Jaeden was born in March 2009. He was a healthy baby boy with no initial issues, even scoring an APGAR score of 7 when he was born. At three months of age, Jaeden started to present with irritability, lack of eating and lack of weight gain, inability to hold his head up (his head would always lean to one side-what I thought was torticollis) and poor central tone-hypotonia.<\/p>\n\n\n\n
As the months progressed, Jaeden\u2019s developmental delays were becoming apparent, and we knew something wasn\u2019t right. He struggled physically and verbally to do things that came naturally to other children like sitting up, crawling and playing with toys.
We were referred to a myriad of doctors from GI to Neurology to Genetics. We did not have an answer as to why he had these developmental delays; none of the doctors had ever seen anyone like Jaeden. It was thought that Jaeden might have cerebral palsy with dystonia and spasticity. I believe a lot of boys are misdiagnosed with cerebral palsy as no other etiology is known or could be found.<\/p>\n\n\n\n
After Jaeden\u2019s second MRI, it was found that he had delayed development of myelin. Jaeden was then admitted to the hospital for pneumonia and bronchiolitis. During his hospital stay, numerous blood tests were performed, including a thyroid test that came back a little abnormal, the first to test to come back abnormal. This will turn out to be the key in Jaedens\u2019 diagnosis.
With these results, Jaeden\u2019s physical therapist and I were diligently \u201cgoogling\u201d things on the internet to find out what could be wrong. On April 23, 2010, Jaeden\u2019s PT found a website about Allan-Herndon-Dudley Syndrome and it seemed to fit most of Jaeden\u2019s symptoms. I was puzzled, as we did not have any family history of the deficiency, however, I called the genetics counselor to get Jaeden tested.<\/p>\n\n\n\n