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Delta school teacher fights 'incurable' disease
A Delta Secondary teacher is breaking her silence on an "ultra rare" genetic disease that her son has in the hopes of raising money to put him in an experimental trial in the United Kingdom.
Pam Mann says her son Eshaan, who turns seven years old on Sept. 24, was born with Alkapotonuria (AKU), an incurable disease so rare that only one in 250,000 people are born with it. AKU is more commonly known as Black Bone Disease because often people with AKU don't know they have it until a surgeon cuts them open and finds out their bones are black.
Eshaan is the only known patient in the province with AKU and the only one BC Children's Hospital has ever seen.
"A lot of people at school are asking me, why didn't you tell us, why didn't you say anything," says Mann, who lives in Surrey. "But we didn't want anybody's pity. We didn't want anybody feeling sorry for us and there's nothing anybody could do."
When Eshaan was born his mother noticed his urine had a red appearance. Although normal for many infants, Eshaan's discoloration persisted.
"We became quite alarmed," says Mann. "We talked to three pediatricians and they all said he's developing fine, we've done the tests, there's no blood in the urine so it's something you're eating. They just kind of dismissed it."
But Mann found that when she washed her son's cloth diapers the urine wouldn't wash out completely, leaving a black mark behind permanently. So they took the diapers in for a chemical analysis.
Six months later the biochemical diseases lab at BC Children's Hospital confirmed Eshaan has two recessive genes from both parents responsible for AKU.
Eshaan is missing an enzyme that should be breaking down the homogentisic acid that is being deposited into his joints, heart, and internal organs. Over time the acid will eat up his cartilage leaving him in a wheelchair by the age of 20, and he will also develop heart disease and other serious health complications.
Mann says Eshaan is still an outwardly normal child who isn't yet aware of his condition. Despite going to BC Children's Hospital for frequent checkups, Mann hasn't told him the real reason.
"All I could tell my son was you're my little super hero and they want to check you out because they want to see why you're so great," she says. "But any time he has any issues, like his knees hurt or something happens, we automatically assume it's that."
Although AKU is incurable there are some treatments to slow the symptoms, including a protein restricted diet to keep the acid from being created by the body.
During an Internet search Mann came across an experimental clinical trial in the United Kingdom which has showed successful results during testing on mice. The experimental drug caused the mice to stop making the homogentisic acid.
Although her son might be too young for the trial because testing is still required for dosage and side effects, Mann is determined to get Eshaan enrolled.
"This is our only hope because nobody's going to listen to 17 of us here in Canada," says Mann, adding she has talked to one other family in Edmonton and is aware of another in Winnipeg but finding and contacting other families with AKU has proven difficult.
Although the clinical trial in the UK seems like a long shot, Mann says it's better than six years ago when they had no hope.
The goal now is to raise a whopping $98,000, but since she made her story public at Delta Secondary, Mann has collected $28,700 in just 13 days.
"The generosity of this school, I've never seen such goodwill and such kindness," she said, adding one class raised $100 in three days just collecting change in jars.
To help Mann reach her fundraising goal visit indiegogo.com and search for "Cure Black Bone Disease."