Beware of Unknown Tests and Bogus Charges

The “real” story is long and convoluted, as all medical stories are. But I will distill it to a simple recount: they did one test (MRI); they charged me for three.

I have several MRI/ ultrasound/ CT-scan/ doppler appointments a year to check for various things in various areas of my body: I get a heart echocardiogram (or ultrasound) once a year; a carotid ultrasound, a leg doppler and a stress test (sometimes a nuclear stress test) every two years, and now, more recently, an abdominal MRI (sometimes, ultrasound) every year. They are keeping an eye on various areas in my body that show arterial stenosis due to the built-up of plaque.

This new (and soon to be former – see: http://livingwithfh.blogspot.com/2021/04/educating-doctors-visit-to-my-vascular.html) vascular specialist doctor ordered an abdominal MRI with and without contrast. The day of the test, I checked with the technician that was supposed to do my actual test what exactly the test was – like I said this was a convoluted story and there was some iffiness from the doctor’s office about what test was actually ordered from the radiology department, but I knew that the one thing I was there for, the one thing the doctor and I agreed upon to watch, was my abdominal aorta. So, I was expecting an abdominal aorta MRI.

The radiology technician confirmed he was about to do an abdominal MRI with and without contrast. I was good.

And then, the results came a couple of days later in MyChart: the radiology department had apparently done the following tests that same day:

·       CARDIAC MRI HEART MORPHOLOGY AND FUNCTION W/ WO CONTRAST

·       CARDIAC MRA CHEST WITH AND WITHOUT CONTRAST

·       CARDIAC MRI ABDOMEN ANGIOGRAM WITH AND WITHOUT CONTRAST

I opened each of these tests in MyChart to look for the results of each one. They had copied and pasted the exact same results from clearly an abdominal MRI test: there was no mention of the heart, no mention of the chest arteries, no mention of the heart morphology – there were just mentions of the abdominal aorta, the renal aorta, the mesenteric, and iliac aortas. Also, I noticed that one of the tests said “cardiac MRI angiogram” and what I had was not an angiogram … And each of the three tests had identical – letter for letter – results. Obviously, they were not the same test (why the different names?), but they had the same findings. I was just a little bit upset, you can say.

I panicked, because I know that when the doctor says they did a test and it shows up in your MyChart Test Results section, the next place you’ll see them will be in your bill. I have done these tests enough to know they are never lower than a couple of thousands of dollars (usually more) each.

I approached the mix-up with the doctor who ordered the tests, and he insisted that all three of them had been done. I asked him to show me the results of all of them. He could not – he had the same results three times over, as did I, on my end, in MyChart. He insisted that the tests were done (although I told him time and again that I verified with the radiology tech about what test I was receiving and he did not say I was getting three tests), and that the radiology doctor sent the wrong results. The doctor contacted the radiology doctor after I left his office.

I was almost in tears, because by then I had received the bill which showed I owed roughly $12,000 – about $4000 for each of the three tests. I am lucky to have insurance, but I had not met my deductible and even after that, I was still responsible for a chunk of the cost. It also felt unfair that even the insurance should have to pay for tests I did not get nor that were needed at that time.

A couple of hours after I left the doctor’s office the doctor himself called me to apologize: he talked to the radiology doctor and they had made a mistake: they in fact confirmed what I said all along, that they had performed one test and that was the abdominal MRI without the angiogram part of it and that the other two should be taken out of my account.

A couple of days later, the head of the billing department called me with an apology to assure me that I will only be responsible for one test, an abdominal MRI, and that the other two will be taken out of my bill. I told them the bill was already sent to the insurance who paid their share and they assured me they will refund the money to the insurance and that the insurance overpaid (how many times does this happen: hospitals reimbursing insurance companies?!).

In the end, the final bill was for around $4000 for just one of the three tests, but I wonder how many times this slips and people are overcharged for what they did not get done. Especially for chronic patients, like us, who have a number of tests done every year. I know people who are not savvy enough to read their results online and see what they describe; they just trust what the doctor says and move on. They would have received the bill, shaken their heads that the darn medical system is way over-bloated (which still is) and would have paid.

Some lessons this has taught (or reminded) me (of):

• Always pay attention to the tests they recommend and try to understand what they are for and whether they are needed.
• Question multiple tests – are they for the same thing? Can one test cover the scope of all the multiple tests?
• Ask the doctor to explain whether you need an MRI or would an ultrasound (typically cheaper, but not as accurate as an MRI) be good enough? For areas that are larger (think a whole organ versus one small artery), ultrasounds are usually enough.
• Always read your results and try to make sense of them even if it is just to ask your doctor additional questions about your treatment plan.
• Look at your bill twice: does each charge verify and match your real experience. If not, call the doctor’s office first; remember that the insurance only bills for what they receive from the medical institution. Start with the doctors/ clinic/ hospital to understand why they told you one thing and sent the insurance something else.

In short, as always: stay alert and be your own advocate. Always.

Educating Doctors – A Visit to My Vascular “Specialist”

I find that for the most part, doctors are more and more knowledgeable and “educated” about Familial Hypercholesterolemia (FH). They seem to understand how it works, what to prescribe, what tests to perform, why keeping the cholesterol numbers down is important and what to expect the aftermath to be if they can’t keep those numbers low enough.

