[ Post a Response | 22q Deletion Interest Board ]
Posted by Amy --Previous Message--
on 11/8/2005, 7:48 am, in reply to "At what age was your child diagnosed?"
64.108.150.111
Hi Whitney,
My daughter (who's now 8) was diagnosed when she was about four-months old. However, I've spoken with specialists who have known people who have not been diagnosed until they were adults. (One woman was tested only after she had a baby with the disorder. In genetic counseling, the doctors looked at mom and saw some of the characteristic findings and suggested she be tested too. Until then she had no idea.)
I think for kids with more severe findings, they're often diagnosed sooner. My daugther had a heart defect that required surgery. While the surgeons were working, they noticed she had no thymus and recommended testing. Without that tip off, I can say with much certainty, she would never have been tested and we would be flying blind even today.
For children with less severe findings, testing may not come for some time, if ever.
This disorder was not even identified until 1978 Dr. Robert Shprintzen in New York described it and gave it the name VCFS - (By contrast- to give you a comparison - Downs syndrome was first identified in 1866!) In terms of a recognized condition, VCFS/ 22q is fairly new and not as widely known as many of us wish it would be.
Good luck with your son. If he should test positive, remember you're not alone. And don't be afraid to educate teachers, doctors, etc about the condition. You're his best advocate!
amy
: Hello everyone. We have a 3 year old
: son and are revisiting the idea of
: having him tested for a 22q
: deletion. He does not have any
: cardiac or palate difficulties that
: we know of (unless they are minor
: and have never shown any sort of
: presentation.) He does have several
: of the characteristic facial
: features (asymetric crying facies,
: broad bridge to his nose, epicanthal
: folds, small teeth, hooded eyelids,
: red/blue circles under his eyes.) He
: had bad GERD as a baby and has
: always been on the small side in
: height and weight. He also showed a
: developmental delay in gross motor
: skills and language development,
: although he has caught up on those
: now and only seems to struggle with
: some fine motor skills. Also, we
: are starting to see some signs of
: social and learning difficulties
: (attention difficulties, fixation on
: one object/topic, severe separation
: anxiety even though he's been in day
: care since 6 months old, sensory
: integration issues etc.) All the
: stories that I read are of children
: who were diagnosed in infancy
: (usually because of cardiac
: problems) and I guess I'd like to
: know if there have been children
: diagnosed later in life.
: Wow! Sorry for the long message.
: Thanks in advance for your help!
:
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