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Natalie |
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May 19, 2008 |
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Baltimore, Maryland
- Partial Trisomy 13; Duplication 13q22.3 qter; Deletion
of 2p25.3 pter |
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 Natalie was
born on May 19, 2008, full term at almost 40 weeks. We had no
indication during my pregnancy that anything would be wrong. When
she was born, we noticed she had polydactyly of the hands and feet.
While it was surprising, we dismissed it as an anomaly. Around 2
days after birth, Natalie developed rapid breathing. She was
breathing as quickly as 90 breaths per minute. I contacted the
pediatrician, who referred us for a check X-ray to make sure that
there was no fluid in her lungs. Everything was normal. There were
no answers, and by about 4 months of age her breathing was mostly
normal. I also noticed one day that she had a short frenulum and a
slightly heart-shaped tip of her tongue. We consulted two pediatric
specialists, and the second one decided to clip her frenulum, making
nursing much easier for her.
Natalie has always looked
“normal”, but her body language was not. Among the constant
reminders that all babies develop differently, I somehow knew that
these things were not coincidence. By 6 months, she would maintain
eye contact for only a few seconds, and was not tracking objects
well, just barely gaining interest in toys, and not really sitting
up independently. We decided to discuss with the pediatrician having
her evaluated. She was sent to a neurologist, geneticist, and
referred to Early Intervention for therapy. It took several months,
but by 10 months of age we had the diagnosis of partial trisomy 13.
It was determined that her father has a balanced translocation. We
no not know the status of her older sister.
She started PT,
OT, and cognitive therapy at 8 months of age. She was sitting up by
a year (and getting to a sitting position on her own), crawling at
18 months, and now, at 24 months, is easily cruising along
furniture, climbing stairs with ease, drinking from a straw,
stacking rings on her stacker toy, pushing her push wagon, and
beginning to use communication cards. She uses “Sure Steps” ankle
braces to help steady her walk. She has low tone, and as a result is
very flexible.
Natalie is very happy, has always been a very
happy child. She loves the company of her big sister. She adores
music, and any toys that make music. She’s been screened for
seizures, and was found to be OK. We’re so blessed that she has no
medical problems. She eats well (loves chicken, broccoli, and
cinnamon raisin toast!) and has never required feeding tubes or a
swallow study.
We’re not sure what the future holds for
Natalie, so I’m learning to be very careful not to write her future
for her. I constantly remind myself not to assume there are certain
things she’ll never do. As the other parents of partial trisomy kids
know, there are a wide variety of outcomes, abilities, prognoses. It
is tough at times not knowing what to expect. But I try very hard
not to think beyond a year or two into the future.
I would be
happy to communicate with anyone who wishes to contact me at
Stephanie
NataliesMom08@gmail.com
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Submitted 5-17-10 |
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