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Kriss
De Jong
Oakland CA
US I was diagnosed with Noonan Syndrome in 1986 at age 16. My doctor was concerned with my body's response to puberty & my overall size & some of the 'oddities' of my physical appearance. He suspected Turner Syndrome & sent me for genetic testing to Iowa City. They didn't find the mutation that would confirm Turner Syndrome and after examining me they diagnosed me with Noonan Syndrome. I have been part of the Harvard Study, which reconfirmed the diagnosis. I have many other health issues (some noted to be related to the Noonan Syndrome), including a Chiari 1 Malformation & functional cranial settling/craniocervical instability (decompression/fusion occiput-c4 05/05/05) w/ continuing posterior fossa compression & diminished flow 4th ventricle + high ICP, Ehlers-Danlos Syndrome, Tethered Cord Syndrome (de-tethering 01/03/07), Adhesive Arachnoiditis, Secondary Adrenal Insufficiency, Hashimoto's Thyroiditis, Growth Hormone Deficiency, Gilbert's Syndrome, Hiatal Hernia, IBS, GERD, Psoriatic Arthritis, Allergic Asthma, , Vasovagal Syncope, LSTV, scoliosis & other spinal abnormalities, & MS. I'm always interested to know what other people are finding & connecting together, how they are dealing with things like the digestive system issues & neurological issues and would be interested to know how many other adults are on growth hormone that have Noonan Syndrome. I was excited to find out, when I met my new endocrinologist, that he actually knew Dr Noonan and is very knowledgable about Noonan Syndrome. Much better than the usual blank look.
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