Noonan Syndrome (NS)
Support Group Introductions
Cross, Sue (as of 4/99)
I have (finally) got round to introducing myself. I am Sue Cross from London, UK. My husband, Neil and myself have two daughters, Sarah, who will be 5 in May (no NS) and Emma, who will be 3 in July and has NS. I keep joining the listserv and find myself with 200 messages because I havent had time to read them all!
Emma was born, 6 weeks prematurely, with hydrops fetalis, and is very lucky to be here at all really. She was ventilated at birth, for one month, and finally left hospital at 9 weeks of age, just off oxygen. >From 6 weeks of age she was breastfed- I filled up 4 drawers of the hospital freezer with expressed milk. Although Emma had a few set-backs in hospital (pneumonia, a intra-ventricular bleed causing hydrocephalus) and diagnosis of a small ASD and pulmonary stenosis, all was otherwise assumed to be well.
But Emma hardly put on any weight over the next few months and vomitted up her feed at least a couple of times each day. I can remember thinking she was starving to death in front of me and no-one could help. When Emma was 4 months old, the neurosurgeons decided that her failure to thrive, vomitting and developmental delay were symptons of hydrocephalus and decided to insert a shunt in her head the following day. For some reason that I will never know, I did not feel that this was right. At the same visit to Great Ormond Street hospital, I met a 9 year old girl who had NS. Her mother commented that Emma seemed very similar to how her daughter had been. I asked to see the Geneticists, who queried NS at 6 months. Emma was definately diagnosed at 12 months, in July 1997, by which time I had contacted the BDF helpline in the UK and found the TNSSG web-site - so I was beginning to gather information. I found the case studies from families very interesting (but also quite distressing and sad). We have now been to two family days here in the UK, organised by the BDF where we had chance to meet other families affected by NS and gather information.
The worst time for Emma was definately during this first year. Sandra at the BDF helpline was extremely helpful to my concerns about Emma’s poor growth and very supportive to my inclination that continuing breastfeeding was best for Emma. She did her best to convince me that Emma’s growth was normal for NS (9lb 8oz at 6 months and 13lb 12oz at 12 months). When Emma was 6 months old I was told that she was moderately to severely deaf- she always has glue ear. The audiologist now thinks she has nearly normal hearing even with the glue ear- so no intervention here yet!
Heather Nye contacted me through the TNSSG web-site and Emma met Becky at the BDF family day last November. It was so funny seeing then, Becky is almost 1 year older than Emma, but so like her in lots of ways. I have found it very reassuring talking to Heather about Emma’s problems/progress to discover that Becky experienced the same things and has got over them.
To summarise Emma’s features; she has a (nearly closed ASD) and pumonary valve stenosis, ptosis, squint (left-eye), low set ears, widely spaced eyes and nipples, glue ear, hypotonia, persistent vomitting up to 2 years, constipation, gross motor skill delay- sat at 12 months, walked at 29 months, just crawling now, speech delay. We have been lucky enough to attend the Hanen (parent led) speech therapy programme here and her speech has progressed from a few words to over 250 words and a few two word phrases in 4 months.
Her main support requirements are a pre-school support teacher and speech therapy. She sees about 16 specialists in all- including a special needs dentist who said she was the oldest child he had ever seen without teeth (none at 23 months- she now has 8).
Emma has very poor resistance to infections, eats (very) little and often and still wakes up a couple of times every night. Despite this she is a very happy, affectionate child, who is a joy to be with- and is beginning to torment her older sister. At 2 years and 8 months she is 19lb 6 oz and 79 cms tall.
One of the most helpful things I have done is to write down her progress (speech,motor skills, understanding etc) once a month in a small notebook. It helps me to focus on how much progress she has made and is useful for assessing her needs for playgroup/nursery/school.
I am always so busy (I work part-time and help with fund-raising at Sarah’s school)- thats my excuse for not writing all this before- but I do try and help to raise awareness of NS whenever possible. Emma has been a case study in medical exams at our local hospital and at GOS. only last Sunday I was interviewed with Emma by her endocrinologist, to make a teaching film for doctors here to learn how to recognise disorders from abnormal growth patterns. They have promised to let me see the end result.
Anyway, must go and change the beds......
Sue
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