Irish mother whose child died from Leigh syndrome welcomes breakthrough

A mother who lost her baby daughter to Leigh syndrome has welcomed news of a baby being born with a new technique using three genetic parents to eradicate the condition.

"I think that it is fantastic that parents out there now have the opportunity to move forward and have healthy children," Irish woman Fiona Rogers told RTE's Morning Ireland.

When asked if she would be interested in this technique if considering a future pregnancy, she said “absolutely”.

“When you’re told that your child has this diagnosis one of the first statements that is made is that your chances of having another child (with the condition) are anything from 25 per cent up, that’s massive for a parent.

“Some people are just not prepared to take that risk. For me I probably would have availed of the treatment if I had not already had the twins.”

New Scientist reported yesterday that a child was born conceived from an egg containing nuclear DNA from his mother and father, and mitochondrial DNA from a “second” mother — an unknown female donor.

The aim was to replace defective mitochondrial DNA (mtDNA) that may have condemned him to Leigh syndrome, a fatal disorder affecting the developing nervous system.

Mitochondrial DNA is housed in the tiny rod-like “batteries” in cells that supply energy, and is passed down through the generations by mothers.

Ms Rogers lost her daughter Katie Rose to Leigh Syndrome at the age of two years and four months. The family was living in Canada when Katie Rose was born, following her diagnosis they came home to live in Co Donegal.

She gave the back ground to her daughter’s diagnosis: “Kate Rose was born on August 21st, 2012 – she was a big baby, 9lb 13ozs, very healthy didn’t have any ‘typical’ illnesses, colds or bugs or anything like that.

“She was really healthy, a good eater. She developed normally up until the 12 month mark, she met all of her milestones and she was very eager to learn and play and all of these things and very alert.

“As time went on, like every parent, we waited for her to take her first steps, they never came. As the months went on — 14, 15, 16 months we kept being reassured by doctors that this was ok and all within the normal range.

“At about the 15 to 16 month mark we started to become quite concerned that there was something more there, something was wrong. She began to regress a little bit, losing her actions like clapping hands and her eyes — it was a like a light just went off in her eyes, that’s the only way I can explain it.

“So we took her to the children’s hospital in Vancouver and she was admitted. They made it pretty clear to us that day that there was something pretty severe wrong and mitochrondrial disease was mentioned to us by a couple of young nurses.

“We had never heard of this, they did tell us this is not what you would want the outcome to be. She had a series of tests done over the next five days and the MRI was the big one, it was the last one, it put the last piece in place it was with that that we were given the diagnosis of Leigh syndrome which is a specific form of mitochondrial disease.

“The first question we asked was what do we do? What’s the treatment, what’s the cure? The response we got, was one we could never been prepared for, was that there wasn’t one. That sadly we were going to lose Katie.

“There was no timeline. We asked how long? Nothing was definite. It could be a couple of months, it could be a couple of years. It was definite that the prognosis wasn’t good. Childhood death was mentioned.

“Katie died when she was almost 2 years and four months old, which was months after we got the diagnosis.

“The twins were just two weeks old when Katie was diagnosed. When the doctor told us that Katie had Leigh syndrome they kept mentioning that it was a genetic condition — we looked over at the twins, newborn babies, it just dawned on us that’s what they’re trying to say. That there’s a chance they could have it as well.

“They’re two and a half now, we just found out a couple of weeks ago that thankfully, they have low enough levels so as not to be affected by the disease. Unfortunately it doesn’t end there, because for them, the girls, they now pose the risk of passing on this to their children in the future.”

When asked about the new development, Ms Rogers said: “It’s a very welcome technique for me personally, I know there is a lot of debate on this in terms of ethical grounds but I think it’s very easy for people from the outside looking in to have the moral high ground.

“If you live this, if you’ve lost a child, you tell that to the people looking at their child suffering every day, having multiple seizures every single day. In pain, knowing that there’s nothing you can do and waiting for the inevitable to happen.

“There’s no kind of fairytale ending, there’s no miracle here that’s going to happen and cure these children.

“But is it ethical to bring more children into the world that are going to suffer this way? Certainly in my opinion that’s not ethical at all.”