While most children are enjoying the sunny summer weather outside, two-year-old Charlie Lock is stuck inside her parents’ Langley City condo.
The scabs on her face have healed, but photographs remind her parents of the intense burns she received when she was exposed to the sun.
The toddler suffers from Erythropoietic protoporphyria (EPP), a rare genetic disorder caused by elevated levels of porphyrin (a chemical that absorbs visible light) in the blood.
About 300 cases of the disease have been reported worldwide, according to the American Porphyria Foundation, but Charlie has an even rarer, more damaging form that causes porphyin to build up in her liver.
“She’s the youngest documented case of it being this severe this early,” said Charlie’s mom, Bekah Lock.
“The very simple version is, she can’t go outside or she can’t be near any open light sources. So even in a mall where there’s skylights, she can’t be anywhere near that.
“The UV (ultra-violet) rays in the sun — her body can’t metabolize them. And so it builds up to what feels like a second degree burn under her skin. It is incredibly painful.”
While some people with the disease are able to tolerate being outdoors on overcast days, Charlie cannot.
Instead, she remains inside, shielded from the sun by UV film installed on her parents’ apartment and vehicle windows.
While there is no cure for the disorder, Bekah and her husband, Kelsey, are hopeful a bone marrow transplant will greatly improve Charlie’s life.
If successful, the new bone marrow could allow her body to create the enzyme needed to break down porphyrins, and potentially save her from a liver transplant in the future.
Now she just needs a donor.
So far, no match has been found on the international database. If one isn’t found by the fall, either Behak or Kelsey will make a donation.
But both parents carry the gene that causes EPP, meaning there is a much lower chance the operation will work.
“There’s not a ton of cases where they’ve done a bone marrow transplant, but it’s our only option, realistically,” Bekah said.
“The hope is that at least it will save her liver, and we wont need to replace that as well.”
Through the chaos, one of the big issues Bekah has found is a lack of services for those suffering with the rare disorder. EPP is classified as a chronic illness, rather than a disability, meaning far less aid is available to Charlie and her family.
“That (classification) doesn’t quite cover what her limitations are,” Bekah said.
“Charlie will never be able to access public resources, she will never be allowed to take transit, she won’t be able to have a traditional job.
“If it was a more recognized disorder, she could get more support and be more normalized.”
Langley’s Corinna Mante has been campaigning the government to make this change since 2001.
Both of her sons, Willem, 19, and Marcus, 17, also suffer from EPP.
The Langley Times covered the Walnut Grove family’s journey extensively in the early 2000s.
At that time, the disorder wasn’t even considered a chronic illness. Mante had to fight with the provincial government to have it recognized, and then with the Langley School District to get a teacher’s assistant for her children, who couldn’t participate in any outdoor activity.
Now grown, the boys have learned to live an adapted lifestyle. Willem is studying kinesiology at the University of the Fraser Valley — a career that will allow him to work indoors — and Marcus is entering Grade 12 at Langley Fine Arts School. Both work part-time at McDonald’s in the back of the restaurant where there are no windows.
But they still face many challenges, especially financially. If the disorder were recognized as a physical disability, it would help them out immensely with the expenses of purchasing specialty UV shielding clothing from Australia, titanium dioxide sunblock and window filters, Mante said.
Each year Mante continues to advocate to the federal government. Working with specialists from Children’s Hospital, she dutifully fills out the paperwork for disability funding, only to be repeatedly denied.
“When we got the diagnosis, I’ll never forget the day. I looked at the doctor and I said, ‘Can you please connect me with the local support group?’ And she looked at me and she said, ‘There is no local support group. There are so few cases in the world, I’m so sorry.’
“So then I realized that my husband and I had to be the advocates for our kids. And we had to do whatever we could to assist any other people who were diagnosed with that,” Mante said.
“I had to source everything out, do all of the research myself. You’re looking at the support group of Canada — Bekah and I.
“Nobody knows what it’s like to not have anyone to say, here’s a local support group, here’s a pamphlet of the ‘dos’ and ‘don’ts,’ this is where you can purchase medication. There’s nothing available for us. It’s just us.”
In the case of Charlie, the Lock’s family friend, Melody McGillivray, has started a GoFundMe to help fill the gap.
Money raised will go towards covering the family’s expenses while Charlie is in hospital for her bone marrow transplant.
Bekha is currently a full time student at Kwantlen Polytechnic University, while Kelsey works full time in the construction industry. Both will be taking time off to help their daughter during her recovery.
For more information, visit the ‘Charlie’s family needs your help!’ GoFundME page.