Avery’s Tribute for Rare Disease Awareness

Over the past several months, Avery worked really hard making this piece to acknowledge, encourage and pay tribute to all individuals with Rare Diseases. She learned a medium of dance she’s never done, or really even seen before as well as many skills that were totally new to her. For the purpose of editing the video together, some of those new skills didn’t end up in the final video. We’re so proud of all the work and heart she put into this piece. A special thank you to Sonja Davis at Urbana Dance Studio and Andrew Mangum of Andrew Mangum Photography as well as the Maryland Theatre.

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.