About Juxtapid (Lomitapide)

My lipidologist has recently recommended a change in my drug regimen, to try to lower my LDL values even more (read about this here: http://livingwithfh.blogspot.com/2017/12/the-tricky-balance-between-trusting.html). He recommended I would start taking Juxtapid (Lomitapide). Saying that I am nervous about starting this very potent and very much dangerous drug is an understatement. 

I have gone online in the FH Foundation's Discussion Group on Facebook to ask other patients and care givers if they have any experience with Juxtapid. 

I have had a couple of answers, with folks saying they have been on it and that it worked great for the numbers, but the side effects was pretty severe. 

Out of all the answers, Leitha Jordan Brogan's was by far the most informative. She is a HoFH patient as well as a nurse. I thought adding her answers here about Juxtapid might help someone someday on their decision to go on it, or not. 

Read on, and Leitha, again: thank you for sharing! 

I started at 5 mg for 1 month, then 10 mg for a month, then 20 mg and my numbers finally normalized at 40 mg but that dose was hard on my gut. Dividing the dose lessened the discomfort but doubled the price. Yes!! Be concerned about the effects on the liver. I have fatty liver. The doctors don’t seem too concerned about it. When you first start Juxtapid the dietitian will counsel you about fat intake and based on your weight will calculate the appropriate percentage of fats for you. They teach based on “fat is fat” not, good vs bad fats. ALL fats will react exactly the same so, staying under the allowance for you personally will avert disaster. “Disaster” comes in the form of EXPLOSIVE diarrhea or vomiting like is depicted in a horror movie. (I wish I was joking). Like I said, you watch the fat grams and keep them under the allowance and never, ever eat closer than two hours to the capsule and you will probably be alright. I was very, very fortunate.

60 mg is the maximum dosage for Juxtapid and I know some of the folks taking it are at that dose. I don’t think I could tolerate it any higher than 40 mg and honestly, if I was to end up being able to go back on it, I don’t think I’d consent to 40 mg again.

When part of the company’s sales pitch is, “... but you’d still qualify for liver transplant...”, it behooves you to pay attention. It’s a serious medication for a serious disease. They don’t take any of the warnings lightly. The Compass program sets you up with a dietitian who is always a phone call away. The pharmacist is also easily reachable. You have a caseworker who is easy to reach for any questions. Your prescribing physician becomes your new, best friend and you will find yourself on a “high priority” status in that office. (If you don’t...something is wrong). You will have lab work that includes LFTs (liver function tests...AST, ALT, etc.) at very close intervals to begin with but is later reduced to about every three months (after you reach your titrated, effective dose). You will have frequent appointments with your doctor. You will receive mailings with low fat recipes to try. The “welcome kit” has a fat counter for every fast food and chain restaurant known and it’s easy to eat out while maintaining the fat intake. I was calculated to be allowed 37 fat grams in 24 hours so I divided them up between my meals. I allowed 10 for breakfast, 14 for lunch, and 13 for supper. I would simply adjust for planned outings or special occasions but I tried to keep the majority of fats around lunch because of knowing I would take the Juxtapid at bedtime. I set my alarms in my phone to remind me about the last food for the day, (to be consumed by 7 pm) and the dose of Juxtapid that I took at 9 pm. I never missed a dose that way.

Once I was finally at my acceptable dosage, I had very few issues. Breaks in taking Juxtapid causes you to have to re-titrate. When I had open heart surgery I had to stop it because of all the medication I was on in hospital. I tolerated going back on it okay but starting all over left me more open to the side-effects. I’m happy to answer any questions you may have. I spent 36 years as a nurse before I had to retire.

... the cost for Juxtapid was right around $78,000.00 per month for the divided dose. Ordinarily it would have cost around $34,000.00. The commercial insurance I had approved the prior authorization and it operated on a “co-pay” (fixed amount out-of-pocket) as opposed to a “co-insurance” (percentage based fee). I paid the highest co-pay of $40 per month. Once I was priced out of commercial insurance (premium went from $684/mo to $2288/mo), I was forced onto Medicare and it has no out-of-pocket maximum, operates on a co-insurance of 80/20, and allows no third-party assistance with premiums or services. My portion of the monthly fees for Juxtapid was between $4-5,000.00 per month. LDL Apheresis costs around $11,200.00 per month and between my Medicare and the supplement I purchased for a little over $700/month, I don’t owe anything. I just have to drive five hours to get there and can’t drive home so my husband takes two days every two weeks off from his job and he takes me from Florida Panhandle to Atlanta. It works and has no effect on the liver so, I’m not going to complain. I’m thankful it’s available. Best of luck to you in making your decision. If I knew I wouldn’t be jerked off and on Juxtapid because of the chronic need to re-authorize, I’d go back on it if it again became available. You may consider a trial of it. Nothing says you can’t decide it isn’t for you and stop it. I’m still in a 10-year study for it, lol. Even though I lost access they still want to follow my progress.

It’s a huge decision. I took Warfarin after my open heart. Ugh! I think I made it harder than it had to be. But the week I started Juxtapid I cried every time I tried to cook, and even just going with a friend for lunch. I finally found the Turkey, Bacon, Ranch at Tropical Smoothie was 17 fat grams. It’s a rather large (and tasty) sandwich and it saved my sanity. I ate half for lunch and took half home. It was about all I ate on my lunches away from home. I still like them. Best of luck. It’s an amazing medication but I certainly understand the hesitation.

The Tricky Balance between Trusting Your Doctor and Listening to Your Body

After 34 years or so of trying to find answers to my disease and its complications, you would think I am done searching. But, alas, that is not the case.

My newest dilemmas (yes, there are several):

• My liver enzymes are on the edge: if I add any medication to my current cocktail, they shoot up. Is this something to worry and watch?! (it is for me, at least)
• I need to exercise more, but I have symptoms that prevent me from doing much: shortness of breath, chest tightness, dizziness. Are these from the heart? Or is the source of this discomfort elsewhere? Can it be removed and how?
• My blood pressure is still odd (systolic too high, diastolic too low). Should it be medicated?
• My total cholesterol is 184mg/dl, the lowest it's ever been, but my LDL is still high, at 145. Should we try some other medication? Or should we say this is 'enough' for me, since my 'natural' numbers are in the 500's and stay on the regimen and the diet I am on now ?!

So, with these questions in mind, I proceeded to see my cardiologist and my new lipid specialist. I got some answers, but as it is usually the case with me, I don't agree with some of them. Or at least, I want to learn more before I blindly follow their advice.