I am also pleasantly surprised when a doctor understands that age has nothing to do with this disease. I have lots of respect for doctors who understand that in cases of more severe FH (like the homozygous kind) you must be as aggressive as possible with what the medical world has to offer (drug therapy and interventions) as early in the life of the patient as possible to get ahead of the disease and ensure the patient does have a life ahead of them.

I love and have huge respect for doctors who have the courage to act before a so-called symptom kills you. Cardiovascular disease is one of the main complications from FH and with this disease a symptom can often be fatal. I have had the luck to work with doctors who had the courage to act before a symptom was too late for me … I am here today because of such doctors.

But then there is this other crowd of doctors who are not covered in the “for the most part” crowd. Doctors who are so disconnected from the patient in front of them and so stuck in the letter-of-the-book (not sure what else; I want to give them the benefit of the doubt that they have read a book and not just simply call them ignorant) that they got taught in probably an old medical school course book from 1970’s when the research was done all on a 60+ year old male population, or something. Such is my current (till now) vascular specialist.

A while back, my cardiologist decided to refer me to one of his colleagues (who happens to be a former resident of his) that specializes in vascular health to manage my vascular disease, while he can focus on my heart health and my cholesterol management. I didn’t oppose him because I felt like I did need better management of my else-where vascular disease that does not necessarily live in the heart and he already has his hands full with my heart and cholesterol. I have seen this new specialist three times. So far, he is vague at best when speaking about my disease and how he plans to “manage” it.

On my latest appointment last week, we had spent about 45 minutes talking about the various stenoses that I have in the abdominal arteries:

• the main aortic trunk is more than 50% blocked (if I really do the math it is about 75% blocked based on what the normal lumen’s area is considered for me: the narrowest dimension of the aorta measures 0.6 x 0.4 cm when it’s supposed to be 1.2 x 1.2 cm); the transcript of the latest MRA notes “severe atherosclerosis of the abdominal aorta”;
• there is significant stenosis at the origin of the celiac trunk of more than 75%;
• there is mild proximal stenosis in the superior mesenteric of 50%;
• there is mild stenosis at the ostium of the right renal artery (~50%).

The entire time we’re seeing each other, as he also has said in previous appointments, he says “you have lots of disease.” He acknowledges this, which is somewhat reassuring. But then there is the part where I say “what do we about this?” And he comes back with “nothing. We watch it.” He confesses that "they (meaning specialists like him) are not trained to manage stenosis, really, but only aneurysms," and I don't have an aneurysm yet. I am a little taken aback and nervous because it seems to me like waiting for an aneurysm to happen might be too late. I want to be ahead of this. His uncertainty about how to deal with my (what seems to me) advanced stenoses is not very comforting. 

He explains that his biggest worry is not the celiac, mesenteric, or renal arteries, but it is the aorta. I am “happy” to hear this because my heart surgeon who also saw these results agrees that that’s very tight. Now, I had an endarterectomy of my aortic arch when I had my open-heart surgery, and the ascending aorta was so severely diseased that they replaced it with a Bentall graft. Based on my history, I ask him if we don’t need to be more aggressive about addressing at least the aorta if nothing else. He says no, because “there is not as much action through the aorta in your abdomen as it is in your heart”. So, we wait, because the disease in your heart aorta does not compare with the one in the abdominal aorta, so the threshold should not compare either. I am circumspect, but …  

He also offers that even with a bigger blockage he will be reluctant to have me see a vascular surgeon because I am “too young to have this kind of intervention.” He continues that “we really need to wait for more symptoms before we act. If you stop eating because of pain and you lose weight, then we can think about intervention.”

At this point, I sorta lose it. For full disclosure, I do not seek surgeries for the sake of surgeries. But in the past surgeries seemed to be the only option to save my life. And these findings scare me more than another bypass or graft. All I keep thinking about is my surgeon describing the amount of disease in my ascending aorta that he had never seen before. I was 40 when I had my heart surgery.  So, I remind him that age has absolutely nothing to do with the amount of disease in my arteries. I remind him that I have FH. That I have Homozygous FH and for the first half of my life my cholesterol was 600 mg/dl! I also remind him that my cholesterol now, although normal by healthy people’s standards – finally, just in the past few months!) is by far not “normal” for someone with a history of FH, heart attack and cardiovascular disease. So the disease in my arteries will likely continue. I also remind him that I am aging which will make the arteries even more stiff. So, shouldn’t we be a little more mindful about my particular situation and forget about what some book says about when such a surgery would be appropriate?

He back-tracks a little and he nods “yeah, that’s all true, but we also have to consider the risks of surgery. You realize that they would have to sever that aorta and by pass it with another blood vessel?” And I just chuckle: “You obviously don’t remember or don’t understand what I had done to my heart five years ago, if you think this scares me.” I also tell him that I do not want to “wait till I can’t eat anymore and start losing weight”. That seems more than irresponsible to me.

