The Many Faces of Moebius Syndrome!

Brianna's Story

Brianna was born on September 18, 2009, at 39 weeks gestation. We knew prior to her birth that she would have bilateral club feet and were monitored for polyhydroamnios (excess amniotic fluid) but were assured the baby was healthy. When Brianna was born, she could not breathe due to a restricted airway caused by her extremely small lower jaw (Pierre Robin Sequence). The neonatologist at our local hospital had to keep his finger in her mouth to keep her airway open. She was rushed to a NICU in Syracuse, 1 hour away, where she still is today.

Brianna was intubated and breathed on a ventilator for several weeks. When she was 19 days old, she had tracheostomy surgery to give her a secured airway. When she was just 31 days old, she had a gastro-intestinal tube (G-Tube) surgery to allow her to eat without tubes going down her throat. Prior to the G-Tube surgery, there was a swallowing study done to see if she could swallow…the study came back negative so the surgery was done. However, since the G-Tube surgery (and all tubes removed from her throat), she has been swallowing. Probably not enough to sustain her at this point due to the small jaw but she doesn’t drool much anymore and we can see her swallows under her chin.

Brianna has not been officially diagnosed with anything but we know that she has Moebius Syndrome. The question on her diagnosis is whether or not she has Carey Fineman Ziter Syndrome (CFZS), which is a combination of Moebius, Pierre Robin, and hypotonia (lack of muscle development). CFZS is extremely rare and there is not much literature available on that syndrome. However, whether or not she has CFZS, she has Moebius and we are moving forward with that knowledge at this time.

Brianna is now 3 1/2 months old and is still in the hospital. Brianna has been making great strides in the last month or so. Early on, she had difficulty weaning from her ventilator. She was not good at the transitions from ventilator to trach collar directly. We had to first wean her from the ventilator to Continuous Positive Airway Pressure (CPAP) with added pressure at each breath. Then from CPAP + added pressure she was weaned to just regular CPAP. She is now working on transitioning from CPAP to Trach Collar and has been doing a great job. She is on her Trach Collar 8 hours a day now and increasing hours every few days. We believe she will be released to come home sometime in the next few weeks.

We visit her every day and are very proud of Brianna for her accomplishments! We cannot wait until she can come home to live with us!