Story about Hypomelanosis Of Ito , Autism.

My son’s story

Apr 3, 2018


My son was diagnosed with autism when he was 18 months old. He always had pigmented skin down the whole of his right leg and the back of his right hand, looks like marble. I had asked many times what the pigments could be, maybe a birth mark, maybe due to ethnicity. Finally in 2015 the paediatrician sent us to see a geneticist who took my sons blood, the results came back with a mutation in his blood but there wasn’t enough information or research as to what it was. So we went to see a dermatologist, who straight away told us what it was, hypomelanosis of Ito, however he said there was nothing to worry about. A week later we were asked to attend an emergency paediatrician appointment without my son. One of the first things she said to us was “I’m so sorry, there is a chance he could have a brain tumour and we need your permission to do an MRI”. Obviously this was heartbreaking. The paediatrician had never heard of the disease but a colleague had and advised medical checks to be done. So he had an MRI which showed he had a cyst on his brain, which in time he could develop epilepsy. Otherwise the MRI was fine. He had his kidneys checked with an ultrasound which were fine. He had his eyes checked, he had to wear glasses for a while, but they are not compulsory now.
My son is fit and healthy, for now the only symptoms my son has of hypomelanosis of Ito are the mosaicism on the right side of his body. A squashed ear, spaced out teeth- big gaps, autism and learning difficulties.

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