ST Annes mum Julie Segev wants other families to know there can be light at the end of the tunnel for those affected by Fragile X syndrome.
Julie and husband Oren were left devastated when their son Daniel was diagnosed with the condition – the most common cause of inherited learning disability.
But over the years, they have learned to adapt and cope, and found out where and how to get help and information.
Friday is Fragile X Awareness Day, and Julie hopes she can help raise awareness, not only of the condition, but also help spread the message to other families they are not alone.
After receiving support from the Fragile X Society, dance teacher Julie has held many fund-raising events for the charity, which also carries out research into the genetic condition.
She says there have been many advancements and developments in the last five years – since her story was last featured in The Gazette.
She said: “I hope to get the message across to other families there can be dark times, but there can be great joy too.
“Things can be difficult, but there is light at the end of the tunnel. I am very proud of Danny and wouldn’t change him for the world.
“And I would also urge parents to never be afraid to ask for help. There is help out there and sometimes you might have to shout a bit louder, but you’re not alone.”
Daniel was diagnosed with Fragile X when he was three – his parents had noticed he was late developing, but had no idea what the cause was.
Boys affected by Fragile X have learning difficulties, ranging from mild to severe intellectual disability. Girls are often of normal intelligence, but up to a third have learning difficulties – which may range from mild to severe.
Common behavioural features include short attention span, impulsiveness, restlessness and over activity.
Those with Fragile X can show autistic-like features – a dislike of eye contact, difficulty relating to people, anxiety in social situations and insistence on familiar routines.
Julie said: “As Danny got older when he was at mainstream school, the gap between him and his peers widened, and his difficulties became more apparent.
“I took the very painful decision to move him to a special school – which was difficult as there are none that were suitable in Fylde. He has to travel to Great Arley in Thornton, which means about an hour-and-a-half journey each way – and he gets travel sick.
“But the school is great, they are so caring. He’s doing okay. Fragile X is often misunderstood. People don’t realise Danny can understand things and take them all on board, but often finds it difficult to express himself.
“He then gets frustrated and suffers from migraines and anxiety. He struggles to let people know what’s worrying him.
“He is now taking medication, which helps. It’s not a miracle cure, but it helps with his concentration.
“And he takes a natural sleep hormone, to help him get off to sleep at night, as well as seeing a child psychiatrist. So there are things which can help with Fragile X.”
Julie – who is an affected carrier of the Fragile X gene and did not start reading or writing herself until the age of nine, but is now fluent in five languages – has recently been taking part in a world-wide study about Fragile X and its affect on the family as a whole, as well as the child.
Anyone who would like to speak to Julie about the condition can call her on 07901 868009 or email firstname.lastname@example.org.
n The Fragile X Society website is www.fragilex.org.uk.