This blog was written by Mackenzie Ames for Family Heart Foundation, whose mission is to save generations of families from heart disease through timely identification and improved care of familial hypercholesterolemia (FH) and elevated lipoprotein(a). This is Jessica’s story.
“For seven years I thought I had a perfectly healthy child.”
When Jessica’s father died of a heart attack at the young age of 54, she didn’t know the reason could be genetic. “He was a stubborn man who never went to the doctor,” explains Jessica. But when the doctors told her that her total cholesterol was around 350, she traced it back to him. “But my doctor didn’t tell me I needed medicine or anything,” she explains, “and I wanted to have more children, so I went untreated.”
“It would clear up on its own – it was nothing to worry about.”
When Jessica’s daughter was around six years old, she began to notice little yellow bumps on her knees. “She had them for almost two years,” says Jessica, “Her pediatrician said it was molluscum and it would clear up on its own – it was nothing to worry about.” When it didn’t, Jessica took her daughter to a dermatologist for more answers.
“Kids at school were asking what was on her knees,” explains Jessica, “She hated them.” The dermatologist gave her daughter two treatments for molluscum, but they weren’t going away. That’s when the physician assistant at the dermatologist’s office suggested a biopsy to better understand what the bumps were.
“He’d had children in his practice with high cholesterol, but never that high.”
When the results came back, the office called Jessica and asked if high cholesterol runs in the family. When Jessica said yes, the dermatologist suggested her eight-year-old daughter have alipid panel done. The bumps on her knees were xanthomas – cholesterol deposits in the skin. When the results of the lipid panel came back, Jessica knew it wasn’t great news because the pediatrician called on his day off. Her little girl’s cholesterol was in the 800s. “He said he’d had children in his practice with high cholesterol, but never that high. This was when Jessica’s daughter was diagnosed with homozygous familial hypercholesterolemia (HoFH).
“Who would think bumps on the knees would lead to this?”
With this knowledge in mind, Jessica started researching. “I started Googling and freaking out,” explains Jessica, “and my friend suggested I get on Facebook to find other moms who might have more information.” That’s how she came across Family Heart Foundation. She made a post on the foundation’s Facebook page and a member of the Family Heart team reached out. “The day she called me,” says Jessica, “I was in my bedroom bawling my eyes out because I went for seven years thinking I had a perfectly healthy child. Who would think bumps on the knees would lead to this?”
“It’s good because we’re ahead of it.”
Despite her anxieties, Jessica was proactive with her daughter. “She’s had all the tests, the echocardiogram, and a CAT scan to check her arteries and everything is good.” There was no sign of early heart disease. “It’s good because we’re ahead of it.”
Her daughter is on a treatment plan that includes statin and ezetimibe. She will be nine years old this year and is eagerly awaiting her tenth birthday when she’ll be eligible to start a PCSK9 inhibitor. “At first I was just so afraid of the unknown,” explains Jessica, “and I feel so much better now having answers, having a plan, and knowing things are working.”
Family Heart Foundation envisions a world where everyone knows about FH and Lp(a), including their personal genetic risk.
Right now, all over the world, 1 in 250 adults and children have familial hypercholesterolemia (FH) and 1 in 5 have elevated Lipoprotein(a), also known as Lp(a). Those who are diagnosed with either FH or high Lp(a) need help and hope, but far too many have no idea of these genetic risks.
Both FH and elevated Lp(a) are hereditary conditions that increase someone’s risk for heart attacks and stroke by 5-20 times. Without detection, most have no idea that bad cholesterol could cause a deadly heart attack or stroke is silently building inside them. If your family has a history of early heart disease or want to know more, find a specialist near you and connect with others through one of the Family Heart Foundation’s Support Groups.
Jessica F. is a Family Heart Foundation Advocate for Awareness. If you’re interested in joining the Family Heart Foundation as an Advocate click here to learn more.