Genetics Visit

A few weeks ago we saw our geneticist, Dr. Perszyk. He spent a lot of time watching Daniel, sizing up his unique characteristics, and deciding what direction we should take in looking for a diagnosis.

Daniel hasn't had any testing done since 2002, and there are better methods out there nowadays. The glitch is that most companies that do the testing won't bill medicaid or many times even regular insurance. Doc assures me that we are VERY close to much cheaper, wide array testing and that we will have a definitive diagnosis one day.

In the meantime, he referred us to the Angelman Syndrome expert, Dr. Williams of the University of Florida, Gainesville. We'll see him on December 12. Based on the diagnostic criteria, Daniel qualifies for a clinical diagnosis even without the labs to back it up. He meets all of the features required, and most that aren't. Of course, the way chromosomes work, he could be affected by something extremely closely related to Angelman's that hasn't been discovered yet. Dr. Perszyk believes it's Angelman's, and that Dr. Williams will make the call.

Here's Mr. Happy himself, on an October day in 2007:



Here are some of the diagnostic criteria for Angelman's that Daniel meets:

Severe Developmental Delay
Ataxic Gait
Happy Demeanor
Hypermotoric
Easily excitable
Hand flapping
Microcephaly <2 SD
Seizures
Abnormal EEG
Hypotonia
Feeding problems
Drooling
Mouthing behaviors
Strabismus
Sensitivity to heat
Fascination with water
Abnormal food behaviors

It helps to have a diagnosis because then we have an idea of what to expect in the future. It's also good to know which chromosome was affected and whether it's due to an imprinting defect or the absence of a gene. It's the scientific part of me that wants/needs to know.

Ultimately, he's my angel with or without a diagnosis, typical or atypical, because I'm his mom and he's my boy!