Miracle baby with ultra rare genetic disorder defies odds

By Filipa Gaspar and Amanda Keenan

A miracle baby has "amazed" medics by defying the odds after being diagnosed with an ultra-rare genetic condition - seen in only 25 people worldwide.

Lauren MacLaren, 25, was given the devastating news that her baby Mack had the rare condition MSL2 while she was pregnant.

The condition makes him only the second baby worldwide to be diagnosed with the condition while still in the womb.

Doctors warned the disorder could cause severe neurodevelopmental delays, coordination and feeding difficulties and fluid build-up on the brain, adding that they could not be certain he would survive birth.

Despite being warned that Mack was unlikely to ever live a normal life, Lauren says the nine-week-old has stunned medics by meeting all of his developmental milestones.

Lauren, from Cumbernauld, North Lanarkshire, Scotland, told how their 'wee fighter’ continues to make her and dad Gary proud by defying the odds.

She said: "He’s our little miracle - we are so proud of Mack.

"We were told that he would never live a full or healthy life and doctors didn’t even know if he would survive childbirth.

"It was horrendous as so little is known about the condition, it is incredibly rare."

Lauren explained how the couple decided to go ahead with the pregnancy - despite the warnings.

She said: "We wanted to give Mack every possible chance.

"I was told I could terminate the pregnancy, even at a late stage, but I just couldn’t do it.

"No matter what lay ahead, we wanted to keep him and give him a chance to fight.

“Amazingly, just before he was born, scans showed the fluid that had been building up on his brain had disappeared, which stunned the doctors.

"He really is our wee champion.”

The couple, who are also parents to two-year-old Darci, were first alerted to difficulties with the pregnancy after the 12-week scan.

After being told there was a chance Mack could have Down’s Syndrome, they were advised to have an amniocentesis test to check for chromosome problems.

Lauren explained: "Everything went smoothly with Darci, so I expected my second pregnancy to be the same and we had no reason to worry.

"The 12-week scan was all clear at first, but then we got a call back saying I had to go for blood tests.

"The results of these came back saying there was low chance of Down’s Syndrome, so we just thought everything was fine.”

But the alarm was raised by medics when the couple went for their next scan.

Lauren explained: "That’s when fluid was picked up on Mack’s brain and we were told the only way to have any certainty was to do the amniocentesis test.

"It was very worrying because it can cause miscarriage, but we thought if something serious was going on we had to know.”

The couple were given the heartbreaking news that Mack had MSL2, making him only the second baby worldwide to be diagnosed with the condition while still in the womb.

Lauren said: "Doctors told us they had no idea if Mack would survive."

She was told by medics that she could end the pregnancy at any time, but the couple refused and Lauren was induced at 37 weeks.

Mack was born on February 6 this year.

She added: "The delivery was planned so that all of the specialist doctors were on call.

"Mack was born with the umbilical cord around his neck and was taken straight to a specialist unit.

"I remember seeing him for the first time and just feeling so much love and pride because of what he’d gone through."

After a week in hospital, Mack made such good progress that Lauren and Gary were able to take him home and say that he’s now thriving.

Lauren added: "He’ll be very closely monitored with MRI scans, but everyone has been amazed by his progress.

"He’s such a happy wee baby and always has a smile on his face. He’s feeding well and everyone is confident he’s going to continue going from strength to strength.

"We still don’t know what the future will hold in terms of any developmental delays, but we are just overjoyed that he is doing so well.”

The couple are calling for better awareness of MSL2 and want more research to be carried out into the condition.

Lauren added: "There needs to be more education around it.

"So little is known and doctors were able to tell me very little apart from scant, bleak information that I could find myself online.

"There are so few people worldwide with it, but I’ve connected with other parents through an online support group.

"It’s been helpful to learn about their experiences and has given us a better understanding about what our son may face as he gets older.

"At points during my pregnancy I felt helpless and questioned if we were doing the right thing.

"I remember we went to see a genetic specialist and he just read out facts from a printed sheet that I’d already discovered while looking into the condition myself.

"There’s a real lack of awareness, including the emotional toll it takes on parents during pregnancy.

"Mack is our wee superstar.

"We just feel very blessed that we made the right choices and that he’s doing so well.”