When Anna Lambert and Joey Lapointe decided to have a baby, they knew any child they conceived had a 50-50 chance of inheriting a debilitating genetic disease.
Lapointe carries the mutation for Huntington’s disease, passed on by his father.
Huntington’s is a hereditary and fatal neurological illness which typically sets in in middle age, destroying a person’s mental and physical abilities. Early symptoms include involuntary movements, cognitive decline and mood disturbances.
There is no cure.
To rule out the possibility of bearing a child with the mutation, Lambert had prenatal testing around the 12-week mark of her pregnancy.
The result was positive, but the couple was encouraged by genetic markers that showed the fetus could be carrying the mutation for late-onset Huntington’s, which typically develops after the age of 60.
They chose not to terminate the pregnancy. However, last summer, the baby was stillborn.
Her voice catching, Lambert described the stillbirth, 24 weeks into her pregnancy, as “traumatic.” She and her husband only had a week to grieve before they both had to return to work.
“It’s something that no one should have to go through,” Lapointe said.
IVF an option — but costly
Still wanting a child but hoping to avoid reliving such a painful experience, the couple discussed their options. One of them is in-vitro fertilization (IVF).
Embryos conceived through IVF can be screened for genetic mutations such as Huntington’s, and only disease-free embryos are then transferred to the mother’s uterus. That procedure is known as pre-implantation genetic diagnosis.
However, since cost overruns led the former Liberal government to cut public funding of IVF in 2015, there’s no financial assistance for couples in Lambert and Lapointe’s situation.
To cover it themselves would be a huge financial hit: a single cycle of IVF, plus the genetic testing of the embryos, could set them back by as much as $15,000.
Although Quebec now offers a one-time tax credit to help cover fertility treatments, based on household income, the couple doesn’t qualify.
The rules state that neither potential parent can have children already. Lapointe has two daughters from a previous marriage.
Lambert said she’s always wanted to be a parent and doesn’t think she should be penalized because her partner has children.
She calls the exclusions to the tax credit unfair — and short-sighted. In the long run, paying for the treatment could save the health care system tens of thousands of dollars.
“It might only take one round in order to get a child that’s Huntington’s disease-free,” said Lambert. “We would never have to worry about the disease being passed on again.”
‘A drop in the ocean’
When IVF was publicly funded in Quebec between 2010 and 2015, the McGill University Health Centre’s reproductive centre performed thousands of IVF cycles.
Dr. William Buckett, the centre’s director, said of those, only 60 or 70 cases a year involved testing embryos for hereditary genetic diseases.
“It really is a drop in the ocean,” he said.
The low volume of cases is also reflected in statistics from countries such as the United Kingdom, which covers up to three full IVF cycles for parents who risk passing on Huntington’s disease, said Buckett.
A round of IVF plus pre-implantation genetic testing is much less costly than caring for someone with Huntington’s disease or even a late termination of a pregnancy and the psychological costs associated with that, he said.
“Reducing the amount of suffering by offering it is, I think, far and away more cost-effective,” said Buckett.
Buckett said if the government is concerned about costs spiralling out of control, it could follow the example set by the U.K., which has a regulated central agency which approves which conditions it will cover.
Removing disease from family tree
During the 2018 election campaign, Coalition Avenir Québec promised to reinstate a public IVF program and offer at least one cycle at no cost to would-be parents by 2020.
This week, a spokesperson for the Health Ministry told CBC the program’s criteria is still being developed, and it’s too early to say what will be covered.
The Huntington Society of Québec said it plans to send a letter to Health Minister Danielle McCann, outlining the advantages of covering the procedure for people who suffer from genetic disorders.
Danièle Bouret, a social worker at the society, said people who have Huntington’s typically develop symptoms between the ages of 30 and 50 — what should be the most productive years of their lives. Eventually, an afflicted person is not able to work, drive or look after themselves.
“Every part of that person is affected,” said Bouret.
Once the symptoms set in, most people die within 15 to 20 years.
Bouret, too, believes that in the long term, it’s cheaper for the government to help ensure a child isn’t born with Huntington’s in the first place.
Having IVF funding available would give potential parents peace of mind.
“It would be taking a very difficult load off of their shoulders because knowing you might have given that faulty gene to your child is devastating,” said Bouret.
The testing also has a lasting benefit. If a child doesn’t have the faulty gene, it can’t pass on Huntington’s to future offspring.
Removing such a devastating disease from their family tree is important to Lambert and Lapointe.
Lapointe’s father’s Huntington’s disease has advanced to the stage where he is bedridden and living in a long-term care institution.
Lambert knows at some point, her husband will also develop symptoms. If they can help it, they don’t want a child of theirs to ever have to go through that, she said.
“They don’t need to watch their dad going through that decline, then thinking, ‘That could be me.'”
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