Tuesday, February 16, 2010

A Long Overdue Meeting About Genetics

That sounds ominous, but really, was it nothing more than a routine chat with a genetic counsellor about Nathaniel's condition--but an important one that should have occurred within the first months of his birth. For reasons unknown, shortly after the "fish test" that confirmed the presence of the suspected extra copy of chromosone 21 (Trisonomy 21, as it is officially known), we were provided with no additional followup from Mt. Sinai hospital--despite our constant inquiries--and not until after Dr. P. made a formal request for a consultation on our behalf.

Meeting with us at Sick Kids Division Of Clinical And Metabolic Genetics, counsellor Lucie was able to provide for us that which has eluded us for more than a year: the official Chromosone Report of Nathaniel's diagnosis, dated December 12, 2008 (nine days after he was born). It confirmed that Nathaniel's DS type is standard--not partial or mosaic (which was suspected given his comparatively minor signs), but not much of a signifier of his potential progress anyway.

Given how much time has passed--Nathaniel is approaching 15 months of age, after all--a lot of the key subjects of concern have already been addressed thanks to the expertise and diligence of our pediatrician and the good folks at Surrey Place, esp. hearing and the heart, as well as the importance of early intervention and a discussion of available public resources. Within the next few months, we've got to schedule check-ups on his vision and thyroid, as well as a follow-up hearing test. It's depressing and more than a little bit frightening to realize that such carelessness can go unchecked in a system that so many rely on for quality of life, especially with such tiny, fragile lives involved...

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