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Katie and Jacob Lamprecht are doing what they can to save time for their three children, all of whom suffer from a rare and incurable degenerative disease.

Last fall, Kiara Lamprecht, 10, and her sister Hannah, eight, were diagnosed with juvenile neuronal ceroid lipofuscinosis, also known as CLN3 or juvenile Batten disease.

Then, five-year-old AJ, their half-brother, was also diagnosed with the disease last month.

As parents scour the research for potential treatments, fundraisers are underway to enable the family to afford them.

” Hurry up. We don’t have years and years to figure that out, ”said Katie Lamprecht of the family home in Evansburg, Alta., About 90 kilometers west of Edmonton.

Kiara, right, and Hannah, left, were each diagnosed with juvenile Batten disease last fall. Both are now legally blind and must use special equipment to see and do their schoolwork. (Submitted by Katie Lamprecht)

Batten disease, a hereditary and fatal genetic disease, takes many forms. In this case, it is caused by a mutation that causes cells to not produce enough CLN3 protein which helps eliminate waste. Over time, toxins build up and brain cells begin to die.

Symptoms usually start to appear in children between the ages of four and seven. The first is often loss of vision, followed by changes in cognition and behavior, seizures, and then decreased motor skills.

People with the disease will die in their teens or twenties.

The most unlikely odds

CLN3 is a rare disease in Canada, according to Stéphane Lefrançois, professor-researcher at the National Institute of Scientific Research in Quebec.

Juvenile Batten disease develops when a child inherits two copies of the genetic mutation from its parents, each of which is said to carry a defective gene. Because two defective copies are needed for Batten disease to develop, parents would not be affected, Lefrançois said.

The prevalence of the mutation varies across the world. In some areas, it appears in one of 12,000 live births; in others, it is found in one of 100,000 births, he said.

It is “quite rare” that sisters Kiara and Hannah have been diagnosed with the disease, said Lefrançois, but the chances of AJ’s diagnosis – given that he has a different mother – are “astronomically low”.

Jacob Lamprecht moved to another part of the world and married Katie, an unconscious carrier, and AJ inherited both mutations. The Lamprechts have been told that the likelihood of their situation happening is about one in eight billion.

Treat the symptoms

According to the parents, the two daughters are legally blind. AJ’s eyesight is deteriorating but he has not yet had a vision test. Hannah developed behavioral problems, with episodes of kicking, screaming and biting. A brain scan taken last year shows she suffered brain damage and seizures, her father said.

AJ Lamprecht was diagnosed with juvenile Batten disease in June. The odds of him inheriting the disease were incredibly low because he has a different mother than Kiara and Hannah. (Submitted by Katie Lamprecht)

So far, over $ 113,500 has been raised for potential treatments. But the parents are unsure of their next move.

“There is nothing concrete that we can follow,” said Katie Lamprecht.

There is currently no cure for CLN3, so most treatments only manage the symptoms – like seizure medication or braille instruction for children who lose their vision, said researcher Dr. Jonathan Mink. CLN3 and professor of pediatric neurology at the University of Rochester in New York.

But clinical trials in the United States – some completed, others underway – are progressing, he said.

Among them are clinical trials of gene therapy, a technique that changes a person’s defective genes to help cells function normally.

“The hope is, especially with gene therapy, that we can give something to a very young child and that would correct the problem and that he will never have any symptoms,” Mink said.

The Lamprecht are studying gene therapy, seen as an experimental treatment option by Health Canada, as well as a stem cell operation. The latter is a last resort, they said, requiring travel to the United States and costing around $ 1.8 million per child.

Some people have had such operations, but Mink would advise against doing this as there aren’t many published results and, thanks to his clinical practice, he hasn’t seen significant improvement in patients.

Undergoing stem cell surgery could also disqualify a child from future clinical trials or treatments, he added.

Far-right Drake Lamprecht has a different biological father and does not have Batten disease, his mother Katie Lamprecht has said. (Submitted by Katie Lamprecht)

The family keeps hope

After the initial diagnosis, families often go through the stages of grief before focusing on giving their child the best possible quality of life for the years that remain, Mink said.

Families who have more than one child with the disease feel a greater impact, but Mink and his team are “so impressed with the resilience of the people.”

Jacob and Katie Lamprecht are among the resilient, savoring time with their children while focusing on how to save them.

COVID-19, for example, has become an opportunity for Katie Lamprecht to embrace full-time home schooling, leaving her with them every day.

Kiara has been approved for Make-A-Wish Canada, so the family is wondering whether to visit SeaWorld or Disney World.

“We don’t just sit around crying all the time,” Katie said.

“Most of the time I feel like we’re going to beat this.”

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