“Our little angel on Earth” and her mum give hope at Christmas to others around the world who suffer from a rare genetic disorder
When Britt Armstrong watches her beaming 13-month-old daughter Isabella wiggle around her living room, the joy on the toddler’s face makes three years of unimaginable heartache worthwhile. The little girl and her mother both suffer from the effects of the extremely rare genetic disorder that led to the tragic death of Britt’s unborn first child, Zac. Her daughter almost died from the effects and, although doctors saved her, Isabella still needs 24-hour care.
Now, three years after losing Zac, 36-year-old Britt from South West London hopes her part in the latest research into the disorder osteopathia striata with cranial sclerosis, or OSCS – which
In 2005, Britt, from
Britt said: “That was just hell. It was a terrible decision to have to make. And we didn’t really know what the problem was, which made it much worse.”
However, St George’s Consultant Geneticist Dr Sahar Mansour had come to know Britt and came to believe she had OSCS, which is a form of a group of rare genetic disorders called sclerosing bone dysplasia. This was confirmed by a full skeletal x-ray, which showed bone striata and cranial sclerosis. Britt’s only outward signs of OSCS are a bigger-than-usual head and small ears, and she has no debilitating effects. Neither of her parents suffer from OSCS.
Britt said: “When I found out I had OSCS it was actually amazing. The relief was so intense. It’s a lot worse to know you have a genetic syndrome rather than to think what happened was just a biological freak. But at the same time it’s better to know that when you go into a pregnancy there’s the chance of it happening again rather than being told it’s a freak and will never happen again, and then it does. That would be hideous.”
Despite the relief of knowing she had OSCS, Britt and William, also now had the knowledge that if she fell pregnant again there was only a 50% chance the child would be healthy. Because OSCS is what is known as an X-linked genetic disorder, it affects boys much worse than it does girls. This is because girls have two X chromosomes, meaning if one is affected they have another to compensate. While a girl born with OSCS is likely to have treatable symptoms, Britt and William knew that if they had another boy there was a strong chance he could suffer as severe effects as Zac. So when Britt surprisingly fell pregnant again in 2007, their reaction was a mix of joy and terror.
Britt said: “When I found out, I just sat there for about two hours, alternating between giggling with happiness and crying in fear. We desperately wanted it be a girl to give it a better chance and I had a strong instinct it was a girl, but we were still very scared.”
The couple’s fears were relieved by a blood test at eight weeks that strongly indicated the baby was a girl. But they could still not be certain the baby would be born without problems. It was 22 weeks before a scan revealed the baby had a larger than usual head and a small jaw – symptoms of OSCS.
When baby Isabella was born, on November 1, 2007 at
The little girl still has a permanent tracheostomy attached, that her parents have learned to look after and change themselves. She also has a gastrostomy attached to feed her, as she has problems swallowing. She is prone to chest infections too, especially in winter, and has been in and out of hospital. Despite these problems, she is a happy, sociable child with a huge, charming smile. And her parents hope that, in a few years, she will no longer need any of the current treatment, allowing her to live as normally as most other children.
Britt, now a full-time carer, said: “The only thing I’ve ever really wanted was a child and it’s the thing in my life that has been the biggest struggle. It might sound strange, but now we have our gorgeous daughter we wouldn’t change anything that’s happened. She’s the apple of her dad’s eye and we couldn’t have asked for a lovelier little girl.”
In April, and with Britt and Sahar’s help, Professor Stephen Robertson of the Department of Paediatrics at Dunedin School of Medicine, New Zealand, identified the gene that causes OSCS. This now means that pregnant women can have a test at 11 weeks that will tell them if their child has OSCS. And Britt is delighted she has been able to help other mothers avoid the pain of losing a child in the way that she and William did.
She said: “When I found out he’d found the gene I was just ecstatic. I was actually dancing around the living room. It feels incredible to know that other people might not have to go through what we did. When Isabella grows up she’ll be able to have this test, and that is amazing.”
Britt added: “Isabella came home just before Christmas last year but it went by in a blur of hospital visits and getting used to caring for her and her tracheostomy. We are so looking forward to this year and are trying to think of it as her first real Christmas. We no longer think of her as this fragile little bundle that we need to keep alive. She's our little angel on Earth, our gorgeous, funny little daughter, and we just couldn't imagine life without her. She is the ultimate Christmas present and we would go through all of it again – all the heartbreak and pain – if it meant we could have her.”
A new study into OSCS by Prof. Robertson, with research assistance from Dr Mansour of
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