Vincent's Story

Hi my name is Vincent and I’d like to tell you something about me. I live with my Mummy, Daddy and big brother Charlie (3) in Victoria, Australia.

I was born on May 16, 2017. I was 5lb 6oz at birth which was a normal delivery. My mum thought her tummy had stopped growing near the end and also that she didn’t think I was moving quite as much as I should have.

I failed 2 hearing tests in my first week of life. My next hearing test showed moderate to severe hearing loss. I also had fluid in my ears and had grommets put in at 12 months. My hearing then tested as mild to moderate.

I had lot of trouble feeding from my Mum but did a lot better with a bottle. I have never drank more than 100ml!

My Mummy & Daddy thought there may have been something wrong because I never really looked at anyone, just seemed to look past. I still hadn’t smiled by 3 months and after my 3 months check up with the paediatrician the ball started rolling to find out what might be wrong.

After all the testing that I had to undertake they came up with these results:

• I had a mircroarray test which was negative for any syndrome
• Mild to moderate hearing loss
• Sacral dimple
• Un-descended testes
• Low set ears …..that don’t quite look the same
• Wide set nipples
• Inguinal hernia (op at 3 weeks to correct)
• Horsehoe kidney
• Umbilical hernia (fixed itself)
• Low muscle tone
• Hyper-mobility
• Fontanelle closed before 3 months of age
• MRI showed extensive supra-tentorial white matter volume loss at 3-1/2 months.
• I am vision impaired but we don’t know to what extent yet.
• My feet are different to each other.

I think I had rolled from my tummy to my back a few times at 3 months but that was about it until I started Vojta therapy at 14 months. By then I still wasn’t able to lift my head up at all while doing tummy time but after a week of the therapy it all changed. After about 3 weeks of doing the therapy I started rolling and by 17 months I could sit myself up.I stood up by holding on furniture when I turned 2. I am 27months old and I can walk along a furniture my Mummy & Daddy are very proud.

I’d say my physical stage is better then my mental development. I can make sound like ma ma, I can clap hands but don’t wave or point. My fine motor skills aren’t to bad. I still play with babies rattles I know how to use cause and effects toys but still practicing on how to build blocks up. I don’t hold my bottle, don’t finger feed, don’t feed myself with spoon even though I am capable of it I don’t do it.

I use to get bronchiolitis often and still fighting with quite a few ear infections often which sets me back a bit each time. Just about to get my second se of grommets done.

I am doing very well with my solids, I am getting longer but I haven’t put any weight on for about 15 months now. I am at about the 1 percentile. Everyone is thinking about putting me on Growth Hormone which we’ll give it a try in next few months.

Nobody could diagnose my condition until the results of my genome test showed ZTTK syndrome and everything makes sense now.