As Malta debates testing embryos for nine specific genetic disorders, two couples tell Claudia Calleja what the suffering is like for a child with a specific rare condition, who faces certain death in early childhood. 

Joseph and Stacy know that, if she gets pregnant, their baby has a high chance of inheriting a severe genetic condition they both carry – a condition that means certain death following a brief life filled with suffering.

They know because they have lived it.

Three years ago, the couple lost their 16-month-old son to gangliosidosis, or GM1, a genetic disorder that progressively destroys nerve cells in the brain and spinal cord.

The diagnosis was essentially a death sentence.

Now, they want nothing more than to become parents again. But they are scared – they don’t want to risk seeing another baby suffer and die when this can be prevented. 

Their only hope to avoid this risk is pre-implantation genetic testing on embryos, a bill that is currently being debated in parliament and is due to be signed into law before parliament goes into recess. GM1 is one of the conditions that would be screened for if the law passes, as expected.

Sitting in an interview room at Times of Malta’s offices, away from public scrutiny, Joseph and Stacy join another couple, Simon and Roberta, to talk about why they agree with pre-implantation testing.

Both couples ask to remain anonymous for personal reasons. The names used here are not their real names.

“We are not the monsters that people have been calling us,” Joseph begins, referring to what he calls the public’s insensitive comments on the subject.

“We just don’t want to have to go through what we went through before. More important, we don’t want to put another baby through all the suffering we have seen.”

Joseph and Stacy, who are in their mid-30s, look at each other. They worry that their words could scare Simon and Roberta, who are still in the middle of their journey with GM1.

But Roberta is quick to add: “Don’t worry. We know what’s coming... we have to accept it.”

A short life of suffering

As the couples share their stories, both women highlight that they had normal, healthy pregnancies.

Alarm bells started to ring shortly after their babies were born: they started getting regular infections, having problems swallowing and breathing and had red cherry spots in their eyes.

At the age of five months, Joseph and Stacy’s son was diagnosed with GM1. In Simon and Roberta’s case, their son’s diagnosis came at two months.

Neither couple had ever heard of the disease before – they could not even pronounce it. Joseph and Stacy eventually learned they are both carriers.

“I remember that before our son was diagnosed, I would not let my parents give him chocolate. As soon as he was diagnosed, I was the one to give him Nutella. I wanted him to have tasted it,” Stacy says.

Roberta nods: “I remember saying our baby will always sleep in his cot. But since the diagnosis, he sleeps between us and we each hold one hand.

“Time is too precious.”

The two mothers show videos of their babies, laughing and crying. These are rare moments for babies with GM1 who rarely utter sounds.

“I filmed him crying because he never did so. But he was probably crying because he was in pain,” Stacy says.

The parents talk about all the suffering they have witnessed, all the while feeling helpless.

“Our son’s most frequented place is hospital. His life has been about physiotherapy, injections and medicines. He is constantly having his blood drawn. The other day, the doctor had to turn him upside down and draw blood from his neck,” Roberta says.

“We used to spend our nights worried he might suffocate… eventually that’s what happened.”- Parent of baby born with rare genetic disorder

Stacy recalls: “I remember one time they could not draw more blood from our son’s arms and the only alternative was to take it from the vein on his forehead but, fortunately, during the last attempt the doctor managed to draw blood from his tiny hands.

“These babies go through a lot. Through too much.”

Joseph says his son spent the last month of his life in hospital, in a coma. He was one year and four months old. He had stopped breathing: GM1 babies suffer a lot from secretions that can cause them to choke.

“We used to spend our nights worried he might suffocate… eventually that’s what happened.”

Their son’s airways were blocked. Doctors asked the parents how far they should go to save him. The parents wanted the doctors to try everything.

After intubation, he spent a month in a coma.

“He went into hospital weighing 10.6 kilogrammes and, by the end, he weighed 4.5,” Joseph says, as Stacy adds: “When I washed him, all I could feel was bones.”

Then she smiles at a recollection: “I’ll never forget this moment. He was in a coma and I went close to him to hug him when he suddenly touched my head... it was so special... I will always carry that moment with me.”

“As I said, we are not the monsters people are trying to make us out to be,” her husband says, tears in his eyes.

“We are not after testing to have a perfect blue-eyed, blonde baby. We just don’t want to have to see another child suffer the way our first did… Father’s Day is the hardest day for me.”

While other fathers were at restaurants, Joseph headed out to the cemetery to lay flowers on his son’s grave.

Simon adds: “Here we are not talking about testing for a disability or a birth defect. This is not a disability. It’s a death sentence.”

The couples want people to understand them. They want to be able to test an embryo for GM1 before implantation.

As for polar body testing, being proposed by the Nationalist Party as an alternative, Joseph says it’s good to have the option, but pre-implantation testing has a very much higher rate of accuracy.

Both couples say they would not risk opting for polar body testing knowing how terrible it is to have GM1 – the stakes are just too high.

Parents cannot pick and choose

Marchita Mangiafico, whose 35-year-old son Sebastian has cerebral palsy, is concerned that the law will pave the way for other conditions to be added to the list. 

Cerebral palsy is a group of disorders affecting movement and muscle tone or posture.

“None of us want to see our children go through pain but, in life, you cannot pick and choose. You have to take life as it is, accept it and find the support,” she says.

Mangiafico says there was not enough public consultation before the parliamentary debate started.

As the parent of a child who has a severe condition and needs help with all basic needs, she is worried that the debate is focusing on the rights of parents and forgetting about the children.

“This is not about the rights of parents. Parents have their wants and needs. Here we’re talking about the rights of the children to a family and good quality of life,” she said.

What are the main points of the IVF bill?

Under proposed amendments to the IVF law:

• the age of eligibility for the treatment will rise to 45 years from 42.
• More IVF cycles will be offered free of charge, the treatment will be extended to those who already have a child, and egg donations and transfer of embryos from other countries will be facilitated.
• But most controversially, the government wants to allow doctors to perform genetic tests on IVF embryos before they are planted into the womb. They will be on the lookout for a number of relatively rare, genetic conditions.
• So far, nine of these rare conditions have been listed: Finnish Nephrotic Syndrome, GM1, Huntington’s Disease, Joubert Syndrome, Maple Syrup Urine Syndrome, Nemaline Myopathy, Spinal Muscular Atrophy, Tay-Sachs Disease and Walker-Warburg Syndrome.

This pre-implantation testing would allow couples – who have had children before – to benefit from IVF and carry out pre-genetic testing. The proposed amendments have received mixed reactions.

The NGO Doctors for Choice has lauded them, saying they will help couples get accessible and safe medical treatment which they have a right to.

However, 13 other NGOs and organisations have hit out at the proposed law, arguing that what the government is proposing is “nothing short of eugenics”.

The Church said genetic testing on embryos is “discriminatory” and would serve to undermine human life.

Most members of the council of the Commission for the Rights of Persons with Disability objected to embryo genetic testing, days after the same commission publicly said it backed it as the right of parents to choose not to pass on their genetic diseases.