As a reminder, this blog offers no advice to anyone. It is just a representation of my struggles, my fears, and the choices I make alone. It should never be read or interpreted otherwise.

The Liver Levels

Following up from the last entry (http://livingwithfh.blogspot.com/2017/12/a-big-move-new-start-managing-same.html), I have had my liver levels redone, because at the time I was writing that entry they were elevated. What had gone up before were my transaminases (which, I learned in the meantime, are a different measurement of liver health than your bilirubin – more in a sec). My ALT was 102 (normal up to 54 U/L) and my AST is 54 (normal up to 41 U/L). At that time, my cardiologist believed that they were elevated because on top of my usual cocktail I had taken about two weeks of antibiotics for a UTI. After a week from stopping the antibiotics and repeating the tests, the ALT is 59 (still a bit high) and the AST is normal, at 34.

As a reminder, my usual cocktail includes Lipitor, Zetia, Praluent, and Warfarin (amongst other things), all of which are known to affect the liver.

The cardiologist is not concerned at all that the medicine I am taking is affecting the liver, although she agrees that it seems that if we add anything else to it (like the antibiotic) the levels rise. However, she does not consider these values too elevated.

When I personally see numbers jump around past the accepted range (especially double, like the ALT), it makes me wonder whether something is wrong. I have not found out where to find the real answer, really. For right now, I just know that my liver is sensitive to adding more 'poison' to it: after reading a whole bunch of things about what really makes the transaminases go up, I am more careful with and aware about the drugs or foods that do affect the liver (the warning is usually printed on the labels) that I consider taking. So, I know if I take Tylenol, it could affect me; if I drink a glass of alcohol, it could also affect me, or the liver, rather.

This is yet another thing to watch, I believe, because in this case the liver damage is irreversible and potentially fatal. So, onward we go, checking the liver enzymes every 3-4 months, in line with when we check the cholesterol values. This is a decision I made despite my cardiologist saying that these could be checked once every year now. I just would rather not go off my life-long schedule of every 3-4 months which gives me reassurance that I know how my liver is doing at all times, given the tendency of these numbers to spike. As you know from reading here: I like to know more rather than less.

My Heart Discomfort and the Need to Exercise More

I had a little bit of a spat with my cardiologist (who is new to me, having just moved to this part of the country). We have been over my family history; she knows about my HoFH (which she stubbornly calls 'hyperlipidemia' – a term I am not crazy about because it is not specific enough.) She also knows about my heart surgery and its complex nature. She has not, however, seen any heart images yet, nor has she asked me what my diet was. She declared that my 'heart is just great' and suggested for a therapy going forward that I 'should look at my diet and exercise'. I was a bit floored, and I felt like I was not being heard.

This is one of the peeves I have with just about every other doctor that sees me: their failure to understand that just diet and exercise alone will not make a difference in my case. Plus, she has no true understanding of what my heart really is doing: yes, she has seen the transcripts from my previous echos and cath, but she has not done one recently herself.

She had also not asked me if I have any limitations in exercising – a thing which I brought up myself. She was puzzled as to why. I then shared that I am short of breath, and that I don't last very long as I walk on an incline, I have the dizzy spells, and tinnitus quite frequently. Should those be looked into?! I also asked her if the Aortic Insufficiency and the weird blood pressure could be things we're missing about my heart. I wished she should have found these, and she should have suggested that we should look more into them on her own, but I am happy she eventually listened to my list of concerns. By now, I am used to helping my doctors along when I see that they gloss over my case as just another 'lazy patient who needs to cut McDonald's out of her diet' (which I am far from, as you know).

I hate arguing with doctors. I really do. I do expect them, though, to step out of the text book and look at the patient as a unique human being, with unique characteristics and responses to medicine, as well as with a unique build which might be more or less responsive to whatever the 'book' tells them to prescribe.

After pushing for answers she agreed that she should hook me up to a holter monitor for 48 hours and also do a cardio-pulmonary stress test, just to understand more about my heart function during a normal day as well as during exercise. So, I hope we get a better picture of what this 'great heart' is really up to, so we can hopefully start on the right foot.

In the meantime, I agreed to push myself a little more each day, in my walks: go a little further, walk a little faster, and see if my heart takes it (although if history serves right, I tried this many times before, and there is always this big wall I hit). We moved down from The Rockies into the hills of North Carolina because my heart does feel better here. So, maybe, just maybe, my insufficiency, caused by who knows what, is less prohibitive of my movements here. I do know that the heart muscle is happiest and healthiest when it moves. So, I'll try more, if I can.

The 'Weird' Blood Pressure

My new cardiologist suggested kind of nonchalantly and very unconvincingly that I 'should be on an Ace-inhibitor, like Lisinopril'. I asked her why, and she said it would lower my blood pressure, but it 'is indicated that people with heart disease should be on one, just as a safe measure.' The trouble with this is that my blood pressure is not consistently high. It has higher spikes, and my diastolic value is always too low. Every time I took something to lower it, it made me dizzier than ever and I felt like fainting. So, we decided to continue to monitor the numbers and see what the consistent trend is: the high systolic (rare) or the normal systolic and the low diastolic (more often than not)?! So, just like before, we are just watching the blood pressure with no remedy. She thinks, as the cardiologist before her, that my Aortic Insufficiency is to blame for my odd blood pressure, but there is nothing to be done for that.

My LDL Level. Can It Be Lowered Even More?!

As I mentioned in the last post, this cardiologist will not be the one managing my lipids and their treatment. For that, she referred me to an endocrinologist who specializes in lipids.

Incidentally, I had met with this same endocrinologist almost 20 years ago when I first came to this country. He happens to be renowned for his work with lipids, so my PCP back then sent me to him as a 'know all' specialist who will figure our my cholesterol problem.

Back then, I had not been positively diagnosed with HoFH and I cannot remember what he guessed on my disease: he did agree I had FH, but I cannot remember if he picked a type. 20 years ago, his first move for my treatment was to cut my Lipitor dose way down and to prescribe Niacin (and later Niaspan) to me in addition to Lipitor. He is probably the biggest believer in Niacin out of any doctor I have ever seen. Niacin is, besides awful to take because of severe side effects, ineffective to me: my numbers do not change on Niacin.

Now, 20 years later, guess what?! He recommends cutting the Lipitor in half, and he once again prescribes adding Niacin to my drug regimen. I politely told him we have been down that path and that didn't work so well for me. So, I told him it's not even worth talking about it, I will just not do it. He said that the numbers are not so much of importance, but that the effects Niacin has on the artery wall, which are proven to be significant, are much more important. This is the second doctor that says this to me, which puzzles me so: why do we have numbers and why do we strive for a target if they are not important?!

