STICKLER INVOLVED PEOPLE (SIP) PRESENTS THE STORY OF GRAHAM ELDER A CHILD BORN WITH STICKLER SYNDROME GRAHAM ELDER WHEN GRAHAM WAS BORN, HE COULDN'T MAKE EYE CONTACT. SOME SAID THERE WAS NOTHING TO WORRY ABOUT BUT GRAHAM'S PARENTS DISAGREED. 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) Graham’s parents may not have been aware of his hearing loss until Graham was much older. HIGH FREQUENCIES HEARING LOSS 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. Graham’s Hearing Test PARENT’S 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 didn’t see anything alarming with his vision, so this was put on hold for a very short period of time. 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. 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. THE JOURNEY T O GET A DIAGNOSIS WASN’T 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 part of being an advocate for your child." Amanda Elder, Graham's mom. SELF RESEARCH • Graham’s dad began his research online for genetic disorders. • Tim, eventually came across Stickler syndrome’s diagnostic criteria and shared this information with Amanda. 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. STICKLER SYNDROME AFFECTS MANY PARTS OF THE BODY: Eyes: Vitreous Anomaly Nearsightedness Cataracts Retinal Detachment Ears: Sensorineural or Conductive Hearing Loss Joints: Osteoarthritis SpondyloepiphysealDysplasia 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. Other: Fibromyalgia Knock Knees 11 PASSING ON INFORMATION The next morning Amanda emailed Graham’s Genetics doctor and outlined all of the signs for Stickler syndrome and which, of those signs, they were noticing in Graham. THE NEXT STEP So………… Graham met with a Pediatric Ophthalmologist a short time later. 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. STICKLER CLUES Even though Graham was not born with cleft and if he were to be diagnosed with high myopia, Genetics agreed that a DNA test for Stickler [syndrome] should be done. “Graham did have some of the more subtle facial features along with failing a newborn hearing screen which is potentially [Stickler] suggestive," said Dr. Kristin D'Aco, Pediatric Geneticist at Golisano Children's Hospital. STICKLER SYNDROME CONFIRMED Finally, Graham was diagnosed with Stickler Syndrome at four months of age. Stickler Syndrome is a connective tissue genetic disorder that in Graham's case, causes his hearing and vision loss. DIAGNOSIS IS OFTEN MISSED • Stickler syndrome is present at birth but, depending on the severity of symptoms, may not be diagnosed immediately. • It’s also frequently misdiagnosed or even left undiagnosed through adulthood because many people have very mild cases. • Additionally, a lot of patients are only diagnosed with one symptom and called, for example, arthritic or near-sighted. GRAHAM’S PARENTS GOT HIS DIAGNOSIS BY FOLLOWING THEIR INSTINCTS, RESEARCHING AND BEING PERSISTENT FOR ANSWERS. MOVING FORWARD • Stickler syndrome doesn’t affect one’s life expectancy, but it is a progressive condition, which means that symptoms may get worse with time. • There are many methods of treating those symptoms and, with help, those living with Stickler syndrome can live a healthy, happy life. NOW THAT THEY KNOW IT’S STICKLER SYNDROME AT THIS VERY EARLY AGE TIM AND AMANDA ELDER ARE GRAHAM’S ADVOCATES TO WATCH FOR EARLY DETECTION OF OTHER STICKLER SYNDROME SYMPTOMS AS HE GROWS OLDER AND TO SEEK ANY PREVENTATIVE CARE GRAHAM MAY NEED. THE ELDERS, JULIAN, AMANDA, TIMOTHY AND GRAHAM THIS IS ONE HAPPY CHILD! Graham at about ten months old GRAHAM’S FIRST BIRTHDAY!!!! Living his loving and normal life with Stickler Syndrome. STICKLER INVOLVED PEOPLE (SIP) • We are the official American Stickler syndrome support group. • Stickler Involved People (SIP) is a 501 (c)(3) organization whose mission is to educate and give support to people affected by Stickler syndrome. • This goal is achieved through a variety of activities, such as: periodic meetings including an annual conference, conducting educational activities, establishing working relationships with other organizations, communicating with public officials, and collecting and disseminating information concerning Stickler syndrome. STICKLER INVOLVED PEOPLE (SIP) OUR WEB SITE IS AN EXCELLENT SOURCE FOR STICKLER SYNDROME INFORMATION AND SUPPORT. WWW.STICKLERS.ORG/ SPECIAL THANKS TO: Timothy and Amanda Elder for Graham’s story and contributions to this slide show. Golisano Children's Hospital, Rochester, NY. Dr. Kristin D'Aco, Pediatric Geneticist at Golisano Children's Hospital. Music : “What Love Looks Like” - Copyrights: Kenna Turner West, Christian Taylor Music, BMI - Lee Black, Fairly Hopeful Music/Christian Taylor Music, BMI Pat and Bill Houchin, Co-founders and tireless contributors to the American (SIP) Stickler Involved People support group [not-for-profit 501 (c) (3)]. Rick Bishop, SIP member and creator of this power point. SIP LEGAL DISCLAIMER: Stickler Involved People (SIP) is not dispensing medical advice. We encourage you to take any information you find here to your physician, who knows you and your medical conditions best (including the ways Stickler syndrome has affected you). 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THANKS FOR WATCHING Remember: an early and correct diagnosis can make a huge difference in your child’s happiness and development. Be like Tim and Amanda Elder and get your answers with the help of your Doctors, do your own research, seek Clinical and/or DNA testing and be an advocate for your child throughout their life.