A Kilmarnock mum has opened her heart after her daughter was diagnosed with a ‘devastating’ rare condition that may leave her unable to walk or talk.
Emily Stuart was told days before Christmas that 10-month-old Pheobe, now 22 months, had Angelman Syndrome.
The mum of two has now launched a fundraising campaign to help her daughter have intensive therapy session and to purchase specialist equipment.
The 34-year-old first noticed something was wrong when her daughter wasn’t meeting the usual milestones.
Phoebe was born naturally at full term following a green pathway pregnancy.
However, quite quickly it became apparent to Emily that Phoebe was having some difficulties feeding but was assured this would settle.
Phoebe’s feeding difficulties continued over the weeks and she was admitted to hospital where she was fitted with an NG tube. She was later given some reflux medication and sent home.
Fast forward a few months on, Phoebe managed to maintain her weight rather than lose but in the months that followed, Emily noticed that Phoebe wasn’t meeting the usual milestones , had a lack of head control, could not roll over and was unable to sit up.
Emily, 34, from Kilmarnock, said: “I always think a mother’s instinct is so important so I continued to put across my concerns to the doctors. Her weight gain improved but her physical skills did not my concerns grew.
“At this point, there were some conversations around cerebral palsy but an MRI wasn’t possible until 18 months so it was decided that Phoebe would have some blood testing done to check for some genetic conditions linked to her feeding difficulties.
“One week before Christmas, and a day I will never forget, I was given the devastating news that Phoebe had a rare genetic condition called Angelman Syndrome.”
Emily continued: “I just always had a gut feeling having my little boy, that there was something else going on. But they kept reassuring me that it was just down to a slow start because she struggled to gain weight, and that they didn’t think there was anything more to it.
“We were in and out of the hospital with the feeding issue, but they just put it down to the severe reflux, and then she was really, really sweaty all the time, which was a concern.
When Emily was given the “devastating news”, all she could think about was if Phoebe would walk, talk and how this would affect her life expectancy.
She shared: “When I received a call from the consultant I didn’t really understood what Angelman Syndrome was.
“My first question was ‘will she walk’ and he said it was ‘unlikely’ and then I asked “will she talk” and the answer was also unlikely. My next question was ‘will it affect her life expectancy’ but he said no, people with this syndrome still got a full life expectancy but this can be limited due to 95 per cent of people with Angelman suffering from severe epilepsy.
“It was a two-week wait before I would go and see the consultant in person and he said not to Google anything before it. But as soon as I came off the phone, I started Googling this and it’s pretty harsh how the syndrome is described.”
Emily also went on social media and managed to find some families in America, Canada, Finland and England who had children with the same syndrome and that was “the most insightful thing” for her.
She said: “One of the families I came across was from down south, the dad Jason, who is a founder of The Little Angels charity, has been a saviour and I will be forever grateful for his ongoing support especially in those first few days after diagnosis. He was able to give me more important information than anyone else.”
Angelman Syndrome symptoms include severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures and sleep problems.
Emily said that a lot was mentioned about things Phoebe would not be able to do but very little was said about the possibilities of what she could achieve.
Emily decided to focus on positive things and started researching the therapies and specialist equipment available that could help Phoebe have the best chance to live as independently as possible , reaching her full potential.
Phoebe is now under the care of a consultant, occupational therapist, speech and language specialist, orthotics and optometrist.
She also attends NHS physiotherapy, as well as travels weekly to Blantyre for private physio and to Lanark for hydrotherapy which totalling £600 per month.
Emily said: “NHS alone is not able to offer anywhere near the amount of therapy and some of the equipment she would need. At present Phoebe would only be entitled to 8 hours of physio a year.
“NHS hydrotherapy in our area is also suspended for months and even kids like Phoebe are not generally offered this service until they are 5-years-old.
“I’m now travelling to Lanark for her hydrotherapy, which is £70 a week, and I’m going to Blantyre for her physiotherapist privately, which is £60 a week.
“Of course, this support comes at a cost that I as a solo parent to Phoebe and my 3-year-old son cannot solely afford.”
Emily is seeing improvements since Phoebe started attending these therapies for her physical and cognitive development.
She said: “Phoebe is now able to maintain good head control, can roll from left to right, coordinate her arms and hands allowing her to play and help develop her self-feeding. She recently surprised us all with being able to sit herself unaided for short periods.
“We are also seeing great improvements with her weight bearing in her legs following use of her standing frame. She uses an X-panda seat for feeding and sitting, allowing her to be upright for longer periods and well supported to help prevent scoliosis.”
Emily is now looking into treatments and equipment that NHS doesn’t fund, including spinal stimulation, an E-stim machine, communication devices, a safety bed which will cost over £7,000, specialist car seat and walking aids.
She launched a fundraiser for her daughter through the children’s charity Tree of Hope and aims to raise £20,000.
Emily said: “I also found an intensive therapy centre which has clinics across the world but they have recently opened their first UK based in London.
“NAPA Centre offers a three week intensive course of treatments for your child to try and learn a skill such as walking or standing. I did just apply for that and it would cost £7,500 for three weeks treatment alone, not including accommodation and travel.
“For now we’ve set our target at £20,000 but I know we would probably need to raise more if we were looking at doing that.”
Emily is grateful for all the donations they have received thus far and is thankful to people who continue donating to Angelman Syndrome charities to help with clinical trials.
She said: “Phoebe has the most infectious smile and has the ability to brighten up any room. She teaches us daily how to appreciate the simple things in life and brings us so much joy.
“Thank you to everyone who has supported us so far and helped raise awareness for Angelman Syndrome.”
To help Phoebe get the treatments and equipment she needs, please visit here.
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