And then we talk about blood pressure. Usually, this is something I manage with my cardiologist and he has been trying to stabilize it for over a year with no success. But after doing some reading on my own and after talking with my surgeon, there are indications that stenosis particularly in the renal arteries can cause hard-to-manage blood pressure. So, I run this by him. He says, and this is an exact quote: “Well, your vascular disease has nothing to do with your blood pressure. You have just a regular, garden-variety blood pressure which is probably OK.”

I am almost speechless, but I find my voice, just barely to ask him to explain this “garden-variety blood pressure” of which I have not heard before. And he says “well, just a blood pressure that normally comes with age. You and I are the same age, so we normally get a bit of an elevated blood pressure as we age. That’s all. Easily managed with drugs.”

I remind him that mine is not easily managed with drugs. I also say, defeated, but wanted to give him one last “education” if I could, if not for me, for those people who will likely and unfortunately come after me: “So, we just got done talking about my history of severe FH, heart disease, massive surgery for 99% blockages in all main branches of the heart, and a trashed aorta; we got done talking about my abdominal stenoses and how my aortic trunk is so tight that, in your words, ‘scares you’, and you don’t think any of these findings have absolutely anything to do with my blood pressure? You think what I have is a ‘garden-variety’ blood pressure?!”

He pauses as he realizes the corner he painted himself into and says: “Well, no. That’s probably true. Those are some good points. All the stenoses probably have something to do with it, yes. But let’s leave it to the cardiologist for now.” Which is all fine and dandy, but ... is he considering these points in outlining his plan or is he not? He seems to me like he is not sure ... 

I was shaking so badly, I didn’t feel like I had the strength to argue anymore. We said our good-byes, I made the next appointment and he agreed to move my “watching tests” to 6 months rather than space them out to a year.

I am reconsidering ever going back, truly. I didn’t feel for one second that he actually saw me. I never felt like he really understood the risk of FH, the status of the vascular disease I have or whether he had a plan for it all. It would feel irresponsible of me to place my life in his hands. So, I probably won’t. Not anymore.

I wrote this blog mostly to share that you will need to be alert to ensure you are indeed getting the best care. I am probably a little bit too far on the end of educating my doctors rather than looking at them as the absolute authority for truth when it comes to this disease, but that is mostly because I have spent my life in this body and I have lived with this disease, I have seen it act in people in my family – most of the time watching doctors shrugging and not knowing where to find the answers. If you have just been diagnosed, you probably don’t have this perspective, so what I can tell you is: stay alert. Read, inform yourself, and yes, educate your doctor if you need to. It’s all part of your care.

I also wrote this blog for those doctors, medical professionals, medical journal writers who have told me in the past that “no, doctors don’t speak like this!” when I would quote doctors with some off-the-cuff statement that would render me more lost than when I first came to their offices. And I am telling you – yes, they do speak like this. To be in front of a clearly demonstrated cardiac and cardiovascular patient and to diagnose them with “garden-variety blood pressure” takes guts. And some doctors obviously go there …

10 Years Ago Today

It’s been 10 years today since I started this blog (http://livingwithfh.blogspot.com/2011/02/welcome.html).  At that time, only few and mostly meager results popped up on google when you searched for “familial hypercholesterolemia”. There was no FH Foundation (https://thefhfoundation.org/), no FH social media groups, and outside my family I didn’t know anyone else that had FH.

I started this blog from a need to find out more, but also to document my journey and share it with others who I knew were out there, for you know you’re never an island. You know, even if you don’t have physical proof, that there have to be others, thousands, maybe millions like you. I was also wondering whether they would be confused if they were lucky enough, like I have been all my life, to find a doctor to diagnose their FH right. Would they be lost and not know where to from there? Would they know what to expect in this journey when it comes to treatments, side effects, tests, and complications? I was going through all of them – all the treatments available - I was finding some, I was rejecting others, I was going through tests several times a year and learning more about what FH does to my body. I wanted a place to document all those and a place that others would find helpful so they won’t feel like looking into a dark hole when they were faced with this diagnosis.

I wanted the blog to be that connection from them to at least one another person like them. Although I had my family, I was missing that connection to others so badly.

I have always said since I started the blog that if even one person reads my blog and finds it interesting for one reason alone, learns one thing they didn’t know, if even one person feels less alone, less lost, and more encouraged that this disease is manageable, that this disease does not have to rule us although it defines us, then my mission with this blog is complete. That’s all I signed up for: one person and one thing.

Over the years, I have exceeded that goal and I am forever grateful to all of you who have constantly reached out, who read this blog, and who have sent your comments to me over time. I always say it here and I pray for it every day that I wish you much health and good luck taking care of you and your families.

A lot has changed in 10 years. Aside from meeting so many others with FH, the FH Foundation was established also in 2011 and they also found my blog and invited me to be an advocate for FH. This was such a blessing as it opened the floodgates to information about current research and increased my own knowledge about FH, as well as, inevitably, increased the knowledge I share with all of you in this blog. But also, the most precious gift to me after connecting with them was to connect with many others like me and learning from their journeys. I am sure this connection would not have happened had it not been for this blog.

