doctors were at this conference, and how willing they were to learn from us, the patients, about what it means to live with this condition. If you or someone you know has FH, I would recommend attending, if you can, at least once. It will open your eyes and your hearts!

Besides the travel which is always draining for my heart especially, we have had a challenging year emotionally, too. My mother has still been battling lung cancer; my dad just had a stroke (more about this in a future post, I promise!), our last living kitty died while we were away on our cruise and my husband left a job and just started a new one which was a bit of a roller coaster, as well. Through and for it all, we are beyond grateful that we’re (almost) all still here and alive and managing our health the best we can. ‘Cause if you don’t have health how in the world can you do all the other commitments life throws at you?

Lately, I have had new symptoms of dizziness and light-headedness, low blood pressures and high, too. My INR nurse has noticed that around the holidays and when I travel I have a hard time keeping my INR in range (I still fight with this ONE number!). I mean, I have accepted that my cholesterol will always be high, but the INR cannot make up its mind! One day it’s 1.4, a week later it’s 2.9! Go figure! But this is what “normal” is for me now.

I wish I had more time for naps, as I feel drained almost always, but not really sure how to make time for that. The simple act of living for people like us means constant effort and awareness. I was telling my husband (as if he didn’t know quite well!) that there is not one thing that I put in my mouth that I don’t question: “oh, could it have butter? What about eggs? Could they have boiled this in chicken broth? Or since we’re in the South, could they have fried this in bacon?” I love eating at Oriental places because they never sneak in cheese into anything and they always steam their rice! At least that! There is no hour in the day that doesn’t pass without asking “oh, did I take my morning drugs? Is it time for Coumadin yet?” Or any week that I don’t think “is this Wednesday time for my bi-weekly Praluent shot?”

But we all, no matter who we are and what we’re up against, have a cross to bear one way or another.  We all have our own journeys. I am sure thousands of you have kids you worry about, parents you want to see living to an olden, ripe age. Jobs you hate and which stress you and yours out every hour of every day, houses you want to get out of or dying to get into … All I have this sick ol’ heart and my cholesterol. And this is OK, in the scheme of things, I guess. This … is manageable.

I promise to return much, much sooner with more updates about recent blood tests and heart and aortic tests, and also about what unfortunately happens as a complication of FH (will update you on my dad’s stroke). I promise I won’t be “on vacation” for months again.

Happy December to all till then! And never forget: make time for yourselves before you help others.

Why Are Cholesterol Numbers So Hard to Understand?

Although my cardiologist will tell you that I know more about cholesterol than he does, this is truly not a rhetorical question. I am really looking for the answer to it. 

After 36 years of watching these numbers, I am as puzzled by my cholesterol numbers as ever. The good news is – I am still at the better end of where the numbers need to be. But the bad news is, although I have seen some normal numbers while on my current regimen of drugs, the current numbers are not normal anymore, and they have not been this year.

If you have read the previous entry (https://livingwithfh.blogspot.com/2019/05/fh-is-pain-in-butt-literally.html), you know that my numbers were very low at some point last year (around September) and then they started inching back up. My cardiologist has exhausted all the guesses he has had so far (I think!) as to why this happened, since I have not made one change in my lifestyle nor medication.

We have exhausted guessing about the quality of the drugs maybe going down, or the fact that my body might be resistant to Praluent all of a sudden (maybe to the other drugs, too?!) – we still don’t have an answer to this last theory. As of late, he was trying to test the idea that maybe I was not injecting my Praluent properly, so for the past three shots (this is six weeks), he had me come into the clinic and let his nurse inject it “the correct way”. Which I did. Her correct day was not much different than mine: we both inject in the thigh, alternating thighs every two weeks. The numbers, as you can see below, have dropped a little, but not enough to really consider them being in a new range.

Sigh …

The guessing continues, and at this point this is where we are: guessing, or wondering, still.

The next step is to meet with him next week and try to understand what the immediate future plans hold. Some things we talked about were:

• Wait it out and do nothing. Continue with the current regimen and just keep the numbers as low as possible; they are still some of the lowest ever, so this is good.
•  Another option is to switch to Repatha. Maybe I respond better to it than to Praluent?!
  Maybe we have given Praluent a fighting chance and this is the best it can do for me.

