Thursday, 6 November 2008

Recent trip to Geneticist at Starship

Last week Kaydin had an apointment with a Geneticist at Starship hospital. His cardiologist (he has annual check ups) referred him as she suspected that he may have something called 'Noonan Syndrome'
We arrived at the Geneticist who was very friendly and even remembered us from when Kaydin was 3 months old (he was the one who caught Kaydins heart murmur and droopy eyelid). After examining Kaydin he told us that there are 2 similar conditions which he may have, 1 is 'Noonan Syndrome' which doesn't have any major prognosis other than his heart condition (pulminary stenosis), infertility (due to undescended testicles), hearing problems and learning difficulties. The 2nd one is 'Neurofibromatosis 1 (NF1)'which in most cases is still fairly benign but things like his heart condition, cafe-au-lait (coffee spots), Lisch nodes on eyes, tumors (mainly on the spinal nerves, speech and learningDisabilities, ADHD plus a whole lot more. The best website i found while researching was
Kaydin is being referred to an audiologist at Starship to test his hearing. He is also being referred to an opthomologist at Greenlane to look at his eyes especially for the Lisch nodes and possible tumors. Until those tests are done there won't be a confirmed diagnosis of either one and still possibly not til after he is six. The Geneticist is going to see him anually until then either way. Will update again after hes had his apointments.

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