The parents of a little girl who has not gained weight due to a rare genetic syndrome now want to raise awareness after her diagnosis.
Ella Cooper stopped breathing after she was born on New Year’s Day 2019 at Tameside Hospital.
Her mother, Kay Garratt, 38, said she was “never very well” when she was a baby. Doctors initially believed she had a milk allergy.
But when ‘little’ Ella, now two, started losing weight and getting infections, her parents knew something else was wrong.
Ella is now being looked after by specialist doctors and physiotherapists
(Image: Kay Garratt)
After working with doctors and searching for answers, she was diagnosed with Wiedemann-Steiner syndrome at the age of 22 months.
Parents Kay and Scott from Guide Bridge in Ashton-under-Lyne, now want to help other parents and raise awareness of the disease.
“When Ella was born at Tameside Hospital, she ended up in the neonatal unit for three days when she stopped breathing,” Mother Kay told the Manchester Evening News.
“She’s never been that good as a kid since then.
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“At first the doctors at Tameside Hospital thought she had a cow protein allergy, so they went this route.
“But it was losing weight from week to week. It was tiny.”
Kay asked Ella to be referred to Manchester Royal Children’s Hospital, where she said specialists were “brilliant”.
The two-year-old’s parents want to draw attention to her condition
(Image: Kay Garratt)
She was in the hospital for the first year of her life, spending seven weeks there over Christmas and her first birthday.
“When she was in there, she went through every possible test,” added Kay.
“Because she was so weak and her immune system was so weak, she was isolated in her own room at the hospital.
Ella Cooper was diagnosed with Wiedemann-Steiner syndrome at the age of 22 months
(Image: Kay Garratt)
“She kept getting infections, but all the tests she’d done were back to normal. They couldn’t find anything.”
Ella was sent home and referred to genetics specialists in January 2020.
Doctors found she was not allergic to dairy products, and shortly before her second birthday, she was diagnosed with Wiedemann-Steiner syndrome.
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The genetic disorder can lead to developmental delays, unusual facial features, short stature, and a reduction in muscle tone.
It wasn’t genetically identified until 2012.
Kay said the main symptom to look out for is Ella’s difficulty gaining weight. She also struggles with talking and walking.
“Only about 1,000 are currently diagnosed,” she said.
Ella got a Kaye Walker to help her walk
(Image: Kay Garratt)
“Nobody had ever heard of it.”
Ella is now being looked after by a physiotherapist and specialist.
Kay added, “It took 22 months to get an answer about what was wrong, but the doctors were great.
“When she went to the hospital, she was 11 pounds and 9 ounces. She’s 18 and a half pounds now, so we’re getting there slowly.
“Two weeks ago her physical therapist gave her a Kaye Walker. I took her outside and she just went. She tries so hard and does it so well.
“She’s such a happy little girl, all she did is smile.
“I just want to sensitize people who don’t know anything about this syndrome. If I can only help one person, I’ll be happy.
“It was terrible for us not to know.”
Ella’s parents started a donation page to raise money for the Wiedemann Steiner Syndrome Foundation. You can donate Here.
