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