Family’s heartbreak over Kyran’s struggle
A MUM has spoken of her family’s heartbreaking struggle after her son was diagnosed with an incurable genetic disorder when he was just eight years old.
County Durham teenager Kyran Richmond, now 16, was told he had juvenile Batten Disease, a neurodegenerative disorder, in March 2011.
Children with the disease are born seemingly healthy, but later develop epilepsy and lose their sight, speech, mental and motor abilities.
The life expectancy for people with juvenile Batten disease is late teens/early twenties.
Debbie, Kyran’s mum, from Chilton, in County Durham, said: “The diagnosis was awful, a big shock. No cure, no treatment, there is some research, but it won’t be in Kyran’s lifetime.
“It felt like someone had torn my world in two. You never expect to be told that about your child. We couldn’t stop crying. We were told not to Google it.
“So much has happened in the last nine years. Looking back I think why has he got it, what have we done? It’s heart-breaking.
Kyran was so young and innocent with not a care in the world. It is so mentally exhausting.
“The acceptance of the condition is hard. We’ve struggled with depression and phases where you are trying to accept it, then in denial. We thought in the beginning what if we took him to America, would there be a cure?
“You try to work and keep a normal life throughout. It’s hard for Cameron as if he hasn’t seen Kyran for a few weeks, he notices the difference in him.
“We are lucky we have a good support network; we raise awareness and we have a fundraising group to make memories for Kyran. We have lots of friends helping in our area.”
Kyran also has tremors caused by childhood Parkinson’s as well as memory loss due to Alzheimer’s. He is registered blind and uses a wheelchair.
After Kyran’s diagnosis, Debbie and husband Carl, 47, a steelplater, both tested positive for the CLN3 gene (responsible for Batten disease), which lies on chromosome 16. As Batten disease is an autosomal genetic disorder, both parents are unaffected carriers of the mutated gene and have a one-in-four chance of a child inheriting both faulty copies, therefore being diagnosed with Batten disease.
Their youngest son Hayden, 14, was tested shortly after Kyran’s diagnosis. He has inherited one copy of the gene and is unaffected. Cameron, 21, who is in the Navy, is healthy and hasn’t been tested.
For the strain Batten Disease Kyran has, there is no treatment and no ongoing research. Debbie adds: “We haven’t explained the outcome of the illness to Kyran.
“Doctors told us that his brain function would decline, so that he wouldn’t be aware of what is happening. We have issues with his behaviour. It comes from frustration and pent up anger.
“He used to lash out at school, but specialist nurses have guided the staff on how best to manage Kyran’s frustration and calm situations down.”
Kyran is now helping to raise awareness for children’s genetic disorders in support of the charity Gene Disorders UK.