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Noonan's Syndrome

By Michelle Ellis

I am almost 21 years old and was born in Brussels. I was a premature baby, born by caesarean at 33 weeks. I was born with a hole in my heart, mild Pulmonary Stenosis (which I still have), ptosis-strabismus. They didn't operate on my heart till I was 4 years old when they closed the ASD I had. I also had a series of operations for my squint and ptosis.

The early years were very difficult naturally. I apparently was a very stubborn baby that would not eat and would be sick! Those first few years I was sick quite a lot with ear infections and tonsillitis, bronchitis etc. etc. I was also very short, and low weight was a problem for a while. I find it hard to concentrate also and was bullied quite a lot.

It was 2 years ago now that NS started to become a familiar term to me. I quickly found The Noonan Syndrome Association. I receive a great amount of support from this group and am a member of the ListServer. In October last year I attended the conference organised by this group. It was amazing! I met people like me, people who understood me. I shared laughs, tears of compassion and understanding and our hopes and fears for the future. The doctors really wanted to learn what WE had gone through as kids living with this little known disorder to help our kids now and the future. Dr Noonan was there and I talked to her! I never thought I'd be able to meet her, and here I was in the USA talking to THE Dr Noonan, who has tirelessly researched this disorder.

In 1998 I was seen by the team at St George's Hospital in London, who confirmed my diagnosis as much as they could without a test. It was then really that it completely sunk in. On the medical reports it states that I have lots of the NS facial features, which I was quite unaware of. I also have scoliosis, lordosis, hyperextensible joints, mild chest deformity (though only very mild), cubitus valgus (elbow deformity) ,poor muscle tone (especially in my tummy), poor co-ordination, long sightedness and short sightedness, anti-smooth muscle auto-antibodies, poor circulation, very curly dry hair and tendency to bleed (loads of nose-bleeding episodes!)

My Pulmonary Valve Stenosis is stable at the moment and hopefully likely to stay that way which is a relief! I do suffer chronic pain for which no real cause has been identified, maybe the poor muscle tone, maybe something else. Many of us NS adults however have similar problems. I tire easily and cannot do much exercise, but I am a determined girl and get on with things.

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