“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:
- 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.
- 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.
- 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/
- 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.
- 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.
- 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.
- 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.
- 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!
- 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%.
- 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