At this point, this last option makes me angry and deflated, because this means a renewed battle with the insurance company to get Repatha approved, when I thought I was pretty much in the “safe zone” with the Praluent, since they have been approving it for three years. Sigh, again … Also, I am not sure what this would mean for my bottom line: for now, Praluent is clearly their preferred drug, because I have a $0 copay for it. Not sure how much Repatha would be.

I will wait for the appointment with the cardiologist next week to see where we go from here. But so far, so not so very good, I guess, you can say. I keep reading to see if others experience this “plateau” stage at all, and whether there is anything in the current research about how Praluent works (or stops working or changes the way it works) in the long run. So far, researching and staying tuned is about all I can do.

Much health, everyone! And many answered questions to all!

“FH Is a Pain in the Butt. Literally.”

The title needed quotation marks because it was suggested by my husband after my latest appointment with my cardiologist. I hope after reading this post you will concur with its appropriateness.

As we all know, managing FH is a journey of discovery. You have the condition, and then you have the complications. You have some treatment and then you have some side effects that also need to be managed. Some drugs work, some don’t, some drugs work for a while and then stop. And then they need other drugs to help them up and then their little helpers stop working … After 20+ years of managing this disease with drugs I am still puzzled about what does work and why. And about what makes drugs (or other things, like diet, my body and its hormones and its natural disposition) stop working with me to keep the numbers low. I am always learning and always starting over, it seems.

I know that a lot of people who are just now being diagnosed want to know the magic trick or cocktail they need to be on that will ensure they can manage the numbers and prevent events. But the truth is, as I have found it: there is no silver bullet. It’s what works for you, and that answer can take a while to figure out. Just make sure you get good doctors that understand the disease and why and how it should be managed differently than regular “high cholesterol” and try what is available out there (there are lots of options now!), and learn your body along the way and know what works for you. That would be my advice.

And with that, yes, I am myself still looking for that magic trick that would make my numbers normal – which has happened just once since I was first diagnosed 36 years ago. As you can see below, somehow, and we don’t know why, my total cholesterol and my LDL (which is more important) were within normal ranges once in September 2018. But since they, they have been going back up. Since January of this year, we have been trying to figure out why this is. In the words of my cardiologist, “I wanna know what happened to those 60 mgs of LDL! I wanna give them back!” – but we have not managed to find a reason for this.

We know that the numbers dipped to normal levels only after we added the Praluent. So, naturally, we think the Praluent might also be responsible for the numbers going back up, somehow. We went as far as contacting the Praluent manufacturer, but we have not gotten very far with them. In the beginning they said there is no known evidence that a patient could build resistance to the drug, but the second time (more recently) when we contacted them, they said there is a very small margin for resistance (I cannot remember if they said there is 0.3 or a 0.03% chance of building resistance – is what their research shows. They said “it is not zero, but it is very small”.) The course of action now is to go to the clinic and have the nurse inject the Praluent instead of me doing it on my own, just to ensure that I am administering it correctly. They also asked me where and how I inject the drug, and I told them: I have been doing it the same way, in the side of my thigh, alternating legs every 2 weeks about the same time of the day for 3 years now. Now, the manufacturer rep said it needs to be injected in the top (not side) of the thigh, so we will try that for a while and see if the numbers change. Again, a word of caution for folks out there: the cardiologist and the manufacturer both told me again that the drugs work best when injected in a muscle and not in a fat tissue; so, not in your stomach, but in your thigh or upper arm, where there is more muscle. At least, this is the advice they gave me.

I am not aware of any other changes that could trigger these numbers to go the other direction for me, and the cardiologist did not suspect anything else to be the culprit. So, we will see. Maybe it’s time to try Repatha instead?! Not sure …

In addition to this journey, there is the parallel journey of making sure that my heart and my arteries stay healthy, or whatever “healthy” means to me. So, to ensure that, the cardiologist ordered for the first time ever a complete body scan (with contrast) of all my arteries. I say “all”, but I mean only the arteries in the trunk of my body, if you will: from my neck to my pelvis – so, no brain, and no legs.

