Zoe
Duplication Inversion 16p13.3-13.1
Editorial Note: With great sadness we report that Zoe passed away in her sleep in December 2002. Please keep her family in your prayers.
Zoe was born on Sept 25, 2001 at 35+ weeks. The pregnancy was normal. The only concern was an 18% growth discordance between Zoe and her twin sister. The growth difference wasn't of concern to my obstetrician. She did have a weak cry, at her first feeding her 02 level dropped and she required 02 during her feedings. She would also reflux through her nose. They did a barium swallow and found no abnormalities.
At 2 days old they sent her to the NICU at a Children's Hospital. She was there for 10 days and they could find nothing anatomically wrong with her. They did consult genetics because of dysmorphic facial features. At that time he found a duplication on 16p but told us it was not linked to any known disorders. She was sent home on an apnea monitor and 02. By December 2001 she was off the apnea monitor and 02. She seemed to be progressing fine. She was on Reglan and Zantac for reflux. By January her weight gain had slowed down. She still had the reflux, also low muscle tone. Our pediatrician thought she had Pradder Willi Syndrome. The test came back negative.
They referred us to gastroenterology to see if the reflux was causing her slow weight gain. The gastroenterologist referred us to another genetics doctor to investigate the extra chromosome material found earlier. That is when we found out where the duplication was. She is now 11 months old and weighs 13 Ibs 3 oz. She has had a renal ultrasound which came back normal. She is wearing glasses for strabismus and nystagmus. We are waiting for her to see a developmentalist, ENT, cardiology , and audiology. She has seen neurology and her MRI came back within normal limits and there was some decreased white matter. Zoe can roll from back to stomach. Lift her head up while she is on her belly, reach for objects, laughs and smiles.
I look forward to getting to know the other parents and learning more about Zoe's condition.