‘We don’t know how long she’s got’ - Schoolgirl with genetic disorder raising awareness
Picture: AT SOCIETY
The family of a 12-year-old diagnosed with a genetic disorder when she was just a tot are helping to raise awareness as part of an annual fundraiser which marks its 25th anniversary this week.
Brooke Sprawling was diagnosed with the genetic disorder ataxia-telangiectasia (A-T) at the age of two, but the route to diagnosis was not easy.
Brooke’s mum Justine repeatedly visited her GP, worried her daughter was not meeting crucial infant milestones, such as sitting and walking. And when she did start to walk, she dragged her left leg along the floor.
Mrs Sprawling, 46, from Swanton Morley, near Dereham, said: “Although she had been born a month early, she was healthy at birth.
“But I was worried about the delay in Brooke’s development and kept going back to the GP, who told me every baby is different. My GP recommended baby gym classes to help with her balance and core.
“But we just knew there was something not right. She also had coughs and colds all the time.”
Still concerned that her daughter was significantly delayed in her development, compared to her experience with her son, Caleb, who is now 19, she agreed to an x-ray of her hips in December 2009, to see if they were causing mobility problems. Still nothing was detected.
During this time, Mrs Sprawling’s husband Stefan, 45, was serving in Afghanistan with the RAF reserves. On his return home, in January 2010, he could see Brooke’s mobility had not progressed.
The couple then booked a private consultation in February 2010.
“The doctor observed Brooke playing with Caleb,” Mrs Sprawling said.
“When my husband mentioned Brooke had blood shot eyes, the doctor said he thought it was A-T. He told us not to look it up online and booked her in for blood tests and a brain scan.
“Stefan did look up the disorder and contacted the AT society. He spoke to Kay who was so supportive and talked us through it all and the diagnosis process.
“Brooke’s results came back positive for A-T. When the paediatrician told us the news, to be honest we expected it.
“We knew that it was going to be hard work, but we were relieved we had a diagnosis.
“Now we knew that it wasn’t that she was slow or a bit behind others, she has A-T.”
A-T is a rare, progressive, neuro-degenerative inherited disease, which causes a delay getting messages from the brain. It affects the immune system, mobility and speech too.
Mrs Sprawling added: “At the time Brooke was diagnosed she was fully mobile. Now she can’t walk or stand up on her own. She has a walking frame and an electric wheelchair, which she started to rely on at the age of eight.
“Brooke gets tired easy and her speech is slurred. She finds it harder to process information. Eating is more difficult. She can feed herself using a special spoon and fork, but she is very messy and gets tired eating. We thicken drinks with a powder because liquid can easily go into her lungs.”
A-T affects the immune system and the youngster also needs to have fortnightly immunoglobin injections and antibiotics three times a week.
Mrs Sprawling said: “I’m needle phobic, so I had counselling for six weeks before learning how to do Brooke’s injections.
“It was nerve-wracking to start with, putting needles in my daughter, but I have learnt how to do it.”
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Educationally Brooke’s learning is delayed, but she is thriving at her special needs school, where she has one-to-one support.
“At school she has physiotherapy, rebound therapy, she swims two to three times a week and uses a hydrotherapy pool.
“She can take part in PE and be much more independent.
“At home she loves to do arts and crafts, baking cakes, colouring, playing with baby dolls, teddies, and Lego.
“The most worrying aspect for me is knowing how long she’s got. A lot of A-T patients don’t live past their mid-twenties. You never know what may happen. I worry about pneumonia and cancer, as she is susceptible to some cancers. We just try to keep her healthy.”
What is ataxia-telangiectasia?
A-T is a rare, progressive, neuro-degenerative inherited disease.
It is caused by a genetic mutation in the ATM gene, affecting the production of ATM protein. This causes cells in the part of the brain involved in coordinating movements (the cerebellum) to deteriorate.
Over time, A-T causes severe disability and affects a variety of body systems. It can cause increasing difficulty in controlling and co-ordinating movements, reduces the efficiency of the immune system, increases the risk of developing cancers, causes prominent blood vessels in or around the eyes and increases sensitivity to radiation.
The first signs of the condition usually appear when children are toddlers and start walking. Children can become unsteady while walking, have difficulty moving their eyes and develop speech and swallowing problems.
By the age of 10 most children need to use a wheelchair. There is no cure for this genetic disorder and no way to slow the progression.
It is life limiting and adults with A-T will usually not live past their mid-twenties due to respiratory failure or cancer.
Jeans for Genes day marks 25th anniversary of fundraiser
Jeans for Genes Day raises money for Genetic Disorders UK, the charity that aims to change the world for children with genetic disorders.
This year, its 25th, it takes place between Monday, September 14, to Sunday, September 20, and invites everyone to wear their jeans to work or school and make a donation.
Funds raised will go to the vital care and support children diagnosed with genetic disorders need.
It is not too late to sign up for your free fundraising pack, which can be downloaded from www.jeansforgenesday.org.
By raising money on Jeans for Genes Day charities such as the Ataxia Telangiectasia (ATS) Society, which provides support for families affected by ataxia-telangiectasia (A-T), will be helped.
The Ataxia Telangiectasia Society needs your help to fund their New Family Support Project – in particular, the staff costs associated with supporting families whose child has recently been diagnosed with A-T.
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