Sunday, September 10, 2017

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!



Friday, August 25, 2017

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.

Monday, August 14, 2017

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:


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


Sunday, August 6, 2017

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

Wednesday, August 2, 2017

Medical Non-Care

How doctors' offices screw up ... 

I have spent almost my entire life in doctors' offices. Ever since I was eight and I was diagnosed with FH, I have felt like everyone's Guinea pig. As I have grown older and my health life has been more and more complicated by this disease, my visits have only increased to the point that I feel like I go more often to a doctor than I go to the grocery store. So, I consider myself a pretty good resource to know what you can expect at a doctor's visit.

I have seen all sorts: people who are brilliant and on top of their game, people who are caring and nurturing and sympathetic, and people who make me wonder how in the world they ever made it past the door, much less past the interview and the hiring police for their role.

In recent years, I have been amazed at how often I meet simply incompetent medical staff. I grew up with an RN for a grandmother and a hospital lab bio-chemist for a mother and with many of their friends in all medical fields, from a flebotomist to a chief of staff in a hospital. Until recent years (let's say 7-8), I have never met a doctor or a nurse who simply cannot take a blood pressure without a machine. Nowadays, this is the norm, not the exception. I know what my blood pressure is, and it is usually very weird, because the gap between the two numbers is very large. Almost 90% of all the nurses who take it manually come back with “120 over 60”, which is the textbook pressure. Mine is never textbook. Ever. Not on my best day! So, I know they're making this up!

Like I said, medical experience runs in my life and in my family. I know way too well about the long hours, crazy schedules, on call nights, ungrateful patients, nasty business of being a medical professional. However, with all that in mind, I have felt like the level of care I am receiving as of late is not what it used to be. I don't think I am entitled, but I do think that asking someone to pay attention to the details when it comes to our lives and when it is what they get paid for is not too much to ask.

This is just an example, easiest to give. But there are many. I can never run out of examples about bad office nurses, but even doctors can be bad, too. I have had doctors who have told me “well, you should really google that, because there are many symptoms for what it could be, so I am not sure which one you would have”. Or others who tell me “well, yeah, your (cholesterol and heart) numbers are not normal, you have cardiovascular disease, you have carotid stenosis, your breathing is shallow, you're allergic to half of the food pyramid, and cannot eat half of the other for blood thinning reasons, but other than that, you're healthy, right?!” I am wondering what “other than that” is left.

I promised myself that I will write a book about every time I walk into a doctor's office and something just baffles me about what they do, or about how many times I feel smarter than them. One day, I am sure I will.

But right now, I want to just record, for posterity, this event which happened today, as I went to my cardiologist's office to test my INR.

I will just replay the whole instance of what happened here:

I walk into the nurse's office, and the INR machine is blinking with a number. Normally, when the number is blinking, you will need to push M on the machine, for “measure” and then the machine is ready for you to test your blood sample on the strip inserted in the machine. You cannot put the blood sample on the strip till you hit M and then machine looks ready for the measuring.

Her number is blinking, and she is not pushing M.
She pokes my finger, and squeezes it hard. A lot of blood comes out, and she wipes it with a clean cloth. Now, there is no blood. She squeezes it again, and lots of it comes out, again. Then, she wipes it again, clean. All the blood – gone. Then, she pushes the M on the machine. The machine is not ready yet. It's taking a while to give us the OK that it is ready. A third time, she squeezes my finger and only a little droplet of blood comes out. The machine is now ready, and she is mad: “Well, this is hardly enough blood now. This won't work. I believe we're having machine problems today.” Umm...no, no, the machine is doing exaclty what it's supposed to be doing, but you're having you problems, because you squeezed all the blood out and nothing is left, so now you have nothing for the machine. Why did you wipe it twice when you had it plenty?! - I am thinking, not saying anything.

She puts the very little blood on the strip and the machine errors out. She starts the same ritual again, only now, after she pokes my second finger (which was completely unnecessary, had she done the first one on time and without wasting the blood), she pushes the M button and stops wiping my blood off. Now, we have enough blood, and the machine measures it. 1.6 – yippee, I am in range, so we're good.

