Noonan Syndrome (NS)
Support Group Introductions
Delhome, Veronique (as of 1/97)
Hello Everybody,
I'm new to the listserv. My name is Veronique, and I'm the mother of Lorette (born 3
october 1994) with Noonan Syndrome. I have also another daughter, Lucie, 7 years old,
without NS. We are living in France.
When I was pregnant, I had a polyhydramnios, but doctors didn't explain this problem. When
Lorette was born, she was send to the NICU, because she was "blue" (how do you
say that? In french : "cyanose"). Doctors told us that she had a heart defect
and that she was probably with Down's or Turner's syndrome. But chromosome analysis was
normal. She had a mild pulmonary valve stenosis and a hypertrophic cardiomyopathie, webbed
neck, lowset ears and short stature. She stood 6 weeks in the hospital and during her
first she was month with a G Tube for feed. Cardiologist told us that she needed no
treatment and no surgery now.
The first year was very hard. Lorette vomits often, and didn't eat well. At 5 months, her
head started to grow too quickly. Then doctors told us that she was probably
hydrocephalus. At 8 months, her head had stopp to grow (just before having an operation
for that). It was "only" another facial abnormalitie. Her big head had delayed
her for sitting and walking (sitting at 10 months, walking at 20 months). Her head's curve
is now almost normal.
The second year is very more easy to live. She eat well (specially cakes and chocolates!),
begins to say a few words, walk and climb anywhere! Her NS diagnosis arrived on july 1996.
Cardiologist only told us that this syndrome's effects were heart's defects and short
stature. I tried to get more informations on this condition, but most of doctors didn't
know the answer (or had bad informations on medical's books; I was reading for exemple,
that this disease affected only boys and that all of them had a mental retardation!).
Of course, I was very happy to find the Noonan's syndrome web site, and I was really
amazed by likeness of my daughter to childrens in the Gallery of Star ! And I was also
really happy to find other people who are living with a kid like Lorette.
Thanks to Wanda for replying to me so quickly and sending me the newletter of winter
96/97.
I have a question : how to get an article which is on the article's list on this
newletter? I take an interest in all of them who are talking about growth hormone. A study
of treatment with growth hormone will beginning in France at the end of 1997, and I hope
that Lorette wil be inclusive in this study.
As my English is very bad, I worked 3 days to write this letter! Dont be angry if I take a
long time to reply to you. I need a lot of hours to understand what you say!
Amities de France,
Mailing Adress:
Veronique Delhome
Place de la Mairie 26600
Gervans
FRANCE
E-Mail : malolu@aol.com
The Noonan Syndrome Support Group, Inc. and any associated parties will not be held responsible for any actions readers take based on their interpretation of published or disseminated material. Please review medical treatment and decisions with your physician.