[ Post a Response | 22q Deletion Interest Board ]
Posted by Marisa --Previous Message--
on 5/31/2007, 2:02 pm, in reply to "At what age was your child diagnosed?"
70.155.202.103
My daughter Lili, who is now 28 months, was diagnosed at 16 months. While pregnant she popped up a genetic scan as having trisomy 18. After an amnio she was thought to be fine since her genetic testing came back normal. Lili was found to have so many issues her first year of life and was very ill. After repeated genetic testing she finally underwent a FISH genetics test that revealed the deletion at 16 months of age. Lili is a sweet girl with a lot of medical, developmental, and major speech issues. She can only say 3 words right now at almost 2-1/2 years old. Just keep fighting for these kids and God willing with enough research and activism we can educate everyone (ESPECIALLY THE SCHOOLS AND THERAPISTS!!!) about this condition.
: 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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