Nurse: well, that's too low.
Me: no, it is not. It's within my range (which is 1.5 to 2.2).
Nurse: oh. (looks up something on a printed piece of paper where my regimen is already printed – whatever happened with electronic medical records?) Oh, you're right, we're good. Let's go over the numbers: you are taking 3 mg on Monday, 2.75 on Thursday and 2.5 all the other days.
Me: no. I take 2.75 on Saturdays, also.
Nurse: what?
Me: I take 3 mg on Monday, 2.75 on Thursday and Saturday and 2.5 the other days.
Nurse: oh. So, how often do you come back for it?
Me: monthly.
Nurse: OK. (she is writing up my paper to take home and she is writing down on the paper my daily doses): OK, so 2.75 on Thursday and Saturday, and 2.5 the rest of the days. And she writes all this down.
Me: Monday needs to say 3 mg, not 2.5.
Nurse: oh. (Looks incredulous at the paper, and then she opens up my electronic chart and confirms it, that yes, Monday is 3mg). So, do you want to make your next appointment now, or not?
Me: yes, please I would like to make my next appointment now.
She pulls up a calendar on the computer – today is the 2nd of August and we have already discussed that I come back monthly, right?!
Nurse: so, we have the 16th.
Me – puzzled, with my phone calendar in my hand: the 16th of August is NOT in a month, and the 16th of September is a Saturday. So, I ask: you have the 16th of what?
Nurse: oh. You said a month, right?!
Me: yes.
Nurse: We have September 2nd. She looks at me for approval.
Me: September 2nd is a Saturday.
Nurse: oh. Would you like to come before the 2nd or after?
Me: after.
Nurse: How about Monday, September 5th?
Me: September 5th is a Tuesday.
Nurse: oh. Yeah, Tuesday.
So we settle for September 5th, a Tuesday, at such and such time. I don't trust it, but we'll go with it for now.
Nurse (last question): would you like me to take a blood pressure for you today, also, ma'am?
Me: (in my head: holy freaking bloody hell NO!!!) no, thank you, I am good.

I sigh and I leave.

And I tell you this with just one purpose in mind: I encourage you to always pay attention and always speak for yourself, when you can! I remember, when I was in the hospital for my heart surgery, my biggest fear was that I would be so out of it that I would not be able to speak for myself. I coached my husband in everything he needed to know about my condition, all the implications any drugs or procedures would have on me, so he can be my spokesperson. Luckily, I was not out of it in the hospital to the point that I could not speak for myself, and for the most part, the hospital care was amazing. There were exceptions and there were mistakes, and I knew my rights and I asked for them to be remedied right away. Don't be afraid. They are supposed to be trained and have the knowledge and they are supposed to have all the answers. But trust me – it is not always the case anymore. More on the contrary.

I am not sure what is wrong with the world today. I see shortcuts in every industry, people trying to do less for more benefits, entitlement, redundancies that hinder more than help, people are hardly every attentive or compassionate anymore. But especially in healthcare, you must advocate for yourself. Speak up. Know your numbers. Know your pills. Walk in there with certainty and an open ear and open eyes, to ensure you look after yourself before you trust your life to their attention.

And if you can afford it (some insurance companies would even cover these), buy your own meters, machines, technology at home, to ensure you have a backup result on top of what they provide. And as often as you can, ask the doctor (instead of the nurse) to take your blood pressure, even if it is just for a second opinion of another pair of ears.

Much health and true care I wish for all of you!

Monday, June 12, 2017

When I Met My Extended FH Family and Learned a Thing or Ten

There are no strangers here; only friends you haven't yet met.” (W.B. Yeats)

I have recently had the rare opportunity and honor to attend the training for FH Advocates organized by the FH Foundation which took place in Arlington, VA. If you're not familiar with this organization by now, you should be. They are doing great things to advocate for, educate and inform patients and medical staff about our condition. They have a terrific website, full of good information. If you or someone you know has been diagnosed with FH or is wondering whether they should be screened for it, and you don't know where to start, start there: thefhfoundation.org.

