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salem's story

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Geneticist/Cardiologist Update

2003-04-01 7:31 p.m.

I am a tad stressed! **Sigh** Salem's geneticist appt was today. The Dr. said Salem has a couple of markers for Noonan's Syndrome. Apparently Noonan's isn't only in boys. Basically confusion has arisen between what is now known as Noonan Syndrome and Turner's Syndrome. Turner's has some similar features, including neck webbing, and short stature. It only occurs in females and is caused by loss of a sex chromosome (an X or Y chromosome).

For many years these two disorders have been muddled. Careful clinical examination, chromosome analysis and recognition that Noonan Syndrome affects males and females, and can run in families, in multiple generations, serve to distinguish these two conditions.

But the geneticist says she is careful to label a child with such a diagnosis in a child as young as Salem so she wants us to wait and see and come back in 6 months. So we know nothing.

And the cardiologist appt was terrible. Salem awoke during the echo and screamed and kicked. The poor baby. I had to hold her down and I hated that. I HATED IT! Dr. F said the results he could see on the tape were rudimentary and imperfect but he doesn't believe she is worse. Pretty much standard quo so he said rather than traumatize her further and try again we were going to wait and make another appt in a month or so. He did adjust her medication. She now weighs 13'8'.

So of course I come home and do some research on Noonan's. Sadly enough there is very little on it in the US. The UK has done extensive research.

I am going to print what I found here and take it to my ped and see what he thinks. I specifically concerned cause she has these markers:

* Her eyes are widely spaced - not abnormally so but it is there. :(

* The heart problems - specifically Pulmonary Stenosis and the Hypertrophy.

* Polydramnios during pregnancy can be a marker (I had polyhydramnios).

* Birth weight is generally average...but 40% of infants with Noonan Syndrome gain weight poorly and fail to thrive during the first years of life.

So anyway I am trying not to stress but it's hard. A child doesn't have to have ALL markers to have it.

So that's our update today.

October 11, 2006 - 2006-10-11
Back from Vacation - 2006-07-18
July 3, 2006 - 2006-07-04
Parenting is Hard - 2006-06-30
Update June 23, 2006 - 2006-06-23