My Daughter Is Free From This Terrible Disease

My Daughter Is Free From This Terrible Disease
Lucy Benyon

Her baby daughter Bridey is about to celebrate her first birthday, but proud mum Clare Hubble still can't believe she is actually here.

"Every time I look at her I feel truly blessed," says Clare, 40, who gave birth to Bridey after years of trying for a child.

Clare, who lives with her husband Russ, 50, in Leicestershire, is the carrier of an extremely rare genetic mutation called X-Linked Hydrocephalus, which is passed from mothers to sons.

Hydrocephalus causes excess fluid to build up on the skull which can lead to brain damage without treatment. However, the outcome for sufferers of X-Linked Hydrocephalus is very bleak, as this unusual strain results in severe mental and physical disabilities.

Clare only discovered she had the syndrome herself when she fell pregnant at 28 with her former partner Steve.

"I only realised I was pregnant when I was about 15 weeks gone," recalls Clare. "We were both so excited. It was a lovely time."

But just five weeks later, at her 20 week scan, Clare and Steve were given the devastating news that their baby had hydrocephalus and was unlikely to survive the pregnancy. If Clare did go full-term, she was told the baby would only live for months at the most, and would be born with severe disabilities.

"It was a terrible shock," says Clare, who decided not to continue with the pregnancy. Three weeks later, she gave birth to her baby, a boy.

"I made the decision not to see my son as I would have found that far too traumatic," she admits. "We didn't give him a name either, as somehow that would have made it too real."

Once she left hospital, Clare began researching the causes of hydrocephalus on the Internet, and she stumbled across the X-Linked syndrome which is very rare. Boys born to carriers have a 50 per cent chance of having the illness, whilst girls face the same odds of carrying the syndrome.

"Alarm bells began to ring as on my mother's side of the family, there aren't any boys. My mum is one of three girls and she had three girls herself. My grandmother was one of four girls too.

"I mentioned this to my consultant at the hospital where I gave birth and he agreed that I should be tested for X-Linked Hydrocephalus."

Clare was referred to a genetics clinic and after months of testing, it was confirmed that she did have the syndrome.

"I wasn't surprised, but it did put us off trying for another baby," she says.

Meanwhile her two sisters were also tested, but luckily they weren't carriers.

Clare says the stress of discovering she was the carrier of such a devastating genetic condition contributed to the break-up of her 10-year relationship with Steve.

But a year later, she met Russ, and together they now run a boat-building company. "We were living on neighbouring narrow boats and we just hit it off straightway," says Clare, who was honest with Russ about her genetic problems from the start.

The couple met and married within a year, and by the time Clare turned 30, they had stopped using contraception.

But after five years of marriage, Clare was still not pregnant. Worried, she went to her GP, and she and Russ were referred to hospital for tests, and were later told that they were suffering from unexplained infertility and should try IVF to give nature a helping hand.

Fortunately they were entitled to NHS funding, and we were told to pick a clinic for a referral. Clare did a lot of research but when she discovered that CARE Fertility Nottingham offered a treatment called Preimplantation Genetic Diagnosis (PGD) she knew that was where she had to go.

The process works by removing a cell from all viable embryos, and then testing the DNA to see if it carries any genetic mutations. Because Clare's condition is so rare, the clinic had to devise a new test for her.

Finally in August, 2012, she was able to begin IVF. Clare and Russ were thrilled when the clinic found that two of their embryos were clear from disease and viable for transfer.

One was implanted, whilst the other was frozen, and the couple were over the moon when they discovered Clare was pregnant. But at 10 weeks she miscarried and they were both devastated.

Six months later, she had the frozen embryo implanted but it failed to take, and the couple considered giving up on IVF. But their consultant was optimistic that Clare could get pregnant again, and in August, 2013, the couple decided to give IVF one last attempt before considering adoption.

This time there were three viable embryos, and one was implanted while the other two were frozen.

When Clare discovered she was pregnant, she didn't dare hope that she would this time go full-term.

But as her stomach swelled, she and Russ began to relax.

And Bridey, the child they thought they might never have, arrived by emergency caesarean, weighing 8lbs 15oz in April last year.

"She is a perfect, wonderful little girl in every way," says Clare proudly. "I am so incredibly grateful to the clinic. Thanks to the PGD treatment she is completely clear of my condition, and it won't be passed on."

At some stage in the future, she and Russ are hoping to use at least one more of their embryos.

"If we had another child that would be great," Clare says. "But for now, I am quite happy with Bridey. Knowing that she is happy and healthy is the best gift in the world."

For more information on Preimplantation Genetic Diagnosis, visit CARE Fertility on www.carefertility.com

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