A lot has happened in the world of FH as well in the past 10 years. We now have our own ICD 10 codes for FH, and we even have a National FH Day in September. There are charity events (https://livingwithfh.blogspot.com/2017/08/fun-with-purpose.html) focused on creating awareness for FH, and I can tell you – most of my friends and acquaintances now know exactly what I have, what it means, and what it can cause. 10 years ago this was merely a dream.

It’s amazing what this small personal endeavor, a simple blog with the help of technology (a free blog and social media) can do! How many bridges it can build and how many relationships it can forge. How much support and hope.

Thank you to all of you who read here. Thank you to everyone who subscribes on Facebook or through email. I do hope, still, that you continue to find at least one helpful thing from my journey. And thank you for sharing yourselves, as well, through your comments and private messages. I am grateful I ever found you all.  

Days when you realize that dreams do come true are the most special. Today is one of those.

Here’s to the next 10 years!

On the Fifth Anniversary of My Heart Surgery

Hard to believe that five years ago today I was getting a new heart. They call it an open-heart surgery (OHS), but for all intents and purposes, it was really a rebuilding of my heart: a Bentall graft implanted in the place of my aortic valve, root, and ascending aorta; an aortic arch endarterectomy (repair), several endarterectomies of several main arteries in my heart, and four by-passes. My surgery is documented here: https://livingwithfh.blogspot.com/search?q=day+1+to+8 .

Just like every year on this date, I will read the surgery report and just wow myself into stupor. How much can a body take? Hours on the heart-lung machine, circulatory arrest flirting with the limit allowed, heart attack following the surgery, neuropathy for years after that, closed up by-passes years later, pump head that’s lasted now into my fifth year … But also, how brave and certain and a little crazy can heart surgeons be to have the courage and the firm hands to do it all?! The depth of human knowledge and curiosity and bravery to push boundaries never cease to amaze me.

The surgery was still the hardest part of this journey, I won’t lie to you. Just the thought of what the body went through, the risks, the pain, the sheer demolition of every nerve I was ever made of. Everyone told me right after surgery that my body got hit by a semi and I need to take it easy, and that was not a joke. Like I said before; I  felt like my body went to war. And it lost.

But also, the faith, the amazing knowledge of the Utah Valley Regional Cardiac Surgery team were humbling and awe-inspiring, to say the least.

The recovery, little by little, revealed new surprises every year. Every day. I had to learn how to function with neuropathy in my left hand and leg first, as well as how to breathe with neuropathy in my diaphragm, when my lungs were not getting a full load of air. In time, they all cleared up except for my pinkie and ring fingers – they are still full of needles.

I had to learn how to exercise again, a little bit at a time, after two bouts with Cardiac Rehab, a year and a little bit apart. Like a vet that comes injured from war and has to learn how to walk again, one small achievement at a time, I had to learn things and learn my new body. I was amazed how much it felt like I did get a new body, when in fact only the engine was replaced.

I had to learn new ways of monitoring my health, like managing my INR – and how not to freak out every single time the numbers are too high or two low … This, too, this scare and worry (because it’s still here and it’s constant), must be your friend, because it’ll never leave you … You just need to tell it some days: ah, well, we’ll try better tomorrow! Just chill!

Same goes for not freaking out when you accidentally cut off a piece of your cuticle while chopping veggies and then you can’t stop the bleeding. You learn about the amazing power of coagulating bandages that grow a scab for you when your body can’t.

You have to get used to new blood pressures and pulses. New, more difficult ways to get an accurate echo of your heart or even a good cath – because that Bentall graft is in the way. Catheters have a hard time getting through it to look at the really small vessels and it casts a shadow on your valve and heart and they’re never too sure what they see anymore … Much trust.

All such memories now, but also all part of the new me and new normal. You have no choice but embracing the new-ness. It is the new you. It is the better you. I feel different today and in some ways I feel like I exchanged old problems for new ones. But, believe it or not, the new ones seem more manageable than the old ones. My aortic valve is not two thirds shut anymore. My LAD is not 99% occluded anymore. My stamina for lengthy exercise, albeit slow to moderate, is much better.

Some things are different but still there, like the chest pain and the neck pain from the stenoses in my carotids. A lifetime of echos, ultrasounds, and MRIs is still the norm.

Although I took things easily right after surgery, little by little life became more normal: I started travelling, first by car, then by plane. Within a couple of years I found the courage to fly to Europe. I have been there twice since the surgery. I have been on two cruises (before Covid, obviously) and several times to Canada. I also traveled across the country by myself several times for work. It was, again, like learning baby steps. But it is possible. I can tell you I am in touch with every sensation in my body. If something is “off” I feel it right away. This has not stressed me as it’s made me more curious to learn more.

I have also learned so much from other patients. I have made friends during this journey that I would not have made otherwise,  people like me that share freely, honestly, vulnerably their own journeys. Their stories make me so much stronger and make me believe that there is so much strength in us. All I have to do is learn courage from them and find it in me. We all have it. Of that I am sure.

I have also become so much more grateful for every good day. Every day when my tiredness is not too much, I am grateful. I have become more grateful for my family. Every day that my husband does something for me to help me through – I bless him and people like him, those who truly have helped me through this, without whom I would not be here today. Of that I am also sure.

