White-Sutton syndrome or POGZ disorder

The story of Cristiane

This is Mateus, now is 10 years old, an only child. Until 6 months of age he developed normally. He was born with cephalic perimeter of 33cm but up to 2 years remained 1 or 2 cm below the minimum line. I’ve already done 2 resonances of skull and X-rays without abnormalities. Normal karyotype, Array CGh with loss in chromosome 10q25.1 and gain in 16q23.3, identical to that of me, the mother, normal, now 40 years old. Exoma with diagnosis of white-sutton syndrome (failure in pogz) in March 2016.

At 8 months he had hypotonia and hypothyroidism was discovered at 13 months. With 10 days of medication he crawled, clapped his hands, waved and sat alone. At 18 months walked. At the age of 2 he began phonoaudiology because he did not say anything. The doctors don´t say that He has autism. At age 3 he started babbling. Today he does not make many phonemes, has little vocabulary. He has aggressive behavior sometimes and others are loving and friendly. Has good social relationship. He writes his name and he is good at maths but with some dificults sometimes.

It has high hypermetropia, discovered at 5 years. It has a small global developmental delay and is very resistant to pain, where it rarely cries. Small hearing loss (B curve in both ears).
Mateus has adequate weight for age and height a little below the ideal line.

Mateus is a smiled boy, happy, has difficult to accept order and listen the “not” Word. He had delay speak but He is very communicative and ask “why” about everything. Luckly, is very healthy. My main concern is about intellectual development and agressive behavior, because it´s a little slow.

His long-term memory is very good and He had some difficult when the things are out of his control, because He is very anxious.

We are from Rio de Janeiro, Brazil. We Love to travel around the world and Mateus Love to play with his car toys and watch cartoons. Here is to difficult to have profesionals to assist my son at the school. There are laws to put a profesional supporting him but sometimes this doesn´t work. 
I think he was the 1st person in Brazil to have the WSS discovered.

Thank you for the opportunity.

 

*Find others with White-Sutton syndrome on RareConnect, the online platform for people affected by rare diseases