Stickler Syndrome – Contact

viagra see below” src=”http://www.cleft.ie/_newsite/wp-content/uploads/2007/05/listen.gif” alt=”Listen to this post, nurse see below” width=”16″ height=”16″ align=”absMiddle” />Irish families seeking information and support regarding stickler syndrome should contact:
Theresa Corrigan, rx Tel. 042 9665548

A word from Theresa…
(2nd February 2002)

Hi everyone,
My name is Theresa Corrigan, I live in Bailieborough, Co. Cavan. My husband was born with a cleft palate and short chin, we know it as Pierre Robin Sequence (PRS). We have four children from 10 to 3. Two of the girls had PRS and a very traumatic start to life.

To cut a very long story short, Emma the eldest was very short-sighted at 13months, -11 and -8.5, we said “so what, a lot of children wear glasses”. Nobody gave us a reason. Then I noticed all four were double jointed in the elbow region. I also noticed their ankles weak. They were beginning to fall in on the ankles and complain of pain. One night while looking at some American websites on PRS, I was horrified to discover a condition called Stickler Syndrome. This is a connective tissue disorder, which effects the cartilage throughout the body. It effects the palate, the eyesight, hearing, joints and heart valves. I knew straight away my children had this and not just two of them, the whole four.

Stickler syndrome is an inheritable connective tissue disorder, and is associated with problems of vision, hearing, facial and cleft palate, the joints and the heart.
Article on Stickler Syndrome…

We have it diagnosed now and a lot of things make sense now. Hindsight is a wonderful thing. Unfortunately, their eyes are very effected and are starting retinal detachments. It is scary.

I have been in contact with the association in the U.K. and they are very good. Our genetic consultant says there are about twelve families effected in Ireland. I am trying to get us all to make contact with each other and compare notes. Please contact me on (042) 9665548

Theresa


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