“ Ending the diagnostic odyssey can provide clarity for families dealing with a rare disorder that can open a path to better management and even treatment . Genome sequencing made possible by the Alabama Genomic Health Initiative has provided this clarity and insight for dozens of families in our region who had been struggling for years to understand the cause of their or their child ’ s medical problems .”
— Bruce Korf , MD , PhD
test came back negative for Russell-Silver syndrome but did show two microdeletions on Rocklyn ’ s third chromosome , which put him at risk for early onset dementia and ALS . Given his age , the results were considered inconclusive , since these changes are not diagnostic and it would be many years in the future when any such conditions might develop . And they did not explain Rocklyn ’ s complex medical and developmental challenges . Rocklyn was enrolled in the Alabama Genomic Health Initiative whole genome sequencing cohort in early March 2020 to find answers .
The Diagnosis
Rocklyn returned to UAB Genetics in October 2020 for a review of his results and an additional clinical exam . Destiny was told that Rocklyn had a pathogenic variant for Noonan syndrome . The features of Noonan syndrome may vary from person to person and include feeding challenges , gastrointestinal issues , developmental delays , characteristic facial appearance , short stature , bleeding problems , and heart defects present at birth in some cases . There are established clinical guidelines for following patients diagnosed with Noonan syndrome , including surveillance and early intervention to help with developmental disabilities .
“ Ending the diagnostic odyssey can provide clarity for families dealing with a rare disorder that can open a path to better management and even treatment . Genome sequencing made possible by the Alabama Genomic Health Initiative has provided this clarity and insight for dozens of families in our region who had been struggling for years to understand the cause of their or their child ’ s medical problems .”
— Bruce Korf , MD , PhD
PARTICIPANT STORY – ROCKLYN PARTEN
Life After Diagnosis
Rocklyn still doesn ’ t have many words , other than “ mama .” He still has a feeding tube . He started walking at about 18 months of age , but due to low muscle tone , he wears foot and ankle braces for assistance . He recently was fitted for a soft helmet to keep him safe from falls .
Destiny understands that because Noonan syndrome varies so much from child to child , there are still a lot of unknowns . Since his diagnosis , Rocklyn has been seen by pediatric cardiology and nephrology , and thankfully he shows no signs of heart or kidney defects . Nevertheless , he will continue to be followed by specialists to ensure a proactive plan forward . For now , Destiny is focused on supporting early intervention for Rocklyn ’ s developmental delays .
Destiny shares that she is very appreciative to have an answer for her son ’ s complex medical issues . With the known diagnosis , she explains , “ He doesn ’ t really have all of these issues , he just has this one issue , and everything is related to that one issue .”
Destiny connected with other families through social media and has learned much from other parents on this same journey with their children . She is appreciative of the team of doctors caring for Rocklyn but says they don ’ t see the everyday struggles that she and other caregivers have , so the support of peers is important to her .
Destiny has a friend whose child recently was born with a heart condition . As soon as she saw a picture of the child , she suspected Noonan syndrome based on what she learned with Rocklyn ’ s diagnosis . She encouraged her friend to seek a genetic evaluation , which resulted in a diagnosis of Noonan syndrome as well . She feels confident that , because of Rocklyn ’ s diagnosis – made possible through the Alabama Genomic Health Initiative – she may have saved her friend from a long and challenging journey to diagnosis and answers for her child . aghi . org 9