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



Saturday, June 10, 2017

Carotid Stenosis Improvement. Say What?!

To see the history of my carotid stenosis, all you will have to do is click the “carotid stenosis” label to the right of this blog. That should pull up all my previous posts on what the findings were in my many carotid ultrasounds, over the years. You will notice that since 2011, when I started documenting this, they have been worse every year. I believe I started with a 40-60% stenosis, which moved to 60-70% after a couple of years, and all the way close to a 90% blockage last year, before my heart surgery.

This week, I had my annual carotid ultrasound and vascular surgeon appointment, and for the first time ever, there is no progress in my stenosis. The narrowings are at the same percentage as last year, according to the PA. The vascular surgeon agrees, and even said “I will call them the same, because I am too nervous to really say they are a little better.” What?! “Better”?! They did not even bring up the one spot that had a 90% blockage last year. After 40+ years of clogging up my arteries and living with high cholesterol that has not been anywhere near normal limits, is there such a thing as an improvement or even a lack of change in my narrowings?! I am still in shock, and unsure whether to be thrilled about it or ask “what's next?!”

The only thing that is different this year is the fact that I have been taking a pcsk9 inhibitor drug (mine is 150 mg of Praluent every 2 weeks. I am not endorsing it, it is just what was prescribed to me). Drugs in this class promise to do wonders not only in our cholesterol levels, but also in reversing atherosclerosis. So, I guess the conclusion is: they are working.

I was told that the earliest you can see a change or reversal in the deposits on your arteries is after about 70 weeks since starting the pcsk9i drugs. I have about 61 weeks of Praluent behind me, and the verdict is that there has not been more damage added to my carotid arteries during this time. I will take that as a cautious win, of course, but I am still in shock.

Of course, I am still wondering what else (bad) is this drug doing to me besides improving my cardiovascular life, but I cannot dwell in fear of that. I am making the best decision with the information I have now, and will hope for the best.

There is still the risk of the carotid plaque having hardened the carotid wall, and continuing to do so, but at this time they said the blood velocity is good, so they are not suggesting surgery or repairs. Unless I develop an aneurysm, there is no surgery to be done, and because the narrowings are around 65%, they suggest no stents to be placed, either.

For now, I am just trying to let this bit of news sink in, because I am not used to ever getting good news about FH.

I hope everyone is healthy and having a good beginning of summer.


Thursday, May 18, 2017

Cholesterol and Heart Health Update

My cardiologist is a funny dude. He keeps telling himself that I only need to see him every 6 months now, and then he can't make himself do it: he rescheduled me for 4 months again. I guess some of my symptoms and the recent test results made him nervous?! But let's not get ahead of myself.

This past week, I went in to see him after 6 months (since last November), which was the longest hiatus between two visits since my surgery. For the next appointment, he wants to see me in 4 months.

We looked over the new cholesterol numbers which are overall good, as shown below. 
 

You will notice that a couple of things are still off, though:
  • the LDL (“bad” cholesterol) is a little high
  • the HDL (“good” cholesterol) is too low
  • as a result of the latter one, the cholesterol/ HDL ratio is still high
He is not thrilled with these numbers, although I am over the moon with them. If you don't remember, my LDL used to hang out in the 400's for years. To see the total cholesterol at NORMAL values is something I have not hoped to see in my life. But here it is.

If you want to see what drug and exercise regimen I currently am on, please visit this page: http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html

He talked to me about this new drug (also an injection, like Praluent) which is now in clinical research. It has not been approved yet, but he wants me to do the trial, to get that little bit of LDL down and that HDL up. I told him I would like to read about this new drug, but I made no commitments so far.

We also talked about my heart health. My blood pressure is still on its own internal roller-coaster. It can be as high as 150 over 50 one day, and as low as 110 over 35, another. Either way, the gap between the two numbers is what worries me. And the cardiologist. He still thinks that I have aortic insufficiency which is what he believes causes the weird blood pressure. This could also be worsened by the new aortic valve which is still a bit leaking ('mildly').

I have a couple of new symptoms, too.

I feel what I call a “claw” in my chest, over my heart almost daily. I think it might be in the chest wall, but I cannot be sure 100%. It feels like a sharp claw that just grabs hold of my chest. No idea where it's coming from. It does not feel anything like my angina which I had often right before the surgery. This is very different.

