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Slide 2 STICKLER INVOLVED PEOPLE (SIP) PRESENTS THE STORY OF GRAHAM ELDER A CHILD BORN WITH STICKLER SYNDROME Slide 3 WHEN GRAHAM WAS BORN, HE COULDN'T MAKE EYE CONTACT. SOME SAID THERE WAS NOTHING TO WORRY ABOUT BUT GRAHAM'S PARENTS DISAGREED. GRAHAM ELDER Slide 4 ONE TEST GOT THE BALL ROLLING That test was the newborn hearing screening. That eventually led them to genetic testing at Golisano Children's Hospital, Rochester, NY. Without this test (which some States still do not require fortunately, New York State does) Grahams parents may not have been aware of his hearing loss until Graham was much older. Slide 5 HIGH FREQUENCIES HEARING LOSS Grahams Hearing Test After not passing about eight hearing tests of varying degrees, it was confirmed by an ENT and Audiologist that Graham has permanent hearing loss in both ears, specifically in the high frequencies. Baby Graham was fitted for two hearing aids. Slide 6 PARENTS INTUITION Still, Graham didn't appear to engage in a lot of eye contact, and his parents expressed that concern to the doctors and to put that on everybody's radar. In the beginning, Genetics and his Pediatrician didnt see anything alarming with his vision, so this was put on hold for a very short period of time. Slide 7 SOMETHING BIGGER? Throughout the process of checking Graham's hearing, his Pediatrician questioned if something bigger could be the reason these individual characteristics were being expressed. At graham's 2 month visit, his Pediatrician noticed he had distinct facial features and shorter arms than typical. She referred Graham to a Pediatric Geneticist to investigate potential genetic causes. Slide 8 GRAHAM ELDER HAS BEEN THROUGH MORE THAN MOST CAN IMAGINE. Graham's dad, Tim Elder, said that not knowing the cause of these problems with his son was the scariest part of it all. Slide 9 THE JOURNEY T O GET A DIAGNOSIS WASNT AN EASY ONE "There are a lot of rare disorders that you just don't know about until your child is affected by one. Suddenly it changes your life and it really gives you a purpose and I think that's it really gives you a purpose and I think that's part of being an advocate for your child." Amanda Elder, Graham's mom. Amanda Elder, Graham's mom. Slide 10 SELF RESEARCH Tim, eventually came across Stickler syndromes diagnostic criteria and shared this information with Amanda. Grahams dad began his research online for genetic disorders. Slide 11 WHAT IS STICKLER SYNDROME? Stickler syndrome is a connective tissue disorder, a genetic malfunction in the tissue that connects bones, eyes, ears and more. This disorder is associated with two or more of about 23 known symptoms including vision, hearing, bone & joint, facial and cleft palate. Slide 12 STICKLER SYNDROME AFFECTS MANY PARTS OF THE BODY: Eyes: Vitreous Anomaly Nearsightedness Cataracts Retinal Detachment Ears: Sensorineural or Conductive Hearing Loss Other: Fibromyalgia Knock Knees Joints: Osteoarthritis Spondyloepiphyseal- Dysplasia Chondrodysplasia Joint Symptoms Loose & hypermobile Early onset arthritis Long Fingers Scoliosis & Kyphosis Legg-Calve-Perthes Oral/Facial: Cleft Palate Bifid Uvula Small Chin Flat Cheeks Flat Nasal Bridge Pierre-Robin Seq. 11 Slide 13 PASSING ON INFORMATION The next morning Amanda emailed Grahams Genetics doctor and outlined all of the signs for Stickler syndrome and which, of those signs, they were noticing in Graham. Slide 14 THE NEXT STEP So Graham met with a Pediatric Ophthalmologist a short time later. Slide 15 They learned that Graham has high myopia (he is very nearsighted) and he received a prescription for glasses. He was just over three months old, and at this point had both hearing aids and glasses. Slide 16