EXTRAORDINARY KID
How the Diagnosis of an Extra X Chromosome Helped Mathew Find Himself
24
In a tunnel beneath Willow Park Drive in Parker , Colorado , along the Sulphur Gulch Trail , a series of five-foot tall painted hands spells out “ L-O-V-E O-T-H-E-R-S ” in American Sign Language against a deep , vivid backdrop of flowers : roses , daisies , lilies , lupines . It ’ s the vision of 16-year-old artist Mathew Fasone , who painted it with the help of a wellcoordinated group of volunteers over the course of about 223 man-hours in the summer of 2016 .
“ I ’ ve always liked tedious things that take a long time ,” Mathew says . “ I just think way too much , 24 / 7 . It helps me clear my mind .”
That pattern of racing thoughts probably has to do with Mathew ’ s Klinefelter syndrome , or XXY , the result of an extra X chromosome in his genetic makeup . Affecting about one in every 500 to 1,000 males , the syndrome can manifest in symptoms from hormone deficiencies to learning delays . Since he was very young , Mathew has struggled with speech and auditory processing , as well as dyslexia , attention deficit issues , and bouts with depression and anxiety .
“ He had gotten all these labels that didn ’ t make sense and people couldn ’ t put together ,” Susan , his mother , recalls . “ He felt very weird and alone .”
SHANLEE DAVIS , MD
Pediatric Endocrinologist
Mathew ’ s pediatrician began to suspect Klinefelter when Mathew was 15 . Mathew didn ’ t know it then , but the first and foremost clinic in the nation dedicated exclusively to children with his diagnosis was right in his backyard .
“ Here , we care for kids with sex chromosome aneuploidies from all over the country ,” says Shanlee Davis , MD , a pediatric endocrinologist with the eXtraordinarY Kids Clinic at Children ’ s Hospital
Colorado . “ Currently there ’ s no other place with this extensive interdisciplinary expertise .”
The eXtraordinarY Kids Clinic , launched 10 years ago by Founder and Director , Nicole Tartaglia , MD , combines endocrinologists , speech and occupational therapists , psychologists , and a genetic counselor to treat every aspect of sex chromosomal aneuploidies in children . For many years , it was the only clinic of its kind .
For Mathew and his parents , the team ’ s comprehensive evaluation of Mathew – and the way providers like Drs . Davis and Tartaglia explained it – connected his learning and emotional challenges to XXY in a way that finally made sense . An accomplished artist at 16 , a high achiever , and an Eagle Scout , Mathew has never been one to take his challenges lying down – but the tools to address them head-on have gone a long way toward helping Mathew overcome them .
He ’ s paying that gift of understanding forward : Almost immediately he enrolled in a study that examines cardiometabolic function in boys with XXY toward an increased understanding of the syndrome ’ s heightened risk of type 2 diabetes , one of the many aspects of aneuploidy the clinic investigates .
Meanwhile , the structure and success of the clinic itself is guiding the modeling of similar clinics nationally . With support from AXYS , a network of families and professionals dealing with aneuploidies , clinics based on the eXtraordinarY Kids model are slowly opening at other children ’ s hospitals throughout the country .
“ Participating in the clinic has made Mathew feel more self-empowered ,” Susan says . “ He has a better idea of who he is and why he is the way he is .”
“ It feels cool , being 1 in 500 to 1000 ,” he agrees . “ You have to accept yourself , and not just fit in with everyone else .”
It ’ s safe to say Mathew is doing exactly that .