Scots mum raising awareness of rare genetic condition after premature birth of daughter

A Scots mum is raising awareness of a rare genetic condition her premature daughter was diagnosed with, as well as cash for medical treatment.

Demi Carrie, 23, gave birth to Ada-Marie when she was 30-weeks on May 1, 2022, and she was rushed straight to the neonatal intensive care unit (NICU) in Victoria Hospital, Kirkcaldy.

You are reading: Scots mum raising awareness of rare genetic condition after premature birth of daughter

While the first few days of her life went relatively well, little Ada-Marie was soon diagnosed with meningitis and sent for further tests when doctors became concerned about her condition.

Parents Demi and Leon Robb, 21, were informed their daughter was one of four in Fife to have Prader-Willi syndrome, which causes a range of physical symptoms, learning difficulties and behavioural challenges. The condition is the same one Katie Price’s son Harvery suffers from.

As well as the condition, Ada-Marie has plagiocephaly – a disorder affecting her skull and making one side of her head flat.

As the NHS can’t offer further treatment, Demi, from Lochgelly, is fundraising to pay for private helmet treatment in Glasgow that will be around £2595.

Demi, Ada-Marie and Leon
Demi, Ada-Marie and Leon
Ada-Marie in hospital with dad Leon
Ada-Marie in hospital with dad Leon

Speaking to the Record, she said: “Ada-marie was born at 30-weeks on the 1st of May. I did have a quite a difficult a pregnancy with a lot of pain and bleeding. I went into labour about 9pm on the Saturday but I went to bed thinking it was just bad back pain.

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“I woke up around 3am and went for a shower as it was the only thing that helped when I was pregnant. I must have been in there for about four hours and then I phoned Leon and said we needed to go to hospital.

“She was born at 10.59am but I didn’t get to see her until 7pm. I woke up to my boyfriend at the side of my bed with a photo of her.

“The first few days she was fine but then she took really ill and had meningitis. She was immediately put on antibiotics so it cleared up but she was sent for more tests and we were told she had Prader-Willi syndrome.

Ada-Marie was born prematurely
Ada-Marie was born prematurely (Image: Supplied)
Demi with Ada-Marie
Demi with Ada-Marie

“Right now, all it is affecting is her ability to feed and at four-months she can’t hold her head up like most children her age can do. Her growth will be affected as well.

“In the future it will affect quite a lot. She will struggle with endless hunger and never know when she is full. There is also a very high possibility that she will develop learning difficulties and behavioural issues.

“She will also have a lack of sexual development which means she might not get her period until she is around 30. As of now, there is no cure and Ada needs quite a lot of specialist help.”

Due to the condition leaving her with weak muscles, Ada-Marie was unable to move her head much while she was in the NICU. This led to her being diagnosed with plagiocephaly as she mainly lay on one side of her head.

Ada-Marie spent 93 days in hospital
Ada-Marie spent 93 days in hospital (Image: Supplied)
Leon, Ada-Marie and Demi
Leon, Ada-Marie and Demi (Image: Supplied)

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She was discharged from hospital on July 31 but is still NG tube fed and uses breathing support for 12-hours during the night due to sleep apnea.

Demi continued: “One side of her head is now flat and it is affecting other things like the shape of her forehead and it has moved her ear downwards.

“The NHS doesn’t offer treatment so we want to try private helmet therapy and we can do this in Glasgow but it costs around £2595. Ada would need to wear the helmet for 23-hours a day, for three to six months.

“It seems to be our only option so we are going to try it.

“We are very aware that not a lot of people know of the condition Ada was born with and we want to raise awareness of it.

“As far as we have been told, there are only four other people in Fife with Ada-Marie’s condition. Despite all that, she has absolutely amazed every single one of us. Things we were told she would never do, she’s done.”

Ada-Marie has a consultation booked with Technology in Motion and Demi hopes to start her on helmet therapy as soon as possible. Donations to the fundraising page can be made by clicking here.

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