Autistic Gosport boy with rare condition who was given weeks to live defies the odds and sees in his 21st birthday
REACHING 21 is a milestone in anyone’s life – but for Liam Derbyshire the occasion is something to really celebrate.
Liam, from Bay Road, Alverstoke, has defied doctors’ predictions as he was only given weeks to live when he was born.
Liam was born with congenital central hypoventilation syndrome (CCHS) – a disorder of the autonomic nervous system that affects breathing, also known as Ondine’s Curse.
It is so rare that it only affects about 1,000 people worldwide.
His syndrome brings about scores of challenges for his family – even seeing his parents needing to hook him up to a ventilator while he sleeps, otherwise he could die.
Not only that, Liam was born with Hirschsprung’s disease, which means he has damage to the nerve endings in his bowel. He also had cancer as a young child and has autism.
Liam has a long list of impairments, including communication difficulties.
His parents were originally told that he would live just six weeks – but he marked his 21st birthday on Monday.
Mum Kim, 60, said: ‘It is such a milestone to get to. Liam was actually in hospital not at all well a few weeks ago but thankfully he came out from that.
‘We have worked so hard to get him to reach these milestones – 16, 18 and 21 is the last big one that we hoped he would reach.’
People with CCHS who have been diagnosed as babies, and adequately ventilated throughout childhood, may reach the age of 20 to 30 years.
Liam keeps defying the odds – and his treatment has helped pave the way for other families as the doctors have been able to gain a greater understanding of his rare condition.
The family, mum Kim and dad Peter plus his three sisters Alexsis, Francesca and Danielle, plus brother Adam, held a low-key celebration at home on Monday.
Kim said: ‘Liam doesn’t like big celebrations but we had a cake made and ordered some special presents from Lego.’
Liam is a fan of Lego Technic – a challenging version of the kit made for experienced Lego builders that have complicated instructions and feature thousands of pieces. Liam had his heart set on a kit released on August 1.
Kim said: ‘It is extremely complicated. It is one of the things that he is able to deal with with his autism. The more complicated the better.’
Dad Peter, who is the maintenance manager at the Maritime Integration Centre at Portsdown Hill, thanked the NHS for helping the family over the past 21 years.
Peter, 63, said: ‘We try and take each day as it comes. We never expected him to reach 21. In the early days every time we went into a meeting we would be preparing for the worst.
‘It comes from having a great NHS team around us. People don’t realise how lucky they are to live here.
‘Southampton Hospital and Professor Gary Connett (the lead respiratory consultant) have been amazing.
‘I won’t let anybody knock our NHS. I have been around the world and seen other countries try to emulate it but they can’t.
‘Put simply - without them we would not be here as a family.’
As Liam has been shielding from coronavirus, and even spent six months in his own room in hospital, his siblings have not seen him since March.
‘His shielding ended on August 1 and the family are looking forward to being reunited once again.
Sister Alexsis said: ‘Liam has had an awful year with lots of ups and downs and it is nice to get everyone to help him celebrate.’
They now hope that he will be able to return to the special needs learning unit St Vincent College in September and continue to work towards gaining him more independence.
What is congenital central hypoventilation syndrome?
Congenital central hypoventilation syndrome causes a person to hypoventilate especially during sleep, resulting in a shortage of oxygen and a build up of carbon dioxide in the blood. Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). They can also have tumours, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.
CCHS is caused by a variation in the PHOX2B gene.