At 54 years of age, Kathleen was healthy and physically fit. She knew about her grandfather’s death at the age of 30 to a heart attack. She also knew about her uncle’s premature death from a heart attack at age 32. But she felt far removed from this trend in her family history. Read more about Kathleen’s story here.
Kathleen even remembers her mother taking her to the doctor at age 5 and getting her blood taken. Later, Kathleen discovered that the blood test was done to see if she had familial hypercholesterolemia (FH). FH is a genetic disorder that is caused by a defect on chromosome 19. The defect makes the body unable to remove low-density lipoprotein (LDL) cholesterol from the blood. This results in a high level of LDL in the blood and can lead to heart disease and other issues.
It turns out that, like her mother, Kathleen also has FH. In fact, there is a 50% chance of this genetic disorder being passed down to a carrier’s child. Kathleen knew all of this.
But since she had never had a heart attack or heart issues, she thought she was not at risk of having FH.
Kathleen is one of the fortunate ones.
Although one out of every 250 people in the US have FH, only 10% actually know it and have a diagnosis.
FH can cause an increased risk of heart disease and stroke. Kathleen soon learned all about the dangers of FH one day while going on her daily 4 mile walk with her dog. Suddenly, she began to feel a prickly tingling sensation run up her chest and neck and at her family’s urging, she decided to go to the emergency room.
While in the hospital, one doctor initially wanted to send Kathleen home, seeing that she appeared to be in good health. Fortunately for Kathleen, another doctor noted the history of FH in her family and decided to observe her overnight. At that time, the doctor’s realized that the strange sensations in her chest and neck were actually a mild heart attack! Despite Kathleen’s healthy exterior, she had many severe blockages that eventually led to a quadruple bypass surgery in the following days during her hospital stay.
This experience was very eye opening for Kathleen and she choose to share her story on the FH Foundation website to encourage others to have early and aggressive treatment to live a healthy life with FH.
Kathleen encourages readers with FH (even ones with no current heart disease) to work with their doctors regularly to find treatments that are best for them.
Kathleen admits that while she was on a statin treatment for 15 years prior to her heart attack, it did not keep her levels low enough, which is why she had a heart attack. After her heart attack, Kathleen worked diligently with a new doctor to find a more effective treatment and is now on a LDL Apheresis and taking a PCSK-9 Inhibitor.
Kathleen’s LDL has dropped from 300, while untreated, to 25 and she hopes this treatment change will allow her to life a long life.
During her recovery, Kathleen found the FH Foundation. She considers the FH Foundation to be her “lifeline.” The foundation has a website, Facebook, and a great support group that has allowed her to get the answers and support she seeks to many questions about life after a heart attack.
Kathleen is happy that the FH Foundation is able to advocate for each patient and help them find individualized treatment plans. Most importantly, Kathleen has found a lifesaving and encouraging group of other FH individuals from all over the world that she has connected with.
Kathleen hopes by sharing her story it will raise awareness for underdiagnosed and under treated disorders like FH. She wants to encourage people who have a sense of complacency about their FH diagnosis to take charge and find the best doctors they can to treat their condition.
