Parents of boy with rare disorder believe others could also be sufferers

THE parents of a boy with a rare genetic disorder believe other children could also be sufferers.

And they are hoping to set up a vital support group if affected families band together.

The condition is known as 1p36 micro-deletion.

“We were handed our diagnosis and sent on our way; it was left to me to Google it to find out what it was,” says Miriam Murphy, 31, mother of two-year-old Uisneach.

A consultant finally told her and husband Michael Nolan, 42, their son had the condition.

That was in February 2010 when Uisneach was 18 months old and “at that time there was no doubt it was a disability and not a developmental delay. He was still not crawling, not rolling, not bum shuffling and had no speech”.

Miriam says they were lucky to get a diagnosis when their child was so young as some families had waited five or six years for a diagnosis.

In hindsight, she says, there were early indications that things were not as they should have been.

“With the condition there can be a flat-shaped head; it can be flat at the back. Uisneach had that but we were told it was superficial and would correct itself. It didn’t. It was possibly the earliest sign he had the syndrome.”

The shape of the head, face eyebrows and ears are all assessed before a diagnosis is made.

Miriam said: “I couldn’t understand why a consultant neurologist was placing so much emphasis on his ears, I thought he had cute ears.”

One of the reasons Miriam and Michael were able to get a diagnosis while their son was still so young is because of the “advances in genetic testing technology in recent years”.

“There are approximately 30 children in Ireland who have been diagnosed with it; the first diagnosis was in 1997, I believe.

“There probably are more people with it because the extent of under-diagnosis is quite high because previous genetic testing may have failed to pick it up,” Miriam explained.

“The incidence of the syndrome is one in every five or ten thousands births so there should be many more parents out there. All the doctors we have met have been fantastic but they had no information to hand on it. It is a systemic problem and we think there should be a database of information on rare diseases that doctors can access for information and let them know what referrals should be done next.”

Miriam, who is a professional researcher, searched the internet for information on 1p36 micro-deletion and that information she got lead to her initiating many referrals to have her son assessed for common problems associated with the syndrome, they included a cardiologist and an ophthalmologist.

Miriam and Michael, who is a photographer, and Uisneach, live in Ballybrack in south county Dublin and have kept a blog of their experience.

They can be contacted at [e-mail].