For those out there contemplating whether they should have OHS, I hope you find the strength to do it, and the faith that it can improve your life. I also hope you find the strength in your family and a great team of doctors to walk hand-in-hand with you through this journey. All I know is: you are never alone. You are the main hero of your destiny, of course, but there is a web of little helpers out there that will carry you through. To all of those little elves, starting with my surgeon and ending with my husband, my tireless caregiver – I owe them my life. And I humbly thank them.

Happy journey to all and Happy Heart Month!

On the left: February 11-12, 2016: the day of the surgery, before they wheeled me in; the day after surgery.

On the right: February 11, 2021

Beginning of the Year

Happy New Year, everyone! I think we all put more meaning into this wish this year than any other new year before.

It’s been a while, but not many things have happened.

On the FH front, I am still on the same therapy as I have been since early last year – since the Bempedoic Acid was approved.

Because my joints have been more painful than ever, and because my muscles are tender lately, we (the cardiologist and I) stopped the Bempedoic Acid in the fall (as described here: http://livingwithfh.blogspot.com/2020/10/trying-to-achieve-best-results-with.html) for about a month to see if the pain would stop. It didn’t, really. So, he added it back to my usual cocktail (Lipitor + Zetia + Praluent, at this time). Because we stopped that for a month, the levels for the LDL and Total Cholesterol went up at the last test, as you can see below. Interestingly enough, my HDL is now almost normal, something of a rarity for me – usually that is abnormally low.

Another interesting finding this time is that my Lipotrotein (a) value, which is supposed to be a constant, almost doubled. I will come back with another post about that one.

The cardiologist, along with my PCP, do recommend that I should stop the Lipitor for a month to see if this will stop the joint pain. They are both convinced that it will, at which point I will need to decide whether I want to be on it or not. I would rather not experiment with this, as long as I can take the pain, which for right now, is sufferable. As long as my liver and kidney levels, as well as the levels of CK are normal (and they are, as we continue to monitor them every 3-4 months), I am determined to keep the cholesterol therapy as aggressive as possible to keep my arteries healthy. CK indicates whether there is any muscle damage which would show up in an elevated CK in your blood. So far, this level has been normal for me. So, I am muddling right on through, joint and muscle discomfort or not.

The cardiologist agreed to watch the numbers for these three areas and let me handle the pain. I do not take anything additional for pain. I do find that exercise actually helps with it. It does hurt very much to move, but after a sprint-y lengthy walk or an hour of yoga, when I am at rest, my joints do feel more mobile and less painful. If I go even a day without exercising, my joints are stiff and painful.

I did buy a standing desk for work and I stand as much as possible during meetings, which I have many, sometimes up to 6 a day. This helps as well, as it gives my body more range of motion than when it was just sitting for 8-10 hours every day. I noticed that trying to keep my inflammation down also helps. I do have an mostly plant-based diet which helps keep the inflammation down as well, and to that I have added more avocado, more fiber, and turmeric into my every day meals. This seems to help keep the inflammation down as well. So, here’s hoping …  

On the heart front, I am still fighting with drugs and playing around with them and different strengths to see what the best combination is for keeping my blood pressure down. I am still not at a point where I can say with confidence that we have gotten my blood pressure under control.

The one drug that really helped for me, Amlodipine, causes extreme sensitivity in my gums, as well as makes them bleed. As any heart patient knows, but especially those with a mechanical valve like me, we need the best possible oral hygiene to avoid infections of the heart. So, living with bleeding gums was non-negotiable for me. Losartan is another drug he put me on for blood pressure, but it’s not really working all by itself. So, now he has me on a combination of Losartan and a very small (child) dose of Amlodipine. The gums are fine, the numbers look better but not in the normal range yet. Or at least not on my left arm.

FH throws another kink in the blood pressure values: because of the different levels of stenosis I have in my arteries, my blood pressure in my left arm is much higher than in my right. For an example, see the table below – these are levels in the current month. Apparently, the different numbers on the two arms  is normal for everyone, and the big difference you see between the arms is “normal” for people with atherosclerosis.

Shrugging. Just another measurement that you have to get used to not being “by the book” when cholesterol wreaked havoc in your body, I guess …

I am not really happy with the current drug arrangement for the blood pressure for two reasons: the numbers are still on the high side, the symptoms are still there (chest pressure, calf and neck cramps with exercise) and I would rather not add two (instead of one) medications to my overall cocktail of 12 drugs or so a day (http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html). So far, he wants to continue this regimen for another month (till the end of February, I think) and then we’ll meet to reassess.

I feel like we're always guessing and always trying to figure out what regimen is the best to keep. There is no certainty in anything and I truly try to make the decisions that seem to be the less harmful to me and allow me to have the best quality of life. They might not be the best, but they seem the best from where I am sitting. 

Aside from all these technicalities, and all the side effects and pain I have mentioned above, life is generally good. Outside of the “normal” restrictions we have in place as a family for Covid19, I have no restrictions that prevent me from doing everything I want to do. I work, I walk, I do yoga, I do all my  house chores, we take short weekend road trips and hike, and otherwise, I lead a normal life. Or whatever you call normal for me.

