Jacob

Jacob and his family came to the studio to talk about their experience of his rare disease.

“Jacob has something called X-linked Hypohidrotic Ectodermal Dysplasia. It affects his ectodermal layer which means he can’t sweat and so it is hard for him to regulate his body temperature. He overheats in the summer when it’s hot and in the winter, if it’s very cold, he can’t warm himself up as we would. It has also affected his teeth. He has four top teeth and three bottom teeth, most of which are misshapen and pointed. He wears a little denture on his top set to help him with eating. Having no pigment behind his retina means he wears sunglasses when he’s out and about because he is so sensitive to light. He also has eczema and so I can be putting creams on him up to five times a day.

“When Jacob was 18 months old, he still had no teeth, so I took him to the dentist; she was concerned enough to refer us to Alder Hey hospital. Whilst waiting for the appointment, I did my own research and found children with similar symptoms and facial features. I went to see the locum GP but he sort of laughed at me really and thought I was being silly. I went back a week later and saw my own GP and she agreed that there were signs and referred him for genetic testing. Both the team at Alder Hey and genetic tests confirmed the diagnosis. Unusually, his condition is a random first mutation because I am not a carrier”.

“Sometimes he gets upset because if it’s too cold he can’t go outside to play at school and the same is also true if it is very warm. His friends are very accepting as to them he is just Jacob. I worry about the future and how it will be when he starts at high school. That’s when he’s going to realise he is different. It is so important that people are aware that not everybody is the same and that you can be different but still lead a normal life.”

“On a day to day basis he must have his creams put on and needs to wear his sunglasses. Eating can be hard work and so he is a bit slower. His food has to be chopped up smaller and quite soft really. We try and encourage him to be as active as possible but have to watch to make sure he isn’t getting too hot. He has a cooling jacket that he wears when playing and often on a hot day we wet his clothing. In the winter you just layer him up, t-shirts, jumpers, coats, gloves, hats, two or three pairs of gloves sometimes. We always need to be alert to his changing temperature.”