Advice needed on Noonans Syndrome

[mumof8kids]

hi
My 14 month old has been diagnosed with noonans I have seen a genetic councillour but am still a bit baffled to be honest. He has pilmanry stenosis and is small for his age (ust in 6-9 mnth clothes) he weighed 8lb 9 at birth and is 18lb now although he does keep losing weight 9-10lb at a time then regains it Dr has told me that he has been refered for a renal scan but unsure why Any advice would be great

Hi, sorry I didn't reply earlier. My DD (6) has noonans. She was diagnosed when she was 11 months. She was on the 98th centile when she was born and had dropped off the graph by 4 months. She also has pulmonary valve stenosis which is fairly standard for noonans and had renal kidney dalitation when I was pregnant. She was put on to an anti-biotic when she was born and it had disappeared by the time she was about 8 weeks. She also had major reflux. My advice would be:

1. Ignore the growth charts, they are not relevant to noonans. There are noonans growth charts but no-one has ever managed to show us one. Slow/poor weight gain is typical. My DD finally made it back on to the chart at 18 months and is even now only on the 9th centile.
2. Take any help you can get; OT,physio,speech therapy,feeding clinic etc. We were not happy with the "wait and see" approach. Don't be fobbed off with "they'll catch up".

Hope this is of some help. Any other questions, I'll do my best to answer.

Agree with advice to take all help you can. My ds is nearly 3 and we meet with genetisit later this month. Dilated kidney picked up on scan, pulmonary valve stenosis picked up shortly after birth. 75th % at birth then proceeded to drop down chart for months - now at 9th for weight. Was repeatedly told there was nothing wrong but finally got seen by endocrinology who said strong case for noonans - am a bit annoyed it has taken so long to get this far. Have you ever considered growth hormone treatment?