Kelsey Lock’s ideal Father’s Day involves eating ice cream in the park with his daughter — a simple plan, but one bordering on miraculous.
Lock’s daughter, Charlie, was born with erythropoietic protoporphyria or EPP, a disease sometimes described as an allergy to the sun. Since she was a baby, ultraviolet light, even in minuscule amounts, would cause the little girl’s skin to burn, blister and swell. More insidious, it would also begin to destroy her liver.
As a result, Charlie’s life was lived inside. The world beyond the tinted glass of her Langley home was largely unknown to the toddler, now 3.
“Any time we’d see a playground, it was rough,” recalled Lock. “To see other kids playing outside and know that Charlie could never do that was really hard.”
Late last year, Charlie’s liver began to fail. It is impossible to prevent all exposure to ultraviolet light. Unseen, porphyrins had been accumulating in the toddler’s liver, causing it to swell to three times its normal size.
People with EPP have a shortage of an enzyme that metabolizes porphyrins, which help with the production of hemoglobin. Without the enzyme, porphyrins accumulate in the blood, reacting with sunlight to cause burns. In a small percentage of people with EPP, including Charlie, they also accumulate in the liver.
To save his daughter’s life, Lock was asked to donate part of his liver. The family travelled to the Hospital for Sick Children in Toronto for the procedure. Working in a darkened operating room, a surgeon removed Charlie’s damaged liver and gave her a piece of her dad’s liver.
“I don’t think about it too much,” said Lock, “but every now and then, it hits me. I can say that I’ll always be there for her, and it’s literally true. I will.”
But Charlie’s journey — from the family apartment with tinted windows in Langley to a park in Toronto on Father’s Day — was only beginning.
Doctors told the family they were essentially rewriting the playbook with Charlie’s case. Porphyria is rare, and EPP rarer still. Charlie’s form, which destroys the liver, hasn’t been the subject of much research. But because the toddler still had porphyria, the cause of her liver failure hadn’t been addressed by the transplant. The cycle would begin again.
So Lock was tapped to donate his bone marrow. A perfect match would give Charlie’s body the ability to create the enzyme that breaks down porphyrins, essentially curing both her liver problems and sun allergy. But no one in Charlie’s family was a perfect match. Because the girl has two exceptionally rare genetic markers, there were no matches on the international bone marrow registry either.
Still, doctors believed there was a good chance Lock’s bone marrow could at least prevent the destruction of Charlie’s new liver.
“The idea is that the bone marrow reprograms your entire blood-making system, but how well that would work was unclear,” explained Charlie’s mom, Bekah Lock.
In February, Kelsey Lock watched as blood was drawn from his body and passed through a sophisticated machine that looked like a “crazy water clock” to filter the stem cells from the rest. A few days before the procedure, he’d been given a medication that caused his bone marrow cells to leach into his blood, which left him feeling strange.
“I could feel all my bones,” he said. “When I stood up fast, I’d feel pressure in my ribs.”
Lock’s bone marrow was given to Charlie, after her own bone marrow and immune system had been wiped out by two weeks of chemotherapy.
Almost four months after the procedure, the family remains hesitant to use the word “cure.”
The transplant was largely a success. Early results showed 100 per cent engraftment, which meant Charlie’s bone marrow cells had been replaced by her dad’s cells and they were functioning as they should. The number has dropped a little since then.
“I’d say cautiously optimistic,” said Bekah, when asked how the family is feeling about the future.
After eight months in Toronto, the family wants to come home. Charlie still has several small hurdles to clear related to the liver transplant. The doctors are also monitoring her bone marrow numbers. Her immune system remains severely compromised from the transplants. But the family has been told they could be back in B.C. by fall.
Charlie’s first foray into the world outside her window was a quiet affair.
A few days before, her parents brought her to the wall of windows fronting the hospital. As they looked over the city, the little girl seemed content and comfortable despite the light flooding the corridor.
In early April, Charlie received permission to leave the hospital for a few hours. Instead of bundling her into a vehicle with tinted windows, the family walked in the sunshine to their apartment at Ronald McDonald House.
“I kept the cover off the stroller,” said Bekah. “It was kind of anti-climatic in a way, but it was also very, very sweet.”
For Kelsey Lock, the time in Toronto has been an opportunity to spend unlimited hours with Charlie. On leave from his job as a framer, he said it feels like he’s being “forced to take a vacation.”
His Father’s Day will be about simple pleasures: An ice cream cone, a park and a little girl with the whole world before her.
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