Wanstead mum urges support for son’s hospice on Rare Disease Day

28 Feb Wanstead mum urges support for son’s hospice on Rare Disease Day

A mother from Wanstead whose son has one of the rarest conditions in the world is urging the public to support Haven House Children’s Hospice as part of Rare Disease Day on 28 February.

Janie Torrance’s 13-year-old son, Dylan, has Partial Triplication 15, a chromosome mutation so rare it hasn’t been given a name.
There have only been 18 known diagnoses worldwide and Dylan is thought to be the only person to have this specific defect.

Whilst little is known about the condition, one thing is certain – his life will be shortened.

Janie said: “Despite a normal pregnancy, I knew there was something wrong soon after Dylan was born. He would not feed, remained floppy and was uninterested. As a baby, he was different to his brother.

“It wasn’t until Dylan was three when I received the diagnosis of Partial Triplication 15. Up until then we were really in the dark and I was doing a lot of research trying to work out the problem.

“Over the years the doctors have slowly built up a bit of understanding, but there are still a lot of things we don’t know about Partial Triplication 15.”

Caring for Dylan is a 24-7 job. He is unable to speak and also has Lennox Gastaut Syndrome, a severe form of epilepsy and uses a wheelchair.

In recent years, Dylan’s epilepsy has become progressively worse and is drug resistant.

Janie said: “With Dylan it can very worrying in terms of what the future holds. He’s changing all the time and sometimes it can be very challenging.

“He is set to try a new medication which hopefully can reduce the severity of his seizures. In a particularly bad period, he had 400 seizures in 13 hours; every one of these can be life-threatening.”

Dylan has been using Haven House since 2012. He comes to the hospice for physiotherapy and respite care which gives Janie vital breaks when she can do simple things such as work two days a week as a hairdresser and take her older son, Callum, 15, on days out.

For many years Janie has helped fundraise for Haven House and she took part in a charity bootcamp for the hospice with 50 other people in August.

Janie said: “Haven House is a lifeline to Dylan and my family and I really hope people can support the hospice as part of Rare Disease Day.

“Accessing physiotherapy at Haven House has made a huge difference to Dylan. He finds it hard to remain upright and physio helps him maintain his posture and mobility.

 

“I don’t think people are aware of rare diseases and actually some of them are not that rare; with knowledge at least you can start to build an understanding.

“I’m still trying to find out more answers, I don’t think it’s curable what he has. Our focus is really on symptom management and improving the balance of his medication for his epilepsy as the side effects and seizures make it hard for him to function.

“Despite daily challenges Dylan can still enjoy life, and on good days, he can laugh and smile. I’m positive about life. I look at Dylan and I think ‘how can I moan about my situation’ when my son goes through this every day? He’s so positive.’”

Eileen White, Director of Care at Haven House, said: “For children with rare and complex life-limiting conditions it can be very challenging for parents as often there is limited clinical knowledge about the condition and the child’s health can fluctuate rapidly.

“Through a range of services, we provide support to families like Dylan and Janie to help them through the most difficult circumstances imaginable.”

Please help us support families like Dylan and Janie by making a donation to Haven House at www.havenhouse.org.uk/donate-to-haven-house