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).
 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.
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.