His idea was that if the damage in the arteries in my heart was so severe three years ago when I had my surgery, then he is wondering about the status of the rest of my arteries in my body – is there an aneurism anywhere else like I had in my aortic arch? Are there any blockages that need to be opened up like the four that needed bypassing in my heart?! What exactly is going on?!

The test showed, as you would suspect, atherosclerotic disease of various severities pretty much in every artery scanned. Very few had mild disease, but most of them had moderate, or moderate-to-severe disease. The worst (moderate to severe) are my thoracic and my abdominal branches of my aorta, where “the infrarenal abdominal aorta in particular is severely narrowed down to a minimum cross sectional diameter of 0.6 x 0.6 cm just above the takeoff of the inferior mesenteric artery.” I am told that this diameter would be equal to about a 70% blockage. The severity seems to match the one in my carotids, which is between 65-75%. Just like the carotids, the course of action here is to do nothing right now, and just to repeat with an ultrasound every year and ensure that the blockage does not become bigger. If it gets closer to 90% then surgery for a graft or a stent might be recommended.

The doctor said that if this blockage would cause symptoms, because of where it is located (right after the aorta leaves the kidney area and before it splits to go to my legs), I would notice a sharp pain in my buttocks. I don’t notice that, but I do have pain in my calves when I exercise – he said he doesn’t think that pain is related to this, because my buttocks would also hurt in this case. Hence, the title of this blog.

So, as of right now, these are the things I need to watch pretty much every year for as long as I live:

• Cholesterol numbers (every 3-6 months, typically, but we’re doing them more often now because we’re trying to figure out why they have gone back up)
• Liver enzymes (every 3-6 months)
• INR (weekly) for the health of my mechanical aortic valve
• Heart echo (yearly)
• Carotid ultrasound (every 2 years)
• Thoracic and abdominal aorta ultrasound (every 1-2 years – this is new and the cardiologist will confer with a vascular surgeon before he sets a definite schedule).

Of course, at any given time when a new symptom comes up, he orders other tests, as well.

Some might say that FH and all the complications that come from it is a full time job. I prefer to look at it as a life style: it is part of our bodies just as much as the color of our eyes. We, people who have it, learn to incorporate all this knowledge and all the tests in our daily routine. We need to know that along with vacation once a year, we need to make time for a couple or three echos and 3-5 blood tests. Plus, daily medicine and a healthier than average lifestyle. Knowledge is power and knowledge and taking advantage of the medical developments out there will give us a healthier and fuller life. None of us have control over the length of our lives, but I at least try to have some control over the quality of what I have left.

I am grateful that we have the tools that allow us to know and manage this disease. We can be mobile, aware, and do pretty much everything we want to do in and with our lives. There are millions of patients out there suffering from so many other afflictions that do not get this lucky.

Onward, all! It’s the only way …

The Heart Update: A Heart Event and New Heart Tests Results

A few weeks ago something really bizarre happened. On a Wednesday afternoon, my husband and I went for our usual bi-weekly or so walk in our neighborhood. We have what I call a “kick-a$$” (for me) hill right outside our driveway, about a mile long, round trip. This makes for good cardio. I have a landmark on the side of the road (a bright red fire hydrant) that is almost at the top of this hill about where my symptoms kick in: I start really losing my breath, choking up, my left arm gets numb, and the cramps in my legs start pulling at my muscles really tightly. These symptoms happen about 90% of the time when I do this routine walk, especially when I go at that hill fast. I normally do go fast because my cardiologist is of the belief that we really need to push our heart into cardio mode to grow new, healthy arteries. As my old ones are bad, I figured this is a good enough reason, but I almost always pay for it with these symptoms. They do ease up after I am done with the hill and walk back down, or wander around the neighborhood on more flat grounds.

I (sort of) digress, though. So, on this Wednesday, my symptoms start kicking in at around my landmark and they get worse as I walk. We make it to the top of the hill where there is a flat part of our walk, and where usually the symptoms kind of plateau or calm down. But on this one day, they were actually getting worse, even after was done climbing. On top of the usual cramps and numbness in my left arm and shoulder blade, I was now getting this incredibly sharp pain in my chest: like a huge eagle or owl was sitting on my chest digging their huge talons into my heart, or somewhere where my heart should be, somewhere behind my sternum.

