‘Screening for genetic disorders gave us peace of mind’

Now aged 28, Gemma first met her husband Craig nine years ago at university in Leeds, when thoughts of starting a family were far from their minds. It was only after they got married in 2018 that they were screened for Jewish genetic disorders.

“I still hear it from friends who say ‘it’s OK, my husband’s Sephardi’, but it only takes one family member to pass the genes down – as we found out,” says Gemma.

Speaking publicly for the first time, the couple say they too “thought we were fine”, until Craig’s parents discovered that the Canavan’s gene, which leads to the rare and progressive neurological Jewish genetic disorder (JGD), ran in their family.

“It was a shock to me,” says Craig. “My parents were proactive and thought they’d get tested so we could have the all-clear and relax.”

It was a big moment, the significance of which was lost on no-one, because of a family tragedy on Gemma’s side years earlier.

“I always knew I might be a carrier of Canavan’s disease, which is more common in Ashkenazi Jews, because both my parents are carriers,” says Gemma. “It means there’s a high chance of the children being affected or being carriers.”

Indeed, Gemma’ older sister Madeleine Curtis was affected by the disorder, discovered after she missed a series of developmental milestones. “It was clear something was seriously wrong at an early stage,” says Gemma. Madeleine devastatingly passed away in February 1997 at the age of nine.

Madeleine was born in the 1980’s, when research into JGDs was still in its infancy and tests were only available for a few diseases, such as Tay-Sachs. Very little was known at the time about Canavan’s disease.

After the discovery, Gemma says “a big question mark hung over my parents’ heads about having more children”.

IVF was not an option because it was not a fertility issue. “They were told they could have more children naturally, but in doing so they ran a 25 percent risk of having another disabled child.

“Fortunately, they had two more healthy children – my younger sister and I – but not without huge sacrifice and anxiety, all of which could have been avoided if reliable research and testing had been available.”

This meant that the discovery that Craig’s family carried the gene was a heart-in-the-mouth moment. The chances of the couple both being carriers shrank from one in 13,500, to one in two, with a one in four chance of their children being affected.

“We were in shock,” says Craig. “We felt sick to the stomach, but we were on the same page in terms of what to do.” Gemma nods.

“Two people being the carrier of the same gene is very rare,” says Gemma. “Carrying the same recessive gene as her partner’s parents is really uncommon. But not as uncommon as we thought!”

We felt sick to the stomach, but we were on the same page in terms of what to do

The couple were told about Jnetics, set about getting screened, and ultimately avoided the anguish Gemma’s parents suffered, but were “on shpilkes” before then.

“After ten long weeks of waiting, on our wedding anniversary in fact, we found out that Craig was not a carrier,” says Gemma. “Although I am, and although our children may be, it meant that our chances of having an affected child were extremely low. It gave us the peace of mind that others sadly don’t have.”

Did they actually discuss ‘what if’ during the wait? “We did,” says Craig. “We decided that we would go down the IVF route.” Gemma is in full agreement. “I couldn’t do what my parents did and risk it,” she says.

“It’s heart-wrenching. They were very, very lucky – neither my sister nor I were affected. Had we been, they’d have had to make a horrible decision about what to do. I just don’t think I could do that.”

Although I am, and although our children may be, it meant that our chances of having an affected child were extremely low. It gave us the peace of mind that others sadly don’t have

Thankfully, that was not necessary. Last year, the couple had a beautiful, healthy baby daughter they called Mia, named after Madeleine. “We’re two of the lucky ones,” they say.

“We have friends who say they’re not going to get tested. We do everything we possibly can to convince them that it’s worth it.”

They say they now hope young Jewish couples hearing their story “realise how important it is to get tested, even if you think there is little to no chance that you can be affected, because you might be a carrier without even knowing”.

For more information visit www.jnetics.org