Sure, making sure all the drugs are taken on time, that the Praluent shot is done on schedule, the blood pressure measured every day or so, the INR is measured and reported to the clinic once a week - but these are all part of my routine for life. So, I think more than the bugging joint pain, more than the let-down of the blood pressure being weird or having to take two extra drugs to get the numbers to look a little better, the one thing I feel most of is gratitude. For still being alive and for still being mobile. For everything.

I started out this journey at 8 and they told me I won’t see 25. With a bit of luck and the grace of God, I will be 46 this year. I am so grateful, it renders me speechless.

I sincerely wish everyone much health in the new year. May you know as little loss as possible, if any,  and only peace, health, and love.

The FH Foundation Community Forum

When I started this blog in 2011 (http://livingwithfh.blogspot.com/2011/02/welcome.html), there was little to no information about Familial Hypercholesterolemia online. I knew no other people with FH outside my own family. I had no knowledge about genetic testing for FH and about the two forms of FH (the Heterozygous, more common form, and the Homozygous, less common and more severe form). 

I started this blog out of a need to communicate with others but also from a desire to share my journey with others like me that were perhaps just being diagnosed and did not know what to expect. 

The world has surely changed in the past 9 years! If you follow this blog, you know about my journey, from trying different medications to succeeding and also failing to keep my numbers down, but always going back to the drawing board and always hoping. You also know about the complications brought about by HoFH, about my advanced heart and vascular disease, about my massive open-heart-surgery, ny heart attack, and my recovery. I have gotten lots of feedback from people that this blog helps them through their journeys and gives them a sense of community while assuring them that they are not alone. I am forever grateful for that. 

Besides people like me who share their stories now more and more often, besides the advancements in medicine and the fact that this disease is not as new and uncommon for doctors to spot anymore, there is one other entity in the world of FH that is supporting people like me, and that is The FH Foundation (https://thefhfoundation.org/). Founded in 2013, two years after I reached out a hand towards the world with this blog, it has helped lots of people get diagnosed and shed light into what the possibilities are. They have made available lots of medical resources, untangled the often hopeless mess of health insurance enigmas, and have kept us abreast of the most recent findings and progresses in the world of FH. But more than anything, perhaps, they have created a community where FH individuals don't feel alone anymore and where they can learn from others' experiences and exchange ideas and find support. 

Once a year they organize a Community Forum, usually moderated by a medical professional, where they interview individuals with FH who come from different backgrounds and have different forms of FH. I was lucky enough to be one of these individuals this year and be accompanied by three other amazing panelists who told their families' stories and selflessly shared themselves with the world. These are remarkable stories of people coming from every walk of life, showing the truth about this disease, the struggles, and the triumphs that it brings about every day. 

This one-hour interview is worth watching if you are looking for more first-hand information about what life with FH is really like: https://thefhfoundation.org/fh-community-forum?fbclid=IwAR3YO4Epq-Cs42sALUBf8Ru7wZlB4EiTV9VaZt43oxzWCQmKFRWiMOq53tk 

**There is a registration form, but you can decide whether you allow The Foundation to send you more information or not. 

Much health to everyone! 

“COVID-19: How it worked for us” - a guest blog

 Becky is my team mate. She lives in Utah. She and her daughter and husband were diagnosed with COVID19 around Labor Day (September 7, 2020). This is her story, in her own words, and what she wants the world to know about having had COVID19. 

September 8, 2020: Becky’s announcement in a chat message to our team that her family has been diagnosed with COVID19 (a day after diagnosis)

All three <members of our family> that live here have coronavirus. (My son escaped to college in time.) We're still trying to figure out what exactly that means, like, logistically. But it's a fair bet that I'll be in and out in a pretty random/sporadic schedule. We're okay, mostly. We don't have any health risk factors, and we DO have health insurance,  but this is going to be a weird week for sure.

September 17: Becky’s note to our team after having been sick for 10 days

<rant> I'm pretty frustrated about this. I made good choices, wore my mask every time I left the house, didn't go anywhere I didn't need to go. It didn't matter, because other people didn't wear masks, and then my daughter brought it home. Now I'm sitting here unable to carry things up and down the stairs or EAT CHOCOLATE because somebody else thought it was no big deal. I would be exponentially more pissed if I or anyone I loved would have actually had a bad case. I 100% support a mask mandate and other nanny state behavior and I wish they would shut up and DO it already. I apologize, and I will not interject politics again.</rant>. 

October 8: She sent me this account privately in a Google doc (a month and a day after diagnosis) 

On this day, I had asked her if I might be too paranoid to still obey all the guidelines and restrictions and to still be very guarded and isolated. She said plainly she will send me her full story (below) and then she added: “In short: you are NOT paranoid!”

People are listed in the order that we caught it. Each person’s story is separate, but in real life we all caught it within a few days of each other, so we overlapped a lot.

One of the weirdest things was that we all had completely different sets of symptoms, although we were all definitely sick. The only thing that happened to all of us was losing smell and taste.

