PARTICIPANT STORY
PARTICIPANT STORY – ROCKLYN PARTEN
DIAGNOSIS AND A PLAN FORWARD: ROCKLYN PARTEN
The Search
Rocklyn Parten was born a small but seemingly healthy baby, the fourth child in his family. But immediately, Rocklyn was not interested in nursing or taking a bottle. The usual suspects like acid reflux and infant allergies were quickly ruled out after removing dairy and trying various supplements. Rocklyn was not gaining weight. By four months of age, Rocklyn was seen at the Children’ s of Alabama gastrointestinal clinic, and at seven months of age he was hospitalized.“ I felt like I was watching my baby starve to death,” recalls Destiny Parten, Rocklyn’ s mom. Rocklyn had no energy and was missing major developmental milestones. After the placement of a feeding tube, Rocklyn quickly improved, began to hold his head up, and showed increased strength and muscle movement. With one medical challenge resolved, Destiny moved on to the next challenge. Rocklyn had failed 11 hearing tests and ultimately had tubes placed to drain fluid that had built up, causing hearing and speech delays. It was Rocklyn’ s pediatrician who noticed that Rocklyn’ s ears appeared to be lower than those of a typical child. This was the tipping point that led to a referral to UAB Genetics.
At Rocklyn’ s genetic evaluation, the initial suspicion was that he had Russell-Silver syndrome, a genetic condition associated with significant feeding difficulties, poor growth after birth, and motor and speech delays. The genetic
8 Alabama Genomic Health Initiative Annual Report 2020