A mother’s investigations on the internet led to her daughter being diagnosed with an extremely rare growth condition.
Georgina Horton-Jones, 35, was concerned when she saw her that her newborn daughter Isabella was not growing as fast as she should.
Despite doctors’ assurances that her daughter was in no danger and would catch up eventually, Ms Horton-Jones, a trainee bereavement counsellor of Haverfordwest, took to ‘Dr Google’ and stumbled across pictures of children with Russell-Silver syndrome.
After consulting with a charity, she was referred to a private hospital, where a geneticist confirmed that Isabella was one of the approximately one in 750,000 people who have the rare form of dwarfism.
She said: “It was daunting to realise just how rare the condition was – and how few specialists there were in the world who were capable of advising us on it, but to realise what we were facing lifted a weight off my shoulders.
“I knew that something wasn’t right, and to have that eventually confirmed felt like a vindication.”
Ms Horton-Jones’s pregnancy with Isabella was relatively straightforward until her unborn daughter stopped growing at 28 weeks.
She said: “Between 28 and 30 weeks her weight didn’t change from 5lb. I was terrified, but a scan confirmed that her circulation was fine, so that put me at ease. We agreed that I would be induced at 38 weeks.”
Ms Horton-Jones attended hospital as instructed by despite being induced, she did not go into labour as planned.
As the days wore on, doctors informed Ms Horton-Jones that she would need an emergency cesarean section. Isabella was delivered on May 25th 2008.
Ms Horton-Jones, who also has Cameron, now 17, Catryn, 12, and Caitlyn, 10, said: “Isabella didn’t cry when she came out. After a while she let out a little yelp, but that was that.
“When I saw her wrapped up on the neo-natal ward, I thought she was the tiniest thing I’d ever seen. I wanted to feed her, but if I’d had held her to my breast, I would have smothered her.
“It was very concerning, but again I was told that there was nothing to worry about – that all of her scans had come back as normal, and she would develop in her own time.”
But in the following months, Isabella did not grow as quickly as her mother expected.
Ms Horton-Jones said: “I tried to find a babygro for her, but even the smallest ones didn’t fit. I noticed that I wasn’t having to buy bigger clothes for her as the months went by. If it had been my first child, I wouldn’t have worried, but because I’d had children, I knew in my heart that something wasn’t quite right.”
She began attending appointments with a paediatrician at Withybush General Hospital every six months.
Isabella, now 6, did not sit up until she was 10 months old and it was another three years before she started talking.
After she expressed concerns to the pediatrician, Ms Horton-Jones was told that Isabella could have Stickler syndrome, a hereditary condition which affects growth.
She said: “I immediately went home and looked the condition up. None of the symptoms matched. I was certain that she didn’t have it.
“But as I was searching around I found a picture of a little boy with Russell-Silver syndrome. I immediately thought, ‘that’s Izzy’.
“I showed the picture to my mother and she asked when I had taken it. She thought it was Isabella, they looked so similar – the big forehead, the lowset ears, the triangular face.”
Ms Horton-Jones took her suspicions to an endocrinologist at the University of Wales Hospital in Cardiff, but after deliberation, medical opinion was divided.
She said: “Five doctors agreed my daughter had Russell-Silver syndrome, and five did not. I was becoming worried.
“Isabella was due to start school and I still didn’t know what we faced. She looked so small compared to the others in her class. I didn’t want her to get injured in boisterous play. I wanted to know exactly what challenges Isabella was facing, and how I might be able to help her.”
She contacted the charity the Child Growth Foundation, who recommended a specialist at London’s private Portland Hospital – one of only three specialists in Russell-Silver worldwide.
She said: “The doctor at the private hospital took careful measurements and reviewed pictures of Isabella as she had grown up. He then referred us to a geneticist. Around a third of patients with Russell-Silver are diagnosed through genetic testing.
“Sure enough, signs in her chromosomes confirmed that she had Russell-Silver.
“I felt a huge weight lift off my shoulders. I had been right to have been so determined. Now my focus could be about the future – how I could plan and arrange things to make things easier for Isabella, who we knew would have the condition for life.”
Ms Horton-Jones has fitted out her home with equipment, such as ramps and booster seats, to make life for her daughter easier.
She said: “There are two other children in Wales which we know who have it. It affects growth, speech, mobility. She can’t run or jump. It’s difficult to get her to feed, and she can only eat certain things because she can’t chew.
“Other than that, she’s normal. She just smaller.
“Russell-Silver is not a life-limiting condition. Adults with the syndrome live full lives – they drive and have jobs.She’ll only get to about 4ft6in at her tallest, but she’s now on a growth hormone. Last year she grew 11cm – 6cm more than in previous years.”
Ms Horton-Jones has now become an enthusiastic supporter and fundraiser for the Child Growth Foundation, the charity which supported her in her efforts to get a positive diagnosis. Earlier this year, she braved a fear of heights to take part in a skydive.
She said: The Child Growth Foundation have been wonderful with me. They’ve connected us with other families and it’s nice for Izzy to know there are other children like her. She loves going to conventions and interacting with them.
“Every day we tell her she’s special.
“She’s very cheeky, but she’s as good as gold. She tidies up when I ask her to and she doesn’t like shouting and noise. Her brother and sisters are protective over her.
“She has the most infectious laugh I’ve ever heard, and she lights up any room she’s in. She’s very funny and the most caring little girl I know.”
For more information on the Child Growth Foundation, visit www.childgrowthfoundation.org.
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