We came back home and the chest claw was not letting up. My breathing was labored and I felt like I had SO MUCH acid reflux in my chest – I remembered very clearly that when I had my heart attack after my surgery, I thought I had acid reflux, with my chest full of fluid and that I was not able to burp it. That same feeling was coming back that day. I felt like I swallowed a basketball-sized water balloon and it was pushing into my lungs and chest walls or something.

Back home, after I rested for a bit, I took my blood pressure and it was 150/58 with a pulse of 58. I thought: well, something really did happen or my heart really did work out, since my pressure is clearly up! I kept feeling weak all evening, with the watery chest persisting and the claw coming and going. Because of all these new symptoms I did not even think to take a Nitroglycerin. I was just in awe: what could cause all this and what was happening?!

Next day, my weakness and full chest continued. My blood pressure kept climbing up all throughout the next day: 149/62 in the morning, 189/81 at lunch (what?!), 141/50 in the evening. All of these while at rest. I did not walk anymore. I was just around the house all day, doing light chores, but all these numbers and what I felt were scaring me. On Thursday morning, I jumped on the scale in my bathroom, as I usually do about 2-3 times a month. It read 120 lbs! This was 6 lbs more than the previous time that could not have been longer than a week and a half or two before! The feeling of bloating and puffiness in my core body was still there and I could not help but wonder if this was all fluid build-up. I had not changed my diet in any way. I was not lazier than normal, so  what could possibly make me gain 6 lbs in that short of a time?!

I have a pretty good relationship with my cardiologist and thought to text him a few times, but I also had an appointment scheduled with him the following week, so I thought I’d wait. I figured he’d send me to the ER if I texted him at that point and as much as that I figured out myself, but I did not want to deal with the ER. Not yet. I was hoping that I won’t get light headed or dizzy and as long as I didn’t feel that, I was going to wait this one out. So, I did.

On Friday, we had a weekend trip planned to Virginia to visit relatives and the symptoms continued during our drive up there. I took my bp monitor with me and kept records of it, because I wanted to show my cardiologist what was happening. The high blood pressure continued throughout the weekend. On Friday night my legs were so swollen, you could not see the bones in my ankles anymore. My feet  could not fit the clogs I was wearing except for the tips of my toes. On Saturday, we went to browse a Barnes & Noble store and I was walking around skimming through books and my chest claw came on again and I felt like I was going to fall down – it knocked the breath right outta me. I had to sit down. I was not dizzy, but very weak.

I continued to just take it easy and enjoyed our day up there – my husband got to reconnect with relatives he had not seen in 35+ years, so I was so wanting us to just enjoy our time and make new memories.

We came down on Sunday afternoon and I drove the whole way (about three and a half hours), just to take my mind off of this mess. I was absolutely exhausted when we made it back. I took a shower and napped. My blood pressure was still hanging out at 169/65 after my nap. My ears were bright red. I was afraid to jump on the scale again. My sleep was poor, as well: I just felt like suffocating when I laid down and I could hear my heart beating so strongly and my valve clicking louder than normal. I have a stethoscope, and I listed to my heart for new murmurs or swooshy sounds, but I could not hear anything new.

Next Monday, I woke up and I did check my weight again: it had dropped to 116! Just like that: from Thursday to Monday (in 4 days!) I had lost 4 lbs! I wish this would happen every week, believe me, but I knew this could not be just fat loss. Along with this mysterious weight loss, my bp was 115/50 that morning. The claw in my chest was gone and so was the full, watery feeling. All seemed to be back to normal. Just. Like. That.

On Wednesday I went in for a scheduled heart echo and for an appointment with my cardiologist. I explained all these to him and he has no idea what happened! He doesn’t want to go on guessing. He examined me, and heard no new sounds, either, and no sign of fluid. He did say that it does sound like I had fluid backed up but it was obvious to him it was not still a problem, as my leg swelling went down and my blood pressure too. He did check my C-reactive protein levels which could indicate an inflammation, I guess, and that came back normal. He just advised that next time I should take an extra-half of Atenolol (which I take daily) and see if the heart palpitations and the bp would go down. If that doesn’t happen, to call him or go to the ER. Of course.