Using the same logic, we could say that an LDL of 145 mg/dl is indeed good enough and we should stay where we are. Especially since at the last carotid ultrasound it was seen that there was no more additional damage done within the past year to my carotids. So, the artery wall is fine, why not stop here?!

He mentioned I could now be on a more advanced form of Niacin, called Enduracin which has less side effects. He asked me to consider this. I am planning to get educated about Enduracin, but … I am not sure what to think. So far, it looks like Enduracin is just a fancy name for Niacin: I am not coming up with anything different for it than what I have known about Niacin.

In addition to Niacin and cutting the Lipitor in half, he also wants to add Juxtapid (Lomitapide) (https://en.wikipedia.org/wiki/Lomitapide) to my 'cocktail'. This is an orphan drug approved only for HoFH and it is very potent. What it does is block fat from coming out of the liver. From what I have read, it is very 'poisonous' to the liver, potentially causing fatty liver disease, and high transaminases levels – and again, we come full circle: I must watch those, as well, so anything with known side effects of liver damage scares me.

He agreed that this is an incredibly potent medication which could damage the liver, the reason for which he will prescribe a low dose (5 mg) and he will cut my Lipitor dose from 80 to 40 mg. I told him I must read and document myself more about this drug, before he can start the proceedings with my health insurance to get me approved for it. By all means, if you are reading here and have some input on this drug, a personal experience with it, what the results were, etc, please do share.

He was not too concerned with the liver enzymes already being too high for me. This is his opinion on those:

1. Transaminases are not 'too high' unless they are consistently triple the upper acceptable value, which mine have not been (yet).
   And
2. He believes that elevated transaminases (ALT and AST) are not a good indicator of liver damage. That 'unless the bilirubin is elevated, then there is no liver damage.' And my bilirubin has been normal historically.

Again, deep down in my heart, I believe there are numbers for a reason and when they are not within guidelines they cause reason for concern. I am not used to just ignore numbers. It's just not how I operate, no matter how many specialists I am exposed to. I am always skeptical of just ignoring the levels for any test!

If I start taking Juxtapid, to prevent the liver from overloading with fat and to prevent stomach upset and other GI issues, I will not be able to eat any fats at all. My diet must be 100% fat free. I am not sure that this is totally humanly possible for anyone. For instance, the plant based spread I use sparingly as a butter substitute, or nuts, or the fish I eat a couple of times a week, or the little bit of olive oil in my cooking must be completely cut out. At that point, I think eating out would be completely prohibited, too, as we have no control over what is in those foods.

He also said that even before taking Juxtapid, adding psyllium (or Metamucil) to my diet will also remove any fat or cholesterol I am eating now, even in small quantities and it will lower the numbers by 10-15%. The percentage is small, but I will take it. Because my liver is so critical to me (if you have not gathered that by now!), I am willing to try things that are known not to damage it. I have way too many problems already to add liver failure to them, I think.

I also asked about whether it would be important to the raise my HDL which, for me, has always been low. It is 33 mg/dl now. He admitted that he does not know how to improve that. He said beyond a glass of wine and nuts daily, there is nothing medical that can improve the HDL.

Right now, I am in a 'research and wait phase': I am researching Juxtapid and Enduracin, and I am waiting the results from my cardiac tests (the holter monitor and the stress test). I am nervous about removing half of the dose of Lipitor from my regimen, because Lipitor has helped so much and I have gotten where I can tolerate the side effects from it now. Removing it, playing with the dose and introducing a drug that we're not sure it would work, or that it would be safe in the long run makes me very nervous.

And then, there is the Niacin. I really think that's an old school remedy, with little success for FH people, but … should I give it another go hoping that the drug has been improved over the years?! And that's just the thing: is it a drug or more of a supplement which is very little for a disease like FH which seems to be affected only by powerful drugs, not supplements and diets? With everything I am taking together, adding anything or taking anything away changes the balance not only in treating the cholesterol, but also in the way I feel and in the way I can (or cannot) manage all the side effects. There is also the Warfarin to keep in mind which is affected by anything new, and which is worse: it is all processed in the liver.

And then there is the nagging question: Are my numbers really the lowest they can ever be and we should just not bother the magical mix of drugs and diet we have found to achieve them?! Or is there such a thing as trying more/ harder drugs to get those numbers evern lower?! I wish it could be a clear-cut answer. But all of us who have navigated this ship before know that it's mostly a guessing game.

Happy Holidays to all, and I wish you all good health and easy decisions in the New Year!

A Big Move. A New Start. Managing the Same Health Challenges through It All

Why, hello, everyone!

You must have thought that I fell into a black hole lately, for not updating the blog for some time now. The reason of my temporary absence is that I have moved recently. Big, cross-country move. We moved from Utah to North Carolina at the end of October.

And we have been busy with everything that such a move entails: selling a house, buying a house, figuring out how to work remote, looking for a job (for my husband), registering cars in a new state, registering us as new inhabitants of the new state – you catch the drift. Busy, busy, busy, for the past several months.

Because I have the body that I have, I had to worry about many additional things in the moving process that had nothing to do with the bureaucracy of the move or its stress: while traveling across the US and not being able to cook for myself, will I be able to find enough food to live on for days with just fast food places as options? Will my INR get all messed up because my routine and my weather will change drastically? Not to mention my stress level. Will I be able to keep my Praluent cold enough in the camper's fridge, to be able to take it every two weeks, as scheduled? Will I find a new doctor/ cardiologist/ lipidologist, and how soon after I move?! And ultimately: will my heart be able to live through all the stress, the worry and the amount of work necessary for a move like this?!

Some of these questions have already been answered. And if this trip has taught me anything, it has taught me that I can fake being a 'normal' human being pretty well. Outside of the two weeks I took off from work, for the actual move, work has not missed a beat. The availability of the internet is pretty amazing in this day and age. The Praluent did fine in the camper, and for a while it was not even in the fridge: it was in its original Styrofoam box with its original icee for 3-4 days and it stayed cold. There was one dose due while we were on the road, and I took it in the camper. Now, if I were to travel abroad, I am not too sure how I would keep it cold for a while, but cross-country in a camper (in a car, too) would not be a problem.

