Fall 2013 - Eastern PA Down Syndrome Center

Fall 2013
In This Issue
Buddy Walk Success
Another great year for the
Lehigh Valley Budy Walk.
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News & Evnts
Find out what’s been
going on with the EPDSC
and friends.
4
Does Your Child Need A
Guardian
What does a guaardian
do? What needs to be
considered?
8
More Important Cure
Than Down Syndrome
A parent’s response to
current research and
a possible cure.
9
Celiac Disease Facts
What to look for and
when to test for a
gluten intolerance.
10
Mark Your Calendars!
Make sure to RSVP for
the upcoming EPDSC
holiday party.
12
Remembering
Dr. Sig
Pueschel
We are sad to announce that Dr.
Siegfried M. Pueschel, the pioneering
developmental pediatrician and friend
to many in our community, passed
away last night. He was battling
prostate cancer.
In the 1970s, while at Children’s
Hospital Boston, Dr. Pueschel
became the Director of the first
comprehensive Down syndrome
Program in the country, where he
worked alongside another giant,
the late Dr. Allen Crocker. He also
served as a lecturer on pediatrics
at Harvard Medical School. In 1975,
Dr. Pueschel went on to direct the
Child Development Center at Rhode
Island Hospital in Providence. In all,
he authored or co-authored 15 books
and 250 scientific articles.
Dr. Pueschel’s career was shaped
in large part by one particular
personal event. In 1965, his wife
gave birth to a son, Christian, who
had Down syndrome (Dr. Pueschel
made the diagnosis himself): “After
the initial traumatic experience,
our sadness and concerns were
soon transformed into joy and true
happiness,” Dr. Pueschel said in
speech during the 1999 NDSC Annual
Awards Banquet in Pittsburgh. “His
smiles and his pleasant personality
conquered our hearts, and thus we
started to celebrate Chris’ life.” (Read
more from that speech below).
In the late 1960s, having
completed his medical residency
at Montreal Children’s Hospital in
Quebec, Dr. Pueschel was asked to
come to the U.S. to work on disability
policy at the Harvard School of
Government. When his application
was rejected because of his son’s
disability, Dr. Pueschel recruited the
support of the late Sen. Ted Kennedy.
Filmmaker Melanie Perkins
McLaughlin interviewed Dr. Pueschel
about the incident for an upcoming
documentary. Not only did Dr.
Pueschel and Sen. Kennedy fight
to override that particular injustice,
McLaughlin said, but when he arrived
in the U.S. “one of the first things
CONTINUED ON PAGE 3
the
EPDSC
Board of Directors
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Letter from the President
Kevin Neiley
Mike Carney
Chris Farrell
Nicole Geloso
Steve Neary
Teresa Romano
Bobby Lanyon
Jason Anderson
Jen Burd
Anita Ellsberry
Michelle Levene
Kathi Eichman
Hello Friends,
Officers
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Mike Carney, President
Bobby Lanyon, Vice President
Steve Neary, Treasurer
Kevin Neiley, Asst. Treasurer
Jen Burd, Secretary
Staff
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Don Levick, M.D., MBA, Medical Director
Renee Morrow-Connelly, D.O. Pediatrics
Scott Rice, M.D., Pediatrics
Amy Healy, MS, OTR/L
Andrea Meeker, MS, OTR/L
Kelly Nelson, MS, OTR/L
Patti Mertz, Center Coordinator
Maria Floryshak, Center Coordinator
Anne Marie Dolinish-Meltzer, RN,BSN,
Clinic Consultant
Claire Dainese, Office Assistant
Sherrill Cormack, Newsletter Editor
Diana Santoro, Newsletter Design
As the holiday season approaches, we are reminded of all we
have to be thankful for. Over the several years that I have been a
part of EPDSC, I have found that one of the many great perks is
getting to meet so many wonderful people from all walks of life.
Educators, doctors, parents and business professionals have all
taught me one thing or another about Down syndrome.
I often look at the pioneers who paved the way for us and
wonder, “Where would we be today if they had not pushed
tirelessly forward to open more doors for their child with special
needs?” We have all read about and seen these parents. They
have accepted the challenge to fight for what is right for their
child. What may have seemed to be an act of selfishness for
their own child, has made a positive change to what is expected
from us as parents and what is expected from our child with
special needs.
