My daughter was just diagnosed today with 10q deletion syndrome. She has low muscle town (hypotonia), and is currently trached for not being able to breathe on her own. She was a preemie - born at 32 weeks. She's currently 7 weeks old.
Doctors have nothing to tell us - its their first time dealing with this syndrome. We're at Childrens Hospital.
Any or all advice from anyone with 10q deletion syndrome would be great.
How is she now? As you mentioned, Distal 10q deletion syndrome is a rare condition that has only recently been characterized. It is also difficult for the doctors to identify this condition in newborns. If the baby presents with any birth defects, then the condition may be suspected. Some children with distal 10q deletion syndrome may be born with a birth defect, such as a heart defect, urinary tract abnormality or cleft lip/palate. Some infants have been reported to have low muscle tone (hypotonia). This could cause problems with breathing.
She's finally at home after 9 mos in NICU.
She's ventilator dependent (24/7 on the vent)
She has severe hypotonia - does not move at all. She has an NG tube which will be replaced with a gtube at the beginning of next year.
Sometimes she smiles, but its rare. Her hypotonia is so severe she can't keep her eyes open.
Just found out I'm pregnant and that the new baby has the same deletion. Not sure what to do next.
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