My name is Christian Jacobs. I am 20 years old and live outside of Columbus Ohio. I come from a large family with four sisters and two brothers. I am currently a sophomore in college studying nursing. When I’m not studying or going to doctor’s appointments you can usually find me close to a computer running my mini eBay business, outside playing tennis, or playing video games with my younger sister.
In 1993, at the age of 2, I was diagnosed with familial hypercholesterolemia (FH.) FH is a common genetic disorder that can lead to premature heart disease. FH can cause unusually high cholesterol levels as early as childhood. It’s more common than many realize and it often goes undiagnosed. People with FH are more likely to have early heart disease caused by high cholesterol that can begin in childhood. FH families can have patterns of heart attacks, heart disease, and high cholesterol in their 20s, 30s, or 40s. FH occurs in about 1 in 500 people. But in FH families, it can occur in 1 in 2 people.
Most people with FH have inherited only one copy of the gene that causes high cholesterol levels. If you have inherited the gene from one parent, you have heterozygous FH. Heterozygous FH occurs in about 1 in 500 people. People who inherit the gene for FH from both parents have homozygous FH, a rare form of the disorder with a much higher rate of early heart disease. Homozygous FH occurs in about 1 in 1 million people. I have homozygous FH.
Growing up was a struggle. Kids in school didn’t understand why I had orange spots all over my body, and they weren’t going to hang around to find out why either. Thus I had very few friends, but the friends I had didn’t care what I looked like. Fast forward a few years and the spots are mostly gone on the outside, but now the damage lies within. Currently I am on six different medications, two are at maximum dosage, and I take 15 pills a day. Nine months ago it was found that I have severe atherosclerosis in three arteries in my heart. At that time I started apheresis and have been on it ever since. It’s hard to imagine that two years ago I was running track, playing soccer, basketball, tennis, and marching band, and now I can’t even walk up a flight of stairs without getting winded. But I don’t let that deter me from all the other things that I am doing. It’s amazing the amount of products that have come to the market for FH in the last few years, with the potential to change my life in profound ways.
The latest guidelines from the National Heart, Lung, and Blood Institute (NHLBI) and the American Academy of Pediatrics (AAP) recommend that if a family has a pattern of early heart attacks or heart disease (before age 55 for men and age 65 for women), children in that family should receive cholesterol screening between the ages of 2 and 8. In addition, the new NHLBI/AAP guidelines recommend that all children be screened for high cholesterol between ages 9 and 11. When news of the recommendations broke people may have felt it was excessive to test children so young, but after reading this, I hope you’ll understand why it is so important.
Awareness of FH is one of the keys in battling the disease. That is why I am happy to partner with Dan and the Genzyme Boston Marathon team to help raise awareness and to raise funds for the National Organization for Rare Disorders, one of the most important rare disease awareness organizations in the world. I plan to be in Boston on Marathon Day, April 16th. It’s a long trip from Ohio, but I’m excited to come out to see Dan cross the finish line. Working together we hope to raise awareness of FH and to work towards a cure.
Christian, What drugs are you on? I too have Fh. I can’t take stains anymore- because after years on them and recently on Crestor, I have neuropathy damage now with burning pain in my hands. How high was your starting cholesterol and how low is it now?
Hi Pam,
I am on a slew of pills. Welchol, niacin, baby aspirin, and Lipitor just to name a few. My begging cholesterol was 957, that was the total. Pat send me an email ctjacobs2010@aol.com we can chat more on there if you would like
Hi christian my name is Georgia and my son Joey who is 13 was told today that he has homozygous. His total cholesterol is 360, LDL-292, HDL-39, TRI-143. I am terrified by what I have been reading on this rare form of this disease. Most of my large Greek family has genetic high cholesterol, so I thought my son would have been FH not the rare one. I’m wondering how the doctor came to this diagnoses. My son was put on a 6 month diet and work out and his numbers did not improve. The cardiologist just walked in the room and says your son has homozygous!!! I was shocked. Any info you have will you please share. Thank you!