Victoria

Age 17, no known risk factors

Main symptoms: Mostly shortness of breath

Tori was the first to get it. We think she got it from school, because when she went back to school after isolation, someone she sits near in one of her classes had only returned from COVID isolation a few days before. Logically, they would have also had it a few days before her. We wondered if she’d caught it from friends, but all the friends she’d been in contact with had to get tested (because they’d been exposed to her). Only one had it, and he had symptoms a few days after her, so we think he caught it from her instead of the other way around. It’s also possible she got it from work (grocery store), but it doesn’t sound like any of her coworkers had it, and there’s no way to know about customers.

The first day (September 4), she had a fever and felt yucky. Her fever was only 100.something, and it never really got any higher than that. She had some pretty bad muscle pain that day too. She called in to work and they told her she had to get tested before she could work again. So I took her down and got her tested. Results back 24 hours later, positive. She only felt rotten for a couple of days, but she was short of breath for like a week. At one point (I want to say day 4?) she wasn’t feeling so bad, but she was getting short of breath. Her oxygen levels were okay (we had a finger tester) but a doctor friend said he’d probably take her in. I took her to the ER because her regular doctor and insta-care didn’t want us to come in and spread germs. The ER x-rayed her for pneumonia (she didn’t have it) and gave her a prescription for an inhaler. She used it every few hours for a couple of days, then less and less and now I think it’s been more than a week. She did lose taste and smell, but seemed to have it mostly back in a couple of weeks. She says it’s hard to know exactly if it’s all back, because she didn’t pay enough attention before she lost it, and it’s hard to compare and judge. She was 90% better in 2 weeks, and I would say is totally better now (October 8).

NOTE: Of the 6 friends that had to be isolated and tested because they’d been exposed to her, only 2 had gone into self-isolation when she told them they’d been exposed. 4 had to be told to isolate by the health department even though they knew they’d been exposed, and 2 were actively mad at Tori for giving their names to the health department because they’d have to miss work and not get money while they were tested. This is probably why, at least in Utah, cases are going up among young people: because at least some of them are idiots.

NOTE: HOORAY FOR HEALTH INSURANCE AT THE ER

Joshua

Age 45, no known risk factors

Main symptoms: Coughing, headaches

Josh caught it a couple of days after Tori. We think he caught it from her. As soon as she was sick we isolated her, brought food to her room, wiped everything down with Lysol, everything, but it was already too late. He had a cough for a couple of days, but it was so smoky here (in Utah) that we’d just assumed that he was coughing from that. Then when Tori tested positive we thought “uh-oh” and he got tested. He was of course positive, although before we heard back about his test the health department called and said they were going to put us down in the computer as positive anyway since we lived with Tori.

The cough was about the same as a cough from a regular cold. It lasted for about a week. Nyquil helped some. The headache was pretty bad and lasted for, I want to say, 5 days (off and on, but mostly on). The health department said to take Tylenol, but you can’t take much of that. Ibuprofen they said might not hurt, but other articles said it might, so we tried to avoid that. We didn’t have any aspirin. The headache was mostly in the forehead, like a really horrible sinus headache, but his nose was clear. Josh was never short of breath.

Josh was tested on September 7, and went backpacking on September 26, so he was feeling completely better by then. He’d been feeling better for a while, but I think if you go hiking in the mountains and overnight backpacking and you’re just fine, you’re pretty much completely healthy.

Becky

Age 45, no known risk factors*

Main symptoms: Muscle pain, fatigue (sleepy), fatigue (weak), shortness of breath, lack of smell

*My family has a history of autoimmune disorders, but I don’t have one that I know of. Also I should probably mention that my cholesterol tends to be a bit high naturally (despite diet and exercise) but not enough for medication (190s).

This one has more details because it’s the one that I saw from the inside, so to speak.

My first symptom was a scratchy throat. I started feeling it on the day Josh was tested, so I went and got tested even though it was just a little scratchy throat. At that point, we thought Tori had it, and Josh maybe had it, and I didn’t have it, so we were all living in separate parts of the house and not interacting at all. The health department said to assume I had it, and that was nice because then at least we could talk to each other and watch movies together and stuff. Then I got a positive test result even though I wasn’t feeling very bad yet. Then I started to feel rotten. 

I did get the same sinus headache, but only for a couple of days. I was a little bit congested, but not very, even though I apparently snored a lot. I had some bathroom trouble one day. But the main symptoms for me were:

Muscle pain. So much pain. More than I’ve ever had without an actual injury. It was mostly concentrated in my hips and legs, but even my teeth hurt. And it lasted for like five days. Tylenol helped some, but again you can’t take it very often. It just made the pain a little less painful for a couple of hours. Tori said she was in a lot of pain too, that first day, and that her friend also commented on how much pain he was in. It surprised me because for how much pain it was, you’d think it would be in the news more.

Fatigue (sleepy): It’s hard to know where the fatigue was coming from because there was a lot going on. I was sick, which makes you tired, but also I wasn’t sleeping well. The pain kept me awake, and also I was extremely stressed out because we all had COVID. That was the first week. The second week I slept like 12 hours a day. The third week I had trouble sleeping again, but I think that was just stress and bad luck. This week my sleep schedule’s out of whack so I don’t know if I’m still having fatigue or not.

