My name is Jackie, and my son has SLC6A1. Here is our story.
I was so excited when I found out I was pregnant. My sister-in-law and my sister both got cancer at the same time and passed away within weeks of each other, shortly followed by my Uncle. It was a sad time, full of loss, so new life felt like some happiness. I was so careful during my pregnancy, eating all the right stuff, doing things by the book. When Michael was born, he was perfect, everyone told me what a beautiful baby he was. I worked right up until I had him, and no one can really prepare you for motherhood. I spent the first 12 weeks exhausted. He was permanently attached and didn’t want to be put down! I did all the mother and baby things, you know, massage, coffee groups, just to get to know other Mums and not feel so isolated. I remember we used to line the babies up in their car seats at the side of the hall so we could do our exercises. They all had those mobiles you attach to the handles that they can reach out to grab. I remember seeing all of the other babies reaching for them, laughing, engaging, all of them except for mine. That’s when I knew there was something different about Michael. Of course nobody believed me, all of the professionals told me “all babies develop at different rates, don’t worry, he’ll catch up” but he didn’t! I kept going back, begging someone to listen to me. Michael never played with toys, or crawled, or held a spoon or his bottle, he never watched tv, or pulled to stand or said “mumma” or “dada”. Finally at 15 months old they gave him a brain scan. That’s when they discovered ‘unidentified, bright objects’ in his white matter. They couldn’t tell me anything else, whether he would ever walk, talk or do anything for himself. He didn’t start walking until he was nearly three. It seems like he got stuck at about nine months old and has never progressed from there.
About four years ago we took part in genetic testing, that’s when we discovered that Michael had the SLC6A1 mutation. I never realised how hard it would get. Michael doesn’t have seizures. He is 16 now, he can’t talk, he’s hyperactive in that he never sits still, he doesn’t even sleep still. Although he can walk, he won’t walk long distances, and will often drop to the floor. He doesn’t watch tv, or go on the iPad or play with toys. He’s doubley incontinent, can’t wash or dress himself. He has Pica (eats inedible objects – in fact everything, and I mean everything goes in his mouth). He has no awareness of danger, he loves to climb, his favourite space is balancing on the banister over the stairs. He cannot be left for a minute, I have to follow him around the house, it’s not uncommon for me to do about 7 miles, just walking around our house with him. He’s started to self harm by scratching and digging the sides of his face, so everything gets covered in blood. He needs to be fed as he can’t feed himself. Sleeping is erratic, sometimes he sleeps through the night, sometimes he’s awake for 36-48 hours solid, constantly on the go. Sometimes he kicks, grabs and pulls my hair, taking huge clumps of it, but he’s not doing it in a malicious way, to him it’s fun, as he laughs when he does it. It’s so hard, he’s so vulnerable as well, he could never tell me, or show me if something happened, so I have to put a lot of trust into his school and respite service. He’s like a baby, but in a young man’s body. Having said how hard it is I love him SO much, he does know who I am, he looks at me with love, and I can make him laugh, and he does sometimes hold my hand, or pull me close to him. He still sits on my lap, even though he’s bigger than me! Sometimes when I look at him my heart feels like it will burst. I want to protect him and keep him safe forever because he won’t understand if I’m not around. Part of me is resigned to never knowing, and just taking each day as it comes, the other part hopes that there’ll be some research done and it will help Michael, and maybe, just maybe…… anyway, we all do what we can for our kids.