Until 9 months ago Christian Jacobs never shared his FH story with anyone. Now he has spoken before an audience of almost 200 healthcare professionals inspiring them to diagnose, treat and work on developing new therapies for this life-threatening disease. 

At the age of two, Christian was diagnosed with Homozygous FH (HoFH), a very rare form of FH, impacting roughly one in a million people worldwide. When Christian was diagnosed, his LDL-cholesterol was 957 mg/dL. As a child he was treated with multiple medications, none of which worked very well. At 9, he briefly underwent LDL-apheresis (a dialysis-like procedure, which removes LDL-cholesterol from the bloodstream), but unfortunately his little arms could not handle the needles used in this treatment. For Christian, having FH was a very lonely experience. In middle school he was teased mercilessly because of the large orange cholesterol deposits on his elbows, hands, and legs. No matter what the weather, Christian wore long sleeves and pants.

Everything changed in July of 2011. Christian underwent his yearly physical at the National Institute of Health (NIH) and there he learned that his life-long fear had finally come true. Late in the afternoon of his second day at the NIH, Christian learned that his recent shortness of breath and chest pressure were due to triple vessel heart disease. He was all alone. Although his parents flew to be with him as quickly as possible, Christian spent many hours alone facing this new diagnosis. Suddenly something occurred to him – he decided to stop being a victim and become an advocate for himself and others like him.

His quest began with the internet. Although he didn’t find as much information as he would have liked, he found others with FH. One person in particular was Wenter Blair. Wenter is a warm, dynamic, motherly, take charge kind-of-person, who has never let FH or her own battle with heart disease dampen her zest for life. She introduced Christian to many other people living with FH, she gave him hope, and took him under her wing. Christian’s mother, Amy, says, “Since Wenter came into Christian’s life, he’s a completely different person. In the past Christian was unwilling to share his story; now he’s not only willing, he actively seeks out opportunities to do so.”

Christian finally has a community supporting him and he has hope for the future. “For the first time in my life I am allowing myself to have both short- and long-term goals. My short-term goals are to advocate for better treatments for FH, go on vacation in July and attend college in the fall. My long-term goals are to advocate for a cure for FH, to get married and have a family.”

When asked what advice he would give another young person living with FH, Christian quickly replies, “I would ask them to make sure to take their medications, to understand the purpose for each medication, and above all to have HOPE.”

Watch Christian’s story on our Videos page.