future research and sharing of their data , additional research and clinical discussions around N ’ nekia and other similar cases continued for another four years . Through these efforts , N ’ nekia was one of 27 individuals worldwide to have a genetic variant in ZMYM3 linked to the neurodevelopmental delays he had experienced . Altogether , 24 of the 27 cases were male like N ’ nekia , and in most cases , the variant was inherited from the mother , like in N ’ nekia ’ s case . Almost all of the cases had a diagnosis of autism , like N ’ nekia , and behavioral concerns , and several had scoliosis , also like N ’ nekia .
The researchers at HudsonAlpha and Dr . Hurst felt confident that this was the answer the Gunns had been seeking for over 20 years . The results of this research were published in the American Journal of Genetics . Gunn recalls , “ I told N ’ nekia , ‘ You have made history . You ’ re walking history , and you don ’ t even know it .’ I don ’ t think he really grasps the gravity of what has happened by him participating in this study . This is real medical history , and I think it ’ s pretty cool .”
N ’ nekia is now 21 , and together with his amazing mother , they are working to improve his independent living skills and enjoying life together . N ’ nekia may be getting his first job soon , but until then , he and his mother serve their community by volunteering at a local food bank .
Gunn shares advice for other parents facing rare disease or a suspected rare disease . “ Never stop . I don ’ t care what people tell you , your children have a divine purpose just like everybody else ,” Gunn says . “ Your kids deserve the same quality of life as everybody else .”
The Alabama Genomic Health Initiative is grateful for the trust the Gunn family placed in our team to use their story and their data to help arrive at a diagnosis for N ’ nekia and the families of 27 others around the world . They truly have made medical history .
RARE BUT WITH A DIVINE PURPOSE : THE GUNN FAMILY aghi . org 13