Thursday, September 15, 2011

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!

4 comments:

Elizabeth said...

It's so frustrating to have to "wait" for diagnostic procedures to be affordable. I am wondering whether you know the blogger Erika who writes about her daughter Izzy with Angelman's Syndrome?

Carolyn said...

I hear you, Elizabeth. Right now they are just way out of my ballpark in terms of cost.

I found Erika in an Angelman's blog search. I had some trouble "following" her, but finally figured it out!!

Phil Dzialo said...

Hi Carolyn,

Ericka's site is http://ourhummingbird.blogspot.com/. Some really inspiring stories about life with Izzy.

Hope you get a diagnosis and that it's helpful. Most of the time we spend our lives dealing with the symptoms and manifestations. Daniel, however, a great energetic spark in his eyes and conveys a great presence. You're in our warmest thoughts.

Carolyn said...

Thanks, Phil! I'll check out mre of Ericka's site.

Daniel really is a little ball of energy. He has good drumming rhythm,too!