“I want Birmingham to know about my little boy’s rare disease” – Mum Kelly shares Oscar’s story for Rare Diseases Day
After years of searching for answers, experts at Birmingham Children's Hospital told Mum Kelly and Dad Mike that their five-year-old son Oscar has an extremely rare genetic disease called Creatine Transporter Deficiency (CTD).
This disorder means that creatine is not transported to the brain and muscles as normal.
Kelly shares their family's story to raise awareness this Rare Diseases Day (Thursday 29 February).
She said: "We knew something wasn't quite right when Oscar was a baby. He cried an awful lot and he was delayed in all of his milestones. He didn't sit until nine months old and didn't crawl till he was 12 months old, and there was no sign of a first word."
At around eight months, Oscar was referred to a paediatrician at his local hospital, where he received speech and language therapy and physiotherapy due to this delayed development.
Oscar was also sent for an MRI at our Children's Hospital when he was three years old to try and find the cause of his delayed development.
Oscar then underwent whole genome sequencing testing at the West Midlands Regional Genetics Laboratory based at Birmingham Women's Hospital. It is a new NHS service which involves reading through all of the letters in someone's genome.
Kelly said: "Nothing urgent came back from the MRI, so we were sent for genetic testing. We were really nervous waiting for our results. Eventually we got a call telling us to come into
the Children’s Hospital. We were in the waiting area for only a few minutes when we were called into a room full of doctors, we immediately knew something had been found. I hugged my little boy tightly, took a deep breath and sat down."
Kelly was told Oscar had CTD which is an extremely rare genetic disease. There is no cure, but there are treatments available.
Kelly said: "It might sound strange to say, but we were happy to hear the diagnosis. We finally had answers and we understood Oscar a little more."
After his diagnosis, Oscar attends the hospit
al for regular appointments with our metabolic team and for checkups at our Heart Investigations Unit, as Oscar's condition can cause heart issues. He also continued to receive physio, ENT, eye checks, speech and language therapy and attends a specialist school.
Kelly explained: "It was really great support for us, we were told that there was no guarantee Oscar would walk, but we cannot explain the emotions we felt when he took his first steps just before his third birthday. There are no words to express how Mike and I felt.
"Oscar does have a lot of very high sensory and physical needs. He is non-verbal and needs constant supervision, but he is the happiest boy on the planet. He loves everyone he meets and is happy all day long, and that is all a parent can ask for. He really is an inspiration to us and others who know him.
"I want to raise awareness about CTD and children with other disabilities. People sometimes assume Oscar is misbehaving because he makes a lot of noise or is on the go all the time and is never still but I want people to know that this is normal for Oscar and it's okay to ask us questions. Like I have always said, it's good to be different’
“It would mean the world to us to spread awareness, and help other parents in the same situation as us. Everyone at the hospital has been absolutely amazing, I can't fault a thing. The genetics team and the metabolic team have been so helpful.
"I remember our consultant talking us through everything after Oscar was diagnosed. She could see we were overwhelmed, so she let us take everything in and told us to come back with all of our questions. We really appreciated that and we know the team are on the other end of the phone should we need anything. That support has been life-changing for us and for Oscar."