Patient Stories: Born with Pierre Robin Sequence

Ashley O’Keefe is a proud mother of three and a nurse, so she’s seen her fair share of children and health problems. So when her third child was born, she noticed right away that something wasn’t right. The baby boy, who she named Kieran, was having feeding difficulties. Nurses dismissed her concerns, stating that it was simply cleft palate and normal breathing irregularities seen in babies. Still, she persisted and started her own research into possible causes. It was then she discovered Pierre Robin sequence (PRS).

About Pierre Robin Sequence

PRS is a rare disorder that is present at birth and characterized by an abnormal mouth and jaw structure. Specifically, affected individuals have a tongue placed further back in the mouth, a cleft palate, and a small lower jaw. This leads to symptoms such as:

Trouble breathing
Respiratory distress
Feeding problems early in life
Failure to grow and gain weight at a normal rate
Repeated ear infections
Sleep disorders
- Ex: obstructive sleep apnea
Benign heart murmur
Pulmonary hypertension
- Note: this means high blood pressure in the arteries of the lungs
Pulmonary stenosis
- Note: This means narrowing of the opening between the lung artery and heart’s right ventricle
Anomalies in the musculoskeletal system
Eye defects

Medical professionals are unsure as to the exact cause of PRS, but they do know that the SOX9 gene plays a role in some way. Further research is needed into other genetic causes. In terms of treatments, options include feeding modifications, intubation, speech therapy, surgical intervention, and genetic counseling.

Kieran’s Story

After his mother discovered Pierre Robin sequence online (only a few days after her son’s birth), both of Kieran’s parents continued to do some digging. His father joined numerous Facebook groups related to the condition, which allowed them to reach out to other affected families.

The family’s next step was to take Kieran to the doctor, where they found out that his oxygen levels were too low to be safe. Because of this, the baby was taken to Children’s Hospital Colorado via ambulance. It was there they were introduced to an otolaryngologist, Dr. Francom, who took on Kieran’s case as soon as he heard about it. You see, Dr. Francom is a member of a team that specializes in children with PRS and cleft palate, making him perfectly suited for the situation.

After observing Kieran’s breathing difficulties, the doctor recommended a treatment strategy: a surgery called jaw distraction. At just eleven days old, Kieran underwent this surgery – alongside numerous other treatments afterwards – to help him breathe easily on his own and address other symptoms. It was a tough time with many hours spent in the NICU, but now he’s a thriving young boy! He can eat and breathe more easily, which has allowed him to grow and develop. In fact, his new favorite thing is hockey, which is exciting to his hockey-loving family!

In the end, PRS is a rare disease, and many affected children aren’t diagnosed until much later than Kieran was. If you notice these symptoms in your child, it’s important to ensure that it isn’t PRS. At the end of the day, a mother’s intuition is a powerful thing, so trust your gut if you think something is abnormal with your child.