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Zoe Noelle |
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December 26, 2008. |
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 Zoe
was born at Alma Birth Center (Portland, Oregon) on December 26,
2008. She was a couple weeks past her due date, but her midwives
were not worried. She was healthy at birth, and after crying for a
few minutes, she was quiet and alert. She barely slept for the next
two days.
Zoe was born with an extra finger on her left
hand. Her pediatrician tried tying it off at four weeks old, but
that didn’t work very well. The finger didn’t fall off like it was
supposed to. The string came loose nine days later, and when Zoe
started acting sick, we panicked and took her to the emergency room.
They tested her blood to see if she had a bacterial infection from
her finger, and though she didn’t have an infection, her liver
enzymes were very high. Over the next two or three weeks, she was
tested for everything the doctors could think of that might affect
her liver, including Smith-Lemli-Opitz Syndrome. Finally, she was
sent on to the geneticist. He told us he wanted to do a chromosome
test, but said “Don’t worry, I don’t think it’s a trisomy or
anything.” When the results came back, they showed that Zoe had
partial trisomy 13. She has about two-thirds of the extra
chromosome; I don’t remember the karyotype right now, but the extra
piece is inverted.
They never found out why her liver was
reacting that way – the enzyme level came down slowly over the next
seven months and is normal now.
Zoe is doing much better
than the doctors expected. She does have seizures, which are not
under control yet, and serious sleep issues (she wakes up every hour
and a half, and sleeps an average of seven hours out of 24). She
started walking on April 6, 2010. She has to wear orthopedic inserts
in her shoes because she has low tone, and without them she
eventually starts walking sideways. She isn’t eating a lot of solids
and at almost sixteen months old is still about 90% breastfed. She
says “up” (her first and favorite word), “dada,” “mama,” “baba” (we
think this means “bottle”), “papa,” and “puppy.” She doesn’t seem to
be able to understand differences in facial expressions and tones of
voice (she reacts the same whether someone is happy, mad, or sad).
She loves people, and loves showing off the new things she can do.
We saw a developmental pediatrician on March 22, 2010. She
said that Zoe seems to have some cognitive delays, but she doesn’t
want to do a full developmental assessment until September. She was
seen by a physical therapist the next week, who said that her
problem-solving skills are on the low end of normal, but she’s in
the normal range for her language and motor skills.
We
would love to hear from other parents. Please feel free to contact
us.
Marc and Mandy
mandyrae84@hotmail.com
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Submitted 4-10-2010 |
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