Baby with bent bone dysplasia

Baby with bent bone dysplasia

The mother of a little boy born with a rare disfiguring condition says she has no regrets about choosing not to have an abortion when given the opportunity while pregnant.

Two-year-old Louis Mathurin was born with bent bone dysplasia syndrome which causes maldevelopment all over his body, leading to breathing, feeding and mobility problems.

His mother Nina said: “When I first saw him I noticed his head was severely misshapen. My first reaction was that he looked like an alien.

“I felt instant love. I didn’t care in the slightest what he looked like – I just wanted him to be well. I felt a powerful sense of protectiveness from the very first moment.”

Ms Mathurin, 41, a business account manager from Hayes in Middlesex, conceived Louis through IVF after an ectopic pregnancy in 1999 left her unable to conceive naturally.

She said: “I knew I wanted children so to be told I might not be able to was extremely upsetting. When I fell pregnant through IVF on my first try in 2011, I was over the moon.”

Ms Mathurin’s pregnancy was to be marked by fatigue, sickness and anxiety.

She said: “The sickness during pregnancy was so bad that I couldn’t eat. I felt sick all the time and I couldn’t sleep. It was awful.

“At the 20 week scan they found that his bones were a bit short. I was sent up to a foetal care unit, where they did more detailed tests.

“They saw that he had a narrow chest, which triggered alarm bells. There was a definite air of concern. For the first time they talked about the possibility of him not surviving birth.

“No-one could give me definitive answers – what condition Louis had, whether he had a type of dwarfism, or whether he was just short.”

By her 24th week of pregnancy, Ms Mathurin was suffering acute anxiety and doctors had made the decision to offer her a termination on account of her unborn son’s apparent maldevelopment.

Ms Mathurin said: “They offered me a termination on medical grounds – but I didn’t really know on what basis I would be making the decision.

“ All sorts of questions went through my mind – what would I be giving up? What would I potentially be putting Louis through if I didn’t have a termination?

“After everything, I found myself decided on the fact that I couldn’t give up on him. The question for me was – is Louis going to suffer? Is he going to have a life of misery? If the answer was a definite ‘yes’, I would have terminated. But I couldn’t terminate on the basis that he wouldn’t be perfect.

“I got a second opinion, and the most conclusive observation was that Louis was going to be short. That was enough for me to decide – I wasn’t going to have an abortion on that basis alone.

“I was fiercely protective over him even though he hadn’t arrived yet. I wanted to do everything I could.”

Louis was born two months prematurely on November 18th 2011. The delivery room was filled with 15 medical staff as Ms Mathurin gave birth.

She said: “All I wanted to do was see my child. I heard a short cry when he came out, then silence, then another cry.

“A doctor explained Louis wasn’t breathing properly and needed to be taken away for urgent treatment. I felt numb – we didn’t know if he was going to make it.

“After two hours I was able to see him in the high-dependency ward. Louis looked very unusual. At a later scan they realised that his cranium had healed at the back but the top was open, leaving him with an odd-shaped head.

“I instantly felt a powerful love for him. I knew it was my responsibility to make sure he was well.”

Louis was to stay in hospital for seven months as doctors ascertained what condition he had. They eventually diagnosed bent bone dysplasia syndrome, a non-genetic, often fatal disorder of the skeleton which affects his whole body.

In his early months he would have a series of lifesaving operations, including the installation of a cranial shunt and feeding tube and two head expansions.

Ms Mathurin said: “Every bone in Louis’ body is malformed. It affects everything – from his mobility to his breathing.

“I don’t know of any other child in the country who has it. I believe there’s another family in Canada but I don’t think the child has the cranial-facial problems Louis has.”

Ms Mathurin attends appointments with Louis every three months for checks and is observant for any worrying changes.

She said: “I don’t know if Louis’ condition will damage his brain or is life-limiting, which is why it’s important that we enjoy every day together as much as we can. He’s been through so much in his life already.

“He’s the happiest child you can imagine. He’s very affectionate and sociable, and brings a lot of joy to my life.

“I don’t have any regrets about having him. Sometimes people don’t realise how different my life is now – going out without Louis takes a lot of planning. But I don’t regret having him for a moment. I knew I made the right decision not to have a termination.”

Ms Mathurin now volunteers at Great Ormond Street Hospital to support and advise families with children facing disabilities or major surgery.

She said: “When expectant parents are facing tough choices, what they usually hear are people – friends and family – telling them that they shouldn’t burden themselves with disabled children.

“But that’s not the way to look at life. You could have a perfectly healthy child and, heaven forbid, there could be illness or an accident.

“Would I have been comfortable knowing that I got rid of Louis without giving him a chance? No. That’s how I know I made the right choice.

“I encouraged two parents to let their children have tracheostomies. They were terrified, but showed them Louis and how, despite his challenges, he’s fine.

“Having a community of people around you makes that kind of journey a bit easier. It’s easier to talk to parents about the challenges than nurses.”

Ms Mathurin has found support from Great Ormond Street Hospital and Shooting Star respite services. To support Shooting Star visit www.shootingstarchase.org.uk.

More high resolution pictures are available on request. To discuss rates for using pictures and copy, contact news editor Tom Knight on 07815 004413 or tom@medavia.co.uk.

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