I still wonder if over a year from surgery now, my nerves are just now coming back into my chest wall, and I can feel more what went on in there. It just feels weird. The doctor did not seem concerned about this symptom and he said he could say positively that it is not heart related. He said it could be surgery related, but not heart related.

Another newer symptom is that my feet and legs seem to swell quite badly some days, especially in the evenings. I had swelling before, but it was very rare. Now it seems to be a pretty regular event. The swelling is painful, and I cannot quite pinpoint what causes it. He did a blood test for this, which is supposed to see if your heart is under stress, or to indicate whether you are in heart failure. The test is called a BNP (http://www.webmd.com/heart-disease/brain-natriuretic-peptide-bnp-test#1).
The normal levels for the BNP are between 50 and 100. Mine came back as 285. Always the overachiever, of course.

I am really worried about this, because coupled with the weird blood pressure and the fact that I tire easily when I exercise even a little bit, I am wondering if my heart is working right.

He did not seem to worry about this number, either. He said the value of 285 is “in no man's land”, and if the number would have been higher than 400, then, he would have known for sure that the heart is under severe stress. This number just shows, to him, that I have either aortic insufficiency, which he already suspected, or that my heart is still under the stress from the surgery last year. Either way, this is not why my feet swell up and this is not high enough to indicate heart failure.

I am trying to learn more about this test just because it puzzles me that it's so (seemingly, to me), high. If they give you a range, it must mean something, right?!

I have read that severe infections can also elevate the BNP, and I am currently trying to heal a stubborn UTI which seems to resist antibiotics, so I wonder if this threw off the number some, too. I have no baseline for this number, so I am not sure what it was before my surgery, or right after it. He said he will repeat this test in four months, when he sees me next.

Till then, continue with life as usual, I guess.



Tuesday, April 18, 2017

A Helpful Health Insurance?! Alas, There Is Such a Thing Indeed!

Why the insurance company finally approved my Praluent prescription and who is paying for it

I feel like I should have written these entries as part of a series: I should have named them all the same thing and then given them an episode number. But I didn't. Who knew it was going to become such a saga?!

If you are just now finding out about my struggles to stay on Praluent, due to my insurance denying my refill last year, then you must read the previous entries. They are, in order:

I suggest that you would read them in successive order, just to understand the whole story, as it progresses. First, I was denied when I needed to refill my prescription (please keep in mind the word “refill”: I had been approved by my insurance to take Praluent; but when the authorization needed to be renewed, after 6 months, I was denied); then, my nurse appealed the decision, to no avail – I got denied again; and lastly, I appealed their decision one last time and they eventually approved the refill, 6 weeks from my original request for a refill. All the details of what happened are in those three entries. If you are riding this roller coaster, as well, please read them and maybe some things will be helpful for you. But also, read on …

Just to be clear: patients of FH for whom statin therapy is not enough, or Homozygous FH patients, or FH patients who are allergic to statins depend on drugs like Repatha or Praluent (PCSK9 inhibitor drugs) to keep their cholesterol levels low. To some of us, this can be the difference between having a heart attack and avoiding one. So, if these drugs work for you, you want your insurance to keep them on their formulary and you want them to keep giving them to you. They are insanely expensive, so the insurance's help with paying for these drugs is paramount to being able to continue the therapy.

After my insurance approved my refill, I thought that was the end of my interaction with the insurance company and with the Specialty Pharmacy which is the entity that actually manages the filling of the prescription. But I was wrong.

As I mentioned before, the FH Foundation (https://thefhfoundation.org/) has reached out to me and wanted to investigate further into what happened with this refill. They work with various insurance companies to smooth out the process for patients that need these drugs

I can tell you I was not alone: several people that read the FH Facebook post mentioned that they had the same experience as mine, where they get approved the first time, and then the refills are problematic. My own cardiologist said that about 80% of his patients get denied for a refill and he cannot figure out why.

Well, after talking with the FH Foundation folks, they put me in touch with a person from my own health insurance who was investigating how they can improve this process for us, FH patients. He emailed me, and asked me a few basic questions about my account (name, date of birth, etc) and then he dug up my file and my history of requesting a refill. After several weeks of digging, he and a manager from the Specialty Pharmacy (you are always dealing with the reps from the Specialty Pharmacy when you fill this prescription) had a conference call with me to talk about what happened.

