“Sweet William” – Jessica

Hi, my name is Jessica and my son William, who just turned 5, has Creatine Transporter Deficiency (CTD). William was born in April 2011 and as first time parents, my husband Wayne and I were very excited! For the first few months he was healthy, feeding well, gaining weight, and had no obvious problems. At his six month check-up, the nurse noticed he wasn’t bearing weight on his legs and wasn’t able to hold up his head. His weight began to plateau and for the next 6 months we did physiotherapy and tried desperately to increase his weight but every fortnight there was very little difference. As a first time mum, I found it very hard and quickly lost my self-confidence. Then we noticed his speech wasn’t developing and I became so stressed about his “failure to thrive”, my own health began to suffer.

I needed some help, so I took him to a Paediatrician who told me I wasn’t giving William enough variety of food and that although he was delayed, he would eventually catch up on his milestones. I was so angry and upset because we were trying so hard and I was in tears most nights due to William’s poor eating. I knew there had to be something more to it. Luckily I am very persistent and sought a second opinion from our family doctor. Then began months of tests and assessments. We were initially told William was showing strong signs of Autism and the Psychologist recommended another Paediatrician. I came home overwhelmed and in tears. Wayne and I began to prepare ourselves for a difficult time ahead.

The new Paediatrician was wonderful and sent us off for more tests. A few months later William was diagnosed with CTD. We were told there was not much known about the disorder and they didn’t know how William would progress. They mentioned intellectual impairment, attention deficit, speech language impairment and seizures. We walked out of that appointment shocked, overwhelmed, and scared about the future. Genetic testing confirmed I was also a carrier. I was devastated.

The thought of seizures frightened the hell out of me. I was scared to leave him alone and every time he made any kind of strange movement I was anxious it might be the start of a seizure. So far he has had possibly two absence seizures where his behaviour and emotional state was so out of character afterwards but we can’t be sure.

As we slowly came to terms with his diagnosis I thought the worst. Would he ever walk? Talk? Be independent? Make friends? I didn’t want to expect too much from him to avoid disappointment. As I watched other people’s young children progress rapidly around me, I felt embarrassed and alone because William was falling further and further behind. I am so grateful for the online Creatine Deficiency Support Group and a local group for parents of children with special needs that I attend fortnightly during school terms. They helped give me the strength to manage my negative thoughts and to appreciate every positive moment.

William on his Hopper Ball

At 3 ½ William began to walk and since then his development has taken off. He was so excited and proud of himself he wanted to go walking outside every day. He began to babble, use sign language and say a few words. On these daily walks around the neighbourhood William became fascinated with car number (licence) plates. From these he learnt all the letters of the alphabet and single digit numbers and has been obsessed with them ever since. We couldn’t believe this was even possible.

We enthusiastically let him follow his interest with wall charts, magnets, flash cards, books, and anything else with letters and numbers on them. William is now 5 and knows all the upper and lower case letters of the alphabet and can recognise and count numbers up to 100. Never in our wildest dreams did we ever think this was possible.

William started school this year and despite my intense anxieties, he has adapted well. The other kids in his class just love him! They always try to help him – in fact they compete for his attention. The problem is that they smother him with affection, trying to kiss and cuddle him to a point where he is constantly overwhelmed. The teachers are trying to teach him to put his hand up and stay “Stop” but he just doesn’t get it. He barely speaks a word at school except to me. At home he is quite verbal and is just starting to say 3 word sentences such as “I want cuddle”. He was very proud when he correctly identified all his “Golden” sight words a few weeks ago.

William’s Golden Words

Although we have many challenges, William has brought us amazing joy and changed our lives for the better. He is very affectionate and happy most of the time. He loves giving us cuddles and kisses. He has a beautiful soul and a zest for life. He has never thrown a real tantrum or shown any aggression. He is one of the bravest and tolerant children I have ever come across. He rarely gets upset by anything except crowds or when another child is upset. We thank our lucky stars he has such a great temperament.

My message for this post is to never give up hope or underestimate what your child (or you) can achieve. When you are first told about your child’s diagnosis, you feel like your world is falling apart and the future is so uncertain. But despite the challenges, your child will continually surprise you with what they can do, however small that achievement is. When you look back you’ll be amazed at how far they’ve come. Since William was diagnosed, I have also learnt than I am much more patient, resilient and stronger than I ever thought. William gives me strength, courage and immense happiness and I wouldn’t change him for the world.