Presentation on theme: "Stickler Involved People (SIP)"— Presentation transcript:
1Stickler Involved People (SIP) PRESENTS THE STORY OFGRAHAM ELDERA CHILD BORN WITH STICKLER SYNDROME
2GRAHAM ELDERWhen Graham was born, he couldn't make eye contact. Some said there was nothing to worry about but Graham's parents disagreed.
3One 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.
4HIGH 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
5Parent’s IntuitionStill, 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.
6Something 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.
7Graham 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.
8THE JOURNEY T O GET A DIAGNOSIS WASN’T AN EASY ONE "There are a lot of rare disorders that you justdon't know about until your child is affectedby one.Suddenly it changes your life andit really gives you a purpose and I think that'spart of being an advocate for your child."Amanda Elder, Graham's mom.
9Self ResearchGraham’s dad began his research online for genetic disorders.Tim, eventually came across Stickler syndrome’s diagnostic criteria and shared this information with Amanda.
10What 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.
11STICKLER SYNDROME AFFECTS MANY PARTS OF THE BODY: Eyes:Vitreous AnomalyNearsightednessCataractsRetinal DetachmentJoint SymptomsLoose & hypermobileEarly onset arthritisLong FingersScoliosis & Kyphosis Legg-Calve-PerthesOral/Facial:Cleft PalateBifid UvulaSmall ChinFlat CheeksFlat Nasal BridgePierre-Robin Seq.Ears:Sensorineural or Conductive Hearing LossJoints:OsteoarthritisSpondyloepiphyseal-DysplasiaChondrodysplasiaOther:FibromyalgiaKnock Knees1111
12Passing on information The next morning Amanda ed Graham’s Genetics doctor and outlined all of the signs for Stickler syndrome and which, of those signs, they were noticing in Graham.
13The next stepSo…………Graham met with a Pediatric Ophthalmologist a short time later.
14They 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.
15Stickler CluesEven 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.
16STICKLER 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.
17Diagnosis 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.
18Graham’s Parents Got his Diagnosis by following their instincts, researching and being persistent for answers.
19Moving forwardStickler 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.
20NOW 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.
22This is one happy child!Graham at about ten months old
23Graham’s first birthday!!!! Living his loving and normal life with Stickler Syndrome.
24STICKLER 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.
25Stickler Involved People (SIP) OUR WEB SITE IS AN EXCELLENT SOURCE FOR STICKLER SYNDROME INFORMATION AND SUPPORT.
26Special Thanks to:Timothy and Amanda Elder for Graham’s story and contributions to this slideshow.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, BMIPat 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.
27SIP 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).All the information on this power point is published in good faith and for general information purpose only. While every caution has been taken to provide the most accurate information and honest analysis, we do not make any warranties about the completeness, reliability and accuracy of this information. Any action you take upon the information on our website or this power point is strictly at your own risk and we will not be liable for any losses and damages in connection with its use.Please note that some of the articles and graphics on this power point and on our web site may be copyright protected and that all the trademarks are the property of their respective holders and you may download only one copy for personal use. Please be also aware that when you use web links and leave our website or power point, other sites may have different privacy policies and terms which are beyond our control.
28Thanks for WatchingRemember: 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.