I have read recently (http://www.empr.com/news/alirocumab-praluent-storage-refrigerator-room-temperature/article/687136/) that the requirement that it must stay refrigerated has dropped, at least for a limited time frame, so you might want to look into that option, too.

My INR was 2.1, which is within my range, at one point when I did check it on the way. Once we arrived at the destination, it was fine, too, till I had to be on antibiotics for yet another UTI, and then it went to 2.9. This value is high for me, but way within normal range for many mechanical valve patients, so not too-too scary.

Testing my INR somewhere in America, in a campground. Accompanied by my morning bag of drugs. 

And that's the other thing I worry about while I travel: the UTIs which seem to always be connected to that! I have mentioned this before, I think, here: I have had up to 5-6 UTIs this year. The last one I just got over was accompanied by fever and chills and it was definitely the worst one yet. I have no idea why I have them so often, but they always seem to come sometime after or during a trip. And they make me crazy! I am thinking that either the infection will go to my heart (especially when I get fever and chills), or that the antibiotic will either kill my liver with everything else that I am taking alongside it or will make my blood so thin I would bleed to no end! These are real fears and real thoughts that keep me up at night. But somehow, the sun has risen every morning, in the East, like you would expect, and I am still here.

Life is a miracle, I tell you that much!

Once I moved, one of my previous caretakers (a lipid specialist and nutritionist) that I used to visit last time I lived in North Carolina recommended a new cardiologist close to my new home town. So, I have been able to actually see a cardiologist since I moved, even before I acquired a primary care doctor. The cardiologist did a cholesterol and a liver test, and the new numbers are included below. As you can see, my LDL is stubbornly hanging at 145 – and she said that in her opinion “the LDL can never be too low” and she wants it way, way, way under that number, and even lower than what the recommended range is. Of course I feel like therapy-wise they are throwing the kitchen sink at me, so what else could I possibly take?!

November 2017 Lipid Levels

She is scheduling me to see an endocrinologist who is also a lipid specialist. So, we will see what else he recommends.

In addition to the regular cholesterol levels, she also tested my apolipoprotein B (https://en.wikipedia.org/wiki/Apolipoprotein_B) which is another indicator for LDL cholesterol.

In the materials I have found online, it mentions that the normal ranges are within 40 and 125 mg/dl. My cardiologist's nurse emailed me that what they consider a normal range is between 54 and 133. Mine is 135. From what I have read, apolipoprotein B is supposed to go down to normal levels with statins. I never got it tested before now, so I am not sure what my sans statin value is, but apparently, even with a high dose of statins, mine is still high. I suppose that's understandable.

This new cardiologist being new to me, she is, like many doctors before her, pretty freaked out about trying to manage all this and my heart disease on top of it. So, she is deciding to have me see the endocrinologist lipid specialist for the cholesterol management, while she will manage my heart disease. I was spoiled before, with a lipid specialist and a lipid research geek for my cardiologist (all in one person), but we will have to see how this approach will work going forward.

All these years of testing my levels I have to say they are always new and always deja-vu for me, at the same time … I almost never expect my cholesterol levels to be anything but high and not to wow everyone. But one thing that is a surprise from time to time is my liver levels. They are about 90% of the time normal, but every once in a while they jump! Usually, they jump when someone is switching out my statin, but this time, there was no change in my cholesterol/ heart medication, and my ALT jumped to 102 (normal up to 54 U/L) and my AST is 54 (normal up to 41 U/L). When my liver enzymes jump, I get very scared, because everything I take has a potential of damaging the liver, and I know that the damage is irreversible. This time, there was no change in my medication at all, and I really don't know what caused them to be high (especially the ALT).

But this is why I continue to always check my liver, every 3-4 months, because you just never know when it decides to tell me that it cannot carry all these drugs' weight any longer. I just think it is so important to understand how these drugs we are on affect our entire body, not just the disease we are trying to manage with them.

My cardiologist's guess is that it's because the antibiotics that I took for my UTI for two weeks before I did the liver test. So, for now, she is repeating the test in a week to see if the enzymes go down. If not, we will start looking elsewhere for causes.

I will keep you posted!

My Life. My FH. My Family.

How each member of my family deals with FH in their own way. A special installment for FH Awareness Month

I was never a momma's girl, like my sister. But there are two moments in my life when mom and I had a bond stronger than anything else. Stronger than any other bond that I have forged with anyone else.

The first one I can't remember, but it must be the day I was born. That first moment when she held me in her arms, as her first born must have been something very special. And it was special for me, too, I am sure, to see for the first time the face of the woman whose stomach I kicked for months.

The second one was the day my FH was essentially discovered. My mom was the person who was testing my blood, and trying to measure my cholesterol for the very first time in my life. As a biochemist tech in a hospital, it was her job to test the blood and see what the level was. I said “trying to measure my cholesterol” because she could not measure it right off the bat. Her machine was calibrated to only measure up to 5 mg/dl of cholesterol. Mine was much higher than that. The machine was giving her an error, meaning it was higher than what it could measure.

She had to do some magic chemistry tricks, with dilutions and what not, to figure out mathematically what my cholesterol was. So, my first value (she set it as 734 mg/dl) was a calculation, rather than a straight up measurement by a machine. It was my mom's math.

At the time, they did not call my condition “Homozygous FH”, or at least my parents were not calling it that. They were calling it “a very severe form of FH.” In those days (1983), they believed that my levels occurred in about one in a million individuals. Can you imagine: your first born has this very rare disease, she is one in a million people on Earth, and your hands, and your knowledge are the ones who testify it to the world?! That must have been the second pretty special moment for mom and me, too.

As they say, if you have found one FH patient, you have found a whole family of us. And this is always the case. We already knew my father had FH. His cholesterol has always been in the high 300's and low 400's. His father's cholesterol had always been in the mid to upper 300's. My father's father had his first stroke when he was 48. His second major one, at 50, left him paralyzed and bedridden for the next 12 years of his life. He died at 62.

My mother's mother (the only parent she knew really well and was still alive when I came along) had low cholesterol, so mom never tested her own. She always thought dad is the only one in the family with high cholesterol, and that he and grandpa gave it to me. It was not believed then that the “very severe form of FH” that I was diagnosed with could potentially come from both parents.

As mom grew older, she tested it, more of a curiosity than a necessity, she believes, and hers was always elevated, too. But she always thought it's because she eats badly. In Romania, the food is all home made, and very rich in fried oils, mayo, and red meats. It was not until I was finally diagnosed positively with Homozygous FH (this year, at age 42) that it was clear to us all that both of my parents have FH. She now believes it, too, as she finds lypomas on her skin, as she ages, and she has also been diagnosed with high blood pressure, cardiovascular disease, and heart failure.

