My son has a rare genetic condition shared with only 350 people in the world - Kelly shares their story for Rare Diseases Day

Kelly, husband Mike and their two children – plus dog Rufus – are a typical, happy family from Rugby.

However, six-year-old son Oscar has a rare genetic condition shared with only 350 people in the world.

To mark Rare Diseases Day (held each year on the last day of February), Kelly shares their story in a bid to raise awareness and understanding.

My story starts just over six years ago. After a dramatic birth with my son, we took him home from hospital and could not stop staring at him. He really is gorgeous and I was completely smitten with him (this has not changed).

The first few months started normally, we had sleepless nights and hundreds of amazing cuddles. When it came to the six-month mark, I noticed Oscar still wasn't sitting independently compared to other babies. Speaking to professionals they said ‘don't worry it will come, they all develop at different levels’.

Oscar was nine months when he sat, 12 months when he crawled and we never really had the first word. I knew from about nine months that our son was different. Like the saying goes, ‘mom is always right’ and on this I knew it.

We had an amazing health visitor who came to see me and Oscar and then everything started to happen from there.

We met with doctors, physios, speech and language and other professionals as Oscar was finding it difficult to learn to walk as he had very flexible joints. We tried everything, all the exercises, even the tight shorts and, of course, all the encouragement in the world.

As always, Oscar wanted to do it when he wanted to and just before his third birthday started taking his first few steps. I cannot tell you the feeling we had as parents as we were told from some professionals that there was no guarantee he would walk.

It was then I knew he would be an absolute inspiration to me. He has changed my outlook on life for the better and I will be forever grateful to him for that.

In January 2023, after numerous tests, we finally had a diagnosis. It was a genetic mutation in one of Oscar's genes called creatine transporter deficiency (CTD) which means he makes creatine but it does not get transported to the brain and we all need creatine in the brain to function.

The lack of creatine is causing the symptoms Oscar has such as delayed speech, autistic traits, delayed development, low muscle tone and intellectual delay.

We are thankful to genome sequencing testing as without this we may never have known, it just shows how far science has come. The care we have had from UHCW and Birmingham Children’s Hospital has been brilliant, I couldn’t fault anything with the NHS.

There is no proven cure for CTD so we continue with all the therapies. The hardest thing is there are not many parents in the same boat as you and this is one of the reasons I want to tell our story, so other parents do not feel how we felt as it can be a lonely place.

We have been told by medical professionals that there is most certainly a higher number of people with CTD but it goes undiagnosed as there is not enough testing. I’m hoping that raising awareness will lead to more research and, maybe one day, a cure.

The care Oscar requires has changed our lives with so many appointments and check-ups. I have reduced my hours in the career I love but family is the most important thing to me and I want to ensure we can do everything we possibly can for him.

I want to raise awareness around CTD and children with disabilities and make it more socially acceptable. When my little angel makes a noise that is not classed as normal, I don’t want others to stare or walk away.

If a child communicates in a different way such as stroking your arm, it’s not because they are strange. It’s just a different way of communication and I hope one day this will become socially normal.

Where we are now is in a good place, Oscar is in amazing specialist school and thriving.

We have settled into our lives, It's very hard at times and challenging, but it's our life and I really wouldn't have it any other way. We are very grateful for the life we live.