6 Tips from an HoFH Grandma
Some people look up to Captain America. Some people idolize Batman. Aletha’s superhero is her 11-year-old- granddaughter, Aubree. “As an adult, I struggle with what that child has to do every two weeks,” Aletha says, “I really doubt I would handle it as well as that little girl does.”
Aubree has homozygous familial hypercholesterolemia (HoFH), the rare and most severe form of familial hypercholesterolemia (FH). Her treatment requires her family to travel 500 miles every two or three weeks for hours of lipoprotein apheresis.
It all started when Aubree was only a few months old. “She had these skin lesions on her Achilles tendon, and as she got bigger, they got bigger. Finally, when she was two and a half years old, my daughter insisted on a referral to a dermatologist.” Her health care provider at the time reluctantly granted her the referral claiming they were sure it was “nothing life-threatening.”
This was a devastating blow to the entire family. Doctors immediately started Aubree on a statin and ezetimibe, but Aubree’s mother, Jade, realized these medications weren’t enough. So, Aletha went to work researching for more solutions. That’s when she found the Family Heart Foundation and learned more about lipoprotein apheresis as an option for Aubree. When Jade brought this option up to Aubree’s pediatrician, they told her no one would begin Aubree on apheresis until she was 10 or 12 years old.
Aletha was heartbroken, because with HoFH, delaying treatment until 10 or 12 could have irreversible consequences for Aubree’s cardiovascular health. The Care Navigator at the Family Heart Foundation connected Aletha to a center that would take her, where the specialist understood the urgency of getting Aubree’s LDL-C down lower as soon as possible.
Jade set to work calling to find an apheresis center that would take her then-five-year-old. The whole family was relieved when Dr. Patrick Moriarty and the team at the University of Kansas Medical Center (KUMC) agreed to see Aubree.
For the next five years, the family would travel 500 miles (each way) from their home in South Dakota, to KUMC every two weeks. That amount of travelling in the car took a huge financial, physical, and emotional toll on the whole family. “They would have to find someone to watch the kids,” explains Aletha, “and during the summer the whole family would have to go.”
A year ago, Aubree was enrolled in the clinical trial for a new drug specifically for HoFH, evinacumab, and it has done wonders for her. Today she’s on several medications, has been able to cut apheresis down to once a month, and her LDL is in the 100s. “It’s still not enough, but when you’re starting out at 900, it’s a miracle,” says Aletha.
It’s been a long journey for Aletha’s family with plenty of bumps and setbacks along the way. But as Family Heart Advocate for Awareness Aletha is dedicated to using her experience to help others facing the same reality she is. Her tips to anyone beginning their HoFH journey are:
1. "Learn as much as you can about medications, trials, anything you can, and the Family Heart Foundation is a great resource for all of that.”
2. “The reality is you’re going to have to be on medicine. No matter how strict your diet is, how thin you are, or how active you are, you’ll need medication, and that’s just the reality of HoFH.”
3. “Don’t dwell on the scary stuff but be prepared for it.”
4. “Find a medical team you can trust.”
5. “Don’t lose hope. There are changes coming on the horizon all the time. The way research and treatments have changed over the last 30 years is nothing short of a miracle.”
6. “HoFH is tough, but we are tougher. We can do this. It’s not an easy road, so enjoy every moment you can.”
"Aletha is a stellar Family Heart Advocate. She not only advocates for her own family, but helps so many others by working with the Family Heart Foundation to raise awareness of FH and HoFH every chance she gets. The whole family has made an important difference in the lives of others living with HoFH."
Cat Davis Ahmed, VP, Family Heart Foundation