A family from Evansburg, Alta., with three children who have been diagnosed with the rare and fatal Batten disease has been given a new kind of hope due to an older medication.
Members of the Lamprecht family said they were told the chances of three of their four children having this condition is one-in-eight-billion. Batten disease is something Kiara, 12, Hannah, 10, and AJ, seven, are living with. The two girls have a different mother than AJ.
Batten disease is an autosomal recessive genetic disease, meaning both parents must pass the gene onto their child for the disease to be present.
The illness causes blindness, seizures, developmental delays and early death. Most patients with Batten disease don’t make it past 20 years of age.
AJ is considered to be the most severe of the three cases in the Lamprecht family.
“We think his (father’s) gene is a deletion and mine is a deletion, whereas the girl’s mum is maybe a mutation,” said Katie Lamprecht, AJ’s biological mother.
The Lamprecht family has been travelling the world for the last two-and-a-half years with the hope of finding some sort of treatment for the children.
The family found a gene therapy clinical trial in South Africa which they thought was the perfect opportunity.
“They were gonna recruit right way — it was six months away,” said Jacob Lamprecht, the children’s father. “And then we ran down there and came back and (they said), ‘Oh sorry, we’re stopping it.'”
While that trial ran out of funding, the family found another source of hope: a medication called Miglustat.
Miglustat is a drug that was created for Gaucher’s disease, a rare genetic disorder that prevents the body from breaking down lipids.
The medication is being used off-label for Batten disease but can extend the children’s life expectancy.
“This could extend their lives five, 10, 20 years. Who knows?” Jacob Lamprecht said.
The medication is being used in the U.S. to treat children with Batten disease but the Lamprechts are the first to use it in Canada.
The Lamprechts collected U.S. data on the effectiveness of the medication when it comes to Batten disease and presented it to doctors in Canada with the hope of getting it prescribed for their children. They are even collecting their own data for what is essentially their own clinical trial.
The medication is very expensive – approximately $25,000 per child, per month.
Luckily the pharmaceutical company Sandoz is covering 100 per cent of the medication cost for the first year for the Lamprechts.
“These are the first children in the world getting a treatment for Batten disease because there’s been nothing before this. Zero,” Jacob Lamprecht said. “So we’re very very grateful — so grateful to be part of this.”
But that isn’t the only good news the family has received this year.
All three children have been granted a trip by the Make-A-Wish Foundation.
AJ’s choice was to go to Hawaii, Kiara’s choice was Disneyworld and Hannah’s choice was to go visit panda bears in China.
“I want to have fun (and), you know, eat ice cream,” said Kiara.
For the first time since the diagnosis Katie and Jacob Lamprecht are dreaming of their children’s futures.
“We’re gonna have to make them into functional adults, possibly,” Katie Lamprecht said with a laugh.
But Katie and Jacob Lamprecht said they learned a hard parenting lesson. They said they were spoiling their kids because they wanted to make whatever time they have as happy as possible.
“We (didn’t) want to stress them out,” Katie Lamprecht said. “We just (wanted) them to have fun all the time, but it’s amazing, like, that isn’t what people need.”
“It doesn’t make you happy,” Jacob Lamprecht said.
The parents still hope that one day they can find gene therapy to completely cure the disease.
“Enjoy life,” Jacob Lamprecht said.
“Count your blessings. You know, there’s a lot of people a lot worse off than us and then our children,” Katie Lamprecht said.
Neither parent has been able to work full-time since their children’s diagnosis and some friends have started a GoFundMe page to raise money to help pay for gene therapy if it becomes available, as well as to help the family in the event they need to pay for the Miglustat for their children out of pocket in the future.