Noonan Syndrome (NS)
Support Group Introductions

Cinnamond, Lucy (as at 3/98)

Hello everyone,

My name is Lucy, mom to Taryn aged 10 who has been diagnosed with Noonan / Costella Syndrome, in May 97. My husband is Tony and we have two other children (who are uneffected), Kelly Aged 11 and Ryan who is nearly 4 years old.

Taryn was born a month premature and weighed 3,2 kg. I suffered from polyhydramnios whilst pregnant and doctors suspected Taryn had a blockage in the oesophagus (this was probably cystic hygroma) They told us Taryn would probably be operated on immediately after she was born. This was however not the case and she was admitted to I.C.U. She was fed by NG tube for a few days. She developed jaundice with a count of 17 and was placed under the ultra violet lights for 48 hours. Taryn came home after 10 days. She literally cried 24 hours a day for more than a year. I struggled to breast feed her, she vomited excessively during the day and night. At 5 months old she went into hospital to have a series of tests carried out. She was diagnosed as having an enlarged liver and spleen, heart murmur, duplex kidneys, pectus excavatum chest, hypotonia and coarse facial features.

At nine months old Taryn had surgery to remove the duplex kidney on the left hand side. Taryn reached all her milestones of sitting, crawling, walking and talking very late as well as difficulty with fine and gross motor co-ordination.

At 5 years old Taryn had further surgery on her kidneys, an umbilical hernia repaired and a diverticulum removed. She has had various operations for dentistry work carried out, 8 permanent teeth removed as her mouth is to small. She has also had a biopsy carried out for tumours in her jaw, as well as her tonsils removed and grommets put in. Her hair has started over the past three years to periodically fall out. At present Taryn attends a school for special education where she receives OT,ST & PT. Taryn has over the years been diagnosed with Down Sydrome, one of the Trisomy Syndromes, possibly Leukemia and worst of all Mucopolysaccharidosis. We were fortunate last year when a genetist from Manchester visited South Africa and I think has finally diagnosed Taryn correctly. The support group is our life saver, we have learnt so much over the last few months and what ever life holds for us in the future with Taryn, we know we will not be alone as we have all you wonderful friends in the support group who have been a constant inspiration and help to us.

Love

Lucy

South Africa

e-mail address : cinn@global.co.za

 

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