Gillingham mum's desperation as 'mystery condition' disables her daughter
Published: 05:00, 30 November 2022
Updated: 13:59, 30 November 2022
A mum says she has come to a halt after a mystery condition left her daughter disabled – and nobody knows why.
Gillingham mum Rachael Swadling's child Hallie Spree is unable to hold her own weight or walk and has the muscle of a one-year-old but doctors have been left baffled and unable to diagnose her.
Medics treating the youngster say they are doing their best to support the family and Hallie will now undergo more detailed investigations and see a specialist clinical genetics team to try to identify the root cause of her problems.
Three-and-a-half-year-old Hallie was born on March 19, 2019, and underwent an operation after she was born, at 32 weeks, to remedy an artery defect.
Rachael, 25, was told her daughter was born with two valves on one side of her heart.
She says the Evelina London Children's Hospital was supposed to book a scan when Hallie was six months old, but this was never organised.
She has previously had a number of issues getting appointments at the hospital and has had six face-to-face ones cancelled.
She said: "When I actually turned up at the hospital they didn't even know why I was there.
"I just felt really uneasy. After the scan the lady there said everything was good but I said how can it be good – she's got two valves on one side of her heart. That can't be good.
"Her consultant had a look at the scan and said that for some reason the valve must have formed together by itself."
When she was pregnant, Rachael was told her baby may have to have open heart surgery, but says she was left confused as to why the matter was dismissed, she felt, so quickly.
Hallie was also hospitalised when she was 10 months old after she stopped breathing for 65 seconds.
"She was put on oxygen and kept in for two nights and they put it down to asthma," she said. "Again, I was really uneasy – surely an infant shouldn't stop breathing just because of asthma?"
When Hallie was one-and-a-half, Rachael managed to get an appointment at Snapdragons in Strood, a children and young people’s health and wellbeing centre.
As soon as the consultant looked at her daughter, he said that she had hypertonia, and she now uses a hydrotherapy pool there to ease her muscles.
She said: "They explained it was about low muscle tone and her muscles aren't building up along with her age.
"Now, she's three years old and has still got the muscle of a one-year-old so she can't actually hold her own weight, she can't walk, whereas she used to be able to walk."
When she was much younger, Hallie was able to pull up to stand, and used to be able to walk holding her mum's hand.
To this day, Rachael still has not had a diagnosis for exactly what is happening to her daughter, as hypertonia is a symptom of something else.
"For us to have just that and the fact that she has 'asthma' but they can't diagnose her because she's under five years old is really challenging for me as a mum," she said.
"I'm trying to support her and trying to push forward with medical care for her, but without understanding what she has, I'm at a halt.
"I feel like they have brushed my daughter under the carpet," she said.
"Everyone explained to me how Evelina is such a good hospital and they take such good care of you, but I don't feel like they have at all.
"I feel like they have completely ignored my intuition as a mother of trying to explain to them that she has other issues and it's not just a one-sided thing, and I don't feel like they're trying to diagnose her – I've had no answers back.
"They've given me no 'this is what it could be' – I've had nothing and seen no course of action.
"Day-to-day she struggles. I'm her arms and her legs. Without me she wouldn't be able to do much – she can't get into her own bed, can't get into the bath by herself, I have to lift her in and out.
"She is unfortunately deemed disabled which I never thought I'd say that about my child and I'd never wish it upon anybody, but she became disabled – it's not like she was born with it.
"Yes she had acid reflux but she ate normally, had bottles normally, she hit her milestones maybe a bit slower than normal but we got there anyway, that's why I had no concern.
"It's just been so long-winded – I understand that the NHS are in absolute turmoil at the moment and with Covid as well I understand, but children are meant to be priority and they're meant to be our future so why is no one rushing to help her?"
A spokesman for Evelina London Children’s Hospital said: “Since Hallie’s review by our specialist children’s neurology team, numerous investigations have been undertaken.
"Hallie will now undergo more detailed investigations and see a specialist clinical genetics team to try to identify the root cause of her problems.
“We have made referrals to relevant paediatric specialists and therapists to provide the best management for Hallie’s current symptoms resulting from her disability.
"We will also work with her local paediatric services to help support Hallie’s family though this very difficult time.”
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Charlotte Phillips