And my family bonds don't stop just at my parents. My aunt, my father's sister, has always had high cholesterol, too, in the upper 200's, mid 300's. She has had over the years multiple stents inserted in her peripheral arteries, and about a month ago she had an ischemic stroke. She has a-fibrillation, tachycardia and arrhythmia – all caused by vascular disease because of high cholesterol. She is 67. She had her first stents put in in her 50's.

My sister has been formally diagnosed with FH a couple of years now. Because her levels are not astronomically high like mine, she, too, believed, it comes from her diet. But she lives one of the healthiest lives I know. She takes virtually no medication and she eats healthy, she runs and she lives in a huge city. She can't drive, and she has a one hour (one way) commute every day – she takes multiple public transport options and she walks. Her cholesterol is still higher than normal (low to mid 200's). It took some time for her to believe this is FH raising her cholesterol and not the chicken she was occasionally eating.

This year, her youngest son, who is six, was diagnosed as “borderline FH”, because his LDL is 170 mg/dl – somewhat high for anyone, but especially for a 6 year old kid with a very healthy diet.

And this is my real life FH family … as far as we know. So far, both my grandmothers, as well as my oldest nephew are the only immediate blood-related relatives that have not been affected by it.

It is interesting to see how we each decide how to live with it, and how we deal with it every day. There is the free will component in the way you deal with any disease and I have learned over the years that it is ours alone and it is not to be judged, even when you don't fully understand it. Or especially when you don't fully understand it.

I have lived my life with many doctors' appointments on my calendar. I always want to know the most there is to know about how much damage cholesterol has done to my arteries. I know my levels, I know my heart numbers, I know when I am due for my next investigation. I do an echo and a carotid ultrasound every year and I have cardiologist appointments every 3 months. Because I always know, I managed to have a very involved heart surgery that cleaned out my clogged up heart parts at 42 and undoubtedly extended my life by many years.

Without having been in the know about my levels, the damage that's being done to my arteries, and having been monitoring my heart and circulation closely, without having been on medication to keep my levels low (although still high by all other standards) for the past 20 years, I would not have made it to 42 and beyond, almost surely.

I also have chosen very early on to not have kids. I see no personal purpose into propagating this disease, and committing someone else, an innocent human being to the life I have lived. It's been a good life, but that is my judgment. Someone else might have seen it as a burden and I do not want to give that burden to anyone else, consciously. It stops with me, when I could control it.

My sister chose to have kids, and I think she is brave. She is also some days in a state of denial, because she still believes diet and exercise will keep her values healthy. She finds out the hard way that is not true. She does take drugs now, but not as religiously as she should – she does not tolerate statins as well as me, either, so it's not easy. She eats well, is not overweight, is very active and she sees her cardiologist every 6 months. So, she is definitely working to know more about her body and keeps a close watch on the disease.

My aunt only decided to do something about her cholesterol after the complications from it hit her hard. She did not take statins or heart medication before she had stents and the stroke. Although she is medicated now for the complications, she is still not medicated for her cholesterol. She does not keep a strict diet and she is overweight.

And then, there are my parents. Both of them have visible lypomas which give the FH away. They both have high blood pressure and cardio vascular disease. My dad has almost no peripheral circulation left in one leg and about 50% left in the other. My dad has been suspected of having mild strokes in his 50's already, but having not left visible signs in his mobility and mental behavior, they are not sure. My mom takes statins and Zetia occasionally, but not religiously. They both take heart medication. Their cholesterol levels are in the mid 300's constantly and their blood pressure is almost always high.

Both of them don't believe in diets, or exercise, because they think even with a healthy diet and an exercise regimen their cholesterol would still be high. They are correct, but I am sad, because their extra weight and fat diets are putting even more stress on their already strained hearts and brains. They don't even get regular physicals, and they only go to a specialist when something is definitely so wrong they can't function.

My parents are of a very old and very Balkanic mindset that we all owe a death to God and one day, sooner or later, we will die of something. They see no point in trying to push that death as far as we possibly can, at least the death from this disease. They also don't believe in 'quality of life' – their quality of life is miserable right now, but life 'is supposed to be hard' and 'you're supposed to be sick in your old age'. They are in their mid 60's and have been sick with the complications from cholesterol for most of their adult life and believe that after 50, you are certainly old and not expected to be healthy at all. Therefore, they see no point and no value in medication. They only take it when it's too late, and only to treat the symptoms of the disease, not to prevent any damage from it.

There is still to see how my little nephew will handle this, but my sister and I are trying to be good examples for him. So far, his mommy, my sister, is monitoring his numbers and watching his diet. He is too young for statins yet, and his levels are still borderline high. But this will be something he will have to watch in himself and possibly his children, too.

As you see: we all chose to deal with this very differently. You can do some things, and you can do nothing, but the effects of FH are pretty much the same. Now, they are known and they are manageable with medication, or, in my case, with surgery, too, but you have to be willing to manage them.

I have tried to use my own story to teach others about FH and share with them my journey, what to expect, what are some brighter spots of hope. My family knows about this journey way too well. But there is a difference between knowing and acting. If they have taught me anything is that you should share freely without putting strings on that sharing. However close to your heart some people might be you may never convince them to see what you see. I know – this is platitude.

I cherish every one of them for sharing this journey with me, so it feels less lonely. I also am deeply grateful that they gave me this disease – this has made me who I am today and I am happy and grateful that it has taught me so many things about my body, our health and how not to take even one breath nor one heart beat for granted.

And as chance would have it, there is yet another connection with my mom: The FH Awareness Month is September, which is when she was born. Happy birthday to mom and happy awareness to all of you! I found in my own life that being aware and knowing the risks, the numbers, the progress of this disease can ensure you are here, on the right side of dirt for many years beyond your original prognosis. If you learn about this disease now, I hope you find out all the people in your own families that might have it, and I hope you find the drive to manage it well into your advanced ages.

May your paths be adventuresome and leading you to good health and long years ahead! If you're still looking for more resources about FH, check out my Helpful Links section, or drop me a note. I'd be happy to share more!

Denied, and Then Approved. Again

If you have followed this blog regularly, you know that I have had trouble in the past being approved for my PCSK9 drug, Praluent. There is a whole process you have to follow to be approved for this drug by your insurance company, way long after a specialist doctor decides that it is your last resort.

