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Born May 2001 | Worcester Park, UK

Living with HoFH

“If the diagnosis wasn't there she wouldn't be here now. She would've been one of these teenagers who is found after she dropped dead and only postmortem finds out why.” -Ian


Charlie is a teenager living with HoFH in a suburb of London. At the age of 13 she underwent open-heart surgery to clear a major blockage in her aorta—a result of her HoFH. She was diagnosed at three years old when she exhibited xanthomas (orange spots on skin) as well as unfathomably-high LDL readings on blood tests. It was already known that her father, Ian, had a form of FH, but it turns out her mother, Sara, had the genes as well, meaning Charlie’s condition was more severe. She has been taking statins since she was young, and post-surgery started regular LDL-apheresis. Her intimate understanding of her condition and her experiences as a young patient have inspired her to explore the realms of science, therapy, and patient advocacy.


The nurse in the operating room wanted Charlie to see the doll to get an idea of what things would be like when she woke up from surgery. She waited patiently until he brought out the tiny manikin.
“This tube will administer your oxygen,” he explained. “And this line will deliver your morphine.” He pointed to a tube going into the doll’s neck. “And these larger tubes will be cleaning out excess fluid in your chest.”
The doll was not helping Charlie with her anxiety. It looked tortured, and shared no resemblance to her. Still, she understood the nurse’s good intentions. The doll was an educational tool, but Charlie was starting to feel queasy with the visceral display. To quell the stress rising in her sternum, she looked away and tried to think about her upcoming weekend plans with friends. They were throwing a party the day before her surgery. Charlie focused on feelings of gratitude for her new friends, who she was still getting to know since transferring to a new school a few months ago. It would be a whole month before she would recover and could return to class with them. She told the nurse she had seen enough of the doll. It had already been a long day.
Few 13-year-olds were having open-heart surgery. At least, Charlie didn’t know any. She talked about it sometimes casually with friends, which resulted in wide, disbelieving eyes and stunned facial expressions. You mean, they’re cutting you open? That’s so scary. It was not a subject that was easy to broach with her peers. They were mostly concerned with new music, makeup, and jewelry.

Charlie had been interacting with physicians on a regular basis long before she had any semblance of a social life. She had vague memories of being not much older than a toddler and going with her parents into London to see doctors. She continued this throughout her early years, sometimes every three months, sometimes every six. Her family always tried to make it fun, like a trip. They would see the sights of downtown London and eat delicious food. She would dress up and her younger brother, Tom would often come too, getting an impromptu day off from school. Tom was lucky.


Charlie had been interacting with physicians on a regular basis long before she had any semblance of a social life. She had vague memories of being not much older than a toddler and going with her parents into London to see doctors. She continued this throughout her early years, sometimes every three months, sometimes every six. Her family always tried to make it fun, like a trip. They would see the sights of downtown London and eat delicious food. She would dress up and her younger brother, Tom would often come too, getting an impromptu day off from school. Tom was lucky.

Now the importance of all these appointments was coming into focus. It started at three years old, when her parents brought Charlie to a dermatologist to inspect some orange spots that had appeared on her wrist and ankle. Not knowing what the blemishes could be, the dermatologist ordered blood tests. The results showed an astoundingly high level of cholesterol in her bloodstream, and further testing led to a diagnosis of Homozygous Familial Hypercholesterolemia (HoFH). It was already known that Ian, her father, had a form of hypercholesterolemia, but it turns out Sarah, her mother, did as well, meaning Charlie had gotten a double-dose of the genes, adding exceptional risk of cardiac complications in her life. While Charlie got both her parents’ autosomal dominant genes, Tom got none.

For years, Charlie’s cholesterol was under control. She started taking a statin to keep her levels down and was able to eat a fairly normal diet, while limiting caloric foods like meat and cheese. Ian and Sarah always made sure she was not viewed as “different,” or “affected,” and showed her—from her earliest years—how to take her medication so that she would stay healthy. As Charlie grew, her cholesterol levels started rising. There were many factors. Charlie was maturing, making more of her own choices, especially regarding food. She would sometimes order panini at the food court, ignoring the amount of cheese each sandwich contained.


Several months ago, Ian and Sarah received a letter in the mail. It was from the hospital, requesting that they schedule Charlie for open-heart surgery. There had been no other forewarning. Stunned, they decided to educate themselves before relaying the information to Charlie. They knew she would be starting at a new, more rigorous school, and wanted her to settle in there before breaking the news. They visited specialists in London for clarification. An MRI revealed a 30% blockage in her aorta, which they learned was built “narrow,” increasing the risk of future arterial blockage. Charlie remembers sitting down at the dinner table one night—she had just finished her midterm exams—when it was laid out for her: next spring she would undergo surgery.


