An Alberta family devastated by a terminal diagnosis for their two daughters has just found out their youngest son has the same, ultra rare disease.
One genetic expert says the chances of all three children having it are nearly impossible.
Ten-year-old Kiara and eight-year-old Hannah Lamprecht of Evansburg were diagnosed with Juvenile Batten Disease in 2020.
The genetic disease affects less than one in every 100,000 children.
It starts with vision loss, eventually leading to blindness as it shuts down the body. Some patients develop dementia. Many don’t make it to the age of 20.
‘A deck of cards no one should be dealt’: Ontario siblings fight rare disease, hope for cure
The family was still reeling when genetic testing in early June revealed five-year-old AJ also has Batten’s. The news was especially shocking because AJ has a different biological mother than the girls.
“The odds of that happening are… off the charts,” the children’s father, Jacob Lamprecht, told Global News.
“Two different moms, all the way from the other side of the world, exactly the same gene.
“The chances of this… coming together that all three parents carry this rare condition and all three kids have it, is about one in eight billion,” said genetic counsellor Sara Gracie.
There are fewer than eight billion people on Earth.
Gracie has been working with the Lamprechts in the department of ophthalmology at Edmonton’s Royal Alexandra Hospital. She says most calculators don’t go high enough to do the math on these odds.
Health Matters: Alberta sisters diagnosed with rare, devastating disease
Batten’s 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 per cent of the population carries the abnormal gene. And the chance of both parents passing it to their child is just 25 per cent.
Add in another carrier mother and a half-brother, and the situation becomes incredibly rare. In fact, Gracie chose to test AJ to provide the family with some peace of mind about him. She says his test result was shocking.
“In all honesty, I cried at my desk.
“I was so 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 biological mother, Katie Lamprecht, says AJ’s vision is declining quickly. It’s already around the same level as Kiara’s, who is five years older than him. At seven, Hannah is almost completely blind.
“(Hannah) prayed last night for the first time. She said, ‘Fix my eyes, God, and fix Kiara’s eyes… and fix AJ’s eyes too,’” said Jacob and Katie.
Coronavirus: Young Canadians with rare diseases feeling impact of pandemic
The kids need to use special equipment to see their school books.
The girls are taking cannabidiol (CBD) to help prevent seizures, and resveratrol for antioxidants. There are no treatments for Batten’s, but the family is hoping to find relevant clinical trials around the world. There is also the possibility of a stem cell therapy in the U.S.
Friends are raising money for the family through fundraising campaigns on gofundme and Instagram.
The good news is Edmonton doctors caught the siblings’ disease relatively quickly; a Batten’s diagnosis usually takes about eight years.
The family has been in contact with Make-A-Wish Canada about a trip to Disneyworld. They want the children to see it while they still can.
“It’s an emotional rollercoaster,” Jacob and Katie said. “One day you’re OK; the next day you’re falling apart.”
© 2021 Global News, a division of Corus Entertainment Inc.