The training for advocates is just as it sounds: the staff and other resources hand-picked by The Foundation train people to be advocates for this disease. Individuals with FH, their family members or parents or anyone who has worked with people with FH can be an advocate. You learn everything from what this condition is all about, what makes it unique, what makes it like other conditions (here's a hint: nothing!) to what to say to patients, doctors, or the media when you advocate for it. There are two days of intense training followed by an elective day of going to Capitol Hill and speaking with senators and representatives about this condition, why it's important that people are aware of it, and how they could help bring awareness to their constituents.

I know, that sounds like a lot, and trust me, at the end of the three days my brain was absolutely fried. My brain was fried, but my heart was full. I am not sure how the FH Foundation staff has pulled this off, but they seemed to have painstakingly hand-picked the most amazing and nicest people on the planet. In the US, for sure. Never in my life have I met such wonderful folks: friendly, kind, humble, and giving. They shared each and every one of their experiences with FH, their heart stories, their family's stories as if we were olden friends, gathered 'round the ceremonial fire of cleansing, of letting go, and of taking in new life.

I have known that I have FH for 36 years now. Wow, just seeing that written down, it feels like a lifetime – which I am sure it is, for a lot of folks. In my family, everyone jokes about my cholesterol levels, because at 600 mg/dl, they call me a “champion”. My dad's family has it, so to us is just part of who we are (I suspect mom's family does too, but data is fuzzy on that side of the family). I never met anyone else outside my family, barring the folks I occasionally chat with online, that has FH. I have always wondered if other people can relate to my journey – with everything from the many doctor's appointments to being frustrated with the answers we receive, from insurance coverage challenges to what we should be eating every day, from the many a drug cocktails we feed ourselves every day to all the heart complications that ensue after some time.

I have found 30 or so complete strangers that shared the same questions and the same hopes and fears as myself. The most interesting thing to me was that we were all very different, coming from all four corners of the US, from different layers of the social web, of different ages (think 12 to 70 or so), at different stages in our medical journey, but all with a common denominator: we have FH and we're all living with it. For better or worse, through pain and through doubts, through successes and losses, we are here today to tell our story.

I think this, our being alive, is what unites us all into being advocates – because we want people to know, to be aware, and to find a way to manage this disease so that they, too, can continue living. We are all driven by this passion for life, and we want to continue with that, before any “events” get the better of us.

I have learned in my short time with these folks that we are all living proof that we love life, and we want to live it to the fullest. We all want to be here for our future. Whether we have 30 years to live, or 80 years to live, we all want to squeeze every drop of life out of this existence here, and we're ready for it. With needle marks on our arms, and stents in our hearts, we're doing it.

I grew up in a world that always puts the bleak and dark in front of any prospect: “Ah, well, you know, we all owe a death at the end.”, we say back home. They told me I was going to die by 25. But here, in Arlington, we talked about everything you can imagine except about death and about the end. We all want to be here for our kids, for our parents, for our nieces and nephews' graduations and weddings. Our collective spirit was smiling ear to ear the whole weekend.

Don't get me wrong: we are not delusional. We all have very grave stories to tell, but a grave outlook on everything would make this journey that much harder. And we're done with the hard parts. Those are a given. The hope and the lust for life is what we need – and from what I have seen, we all have plenty. It is this drive, and this spirit, this virtual smile on our collective face that should, I hope, drive us, as advocates, to spread the word about this condition.

Archbishop Desmond Tutu said in “The Book of Joy”: “...as we discover more joy, we can face suffering in a way that ennobles rather than embitters. We have hardship without becoming hard. We have heartbreak without being broken.” This is what comes to mind now, as I write this and think about these new wonderful friends I made.

You would think that someone who is taking 10+ drugs a day every day, and a couple of shots a month, someone who visits doctors more than they go out to eat, someone who gets so many stents placed in her heart that she has lost count, someone with quadruple bypass surgeries, replaced aorta, or valve surgeries in her 40's or 50's, someone who is in his early 20's and has been diagnosed with coronary artery disease in their teens, someone who is going in for apheresis twice a month and gets their blood drained three times over in one session is bleak, and cynical, and dark, and has lost hope. But this cannot be further from the truth.

