When the FH Foundation asked me to write Avery’s story for Rare Disease Day, I felt an immense amount of pressure to get it just “right.” It’s such an important story and I know with this fast-paced world, getting people to stop scrolling and read past the title would be difficult. What does HoFH mean to me? Continue reading to see.
Let’s start at the beginning…..
Our 11-year-old daughter, Avery, has a rare disease called homozygous familial hypercholesterolemia, or HoFH for short. That basically means her LDL (or “bad”) cholesterol is really high, and in her case, has already caused plaque build-up and issues with her heart.
What began as many doctor visits and seemingly hundreds of medical tests, hospital visits and consults, transformed into our new norm of weekly lipoprotein apheresis treatments at Alfred I. DuPont Hospital for Children in Wilmington, DE, two-and-a-half hours from our home in Maryland. Apheresis is an hours-long procedure to filter the LDL cholesterol out of Avery’s blood. Needles are inserted into a port-a-cath in Avery’s chest, and her blood is cycled through a special machine to remove the LDL cholesterol, which helps to slow the plaque buildup in her arteries. Even with this weekly treatment, multiple medications, regular visits with pediatric cardiologists, and extensive medical tests, we learned in Fall 2019 that Avery’s condition had worsened, and she would need open-heart surgery as soon as possible.
Holiday joy and planning were suddenly clouded with the fear and apprehension of our 11-year-old daughter’s impending open-heart surgery. We tried to keep holiday festivities as normal as possible, but our usual family celebrations were marked by a numbing fear and disbelief of what was to come.
We left our home in Maryland and Avery’s two brothers in the care of my mom and headed for Boston Children’s Hospital on New Years’ Eve 2019. Our precious girl, who had already endured so much in her young life as a result of her rare disease, would enter into the fight of her life. Avery was about to undergo a 6-hour open heart surgery to repair damage to her aortic valve caused by plaque build-up in her aorta (aortic valve stenosis is common among those with HoFH), as well as other lifesaving repairs to her heart.
On the morning of January 3, 2020, we watched painfully as they took our little girl away to surgery — a pain we never anticipated when we welcomed our perfect little girl into the world with such joy in July 2008. They say God never gives you more than you can handle, but the coming hours and days would surely test that theory. The hours in the waiting area seemed like an eternity but 7-hours later, the cardiothoracic surgeon came to tell us the surgery was successful and Avery was headed to the CICU. Although we were still in the post-surgery critical period and Avery was intubated and unconscious, her dad and I were hopeful we had turned a corner. Around 1:00 a.m. the doctors and nurses proceeded to wake Avery in order to extubate her. By the next morning she was able to get up and take a few steps to sit in the chair. Although she was in pain and extremely nauseous, we thought the worst was behind us. Hopefulness quickly turned to havoc and fear though. Despite strong pain medications, Avery was in severe pain, and there appeared to be no relief. We stood by helplessly as there was nothing we could do to comfort her.
After what seemed an eternity of consults with her medical team, they advised that her stats had started to drop and they were seeing issues on her bloodwork, EKGs and ECHOs. They needed to perform a cardiac catheterization to try to determine the source of her pain and outlined the risks of disturbing the surgical site. Again, we waited, our daughter’s life in the hands of the medical team. After what seemed an endless wait, we were advised there was a problem with Avery’s right coronary artery which required emergency open-heart surgery to correct the problem. While Avery remained in the cardio catheterization lab, the surgical team was called in from their homes to perform emergency surgery — her second open heart surgery in 24-hours. Avery came through the second surgery well, but spent the next several days in the CICU sedated and intubated. As if this was not enough stress, we also learned that our 11-year-old Avery had suffered a heart attack.
After 23 days in Boston and 12 days in the CICU, we finally returned home with Avery on January 22, 2020. I have to be honest, there were times we feared this day would never come. Our lives will never be the same. Thankfully, Avery grows stronger every day, and yet we know that our fight is not over. And so, our journey continues.
Just five years earlier, we knew nothing of rare diseases. We’d never heard about the zebra and its connection to rare disease. We are still surprised to learn how many physicians and other medical professionals have never heard of familial hypercholesterolemia (FH), the more common form (but still serious) of Avery’s illness, much less the rare disease, HoFH. Thankfully, through organizations like the FH Foundation and extensive hours of personal research and networking, we have been fortunate to partner with world-renowned pediatric cardiologists and medical facilities such as Alfred I. DuPont Hospital for Children (Wilmington, DE), Boston Children’s Hospital, and Children’s Hospital of Philadelphia (CHOP), who have treated Avery for her HoFH and genetic heart defects and given us hope for the future.
What does HoFH mean to me? It means many different things. It means courage -- which I see in my daughter every day as she goes through this battle. It means frustration that my daughter -- and all my children -- have been put into this situation. It means love for the encouragement and support that we received from family and friends. And it means hope that my daughter will live a long and happy life.
We continue to pray for strength for the journey. Some days we are strong and fearless warriors. Other days, we lean on prayers, support and love of family, friends, and yes, even complete strangers who have joined us on this journey. Dr. Theodore Woodward told medical students: “When you hear hoofbeats, think horses, not zebras” -- encouraging them to look for the common when diagnosing patients. There is another quote that resonates with me and my family. It encourages medical professionals to go past the horses, and even beyond the zebra. “There’s no end to the things you might know depending how far beyond the zebra you go.” And we are forever grateful to Dr. Seuss for these words of wisdom because our precious Avery is perfectly imperfect, and we continue to walk through Avery’s Fight with hope and anticipation for the future.