Baby diagnosed with rare condition just after being born as parents 'terrified'

05 June 2024 , 07:34

535     0

Baby Zander was born with a rare condition which saw him undergo a 'terrifying' surgery (Image: Edinburgh Live)

A heartbroken mum has told how she "blamed" herself after her son was diagnosed with a rare condition just minutes after he was born.

Christina Kuczerepa, 38, said she felt "completely alone" when given the devastating news that her newborn had a rare skull condition. Doctors had previously told her during a pregnancy scan that little Zander had an unusual head shape, but that they would be in touch if they had any concerns.

But when Zander was born four weeks prematurely in 2021, Christina and her partner Alexander were told he had metopic craniosynostosis – and would need a "terrifying" operation on his skull. Christina said: "To be honest, we didn't know anything about this until we had Zander. We felt so in the dark. When we had our growth scan, they told us he had an unusual head shape. They said they would get back to us if there were any concerns, and no one ever did so we didn't think too much of it. Then Zander was born."

In normal cases, when babies are born with several 'plates' of bone, the sutures gradually join as they get older. But in cases of metopic craniosynostosis, the infant's skull is fused together before birth.

Christina and partner Alexander were told the tot needed skull surgery (Edinburgh Live)

Christine explained: "Their bones, in Zander's case it was his forehead bones, were fused together. We were sort of told he might need an operation, but it was weeks before we got a letter. We were told he would get an operation between nine and 12 months old, but it ended up being when he was 16 months old. It was so isolating.

Pregnant Stacey Solomon brands herself an 'old fogy' over NYE plans with Joe

"Zander was born during Covid as well so everything was shut, we weren't seeing family and friends and we just didn't know if we were coming or going. We were facing Zander having this major operation, and didn't know how it was going to affect him long term."

Christina and Alexander were already desperately worried about Zander but the pair said they were terrified when they realised what was involved in the operation. They said: "We were told they were going to cut from ear to ear. That they were going to take his forehead and put the skin back. It was so overwhelming to hear about what was going to happen to my little baby. It was so scary. Such a terrifying way to word it."

"I was very upset, and distressed. I went through a lot of guilt, I blamed myself because I was the one that carried him. I felt like I was the one that gave him this condition. He's shown signs of autism, and one surgeon suggested the conditions might be linked and that he's seen it a lot.

"I used to get really upset, crying to my husband and blaming myself. He would tell me it's not my fault, and so would everybody else. When you're the one that carried them, you do just blame yourself. I still do, even though everyone tells me not to."

In cases of metopic craniosynostosis, the infant's skull is fused together before birth (Getty Images/Image Source)

Despite Zander's surgery being a success, Christina still describes the day as "terrifying". She added: "We went in and they told us about the little power drills they were going to use. I was so on edge, and I felt like 'why are you telling me this?' Now I understand why they had to tell us, but it was so difficult. We went down to theatre about 9.15am. We didn't hear anything until 4.30pm, when they called to tell us the surgery was going well."

"We went back up at 6.30pm, and had to wait to see him. It was awful, he had all these monitors and tubes and everything attached to him and we had to leave him. He got his own room the next day. His eyes were all swelled up, and he wasn't talking or anything at the time so we couldn't even communicate with him."

The couple joined a support group which helps families, and now hope to help spread awareness on the condition. Christina said: "I just want other parents to know they're not alone. We felt like we were the only ones, we knew nothing about the condition and felt so lost. There is support out there, it's just by chance that we found out about Cranio Ribbons but more parents should know about it. Being on the other side now, although we're still worrying about his future, it's not as scary as it might seem."

The "vast majority" of children with metopic craniosynostosis have a good outlook, according to the NHS. They say: "The outlook for children with metopic craniosynostosis is good with the vast majority growing up to lead a normal life, working and raising a family, although it will vary depending on any other medical conditions present."

Christina says Zander is now in good health, and while it's "scary" to think about the future, the family are maintaining a positive mindset. She added: "We're unsure at the minute if he might need more operations or not. He's getting yearly checks. I know a lot of people from the Cranio Ribbons group that are still getting checks in their teens. So it's something that has to be kept under monitor. Then we just take it from there."

Zahra Khaliq