Well it’s been a journey, I have two absolutely amazing children (not that I am biased at all). One little boy, Oscar (O), who is 6 and one baby daughter who is 2 and a gorgeous dog called Rufus. Oh, and a husband who is pretty good too (well, I would say he is my rock in this).

So my story starts nearly 5 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 I still stare at him and I’m still completely smitten).

The first few months started normally, we had sleepless nights and hundreds of amazing cuddles.

We had issues with milk, O had a dairy allergy which meant I would need to give up dairy as I was breastfeeding, but he was meeting all his milestones. When it came to the 6-month mark, I noticed O 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.” So, O was 9 months when he sat, 12 months when he crawled, and we never really had the first word until the last few weeks we have had the word bye (absolutely amazing) I knew from about 9 months that our son was different, like the saying goes, mom is always right, well on this I knew it.

We met with doctors, physio, speech and language, and other professionals, and had a diagnosis – Delayed development including hypertonia, meaning O 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 and just before his 3rd birthday he started taking his first few steps. I cannot tell you the feeling as parents we had as we were told from some professionals that there was no guarantee he will walk, but it was then I knew he would be an absolute inspiration to me.

I know children change you, we were told when I was pregnant that children change you, but having a child that’s different changed me in a way I cannot explain. 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, a very rare one, a genetic mutation in one of O’s genes called creatine transporter deficiency (CTD) which means O makes creatine, but it doesn’t get transported to the brain, and we all need creatine in the brain to function. The lack of creatine is causing the symptoms O has, such as delayed speech, autistic traits, delayed development, low muscle tone, intellectual delay, along with a few others. Some people said to us, “you must be so upset to have this diagnosis”, but we are thankful to know our son’s diagnosis as I know some parents/ carer’s do not get to know. For us, having a diagnosis has really helped. Yes, it’s rare and there is no cure, but we have an answer. We are thankful to genome sequencing testing as without this we may never have known It just shows how far science has come.

O is on medication, there is no proven cure for CTD, so we continue with all the therapies. The hardest thing to have a child with a rare genetic diagnosis 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 so many hospital appointments, check-ups, etc, for O which can be very difficult for him and for us. The care O requires has changed our lives, family is the most important thing to me, and I want to ensure we can do everything we possibly can for him. The saying ‘it’s good to be different’ has always been my motto, my husband always rolled his eyes at me when I use to say it before we had children, now he just looks at me and smiles.

Where we are now is in a good place, we will always remain positive, O is in amazing specialist school and thriving. The amount of appointments for O has become the norm for us, and we have settled into our lives. I’m not going to lie, 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.

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. It should not be the children or adults who have disabilities that should try and fit to what is classed as normal socially, everyone should be accepted. Even if people are different compared to whatever is classed as normal, it’s a good thing, it’s really good to be different.

Interested in learning more about CTD?

Visit our Creatine Transporter Deficiency page.