A Glasgow mum has raised thousands of pounds for her son who has a rare condition in the hope that he will walk 'one day'.
Nicola Carey, from the west end of the city, decided to look outside of the NHS for treatment for two-year-old Beau, who suffers from a condition that means he's unable to hold his head up, sit unaided, crawl or walk. Little Beau was born naturally a week early but hadn't shown any signs of Hirschsprung's disease and Shah-Waardenburg syndrome in the scans or check-ups.
Hirschsprung's disease is a rare condition that causes poo to become stuck in the bowels. Children who have Hirschsprung's disease are prone to a serious intestinal infection called enterocolitis which can be life-threatening.
Shah-Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in colouring (pigmentation) of the hair, skin, and eyes. Physical features affected by the condition remain with patients for life.
Read more: Boy rushed to Glasgow hospital after being hit by a car on city street
Shortly after giving birth, Nicola noticed that Beau didn't seem interested in feeding, leading to the new family quickly being referred to a paediatrician. He was taken to the neonatal unit where they began undertaking biopsies and placed him on a feeding tube.
Hirschsprung's disease runs in the family and they were given the devastating news their son has life-altering conditions that mean he's unable to feed, walk or hear.
Nicola, 36, told Glasgow Live: "When he was taken to neonatal, they started doing biopsies and Beau got an NG tube placed in order to feed him.
"His tummy became distended and he still wasn’t passing stools so they started doing bowel washouts to relieve the pain. From there Beau spent several weeks in neonatal and his dad and I got trained on how to do bowel washouts so we could get home.
"Once home we got regular visits from the community nurses and a nurse from the hospital to check on his washouts and help us. These seem to work for a couple of months but his bowel then started to reject the washouts and he stopped tolerating his feeds.
"He was admitted to hospital several more times before he was eventually diagnosed with Hirschsprung's disease and Shah-Waardenburg syndrome as he failed another hearing test and was showing signs of hypotonia (decreased muscle tone)."
At just 12 weeks old, Beau underwent an operation to give him a stoma (colostomy bag), but sadly suffered several complications and had to have more operations. The baby had to spend five months in the hospital but has since been 'doing well'.
Nicola added: "His condition means he has a stoma that needs 24-hour care, he has hypotonia so needs to do exercises every day to try and strengthen his muscles. He is unable to hold his head, sit unaided, crawl or walk. He is currently on a milk feeding machine for 18 hours a day and on several medicines to keep his levels safe.
"He recently had an MRI scan as I was concerned he still wasn’t able to hold his head and this didn’t seem to be part of his condition. The MRI showed the myelin coating from the spinal cord to his brain hadn’t fully developed and it’s just a waiting game to see if it does as there is nothing medically that can be done."
She added: "Due to Beau being born during lockdown the resources available were next to none. He got a few visits from the community physio, and occupational therapist.
"With his diagnosis being so rare there were no support groups or specialists in this condition and still isn’t much information on this."
The mum decided to start looking into intense physio programs and research online. She's come across a suitable place in Manchester that has agreed to create a program for Beau.
However, the three-week program costs £7,500 prompting Nicola to launch a fundraiser to help cover the cost.
She added: "As a mum, you want the best for your child and if it means trying this to give him the best chance at life and reaching his milestones I will do it if there is nothing medically that can be done. Since starting the fundraiser I've had an amazing response and am hoping to reach the target to get him into one of the programs.
"My main hope is to at least get him holding his head or sitting and then focus on the other things. I feel these programs will offer a wider variety of things and use of equipment that I can’t provide at home."
So far, over £2,750 has been raised to help the family. Any further donations can be made here.
READ NEXT -
Trucker 'sorry' for destroying East Kilbride house in drunken rage as he's jailed for 10 years
Man 'swindled £120k from Glasgow cancer nurse with brain injury then wed other woman'
Paisley man 'stabbed' and 'lost lots of blood' as 'screaming' locals watched on
Rangers fan banned from all UK matches after tossing flare at 5-year-old
M8 driver 'clocked doing 130mph on motorway after snorting cocaine'
