- Hypomelanosis Of Ito
- Interviews
Emma Bruney's interview
How did all start?
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.
Do you already have a diagnosis? How long did it take you to get it?
From the start of the paediatrician asking for other specialists to see my son it was about 10 months.
For what medical specialties have you been treated? What has been the most useful specialty for your?
Dermatologist
Ophthalmologist
Geneticist
Paediatrician
Neurologist
Most useful was the dermatologist as they told us what the condition is.
What has been the most useful thing for you so far?
Information online.
What have been your biggest difficulties?
Not enough information, with it being a rare disease.
How has your social and family environment reacted? Have your social or family relationships changed?
Some family members struggled to accept it. We kept it to ourselves for a few months until all the tests were done.
People don’t really know how to react when you talk about it.
What things have you stopped doing?
Nothing. It hasn’t stopped my son being being the clever, funny boy he is.
He has more issues with his autism and learning difficulties.
What do you think about the future?
I am worried he may develop epilepsy around puberty, as this has been said to us.
So far, which years have been the best years in your life? What have you done during them?
When we have taken the family to Florida on holiday.
What would you like to do if you didn’t have your condition?
Autism and hypomelanosis of Ito are linked, so either way my son would have a condition.
He knows he is different.
He would like to own his own restaurant when he is older.
If you had to describe your life in a sentence, what would it be?
My son is loveable little dinosaur who is kind, caring, loving and funny.
Finally, what advice would you give to a person in a similar situation?
To join support groups to find information, as it is difficult to get any.
