ican Stories - Jacob

Jacob Orion  (JAKE) was born on 5/26/04 after a complicated delivery.  We were ecstatic to have our beautiful little boy finally in our arms.  The pediatrician immediately referred several specialists to examine Jake because his face looked "dysmorphic."  The first few specialists dismissed the "odd face" as due to the difficult delivery.  24 hours after he was born the final specialist came in to examine Jake.  The alarm bells first went off in my mind when the doctor asked "If my other son was normal."  He then stated he needed to talk to my husband and I together. He said that Jacob had "ambiguous genitalia" and we could continue to consider him a male, but he could have a uterus.  He said he needed to transfer him to a high level NICU by ambulance as soon as they could arrange it.  They thought he could have other endocrine issues which could be life threatening.  About an hour later his eyes were examined by a pediatric opthalmologist who told us he had underdeveloped eyes, (bilateral microphthalmia) and could be blind.  At around 6 months my husband and I learned that Jake also had microcephaly (small head).   At that time they tested Jake for a few syndromes of which the children usually never talked or walked. He had trouble with weight gain and growth, and was technically failure to thrive.

Now Jake is 3 years old and a very active walking and talking boy. Despite our huge concerns for his cognitive development, he is following typical development thus far, other than some fine motor delay.  He knows his shapes and colors and many letters.  He has a small amount of vision in one eye ( about 1 ft in front of him without detail) and navigates astoundingly.  He has never  fit into any syndrome, and all genetic testing has not found any micro deletions.  He started growth hormone at age 2 1/2 and has been growing like a weed. He was given testosterone for his micropenis, and it grew quite a bit too. We turned our living room into a sensory, montesori like pre-school to provide as much stimulation as possible. He is such a loving, delightful miracle child.  I really wanted to share my story with other parents, because sometimes when you are given grim news, your child may defy all the odds and statistics.  Don't give up the "fight" for your child to get as much services as possible, and don't forget that you are your child’s best and most important therapist.
 
Nona