Something new everyday

Everyday I learn something new about this disease.  The day we went to Johns Hopkins to meet with her doctor, I learned that the chance of being diagnosed with HoFH is 1 in a million.  I learned there are approximately 400 people living with HoFH in the United States.  I learned that diet and exercise, although important for those diagnosed with HoFH, will have little effect on her overall numbers and do little to improve her prognosis.

About a week or two after she was diagnosed when I went looking for others who were diagnosed with HoFH, I learned there were no Facebook pages or groups specifically for Homozygous Familial Hypercholesterolemia.  There are however, a total of three Facebook pages on the topic of FH, including a discussion group with, as of this posting, 379 members.

Today, I learned that our library has zero books on HoFH and zero books on FH.  Zero. Zip. Nadda.

Really?!

Homozy whaaatttttt?

As promised, here’s a more in-depth overview of what HoFH is…

Familial hypercholesterolemia or FH is what Jason and I have, what Ian has, and what many people in our extended families have:

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. The defect makes the body unable to remove low density lipoprotein (LDL, or “bad”) cholesterol from the blood. This results in high levels of LDL in the blood. High levels of LDL cholesterol make you more likely to have narrowing of the arteries from atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease.

This is describing Homozygous Familial Hypercholesterolemia, or HoFH, which is what  Avery has:

In rare cases, a child may inherit the gene from both parents. When this occurs, the increase in cholesterol levels is much more severe. The risk for heart attacks and heart disease are high even in childhood.

source: http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm

More on HoFH…

There is no cure for homozygous familial hypercholesterolemia, the most severe form of FH. This extremely rare form of the disease occurs in less than one in a million people… Most treating physicians prefer to try oral medications as their first line of defense in cases of homozygous familial hypercholesterolemia. One powerful approach combines high level doses of statins with cholesterol absorption inhibitors. In some cases, this approach is successful, but because the prescription drugs are administered at high dosages, the treatment has to be closely watched by the prescribing doctor. Children with homozygous familial hypercholesterolemia have to monitored even more closely because the high doses can be hard on their systems. 

Some people with homozygous familial hypercholesterolemia aren’t helped by medications. For them, other treatment options are available, although they are more drastic. One option for homozygous familial hypercholesterolemia treatment is apheresis, a treatment which filters cholesterol out of the bloodstream. It’s similar to kidney dialysis and has to be done on a regular basis to be effective. Apheresis is often an out-patient or clinic procedure that takes several hours each time. For those who don’t respond to medications or those who have to have apheresis treatments on a frequent basis, a liver transplant is sometimes recommended by homozygous familial hypercholesterolemia specialists. Finding a donor match is often the greatest hurdle for these patients.

Source: http://thefhfoundation.org/homozygous-familial-hypercholesterolemia/

And we now pause to let that sink it. WOW.

And so it begins

I’m not sure where this is going, so, bear with me.

As I think back on the past two months, it seems like a blurry dream playing out in my mind. Some days I’m pretty good at putting reality out of my mind and pretending it’s only a dream. Some days I remember to be present in every moment, because none of us knows when that moment may be the last.

Other days I’m consumed by worry and sadness. I go through the day in a fog, crying in the bathroom and avoiding eye contact so as to avoid the “How are you’s?” — because, really, how am I? Well, I’ve been better.

Some days I’m just mad. Our life was good, not perfect, but good. Now our life is good, but there will always be worry in our minds. Always.

I guess I should start at the beginning. In November, at the kids normal well-child visits, we requested their cholesterol levels be checked. We’ve done this in the past as hereditary high cholesterol (FH) runs in both of our families. In the past the tests came back normal. This time they came back anything from normal. Ian’s total cholesterol was over 300 and this is a kid who’s diet consists mostly of bread, peanut butter and protein shakes. Avery’s cholesterol was even more alarming. Her total cholesterol was just shy of 800. At age S-I-X. The doctor thought maybe there was an issue with her bloodwork and requested we have it done again as soon as possible. Well, there was an issue alright.

We were referred to Dr. Peter Kwiterovich, a doctor specializing in pediatric lipidology at John’s Hopkins in Baltimore. I was instructed to get an appointment with him as quickly as possible. After many phone calls and a quick google search, I learned Dr. Kwiterovich had passed away several months prior. I was eventually able to track down the Lipid Clinic at the Johns Hopkins Children’s Center and get an appointment with another doctor working within the clinic. In December, we drove to Johns Hopkins and spent the better part of the day meeting with a doctor and nutritionist. It was then we learned that Avery has Homozygous Familial Hypercholesterolemia (HoFH). In short, Jason and I each carry one gene which gives us hereditary high cholesterol. This is called Heterozygous Familial Hypercholesterolemia (FH) . Avery inherited a gene from each of us, thus giving her the much rarer form, Homozygous Familial Hypercholesterolemia (HoFH). More about what these mean in upcoming posts.

Some of you have noticed my unusual behavior the past few weeks or months. You may have noticed puffy eyes, sunglasses on cloudy days, strange posts on my Facebook wall, or seen me sobbing waiting to pick up Owen from preschool. Many of you reading this will be learning this news for the first time. I hope this will help explain.

Thank you for sticking by us as we start a new chapter in our lives.

/michelle

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An article on the late Dr. Kwiterovich:

http://www.hopkinsmedicine.org/news/media/releases/johns_hopkins_pioneer_in_pediatric_lipid_disorders_dies