‘Time is of the essence’: Alberta family seeking treatment for 3 kids with rare, degenerative illness – CBC.ca

Katie and Jacob Lamprecht are doing what they can to buy more time for their three children, all of whom have a rare degenerative illness that has no cure.

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

Then five-year-old AJ, theirhalf-brother,was also diagnosed with the illness last month.

As the parents scour research seeking potential treatments, fundraisers are underwayto allow the family to afford them.

"Time is of the essence. We don't have years and years and years to figure this out," said Katie Lamprecht from the family's home in Evansburg, Alta.,about 90 kilometres west of Edmonton.

Batten disease, an inherited and fatal genetic illness, has various forms. In this case, it's caused by a mutation that results in cells not producing enough of the CLN3 protein that helps clear waste products. Over time, toxins build up and brain cells start to die.

Symptoms usually start showing in children aged four to seven. The first is often vision loss, followed by changes in cognition and behaviour, seizures, then declining motor skills.

Those with the disease will die in their teens or 20s.

CLN3 is a rare condition in Canada, according toStphane Lefranois, researcher professor at the Institut National de la Recherche Scientifique in Quebec.

Juvenile Batten disease develops when a child inherits two copies of the genetic mutation from their parents, each of whom would be carrying one defective gene. Because two defective copies are needed for Batten disease to develop, the parents would not be affected, said Lefranois.

The mutation's prevalence varies throughout the world. In some regions,it shows up in one of 12,000 live births; in others, it's found in one of 100,000 births, he said.

It's"quite rare" that sisters Kiara and Hannah were diagnosed with the disease,said Lefranois, but theodds of AJ's diagnosisgiven he has a different motherare "astronomically low."

Jacob Lamprecht moved to another part of the world andmarried Katie, an unknowing carrier,and AJ inherited both mutations. The Lamprechtshave been told the chance of their situation occurring is about one in eight billion.

According to the parents, both girls are legally blind. AJ's eyesight is worsening but he hasn't had a vision test yet.Hannah has developed behavioural issues, with episodes of kicking, screaming and biting.Abrain scan conducted last year shows she has sufferedsome brain damage and is experiencing seizures, said her father.

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

"There's nothing concrete that we can follow," said Katie Lamprecht.

There is currently no cure for CLN3, so most treatment just manages the symptomslike medications for seizures or Braille instruction for children losing their vision, said Dr. Jonathan Mink, CLN3 researcher and a professor of pediatric neurology at New York's University of Rochester.

But clinical trials in the United States some completed, some ongoing are makingheadway, he said.

Among them are clinical trials for gene therapy, a technique that modifies a person's faulty genes to help cells function normally.

"The hope is, particularly with gene therapy, that we could give something to a very young child and that would correct the problem and they never have any symptoms," said Mink.

The Lamprechts are looking at gene therapy, which is deemed an experimental treatment option by Health Canada, as well as a stem cell operation. The latter is a last resort, they said, requiringtravelto the U.S. and a cost ofabout $1.8 million per child.

Some people have undergone such operations, but Mink would advise against it because there aren't many published results and, through his clinical practice, he hasn't seen any significant improvement in patients.

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

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 their remaining years, said Mink.

Families who have more than one child with the disease feel a greater impact, but Mink and his team are "so impressed by how resilient people are."

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

COVID-19, for example, became an opportunity for Katie Lamprechtto embracefull-time homeschooling, lettingher be with them every day.

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

"We're not just sitting around crying all the time," said Katie.

"Most of the time I feel like we're going to beat this."

Excerpt from:
'Time is of the essence': Alberta family seeking treatment for 3 kids with rare, degenerative illness - CBC.ca