An Alberta family devastated by a terminal diagnosis for their two daughters has just learned that their youngest son has the same ultra-rare disease.
A genetics expert says the chances of all three children having it are almost impossible.
Kiara, ten, and Hannah Lamprecht, eight, of Evansburg, were diagnosed with juvenile Batten disease in 2020.
The genetic disease affects less than one in 100,000 children.
It starts with loss of vision, eventually leading to blindness as it shuts down the body. Some patients develop dementia. Many do not reach the age of 20.
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The family were still in shock when genetic tests in early June revealed that five-year-old AJ also had Batten. The news was particularly shocking as AJ has a different birth mother than the daughters.
“The odds of that happening are… off the charts,” the children’s father, Jacob Lamprecht, told Global News.
“Two different mothers, from the other side of the world, exactly the same gene.
“The odds of this… coming together for all three parents to be carriers of this rare disease and all three children to have it are about one in eight billion,” said genetic counselor Sara Gracie.
There are less than eight billion people on Earth.
Gracie worked with the Lamprechts in the Department of Ophthalmology at the Royal Alexandra Hospital in Edmonton. She says most calculators don’t go high enough to do the math on these odds.
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Batten disease is autosomal recessive. Two copies of a defective CLN3 gene, one from each parent, must be present for it to develop.
According to Gracie, less than one percent of the population carries the abnormal gene. And the chance that both parents pass it on to their child is only 25%.
Add another surrogate and a half-brother, and the situation becomes incredibly rare. In fact, Gracie chose to test AJ out to give the family some peace of mind about her. She says her test result was shocking.
“In all honesty, I cried at my desk.
“I was heartbroken for this family. It was hard to believe. “
The Lamprechts also have a 13-year-old son, Drake. He has a different biological father than his siblings and does not have Batten’s.
Drake and AJ’s birth mother Katie Lamprecht says AJ’s vision is rapidly declining. It’s already about the same level as Kiara, who is five years older than him. At seven, Hannah is almost completely blind.
“(Hannah) prayed for the first time last night. She said, ‘Fix my eyes, my God, and fix Kiara’s eyes… and fix AJ’s eyes too.
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Children must use special equipment to view their school books.
Girls take cannabidiol (CBD) to help prevent seizures and resveratrol for antioxidants. There is no cure for Batten’s disease, but the family is hoping to find relevant clinical trials around the world. There is also the possibility of stem cell therapy in the United States.
The good news is that the doctors in Edmonton caught the disease from the siblings quite quickly; a diagnosis of Batten usually takes about eight years.
The family has been in contact with Make-A-Wish Canada about a trip to Disneyworld. They want children to see it while they still can.
“It’s an emotional roller coaster,” said Jacob and Katie. “One day you’re fine; the next day you collapse.
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