Monday 5 December 2016

Toddler's parents want to help others with rare disorder

Elaine Keogh

Published 29/12/2011 | 05:00

LITTLE Uisneach Murphy suffers from an extremely rare genetic disorder.

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But now the toddler's family are determined to provide support for other families who face a struggle with the condition known as 1p36 Microdeletion.

The genetic disorder delays growth and development but, in the past, few were diagnosed with it. Advances in technology in recent years mean that about 30 children have been diagnosed with the condition in Ireland since the late 1990s.

Miriam Murphy (31), mother of Uisneach, who is now two, said that she became concerned about her son's development in February last year.

"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."

Ms Murphy says in hindsight there were early indications that things were not as they should have been. "With this (condition) there can be a flat-shaped head; Uisneach had that but we were told it was superficial and would correct itself."

In hindsight 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."

Diagnosis

One of the reasons Ms Murphy and husband Michael Nolan (42) 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."

But Ms Murphy believes that there are more people with the condition, which might have lain undetected "because previous genetic testing may have failed to pick it up".

The couple are now campaigning for a database of information on rare diseases that doctors can access to let them know what referrals or tests should be done next.

The family, from Ballybrack in south Dublin, added that they could have used more support when Uisneach was first diagnosed.

"To have had a support group or helpline available to us and for other parents who hear shocking and devastating news is vital." said Ms Murphy.

Uisneach's parents are now planning to campaign online to set up a support network. They can be contacted at 1p36ireland@gmail.com.

Irish Independent

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