I have outlined this struggle and the positive outcome from my last encounter with denial to be approved for the drug in this entry, earlier this year: https://livingwithfh.blogspot.com/2017/04/a-helpful-health-insurance-alas-there.html.

If you read that entry, you'll see that this insurance liaison helped me get my appeal approved, after having been rejected a few times. That man asked me to reach out to him directly should I ever encounter any problems with my approval again. I knew that offer was not going to be left hanging and that I will need his help again, and so I did just recently. But I am jumping ahead of myself!

So, after being approved for Praluent, finally, in the beginning of this year, I had to again obtain a pre-authorization from my insurance for my specialty pharmacy to be able to process my prescription renewal this August (after 6 months). It works like this: the insurance faxes a form to my doctor, and as the insurance representative and the pharmacy manager assured me last time, all they need to see is that my cholesterol level stays low on this drug, to ensure that the drug is still working. So, all they are asking the doctor on the form is what my LDL is, and what it was before starting therapy. Now, I would think that if the cholesterol level is not low, the doctor would not even prescribe the medication, right?! Why would they put me through a treatment that is costly (for anyone), risky (as we are yet to know the full spectrum of long-term side effects of this drug), if the drug is not working for me?! But I know: I ask silly questions!

So, this August, I get a letter from my specialty pharmacy telling me that my pre-authorization has been denied to renew my Praluent prescription, because my doctor has failed to send documentation that shows that there is a reduction in the LDL level while taking this drug – I paraphrased, but that was the gist of it. I was confused, because my LDL level before Praluent was 260, and my last level was 160. So I know my doctor has these levels and his office would have provided them, if needed.

I reached out to the same liaison from my insurance that helped me before, and the whole misunderstanding (again) was cleared up in less than half of a day. It turned out that all that the insurance company received from my doctor with their original request was the “fax form” (I imagine it to be like the fax cover letter with my general information on it), and not my medical records. When he intervened and they requested the information again, they received 26 pages of medical records. After reading those, they approved the pre-authorization for Praluent on the spot. When they received just the “fax form”, they turned around and denied me, without so much as to pause and ask themselves “hmm … maybe there was a fax line interruption and the rest of the pages are missing and we might need to call the doctor and make sure there is nothing else coming”, or something. Anything. I spoke about the broken processes in the medical world in another entry (http://livingwithfh.blogspot.com/2017/08/medical-non-care.html), but they abound, in my opinion, at every level.

This time, the insurance also approved me for a whole new year, instead of the original 6 months. Again, if you have read in the past: so far, I have been on Praluent for 18 months (give or take a couple of months when the drug was denied and I didn't take it), and I needed a pre-authorization from my insurance every 6 months in order for the specialty pharmacy to fill the prescription. After 18 months, the renewal is now required just every year.

I will have to say, it was helpful to have this relationship and be saved an appeal, or several.

I still believe that there are still a lot of rusty links in our processes. Maybe these medications are still very new, maybe the drug processing folks are still too little trained, what have you: if you are on any of these drugs, or any drugs where documentation from the doctor to verify your condition is still needed with every refill, be vigilant and act fast to stand up for your cause. I have made this connection with the insurance person through The FH Foundation who has introduced me to him as they knew about my difficulty to obtain an approval. Your employer (if you have your insurance through them) should have an advocate for your insurance that you can connect with for such cases. I will continue to do my share to push for more changes, more efficiencies to ensure they finally get the message and that filling such drugs gets to be routine for them, but sometimes, it might take a whole village.

The good moral of this story, however, is this: that the insurance companies and the specialty pharmacies, albeit marred in bureaucracies and lack of patient understanding at times, are willing to listen and learn. Or at least some of them are.

The Long Journey to HoFH

Well, it has been a long journey, of about 36 years, to diagnose me with the correct kind of FH. 36 years. I have thought that I have known everything there is to know about this disease, and definitely everything there is to know about my disease. But as so many times before – there is still so much more to find out.

As I have said before, it boggles my mind how misdiagnosed or undiagnosed FH is when it is so easy to test for it. I knew I had FH at the age of 8, which is relatively early, so I have always considered myself one of the lucky ones: I have known to keep an eye on my numbers, on what is new in medicine and on all the other diseases that are triggered by it.

But there was at least one more 'x' in the equation which was not solved till last week: I have, in fact, Homozygous Familial Hypercholesterolemia (or HoFH: https://thefhfoundation.org/about-fh/homozygous-familial-hypercholesterolemia – this link will explain what it is and why it is different than the other type of FH, the Heterozygous kind, or HeFH).

Over the years, there have been guesses. About 50% of my doctors have told me that I might be HoFH, and yet another 50% were sure I was HeFH. The difference in their opinion was usually explained like this: because my levels were very high when unmedicated (730mg/dl when I was a kid, 520-600 mg/dl as a young adult), some doctors were sure I am HoFH. They generally believe that HeFH levels don't usually go above 400mg/dl. For the other group of medics who believed I am HeFH, the reason for their picking that form of FH instead was that I was responding somewhat to medication. Some people believe that HoFH patients don't respond as well, or at all to medication.

Although my cholesterol has yet to be truly “normal” (the LDL was still 150 mg/dl last time we checked) now that I take several medications (http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html), it has gotten down a lot over the years. I also have never done apheresis. For this reason, some doctors believed I had the HeFH form of FH.

Why is it important to find out?! Because it can make a difference in your treatment. There are medications that are approved only for HoFH patients that I have never been exposed to, nor talked about to, because there was no clear evidence that is my kind of FH.

I have known for a while that the only positive way to know the kind of FH you have is by ordering a genetic test. This year, I went to a FH Foundation training for their advocates. There, I made a lot of friends (I am speaking about this experience in this entry: http://livingwithfh.blogspot.com/2017/06/when-i-met-my-extended-fh-family-and.html) and some of them had done their genetic test and they were sharing the information about how specific the results are, how they give you the exact gene number that is pathological, what mutation you have, and which protein you're deficient in, etc. One of the leaders of the organization piqued my curiosity when she wondered out loud whether I had He or HoFH, knowing that my cholesterol levels were in the 700s from early childhood and understanding my early history of cardiovascular disease. Hearing her suspect what I had also been wondering about finally broke the medical camel's back and I decided after our training to find out for sure.

The specialist doctors they invited to this training also got into great detail about why not two FH conditions are alike and why it's important to know exactly what condition you have, to address it with the correct treatment. If you have not checked this resource yet and you are looking for more information about your disease and options for treatment , check them out (thefhfoundation.org).  

