To read a lot more about James, check out our new site www.just-james.org
James is 2 years old.
James at the park
Like any 2 year old he keeps us awake at night, tires us out, runs us ragged and makes us laugh. But unlike most 2 year olds James has a rare genetic disorder called (deep breath for the full title) Chromosome 18q Distal Deletion Syndrome, or 18q- for short. Or to be precise, 18q-23. you can read more about what this precisely means on my other pages but here I thought I’d share what it is actually like to live with the disorder.
18q- has affected James in lots of ways, some much more serious than others:
- He has learning difficulties
- He has narrow ear canals, so they get infected more, and he is hard of hearing
- He has Nystagmus, and is registered partially sighted
- He has respiratory problems
- His growth has slowed down
- He has reflux
- He has behavioural difficulties
- His throat, soft palette, and hard palette aren’t formed correctly
- His jaw is too small
- His fingers are tapered
So what’s it like to live with? It’s surprisingly normal, most of time. 18q- affects people in different ways, but nearly all have varying degrees of learning, vision, and hearing problems. James is registered partially sighted, and is going through the process of being registered partially deaf. In practice, this means that James can’t visually concentrate on a particular object for too long, he physically can’t control the movement of his eyes. He also can’t hear anything below a conversational volume. The hearing has impacted on his communication and we are learning sign language to bring him on in this area. He will also under go some speech therapy as his communication skills aren’t the best. Which leads him to get very frustrated, and he can be quite the little monster!
James
So far, at 2 years old, he has had over 30 hospital appts and I have lost count of the clinics and consultants we have met along the way.
James and Heather