Shortness of breath: This one’s weird, because it didn’t show up until I was mostly feeling better. I was sick for two weeks, then improving for one week, and then the shortness of breath kicked in and I’m way worse than I was a couple of weeks ago. I went to the library yesterday and by the time I got back to the car I was breathing like I’d been running. I breathe hard after gathering up laundry. I breathe hard when playing Guitar Hero. It’s ridiculous.

Fatigue (weak): I suspect this is a side effect from the shortness of breath. I was okay right after I started feeling better but now I’m so weak. I can’t get through a grocery trip without crying when I get back to the car. I can’t go for a walk because it’s hard to get back up the hill to home. If I overdo things, it feels like really low blood sugar or something where you can feel your muscles desperately searching for energy and there just isn’t any. It’s super frustrating for a few reasons. It’s frustrating to have to depend on people to do stuff I feel like I should be able to do myself (shopping, chores). It’s frustrating to be stuck at home because it’s so boring here. When video games are too tiring, all that’s left is movies and needlework. I’m running out of movies, and needlework has its own way of driving you slowly crazy. That’s probably not useful info to you but ARRRRGH I’M SO FRUSTRATED.

Losing smell and taste: You can function just fine without smell and taste, but it’s very weird and surprisingly depressing. Whether we want to admit it or not, comfort food cheers people up, and when you’re already stuck at home feeling rotten, losing taste feels like kicking you when you’re down. Also there was this weird not-quite-smell-not-quite-feeling that was there for the first week or so that was weird and unpleasant. And I was like, well, none of us can smell so hopefully we don’t get a gas leak or anything this week! That lasted longer than any other symptom for any of us, and it came back in bits and pieces, so I could smell flowers, but not cooking meat, and cloves smelled weird because I think I was only detecting some of the chemicals or something. Weird and unpleasant.

I don’t know why I’m having trouble so long after the rest of the family is better. Bad luck I suppose. I have a checkup on the 25th (of September) so if it’s still going on then I’ll find out more. 

Michael

Age 19

Michael left for college on August 19, and didn’t ever show symptoms, so that was a huge relief that he just missed it completely.

October 9: Becky’s note to me (a month and 2 days after diagnosis):

Update on coronavirus in case it's useful to know: I did have to go to the insta-care clinic this morning because my breathing took a turn for the worse. They x-rayed me (I'm fine) and gave me an inhaler and also some pretty heavy doses of prednisone (steroid) for the next five days. I do feel a little better this afternoon, so here's hoping it helps. 

October 23: another update from Becky (a month and 2 weeks after diagnosis)

I went into the ER Friday because I was having trouble breathing and my chest hurt. I probably didn’t need to go to the ER, but I was freaking out. They took another x-ray and an EKG and tested me for blood clots (my mom died from blood clots). That was all fine. The doctor told me I have “Reactive Airway Disease” which is apparently what they call asthma when you haven’t been specifically tested for asthma. They put me on some pills (generic Singulair) and some powder that I have to breathe in (Advair) which are both asthma medications. The good news is that they seem to be working! The doctor said that I’d probably be on them for several months.  I still get winded and tired easily, but I don’t have to lie down nearly as much, and when I’m not active I feel totally fine, which is new and exciting for me.

I asked her if she had ever been diagnosed with asthma before or any other lung disease. She answered: No, I don't think so. I can't remember having anything like this before. I get hay fever sometimes, but I don't think that involves your lungs. I do have a cousin with asthma, but no one in my immediate family has it. I'm just glad the doctor figured out what was going on and how to treat it. I'm not thrilled about possibly having asthma, but it's way better than having breathing problems that I don't know what's happening or what to do, if that makes sense.

December 2, 2020: I asked Becky for an update on this day. This is her note ( 5 days shy of 3 months after diagnosis)

Becky’s been wonderful: she is one of the hardest-working people I know. Incredibly smart, too, and even more, incredibly humble. On the virtual calls we have, though, she always looks very tired. So, I checked in with her and asked her today how she feels and whether the doctors have any idea when her life will be back to normal. This was her answer: 

My doctor said 3-6 months. 3 months is next week so I'm pretty sure I'm not going to make that goal.  If I'm not noticeably better in February I'm supposed to go back and she'll start sending me to specialists. It wouldn't do me any good to go to specialists yet because I might still get better by myself. Personally, I don't know if I will. I haven't made any improvement in a while, so right now it's less "rest so I can get better" and more "rest because this is what life is like now." 

Honestly it's kind of rough, emotionally. I am trying very very hard to be patient and optimistic, but some days that's kind of hard to do. I don't mean to complain. I really don't. I know that other people have it much worse. No one I know has died from COVID, and my sister has MS and has been dealing with this sort of thing for years. But I don't love it, and I wish people would understand that this is just not worth the risk. I do have LOTS of support, so that's good. I have no idea how I would cope if I was alone.  

... it's been nearly 3 months, I'm still on Advair and Singulair, and I'm still only able to walk around the block, and not even every day. If I do more than that it's a bad time.  

I thank Becky tremendously for letting me share this with you all and I respect her courage for fighting this, as well as her selflessness for sharing herself so kindly, honestly, and thoughtfully with the world. She is my hero! 

Much health to you, Becky, and thank you, again, for the gift you have given us of your story.