The echo he ordered was just my yearly routine echo. It came back with almost no changes from the previous year, although it still shows disease, of course: there is annular calcification of my mitral valve, but the valve is fully mobile. My left atrium is moderately enlarged. My ventricle is normal and it squeezes strongly, the doctor said. My ejection fraction is still sitting at 55% which has been unchanged since my surgery, three years ago. I remember when it was 70%, even the year before my heart surgery, but I don’t think I will ever see that number again! He also said that by looking at the pictures, he thinks my aortic insufficiency has improved and it is not as bad as before. I was kind of wondering about that, because the gap between my blood pressure readings has gotten smaller. It’s still not what you would expect (the diastolic is still lower than what you want), but it has definitely closed up a bit. A good report, all things considered.

He also ordered an ABI test (or ankle-brachial index test - https://www.webmd.com/heart-disease/ankle-brachial-test#1) to determine if there is vascular disease in my legs, since they always get cramped when I walk on inclines or very fast. This test “indicated no significant arterial occlusive disease at rest and after exercise bilaterally.” They did make me walk on a treadmill, for the exercise, with an incline of 10 and a speed of 1.5 for 5 minutes. When I walk on the treadmill and when I do get symptoms, I usually walk with no incline and I reach a speed of about 3 mph. I usually get cramps about 10-15 minutes into the exercise, so during their test I did not get symptomatic at all. Not sure how to interpret this, but the cardiologist assured me that if there were any disease it would have been evident even in the case of a light, short walk with a steep incline like in the test they performed.

I wish I understood more about what happened that odd week. Since then, my blood pressure has stayed within normal ranges, or what normal is for me. I am back to my usual routine and I did go on my usual walk several times now, and the hill has not caused a problem yet. I am glad that it all appears to be cleared up now and I am back to my normal, but a nagging thought in the back of my head still tugs at me: was it a heart attack? What was that?! I guess, for now, I am grateful I am still here and back to my normal routine and looking forward to more normal days. Sometimes, this is plenty enough!

Update on New Improved Numbers and Continued Watching …

Someone once said that "there is safety in numbers." I guess they did not make it clear what kind of numbers. 

The mysteries of the numbers continue, but this time it’s a hopeful trend.

I mentioned a while back in a post (Could Praluent Stop Working? - http://livingwithfh.blogspot.com/2019/01/could-praluent-stop-working.html) that for some mysterious reason my cholesterol numbers started climbing up. Quite a bit, in fact: in just four months, the total cholesterol went from 175 to 252 mg/ dl (LDL from 127 to 192 mg/dl). It’s mysterious because I had not changed anything in my drug regimen, my diet, or my exercise practice. But all of a sudden, after the beginning of this year, they started going up!

We have not determined yet what caused the hike. I have continued the usual treatment (for a list of my current medications, see My Current Drug Regimen, Diet, and Exercise - http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html) and they have continued to measure my levels for the past two months now. After the January numbers above, the numbers went down little by little as you can see in the chart below.

However, as you can see, these numbers are still not normal and definitely too high for an HoFH patient with a lot of years of high levels and established cardio-vascular disease, and with a rich family history of complications from FH, heart disease, and strokes.

But, however not assuring these numbers are, at this point in time, we are just watching them. The guess is that for some reason something happened with a couple of Praluent injections that I took, either the transportation of them was incorrect before they got to me, or I administered them wrong (sometimes there is a little ooze at the end of the injection and I can see that not all the liquid actually goes into my skin) – whatever happened, for now, the idea is that the Praluent stopped working for a tiny bit of time. So, now, we are just continuing the treatment with Lipitor, Zetia, and Praluent and will also continue taking the numbers every month to 6 weeks, instead of every 3-4 months.

There are options to investigate further, about having built a possible resistance to some of the drugs, but right now we are not going to test for that. We are just hoping that we can bring them down by being more conscious of administering the Praluent correctly (without any oozing, if possible) and we’ll see where the numbers will end.

I also wonder if the numbers in September were not a lab error, maybe? I have seen those before, although not often. My numbers had never before been that low, and I wonder if something happened there. Just a lot of guessing and wondering, not a lot of answers, I know. But I wanted to share that guessing and wondering and not having all the answers although you think you have all the facts is just part of this “living with FH” game.

