Shawn was born on 2/1/95. He spent 16 days in the NICU. We knew nothing before he was born, my pregnancy was as they call normal, until I went into labor 4 weeks pre-mature. When he was born they knew there was a problem. He had to be put in an oxygen little dome around his little head. He had a large ear tag, that fell off the first night, with two more little ones that he still has. He also has an extra toe, which has been removed. We then found out that it was a chromosome abnormality that caused all of this. He has webbed feet. He is also blind, with no optic nerves. He was only 4lbs.7oz. at birth. He is still very small for his age. He has pulmonary stinosis, multicystic kidneys, and decreased muscle tone. The genetic doctor wrote in her findings that he has bilateral colobomatous microphthalmos, and bilateral corneal leukoma, patent ductus arteriosus and that they thought he has a left polycystic kindey. But he has multisystic kideys instead as per the urologist. The genetic doctor also wrote in her report that he microcephaly, receding anterior hairline, anterior fontanel is full, left eye is smaller than right, corneas appear cloudy, small nose, flat nasal tip, bilateral thin helices, long ill-defined philtrum, thin upper lip, normally sized tounge with evidence of tight frenulum, grade II/IV systolic ejection murmur at left 0parasternal border, postaxial polysynadactly of the left foot, he has signifiacant dysmorphic features and development delay, He has duplication of chromosome 10 from 10q22 to the terminal end.
Shawn is now doing pretty good. He is attending a special school through the state and doing well. He is now trying to sit up and starting to crawl. They're also putting him a standing table to stregnthen his legs and back.
--- Michaelle and Colin
|Birth Date||Feb 1995|
|Diagnosis||Distal 10q 22-qter|
|Parents||Michaelle & Colin Wilkie|
|City||Santa Ana, CA. USA|
|No current address!|