Charlie Lock’s Christmas came with a very special gift.
On Dec. 4, doctors removed the Langley toddler’s liver and gave her a piece of her dad’s liver. The transplant, performed by surgeons at Sick Kids in Toronto, is one of the first steps in a complicated plan to give the little girl with a severe sun allergy a more normal life.
“The transplant went really well,” Charlie’s mom Bekah Lock told Postmedia by phone from Toronto.
“We’re not out of the woods yet, but we’re grateful for how well it went.”
The next six months will see more medical procedures for the two-year-old girl and her dad, Kelsey, who was discharged from hospital a few days after his surgery, but continues to heal as his liver regenerates.
In a few months, he’ll give his tiny daughter another gift — this time, a bone-marrow transplant — that will help to save her new liver from the ravages of porphyria.
In July, two-year-old Charlie and her mom Bekah Lock met with Postmedia to talk about life with erythropoietic protoporphyria (EPP) — a genetic disease that is sometimes described as an allergy to the sun.
Even small amounts of ultraviolet light cause the toddler’s skin to burn, blister and swell. But it’s the invisible damage — the accumulation of porphyrins in her liver — that can eventually be life-threatening.
Charlie cannot go outside, not even on the cloudiest days, said her mom. The windows in the family’s Langley home are coated with UV-blocking film. To leave, she must be bundled into a stroller with a protective cover and then rushed to a vehicle with similarly coated windows.
She can’t go to a park, or visit a petting zoo, or have a play date at a friend’s house.
Her brief hours outside — the long walks her mom and dad would take with her before she was diagnosed a few weeks after her first birthday — have been forgotten.
“It’s a very small world that she lives in,” Lock told Postmedia in July.
“She’ll stare out the windows and point at the leaves in the trees. She knows what’s out there, but she’s never fully experienced it.”
Porphyria, specifically EPP, can be excruciatingly painful. The family was prepared to adapt to a life without sunlight, but shortly after Charlie’s diagnosis, there was more bad news.
People with EPP have a shortage of a particular 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, porphyrins also accumulate in the liver.
Like lightning striking twice, Charlie had the rare form of EPP, which destroys the liver. Tests showed scarring similar to that of an alcoholic.
Despite the risks associated with the procedure, doctors began planning a bone-marrow transplant, which could help the little girl metabolize porphyrins. But because Charlie has two rare genetic markers, a perfect match could not be found among family or the international database. Doctors decided Kelsey’s bone marrow, although not a perfect match, could at least halt the damage to the toddler’s liver and possibly help reduce the impacts of sun exposure.
Two weeks before the bone-marrow transplant was set to take place, Charlie became seriously ill. Her enlarged liver was pressing on her lungs, leading to pneumonia. Her tiny, sick body would no longer be able to handle the chemotherapy needed to destroy her own bone marrow in preparation for the transplant.
A new plan was created. Charlie needed a new liver, so instead of donating his bone marrow, Kelsey donated a piece of his liver instead. The procedure could not be done in B.C., so the family travelled to Toronto in late fall.
When describing Charlie’s tumultuous year, Bekah Lock is cheerful and optimistic.
The young mom celebrates the small things, like being able to hear Charlie’s little voice — and her laughter — after she was removed from a ventilator after the transplant.
“We’re not all the way there, but getting those little pieces of her back has been so good,” she said.
Lock admitted it was tough for herself and Kelsey to be away from family over Christmas, but in the same breath, she expressed gratitude for the doctors, nurses and staff at the hospital, as well as for Ronald McDonald House, where the family has been staying while in Toronto.
“They’re taking great care of us,” she said.
After Charlie becomes stronger and gains some weight, the little girl will undergo chemotherapy in preparation for the bone-marrow transplant. The family plans to remain in Toronto for that process and doesn’t expect to return to B.C. for about six months.
“It’s out of our hands,” said Lock. “We know that there will be ups and downs. It never goes perfectly to plan. But right now things are good, so we’re just going to celebrate that.”
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