My niece Amelie was born on New Years Day 2013 and was subsequently diagnosed with Pierre Robin Sequence (PRS) after having immediate breathing difficulties and being rushed to the neonatal intensive care unit (NICU) of the Norfolk and Norwich Hospital. 

PRS is rare, affecting around 1 in 8,000 to 30,000 babies. It has 3 main features:

Cleft palate - an incomplete closure of the roof of the mouth, often wide
Glossoptosis - a tendency for the base of the tongue to ball up and fall backwards into the throat causing obstruction and therefore breathing difficulties
Micrognathia - a small lower jaw

As a result, babies with PRS experience breathing and feeding difficulties, of varying severity. They can also suffer with Gastroesophageal Reflux and many need additional calories to grow, given the breathing difficulties they face. 

PRS can occur in isolation or can often form part of another genetic syndrome. At the moment the cause of Amelie's condition is unknown. 
The long term outcome for PRS babies is that the chin continues to grow forwards, with improvements in the first year and continuing through childhood. The palate is repaired through surgery any time from 6 and 19 months of age.

Amelie's story

Amelie was unable to feed orally from birth and so was fed through a nasal-gastric tube and at ten months old she had an operation to insert a gastrostomy - a feeding tube straight into her stomach. She is still gastrostomy fed and remains on a high energy diet due to her intense reflux and slow growth. 

After being discharged from NICU at 2 weeks old Amelie contracted a nasty strain of the winter bug bronchiolitis, affecting the lower respiratory tract, and so causing significant breathing problems due to the PRS. She was hospitalised for around 4 weeks in total and the illness plagued her throughout her first year. 

From birth to around 6 months, Amelie was unable to lay flat on her back, due to the tongue falling backwards into her throat. She was laid on her side most of the time both when awake and sleeping, to avoid the breathing obstruction.

In November 2013 (at 11 months) Amelie went to Addenbrookes hospital for her palate repair surgery. The soft palate was repaired - ie the fleshy, flexible part towards the back of the mouth. The cleft was too wide to repair the hard palate (the front, bony roof of the mouth) and so this operation is scheduled for 30 April 2014. The operations involve a 3-5 day stay in hospital and it can take a long time for babies to recover from the trauma, and the anaesthesia, as in Amelie's case. However after the hard palate repair she will have no further scheduled operations.

Amelie's care remains complex and requires involvement from a huge ranging team of experts - including paediatricians, nurses, dietician, speech and language therapists, physio and audiologists.