'My boy is an inspiration' - Rugby couple's son has rare genetic disease that affects only 350 people in the world

A Rugby mother instinctively knew her little boy was different before his first birthday.

Kelly’s son Oscar was born five years ago after a traumatic birth.

He was later diagnosed with a very rare genetic disorder called CTD, which stands for Creatine Transporter Deficiency which is mutations in the SLC6A8 gene. The disease affects just 350 people in the world.

Kelly, who asked us not to use her last name, said: “When it came to the six month mark, I noticed Oscar still wasn't sitting independently compared to other babies at baby classes and when speaking to professionals they said 'don't worry it will come, they all develop at different levels'.

“He was nine months when he sat, 12 months when he crawled and we have never really had the first word. I knew our son was different, like the saying goes 'mum is always right' well, on this I knew it.”

The mum paid tribute to her ‘amazing health visitor and Integrated Disability Service specialist teacher who helped with their long journey.

“We met with doctors, physio, speech and language and other professionals and had a diagnosis of delayed development including hypertonia meaning Oscar was finding it difficult to learn to walk as he had very flexible joints,” added Kelly.

"We tried everything; all the exercises, even the tight shorts which were supplied and of course all the encouragement in the world but as always Oscar wanted to do it.

"I cannot describe to you the feeling as parents the day we were told by professionals that there was no guarantee he would walk, but it was then I knew he would be an absolute inspiration to me.”

In January 2023 after numerous tests, Kelly and husband Mike’s son was diagnosed through genome sequencing testing at Birmingham Children's Hospital.

The genetic mutation causes symptoms including delayed speech/no speech, autistic traits, delayed development, long QT of the heart, low muscle tone and intellectual delay along with other elements.

Kelly, who has had to take a step back in her career in retail design sector to enable her to give her boy the extra support and care he needs, said although he’s on medication, there is no proven cure or treatment for CTD.

Oscar now attends a specialist school in Warwickshire and is ‘thriving’.

“The hardest thing to have a child with a rare genetic diagnosis is there are not many parents in the same boat and we want to support other parents out there and let them know they are not alone,” said Kelly.

“I want to show that with the correct support in place from an early age, children with additional needs can thrive.

“I am trying to change the thinking behind children with disabilities being viewed as different or strange and people giving you that look to ‘it’s good to be different'. I believe every child should have the opportunity to support and should all be treated the same.

"I definitely agree you always have to fight for your child with additional needs but it's not always a negative story.”

“Oscar has changed my outlook on life for the better and I will be forever grateful to him for that.”

Kelly is happy to be contacted on Instagram www.instagram.com/ctd_mom

Find out more about the condition by visiting https://creatineinfo.org/