Annual Report-AGHI 2020 | Page 10

PARTICIPANT STORY

PARTICIPANT STORY – ROCKLYN PARTEN

DIAGNOSIS AND A PLAN FORWARD : ROCKLYN PARTEN

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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