In other news, my liver function tests have also dropped. Also, with no apparent reason. For some time now, maybe three years, some of my liver enzymes (the AST and the ALT) have been elevated. So far, they have diagnosed me with fatty liver disease, based mostly on my HoFH history and these numbers being high. I have been also wondering if any of the drugs I am taking (for cholesterol and for everything else) have contributed to the elevated liver function tests, because everything we take is processed in the liver and I am surely throwing a ton at mine. No answer was ever conclusive that the numbers could be related to any kind of toxicity from the drugs or from anything else.

With this past battery of tests this month, both my AST and my ALT came back to normal levels – 24 and 30 U/L respectively. These are down from 61 and 40 U/L just a month ago. The only thing that changed during his month is that I have started drinking coffee again. I had stopped drinking it after my heart surgery because real coffee gives me palpitations and increases my heart rhythm. My liver doctor recommended that I reintroduce coffee, even decaf, to help protect the liver – unbeknownst to me, coffee is an antioxidant that is beneficial for undoing liver damage. Seems like a small (and pleasant, for once) change, but could it have that much of in impact?! Not really sure how one could prove or disprove this.  

Do I feel "safer" knowing these numbers? Not necessarily. It is just the ebb and flow of monitoring this condition, or rather these conditions as they arise, when they arise. I have always thought that knowledge is power, and I have always advocated with my caretakers that yes we do need to repeat this test every year, or month or ... whatever ... With a genetic condition on our hands, we never know what the body decides to do on its own, as it is programmed genetically. So knowing, adjusting, and caring for it will buy us, hopefully, some time.  

I guess that no matter how many specialists we see, and no matter how precise we think our tests are nowadays, there is always proof that this is not always a precise science. Aside from many variables in the lab, there is always the human factor involved. We are so complex that there might be no telling what influenced the numbers on one test. For now, I am enjoying the trend, and hoping I can continue it.

As for what is ahead: the mystery of the human puzzle continues, I am sure, with or without our acceptance of it.

"Up and At'em!" - Thoughts on My Third Anniversary Since My Open Heart Surgery

“Up and at'em!” - is what my surgeon said to me the day I came out of ICU, two days after my surgery. Three years ago tonight I came out of my open heart surgery with a new mechanical aortic valve, a new aorta, a repaired arch and four bypasses on four major arteries in my heart. About a week from that day, I had a heart attack while laying in my hospital bed waiting to be released.

But two days after the surgery, the surgeon said that once I would leave that hospital the sky will be the limit for me (“It's up and at'em from here on out!” - he said). Well, as those of you who have been through this already know, it takes a lot more work than this to be “up and at'em” again. But also as many of you know, it's not impossible.

I have been so blessed to have three more years added to my life, three years that now, looking back, I am not sure if I would have had, and not sure what they would have looked like if it were not for this surgery. I have had set backs and doubts that my heart is fine, I have felt and will always feel like a permanent heart patient, I still have regular appointments, take drugs and still manage the complications from the surgery daily. But … I have also lived a full life, too. I have worked full time since three months after surgery. I have traveled, I have camped, and climbed mountains, I have played with my nephews, and went on my first cruise. I have seen The Grand Canyon and walked Venice Beach and Sunset Boulevard in LA. I walked the streets of New York City in 100F weather for four days straight and did not pass out.

This past year, I landed back in the cath lab, for my new cardiologist to try to diagnose my angina and shortness of breath. Then, I landed back into cardiac rehab from there, which didn't help much this time around, except for giving me the confidence to exercise, angina and all. But I have had a good third year, too: this past year was the first one when my husband finally “freed” me to travel by myself. I jumped on a plane by myself and went on four business trips, one of them for two weeks all alone. No one to ensure I breathe in the middle of the night, and no one to help me store my luggage in the overhead bin.

What I know for sure now is that the journey is long, but it's so sweet and worth having. Every day that I see the sun, every flower that I see sprouting in my yard every spring, every humming bird that comes and visits our feeder in the summer – I am grateful I get to see it all and enjoy it all. Every morning that I open my eyes and I feel the rise and fall of my breathing chest, every click of the mechanical valve that I hear, I am in awe of how amazing this life and medicine is and how humbled I am that I have benefited from it all. I am amazed at how resilient, we, as a species, are, and how much power to fight and rejuvenate we have.