Before she could open her eyes, Charlie heard the low hum and periodic beeping of machines. Every now and then, a thin shade of light would make its way to her iris. Her eyelids were heavy, but her mind had clicked on, and it was not ready to turn off. The enchanted loom in her head was moving again, the shuttles making their way from one end to the other to weave the complex fabric that was her conscious brain. Synapses fired as Charlie returned to the sensory world.
Slowly the memories of how she got into the bed resurfaced, like fossils dug from bedrock. The surgery was over. Her body felt awful. Sunlight streamed in through the windows next to the hospital monitor. Charlie could barely tilt her head, but her instinct to locate herself in the greater world was strong. She lifted her chin slightly and caught a glimpse of a myriad of plastic connecting tubes running in an out of her body. The doll, she thought, conjuring an image she wanted to forget, but couldn’t. Charlie tried to refocus on something pleasant. Her eyes found the window and then the sky.

The clouds were a peaceful sign of normalcy. England was renowned for its cloud cover, blanketing the island for most of the year. But there was something else up there. Charlie focused her eyes on a strange brown object floating among the clouds. Her mind struggled to comprehend what she was seeing. It was... a dumpster? The aerial apparition slowly twirled as it sank below the window-line. It must be the painkillers, she thought, but again another strange image appeared. It was a bed and, just like the dumpster, it weightlessly traversed through the clouds. What was going on out there?

Her family entered the room, and her thoughts quickly changed from surreal strangeness to familiar warmth. They embraced her against the backdrop of heart-shaped balloons and the white, sterile walls of the hospital. A nurse was making notes and looking over a stack of machines nearby. Her parents explained what was happening.
“You’ve been transferred out of the Intensive Care,” said Ian. “Hopefully in the next few days we’ll be getting you out of here. We’ll be going home soon.”
Home. The word hung in the air, as unreal as the flying bed and dumpster—but she desired nothing more than to be there, among her things, able to rest and read her books. A smile crept onto her face.

“I’m really out of it,” said Charlie. “Like I’m hallucinating or something,” she continued. “I looked out the window a minute ago and, well, there was a bed and it was flying.”
Sarah looked toward the same window, but didn’t appear the least bit perplexed. She broke into a grin. “You weren’t imagining anything,” she said. “There’s a new building going up next-door. They have a construction crane lifting all sorts of wild stuff.”

Being airborne suits Charlie well. She grasps a hold of the rock wall and lifts herself around a vertical ledge, pulling herself above the heads of onlookers. Her foot swings around the other edge of the corner putting her body perpendicular to the ground. Once upside down, she clings to the wall with all her strength. She breathes heavily, and looks up at the next series of chalky holds. Charlie’s mind stays focused on the task at hand, relinquishing the stresses of school life: the long hours of homework, the sheer number of textbook pages she must read, the discomfort of sitting still. All she thinks about now is her balance and her strength in the battle against gravity. She can barely see the next hold as her arm stretches forward, fingers grappling toward the unknown.    

Against the backdrop of artificial rock, Charlie’s arm muscles bulge as she pulls herself over arduously to the next hold. This is where one might notice the only visible manifestation of her HoFH. Perched on her flexed bicep is her fistula, which was surgically formed. She looks down at the rotund mass of blood and tissue, thumping along to her elevated heartbeat. Some people find the fistula grotesque, or at least, unnerving, but Charlie has grown to like it. Plus, it makes her treatments much easier.
Since her heart surgery three years ago, she has started a new treatment to augment the anti-cholesterol effects of the statin. Lipoprotein apheresis is a process where LDLs are cleansed from the bloodstream, dramatically lowering bad cholesterol levels. Once the blood is “cleansed,” the cholesterol starts to build up, signaling the inevitable repetition of the procedure. This means missing a day of school every two weeks, something less exciting to her now than it once was. It also limits prospects for her going to university too far from an apheresis center. However, the process has helped Charlie remain healthy, avoiding more surgeries.
Despite these frustrations, HoFH has unearthed new interests for Charlie. Biology and chemistry are now imbued with a sense of fascination, as is physiotherapy. Sarah is an occupational therapist; a career that now interests Charlie as well. The thought of helping others is deeply appealing.
Charlie also has developed a growing interest in patient advocacy, based on a wealth of personal experience. She participates in meetings with the YPF or Young People’s Forum at her hospital. The group convenes in efforts to improve the patient-doctor paradigm for teenagers. She feels the way doctors talk to teenagers in the hospital has a lot of room for improvement. Sometimes Charlie feels like doctors only talk to her parents, and other times she feels doctors have oversimplified what was going on to her. Medical professionals also have a knack for exacerbating anxieties and insecurities—something she herself feels prone toward.


It seems strange to look forward to an additional hospital trip, but as Charlie thinks of her future, she cannot escape the omnipresence of the medical world. She recalls all the hours of her life spent in hospitals and recognizes the wealth of knowledge she has gained from them. It is not just scientific acumen—but the experience of being a patient: of traveling to treatments; of waiting long hours in a room with nothing more than a TV; of casually being told life-altering realities; of present certainty, utter confusion, harrowing fear, and being gifted new life.
Charlie lowers herself off the rock wall, back to the floor, knees bent, and clenches her tired hands. She feels her heart beating rapidly in her chest and is reminded of all the components that allow this most important organ to function correctly. Catching her breath, she finds Tom and they strategize their next climb together. After a few minutes, her heartbeat settles and she approaches the wall, lowering herself into position, ready for another try.



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