[ Post a Response | 22q Deletion Interest Board ]
Posted by anna --Previous Message--
on 6/3/2007, 5:54 pm, in reply to "Re: At what age was your child diagnosed?"
24.248.24.3
The trisomy 18 is interesting to me. I also had a high probability for trisomy 18 (1:10)prior to a positive FISH test for 22Q11. I was told there was no correlation between the 2 test but it seems you had a similar experience. In our cas the FISH test was persued due to renal and cardiac anomalies.
: 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.
:
: --Previous Message--
: 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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