I am here to tell you that this journey is ultimately so worth taking. I know it can seem daunting if you are coming just now to the edge of what seems to be a bottomless precipice, right before you have to face that cold room where your heart will change forever. But trust me: the desire you have to live and get better, the power and energy you are equipped with to fight through any setback are stronger than any fear you might feel right now. I know you might not see it, but trust me – it's there.

Whether you do it for your kids, or for your significant other, whether you do it for yourself, or your pet, whether you do it so you can have one more taste of your favorite food or to cross those 100 things on your Bucket List, whether you do it just because you're stubborn and want to kick some heart disease butt (like I am), or for those two cute Canadian nephews that you want to see grow up and get married one day (like I did), whatever your reason – know that you will go through it and see your life's dreams come true one day. Just keep at it. Pray. Trust in you and your team and give it all you've got. When you wake up on the other side of that precipice you'll be glad you jumped and the beautiful journey will just then begin!

Nowadays, medicines, doctor appointments, and all, I am happy to be living and to be looking forward to more life. I am glad and grateful that what was once very wrong with me is patched up to the best of our abilities and will allow me to be here, to be present, and to give myself to this life.

After three full years where I have had to re-learn who I am really and I have had to re-learn to be grateful and patient, I am finally able to say that “up and at'em” it is.

Onward, you all! May your journeys be smooth and rewarding. May your gaze be steady and your soul open to receive healing.

For those of you reading here who know me from the Heart Valve Surgery Site (https://www.heart-valve-surgery.com/), happy anniversary to all of you in the 2016 class that supported me and carried me through my darkest days after surgery. Your sharing your stories with me has been a precious gift for which I am forever grateful. I wish all of you, in every stage of recovery and healing, much health and many blessings ahead! And for those of you just beginning: trust and look up! The light is yet to come...

Could Praluent Stop Working?!

Happy New Year, everyone! I hope you are all healthy and ready to take another one on with all that it might bring us.

I was happening to read this article the other day and it made me chuckle that they actually look at cholesterol numbers this way: https://www.wsj.com/articles/high-cholesterol-it-must-be-january-11547814600. The article is worth a read, but to summarize: apparently, our cholesterol goes up over the holidays, and if we were to measure it in January we would see that, because we fall off the wagon and we eat all those rich, unhealthy foods over the holidays, and too much of them.

I chuckled to myself because diet is not really a factor for my cholesterol numbers, this time of the year or ever, because:

1. I have HoFH which is really not influenced much by diet, if at all
   and
2. I don't change what I eat when we're around holidays. I can't because I am allergic to all those rich foods that could raise my cholesterol (like meats, dairy, eggs and the likes).

But what do you know, I went in for a cholesterol check and these were my numbers:

<insert funny, deflating sound of disappointment here>

So, diet is a moot point for me, so what could be the culprit for these crazy numbers?! As you can tell, the jump is huge.

Truth be told, the numbers I got last time surprised me as being way too low. Since I started Praluent, my Total Cholesterol hangs around 190's and my LDL around 140-150s. So, I saw the results in September as a fluke, too. But these new numbers are scary, considering the full cocktail I am on. For a list of all my medications, see http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html.

My doctor and his nurse have been trying to figure out what happened. The following has been their inquiry process to try to get to the bottom of this change:

1. Did I stop the Praluent or any of my other medications? No, I did not change even one thing about my medication. No change in the time, dose, pattern of injecting the Praluent.
2. Did I not use my thigh to inject the Praluent? Did I use my stomach? No, I did not. I have always used my thigh, alternating between the thighs from one injection the to next.
3. Did I inject every 1^st and 15^th of the month “to be exact in the break between the shots”? I corrected them: I always inject the Praluent on a Wednesday every two weeks. This (and not the 1^st and the 15^th of every month) will always ensure an equal amount of days between the shots. The nurse agreed with me. She, apparently “never thought about it, but I was right.”
4. Did I not refrigerate my Praluent? Nope. The first thing I do when it comes off the UPS/ FedEx truck is to put it in the fridge. ( you will find literature out there that says that even if you do not refrigerate it, it should be OK to use for up to 30 days, but I don't believe that, really).