This was the most energizing, the most fun, the lightest, along with the spiritually deepest group of people I have ever met. You can almost taste the maturity and wisdom that only hardships can teach us in the rooms these people filled this weekend. We are all great story tellers, and great listeners. I was grateful to each and every person in the room for the way they shared themselves with everyone. I have known all my life that battling disease leaves you naked and exposed. Raw, against the elements. There is power, strength, and true grit that you must amount when you go through life like this.

Apart from the human factor which was by far my favorite part of the weekend, this weekend has opened up new doors of understanding this condition for me. I thought, after 36 years, and virtually hundreds of doctors, I knew everything. But I have learned some new things, still. I have also realized that I have a long way to go before I truly know everything.

Here are some of the new (to me) learnings from this weekend:

  1. There could be hundreds, maybe more, mutations for FH. Not two FH cases are alike. Depending on what receptor is missing or not working correctly in our bodies, we are all different cases of FH. This also includes members of each family within which the genes were passed.
  2. Because of this, no two therapies are alike. Some of us are on statins, some are on pcsk9 inhibitor drugs, some are on apheresis, because they cannot take any drugs, and some are on a combination of all or some of these and more.
  3. There are two types of diagnoses of FH: the genotype (looks at the mutations in your genes) and the phenotype diagnosis (looks at the levels of cholesterol). For a more in-depth description of what they mean, please refer to this site: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104361/
  4. A level of cholesterol of more than 400 mg/dl (mine is in the upper 500's – low 600's without therapy) could indicate more accurately a Homozygous FH. So, I am now not only more inclined to believe I have the HoFH kind, but also to be more sure that my mother probably has FH as well (her levels have been in the upper 200's and lower 300's all her adult life). Another possibility would be that I have a complex double HeFH mutation.
  5. To know for sure what type of FH you have and what mutation, you must undergo genetic testing. I am looking into that with my cardiologist as my next step.
  6. One in every 250 people has FH – so, it is not as rare as one thought. No one truly knows how rare HoFH is. The overwhelming lack of diagnosis of this condition is largely to be blamed for that.
  7. Speaking of which: 90% of all FH people are undiagnosed, because the disease is easily confused with regular high cholesterol due to an unhealthy lifestyle. If your cholesterol is not lowered by diet and exercise, and you have a family history of high LDL cholesterol or cardiac events at an early age, then you should be screened for FH.
  8. Apheresis is really amazing. I have met this wonderful lady whose LDL cholesterol is 220 mg/dl before apheresis, and this procedure takes it down to 22 mg/dl. Twenty. Two. I was in awe. I am still not running up to sign up for it, though. This is just a personal choice, of course, and I salute and bow to the people who have the gall to do this! It takes guts, folks!
  9. I now know what a “high intensity statin” is, and that there are only two of them: Crestor and Lipitor – which are deemed to reduce LDL cholesterol by up to 50%. All others reduce LDL by less than 50%.
  10. Along with coronary artery disease, aortic valve stenosis is also a complication of FH.

These are just the 10 that just came to mind. But my notebook is full of other goodies which I will share with my cardiologist.

I have also learned that all of us have encountered more than our share of clueless doctors, in want of a better word. We have all felt, at some point or another, like we are educating them on treating us. This was not totally surprising to me, but it does give me additional drive to continue spreading the awareness – not only through this blog, but with every doctor's visit.

I could write a whole book about how amazing this experience was. Not only how information packed, and numbers driven (I am a sucker for statistics) and educational it was, but also how life-affirming and spiritually rich it was. I will be forever grateful to the FH Foundation folks who are tirelessly fighting for us all, but also to all the strangers now become friends who shared themselves with us.

An old Tibetan saying goes like this “Wherever you have friends, that's your country, and wherever you receive love, that's your home.” Thank you all for welcoming me home.


The FH Foundation Advocates and some staff