This test is not, however, as routine as your cholesterol check, as you can imagine. You would have to work with your cardiologist or lipidologist and they usually work with a genetic lab that can perform the test. I looked into it with my own cardiologist (who is also a lipidologist) and he referred me to this genetic lab for the test. So, for my unsatisfied curiosity, and possibly for a more accurate treatment, I researched the options I had for a genetic test with him and the lab.

And, last week I got my result and at the top of the page it's clear as day:

“The individual is homozygous for the p.A540T likely pathogenic variant in the LDLR gene.”

Apparently, I got this particular gene from both my parents, as I have 2 identical ones (as I understand it) that are 'sick': p.A540T. The results go into more details about which exon of the gene is affected and which nucleotide position, as well as what other names this mutation is known by. If this all sounds like Greek to you, know that it does to me, too. I am taking baby steps to figure out what it all means, exactly. You can then take all this information to Google and find out more about the research done on your specific mutation.

The process to being here today, with the diagnosis in hand, was a bit lengthy for an impatient human like me, but … I would recommend it to anyone that has access to it, as it can be well worth it for the accuracy of your treatment.

It started, like I said, with me bringing it up to my cardiologist. He was in the HoFH camp, and he agreed that he would be curious to know for sure, too. Doctors don't typically recommend the genetic test, I believe, because this test is mostly not covered by insurances and it is not cheap. So, they don't bring it up with patients because they know people won't most likely pay for it.

The doctor called the genetic testing company, and I got a phone call from them after about a week from my phone call to the doctor, to confirm my address. After about another week, they sent me a package with a couple of things inside:

• A test tube where my sample of saliva would go
• Instructions about how to safely obtain a sample
• A FedEx self-addressed envelope to return the sample to them
• A form where I specified what gene I want them to test (I wrote in “familial hypercholesterolemia” - I am always sure not many people even in the medical field know or refer to it as “FH”), some other personal information, and my health insurance information.

The test tube used to collect a sample of saliva for the genetic test. 

I sent them the sample with a copy of my insurance card and the form and I got another phone call from them to tell me they have received the package and have called my insurance. They said the insurance will pay for most of it, but there is still a $500 co-pay that I need to pay myself. I had to verbally agree to pay it, or else they would not have gone on with the test. In addition to my health insurance I have an HSA account and I had money in that account that will pay for this. So, the payment portion worked out.

About 3 weeks later (we're about 5 weeks into this whole thing now), I got a voice mail from my doctor: they had received my results and I am HoFH positive, and we shall talk more about this on our next appointment. He left the voice mail on a Friday. I called my nurse the following Monday to ask if I can come by to pick up a copy of my results, as I needed it to research more into this. I was expecting the company who sent me the sample kit to send me a copy of the results, as well, but that was not the case.

This is not a complete DNA analysis by any means: they simply test for the gene you request and that is all. They are not going to do a complete genetic profile with such a test. So I didn't find out interesting things like I might be Russian or something … They just test for this one gene and whether there is any pathology associated with it or not. They also tell you that is not 100% accurate and the doctor warned me about that, also.

I started researching right away this gene mutation that I have to understand what the connection might be between this specific form of FH and the treatment I should be under. So far, I have not been successful to find such a connection, but I have my appointment with my doctor coming up, and I hope that will answer some questions. As I mentioned before, I know that there are drugs that are approved only for HoFH, which I have never been on before. So, when I thought I have tried everything that has ever been invented for this disease, it turns out: I didn't. No idea what kind of door this new finding is opening, but I just know that I will be learning a lot yet, and looking at this life-long disease I thought I knew in and out in a new light.

Through the FH community, I have made contacts with other patients or parents of patients, and they sometimes send me information about various things. One of such parent sent me a link to this website, where you can localize your gene and find out more details about it: http://www.ucl.ac.uk/fh-old/muttab.html .

It is pretty interesting. For instance, my gene is found in the UK, Germanic, or Icelandic ethnicities. I guess this makes some sense, as I knew for sure that I am German on my father's side. I have found other information online about this specific gene, but most of the results are in .pdf format. If you know your pathological gene, just do a Google search for it, and you're bound to find more information (doesn't Google just know it all nowadays?!).

I will have to say that all the information I have found online so far is not very easy to consume. I have found a number of medical treatises that are very scientific and very dense. Not your regular brochure you pick up at the doctor's office. I almost flunk genetics in high school, so I don't converse very easily in genetic-ese, but I am trying to absorb as much information as I can from what I can find online to at least understand how genes work and to formulate some questions for my doctor. I will come back with more of what I learn from my doctor, too, and update here.

Some things did make sense, in my short research so far: I know now that each of our parents have 2 sets of genes. They pass onto us one from each of their sets, and we end up with two genes of our own (one from each one of them). I knew for absolute sure that my father had FH, and I have suspected all my life that my mom had it, too, although she argues about that (she just says her cholesterol is bad because of what she eats, but … I don't think so). My mom's parents divorced when she was 3 and her dad died shortly after that. She had no relationship with her dad's family, so we don't know anything about that side of her genes. Her mom's cholesterol was always normal.

Now, I could positively tell her that she indeed has FH, too, like I suspected, just from my test. My mom is probably HeFH, too, also based on her numbers. So, it turns out, mom had one good gene and one bad, dad had one good gene and the same one as my mom's bad (my parents are not related in any way, that we know of!), and they each passed on the two bad ones to me. My sister has just been officially diagnosed with FH, too, as well as her youngest son who is 6. Their levels are in the HeFH range, so she probably got a bad gene and a good one from our parents, but she is also submitting for genetic testing as well, to find out for sure what form of FH she has. We always say that if you find a patient with this disease, you have found a family – and that is so true!

No matter what you find out: if you can afford it, I would advise everyone to get this test done, just to ensure that your specialists will have the full picture and they will know what exact tool from their arsenal to work with for your case alone. I have seen so many different treatments in all the patients that I have met that there is no “one med fits all” when it comes to FH. So, the more information you have about your specific type, I think the faster you are on the way to finding what works for your body alone.

There are a couple of sheets in the package that came with my result to help you understand FH in general – those were things I knew, overall. There is also a list of recommended resources and the list is:

• National Society of Genetic Counselors (www.nsgc.org)
• Canadian Association of Genetic Counselors (www.cagc-accg.ca)
• The FH Foundation (www.thefhfoundation.org)
• Genetic Information Nondiscrimination Act (GINA) (www.ginahelp.org)

Good health, you all, and never stop searching for answers!