Besides the detective work that the doctor and the nurse did with me, I called a friend who is a medical researcher and has been involved in researching Praluent particularly since it was in clinical trials. I asked them if there is any evidence of developing resistance to the medication after a while. This happened with the statins for me, and I had to add additional drugs to support the statin. The answer was: nothing like it has ever been found and they have had people that have been on Praluent now for 6 years (double of the amount of time I have been on it) and they never noticed resistance.

Well, all this work was interesting, but I still had no answers. I did notice one difference in the shot, though: the last two shots that I took right before the cholesterol test were excruciatingly painful. I always whine that they hurt, but those two times I literally screamed and started crying instantly. They burned and hurt like crazy. So, I told the nurse that. She said, “well, that must be it. You got a bad batch of Praluent.”

Now, how would I know for sure? She asked if I had the LOT number from those injections that hurt (the last ones) and of course I don't anymore, but I am keeping closer records now. She gave me a number for the My Praluent line to speak with the manufacturer about what happened: the fact that the injection hurt more than usual (they consider this to be a “reaction” that needs to be reported to Regeneron/ Sanofi), and the fact that my numbers went up with no other explanation.

I called the number (which actually redirected me to Sanofi who is marketing the drug, after selecting the extension for “reporting an adverse reaction”) and they, too, were not able to help very much.

They asked me the same questions that my doctor has already asked. In addition, they also suggested that maybe “I need to increase the dose, as the current dose stopped working”. Umm... that is not possible because I am already on the 150mg pen which is the highest dose approved for Praluent. So, not a go there.

They only are guessing that somehow, one of the entities handling the drug (could be the warehouse, or anyone in the transportation of the drug from any leg of the trip until the drug got to me) mis-stored the box with the pens in it. The drug has to be refrigerated but not frozen. With the low temperatures we have been seeing for the past several months, who knows? Maybe it froze on the truck to one place or to my house?! Without a LOT number, they cannot do much and right now they do not have any recalls recorded. So, they are not aware of any certain batches that were bad, so the mishandling must be the problem here.

They said I will get a lot of paperwork in the mail to fill out and I should send it back to them and this is what they will use if they need to build a case for a recall, in case they get similar reports from other patients.

They also said if they do have a recall they notify all the doctors that are ordering the drugs (as you know, doctors work very closely with the distributors of Praluent and Repatha, so they have close records for those doctors, I would imagine) and the doctor should notify me immediately. I already know my doctor is extremely efficient in letting me know about recalls, as another medical device I order (and of which my doctor is aware) had a recall a few months back and the doctor emailed me on a Sunday, the day the FDA announced the recall.

So, unfortunately, we don't know what happened, but we have some guesses. Now, the plan is to continue with the Praluent, as it arrives from the specialty pharmacy for the next month (so, two or three more shots) and then repeat the test in the beginning of March. Hopefully, the numbers will go back down to “my” normal.

Another interesting thing did happen, however. After talking with the My Praluent folks (who are not the same as my specialty pharmacy), I had to order a new refill for the Praluent. I called the pharmacy and ordered it, and nothing was changed on that end – the refill went smoothly and routinely. I ordered it to be delivered with no signature required, which is what I always select. The day when the order shipped I got a call for the very first time in three years (since I have been filling this drug) from a bot. They wanted to remind me that I had placed an order for Praluent and that I did not require a signature. And they wanted to ensure that I open the package and I store it properly just the minute it arrives at my door. Now, this was an interesting coincidence that I received this very specific indication after doubting the storage and packaging of this drug like never before, wasn't it?! I am trying to figure out what prompted the call this time: is it more than one person complaining that all of a sudden the drugs stopped working? Or was it the brutal temperatures we're dealing with nowadays, the polar vortex and the below human temps we have seen everywhere in the country?! Like I said: I called My Praluent to tell them about the mishap, and not my specialty pharmacy – so how could the two actually be concerned about the handling of the drug right at this very moment when I was doubting exactly that.

I guess I will never know. As you can tell, I have tons of questions and only a guess, at best, for an answer. I will continue with what drugs I have, and we'll see what numbers I'll get in March. Hoping for some good news …

Much health and a warm rest of the winter to all!