Member Stories

I am a mother to three children with my husband Anthony, and our second child, Rose (born in 2005) has Noonan Syndrome. Rose has two brothers. Diagnosis Rose had a healthy birth weight (3.27 kg) but by 12 weeks her weight had dropped from 25th to 2nd percentile which started to cause concern, despite breast-feeding well. Her heart murmur was detected at 4 months when she had a chest infection, so was referred to the paediatric cardiologist at Addenbrooke’s hospital, Cambridge. It was confirmed that she had pulmonary valve stenosis and with her small body size, abnormal face shape and widely-spaced eyes, he suspected Noonan Syndrome. The consultant suggested that we could have Rose tested for the diagnostic gene at the time, which could only…