Fun with a Purpose

“Let us not look back in anger, nor forward in fear, but around in awareness.” (James Thurber)

It's very easy, if you or your child has been diagnosed with FH to look back in anger (“Oh, no, why did I get dealt this crappy hand when the gene pool was divvied out?”). It's just as easy to look forward in fear. In fear of dying young, or being debilitated for life because of a massive heart attack or stroke. The fear of limitations, of not being able to afford medical care, and of not being able to fulfill your dreams.

I have always wanted to share my FH experience to hopefully let people like me know that they are not alone. This year, I have decided to take this venture of sharing my story a step further: I have become an “official” FH Foundation Advocate, after I attended their training in Washington, DC (http://livingwithfh.blogspot.com/2017/06/when-i-met-my-extended-fh-family-and.html) Most of the things I have heard there, I already knew about the disease and what life with it can be. The one thing that really shocked me and will stick with me forever was the number they shared of how many people have not been diagnosed with this disease. That number is 90%. Just think about it, and take it in. If you have 10 people in a room and all of them are FH people, 9 (nine!) of them do not know they have it. They can drop dead at any point of a heart attack or a stroke and they could have prevented it, had they known and been on the right medication. 90%!

The only thing they need to survive is awareness. And we, those of us who know, can, or must do something about this, I feel.

I have always been a shy person, socially. I do fine in one-on-one interactions, but in front of crowds I wish my stomach would start chewing myself in alive rather than leaving me present to face the world. So, when I signed up to be an advocate, and get in front of people, meet strangers, be in uncomfortable situations and speak to people I'll never see again about this disease, it was like I was drugged up and following a day dream: what in the heck was I doing?! It seemed real, but barely. Who did I think I was to think people would listen to me?! I still think that, and yet, when given an opportunity to be out there and share a little bit about FH, I am taking it, nerves and all.

Today was such an opportunity. I live in Utah, and one of the most anticipated events of the summer here is a cycling race, The Tour of Utah (https://en.wikipedia.org/wiki/Tour_of_Utah). One of the teams, the BMC Team, has partnered with The FH Foundation to create awareness about our disease. I was asked to be present at the race, and give the partnership a voice in social media. I have never done this before. I was a wreck days before the race. But I didn't say “no”. That 90% number has been hovering over my head like a bad, heavy cloud.

The Utah Capitol in Salt Lake City, the starting and ending place of the race

The FH Foundation's logo on one of the BMC Team's cars

I am thinking: if just one person out there on the field sees my cool t-shirt with the FH Foundation's name on it, if one person reads one of my tweets, or Facebook, or Instagram posts and goes and reads about “What the FH?” this is about, well, there are your four more people in that room that will know what it is and maybe get tested for it. And maybe they are saved from that short-lived life, or debilitating existence. Maybe. We hope.

So, I went through with it. The experience was great, mostly for me, but I hope, ultimately for the FH Foundation and for someone out there who got to see me and get exposure to the FH concept. It pulled me out of my comfort zone, I did have to talk with strangers, and I did have to ask them to take pictures of me, let me ride in their event car, and make conversation with me. And I talked about my story with at least one of them. A couple were listening in. And I messaged it, shyly, but surely, on all my social avenues. And the word spread, as others shared my posts.

The BMC camp

My husband was there, too, loyally wearing his FH shirt, and cheering me on. He pointed out how ironic it was that I am representing my disease through a team of cyclists, when I cannot even ride a bike. And that is the honest truth. I can't. But life is beautiful because it's strange sometimes, and you can't deny yourself experiences because of some silly incongruities, right?!

The people on the BMC team were so kind, accommodating and inclusive that I immediately felt at ease. The team was gracious to come out and take pictures with us, even if they were, probably, exhausted, after racing for six days (this was their last), at very high altitude and in desert heat that has hovered around 90's and 100F during the past week.

Kate was our liaison from the BMC team. I am telling her my story

A picture with the team 

We met them right next to their team camp, where their team bus and cars were parked. We “met and greeted them”, then took some pictures, and off they went. Their cars get to follow the cyclists for the whole race with equipment, in case some emergency happens and they need to fix a bike, or replace it, I guess. The personnel in these cars work as hard (they think not as hard, but …) as the bikers. They follow every move of every one of their team mates who are riding on their phones and iPads, and they must be prepared to sprint forward if their team needs them. This means weaving in and out of the caravan amongst all the other bikers and cars that are ahead of them at very high speeds, and with people standing on the curb watching inches away from the course. It was fascinating! I felt like I was riding in a Formula One car, only better, because we were running red lights throughout the city, and jumping over speed bumps with our eyes on the target: our team, and the finish line.

Off we go, right before we took off in the BMC car

The stage had several laps today of the same route through Downtown Salt Lake City. My husband and I got to ride in one of their team cars on the first lap. It was such a fast pace, and I was so excited to be witnessing this breakneck experience that I forgot at times to turn on my video camera to shoot some of the most interesting parts of the lap.

At the Finish Line

It was a huge learning experience for me, just about the sport, and about this kind of competition, so I am doubly glad I went: for the benefit of getting the FH name out there, and to enhance my horizons from this new understanding. We learned about who they were (although they are called “BMC Switzerland”, they have guys from Italy and America on the team, too), that they had already won one of the stages of Tour of Utah (that is what a day of racing in a tour is called). They also won the team classification overall, meaning, that over all the stages, their time together as a team was the best of any team in the competition. Go, BMC!

A couple of BMC cyclists finishing the second lap

As a heart patient who struggles to walk up a flight of stairs at normal speed, I was humbled by all their hearts and what they could do to carry them on through this incredibly taxing exercise. I was also impressed by all the technology that the event displayed: everything, from the monitors hooked up to the cyclists' chests which were connected to the screens on their handlebars, from the iPad+iPhone+radio system in the team's car, from the many screens that displayed every second of the race to the helicopter that was taking aerial shots – everything was tech explosion.

Some of the technology in the BMC car

After our lap was over, we cooled off in our air conditioned car till the race closed and we sent feeds to the social world about what we had just witnessed.

To those of you out there who are considering being an advocate for FH or for any other cause, I would advise you to just do it. Whatever you do, no matter how little or big, just remember: a pair of eyeballs from somewhere will fall on you and someone else will be, through you, one experience richer. Just sharing who you are, your thoughts and what you see every day through the eyes of an FH person will make this world our richer, more knowledgeable, and ultimately fuller. That fear of the future will be a little bit less for all of us. 

Watch this video to feel the experience of being there