I went over the story, but it was fast apparent to me that they knew what the story was: I called in for a refill, was told that one would not be allowed without a pre-authorization; my nurse was required to fill out a form to require pre-authorization, and that was denied. Twice. Then, I filed one last appeal, and the insurance magically pre-authorized me for my refill.

To my surprise, the insurance company person as well as the pharmacy manager admitted that what happened was a series of mistakes on their end. The whole time I was calling and placing the order for a refill, they were treating me as a new case, not as a pre-approved case who just wanted a refill. When they did that, they also faxed the wrong form to my nurse: they faxed a form where they ask for all complete records that prove that I have FH. My nurse was half-completing that information, because she was assuming (like me, too), that she had already filled all that information out the first time she asked for the first approval and that the insurance company already has the information they need. But they needed that whole information thoroughly completed again, because in their mind, I was a new patient. This was a mistake made by the people working with my doctor to file the request for the pre-authorization.

According to both the insurance company and my Specialty Pharmacy, when you file for a refill, they require one form with just two questions on it: what was the LDL before therapy and what is the LDL now?! If they see that it dropped (and in my case, significantly), then they approve the refill, because they think the drug must be working. If not, they won't approve it. They don't need any of the previous information, about your family history, or your own history of CVD, or your previous and current medication, etc. They just need the doctor's office to tell them those 2 LDL levels and based on the trend of the numbers, they stop your therapy or continue it.

The people I spoke with apologized profusely and thanked me for being willing to help them “discover gaps in their process and training” so that they can fix this and so that no other patient should encounter this problem again. They also told me, quite surprisingly, again, that their full intent is to keep people like me on therapy, and not make them stop or skip the therapy. If you think about it, as expensive as these drugs are, they are still cheaper than paying for a heart attack or a stroke. So, it is in their interest, too, to keep us on the drugs.

I asked them what made them approve my last appeal and what made them investigate this case in particular. They said the appeal was approved because with the papers that I sent and the clear letter explaining my plea, they could tell right away that the Specialty Pharmacy reps were not listening to me. I asked if my doctor intervened more, and they said: “No. The only thing that approved your pre-authorization was your paperwork, that you submitted with your appeal.” In that, I added tons of documentation to prove my condition, medical history, my history with them, and I clearly stated that this was for a refill and not for a first time approval. When the appeal department got that, they approved it right away. You can read in this blog entry (http://livingwithfh.blogspot.com/2017/02/refill-for-praluent-approved.html) what all the papers were that I sent in with the appeal.

This conference call was the first time in my life, possibly, when I was not frustrated and exasperated, after talking with an insurance company. I was really grateful that they took the time to investigate and they discovered the mistakes in the process, and owned up to them. Hopefully, lots of people like me will have better experiences in the future.

My next pre-authorization is required again in August (after 6 more months since last time), but after that, it will only be required once a year, instead of every 6 months. I will definitely report back with how that next step will go. So far, all the monthly refills have come in pretty painlessly.

Another thing that I found was that the Praluent manufacturer is actually paying my copay, as I have yet not gotten a bill for this year's refills. They explained that sometimes, before they bill me, they look to see if the manufacturer offers a copay card. If they do, they apply it to my balance, and it just so happens that what they offer covers my balance. The manufacturer has never reached out to me, nor has it sent me any notification that they would be doing this. This has been completely behind the scenes, between the manufacturer and the health insurance. They mentioned that my insurance does not accept a copay card from all manufacturers, but they do from the maker of Praluent, as this is a preferred drug for my health insurance.

They also told me that when there is no copay card, and they must cover a significantly expensive drug like Praluent they go next to various foundations. Some foundations might cover the copay partially or fully, after a screening process. This was not my case, because the manufacturer's copay card was accepted. 

Both the insurance liaison as well as the pharmacy manager shared their contact information with me, so that I can contact them directly should this happen again. As I mentioned before: this has been an out of the ordinary experience with a health insurance company. So far, I have been pleasantly surprised by this follow-through and attention to details. Let's hope this holds and not just for me, but for everyone else struggling to get through to these institutions.

Please comment if you want additional information on what I have submitted, or if you have more questions about my interaction with the insurance company, the FH Foundation, or anything else. I'd be happy to help.

Easy journeys to all of you, and to all: much health!