Our son’s condition is so rare we can’t get any support for him
THE parents of a little boy who is one of two people in the world with a rare chromosome condition are begging for help to get him specialist support.
Three-year-old Blair Jennings suffers from conditions including a cleft palate, epilepsy, sleep apnoea, hip dysplasia, glaucoma and hearing difficulties.
He also suffers from a brain condition called periventricular leukomalacia (PVL) and Pierre Robin syndrome, which causes facial malformations.
He has a duplication of five chromosomes, something so rare that only one other person is known to share Blair’s set.
His PVL will eventually become cerebral palsy but without that diagnosis, he cannot access the Cerebral Palsy Integrated Pathway Scotland (CPIPS) and their clinics.
Pamela, a former nursery nurse, and chartered surveyor Adam, from Bishopbriggs, Glasgow, said Blair has been refused physiotherapy and speech therapy which he urgently needs.
He received physio when he was younger but his parents said he has been denied it for at least 18 months.
Pamela, 31, said: “It seems that because Blair couldn’t jump up and run about after physio, we were discharged.
“We were left feeling really low that physio had given up on him.”
In desperation, the couple have enrolled their son at Craighalbert Centre in Cumbernauld, which provides educational and therapy services for children affected by neurological conditions.
It will cost the family about £2000 a year for him to go there just one morning a week.
Pamela said: “Because Blair doesn’t fit into one neat little tick box, he is being denied all the support he should be getting.
“Blair is desperate to be walking and talking but there is no support available for him and no co-ordinated care between the hospital and community.
“If children have autism or cerebral palsy, there is a framework to support them but for children like Blair, no one wants to take responsibility.
“They are happy to let Blair get on with it.”
Pamela told how Blair’s cleft palate wasn’t diagnosed until five weeks after his birth at Glasgow’s Princess Royal Maternity.
The condition led to him being deprived of proper oxygen and nutrition during that time.
Pamela said: “He wasn’t feeding properly and his breathing sounded so laboured.
“When we saw the consultant, he said we could have been there in different circumstances. We were lucky he was still with us.”
Blair, who is being monitored for heart problems, has had to endure three eye surgeries, cleft surgery, gromit insertions in his ears, a testicular operation and a tonsillectomy.
Blair, who is a big brother to Toby, faces another three operations on his eyes, ears and around his hip joints this year.
Labour’s health spokeswoman Monica Lennon said Pamela and Adam were “hitting a wall” in their attempts to get support.
She added: “It shows the system is not working for this child.
“Blair’s family are left having to fight for him and pay for private therapies. That is scandalous.”
Greater Glasgow and Clyde Health Board said: “He is reviewed regularly by a range of specialist staff from acute paediatrics and community services.
“Blair’s mum had not indicated that she was unhappy with his care and as soon as we were made aware of this, Blair’s consultant neurologist immediately rang his mum and a meeting with the family to address their concerns was offered.
“This meeting will include clinical colleagues from Community Child Health.
“A speech and language therapy plan was agreed and he receives active physiotherapy.”
Blair is desperate to walk and talk but there is no support available MUM PAMELA