It is these parents that EPDSC relies on to strengthen the
world our kids live in and we as “newer” parents owe these
leaders a sincere amount of gratitude. We cannot be silent or
expect that others will advocate for our children. It is up to us to
refuse “no” as an answer and to avoid the easier path. David did
not back down from Goliath, Rocky beat Apollo Creed, and we as
parents to a child with Down syndrome can break down barriers.
Let’s ask ourselves, “What else can I do to help my loved one
with DS achieve their goals?” Let’s expect more, look past the
“limitations” and plow forward. EPDSC is the resource for us to
make this happen.
Throughout 2014, EPDSC will host a series of events themed
with the idea of abilities. We will having our first 5K fundraiser:
“True Colors 5k”, and an awareness campaign: “No limits, above
the line of expectations.” Join me in making this our best year
yet and maybe someday, we’ll be called leaders.
Mike Carney
President, EPDSC
CONTINUED FROM PAGE 1
Sig did was to work with Ted Kennedy to change the
law and allow people with disabilities to emigrate to
America.”
On August 9, 1998, at the age of 33, Chris died.
He had lived “a fulfilled and prolific life,” Dr. Pueschel
said. A few hours after Chris’ passing, in what he
called “the most arduous and painful task in my
life,” Dr. Pueschel stood in front of an audience at
the NDSC’s Annual Convention to present a plenary
session.
Dr. Pueschel was renowned for his work ethic
and his deep connection with people with disabilities
and their families. He was also an avid adventurer.
Ken Bell, a TV sports director in Rhode Island
traveled with Dr. Pueschel to Mexico on a mission
trip.
“He set up a clinic and he saw hundreds of
people,” Bell told the East Greenwich Patch. “He
wouldn’t eat. He didn’t want to take a break. He loves
people and he has such a connection with people
with Down syndrome.” As the Down syndrome
movement looks to the future, we hope you will join
us in remembering Dr. Pueschel, a founding father
who paved the way for where we are today. He will
be missed!
Lehigh Buddy Walk: Another Great Success
“This year’s Buddy Walk was a huge success! Thank you
to everyone who came out to support Down syndrome
awareness. The Buddy Walk raised over $73,000 and
there were a record-number 1,100 walkers for the day.
I would like to give a special thanks to the Buddy
Walk committee which includes Jen Burd, Kathi
Eichman, Michelle Levene, Maria Floryshak, Steve
Neary, Liz DeSantis and Chris Farrell. This event is such
a large, organizational and logistical feat, that without
these people it would not happen.
Also, a big thank you to the many volunteers that
joined us. There were over 60 volunteers that helped
from set up to tear down. Their enthusiasm, stamina and
willingness to assist with the many tasks helped make
the day run smoothly.
The Buddy Walk is becoming one of the most
popular walks in the Lehigh Valley and we are thankful
to you for your support. Special thanks to the advocacy
groups and vendors that attended the Buddy Walk
sharing their community support for the EPDSC and
individuals with Down syndrome.
So, what happens with all that money? The EPDSC
will be sending a portion of the proceeds to the National
Down Syndrome Society as part of our partnership
with them to further advocacy for the Down syndrome
community. On a local level, these funds will go to
support new parents and the New Parent Support Group
meetings, and go to the operating fund for the medical
portion of EPDSC.
Next year’s event will be on Saturday, September
27th, 2014. This will be the 15th Anniversary for the
Lehigh Valley Buddy Walk and we are already planning
for an extra special celebration.
How can you help? Our biggest need is that we are
looking for businesses to sponsor next year’s event. If
you can help, please email [email protected].
Thank you and see you at the walk!
Bobby Lanyon”
PS. Please support the local businesses that helped
sponsor the walk or donated towards the raffle.
Thank You To Our Buddy
Walk Sponsors And Corporate
Donors!
Sponsors:
1760 Pub~N~Grille, Good Shepard, Outback Steakhouse,
Amanda Armetta Gring (South Hill Designs), Green Mountain
Coffee, Oxyfit Gym, America on Wheels, Hair Plus, Putt U
Miniature Golf, Angela Weller (Thirty-One Consultant), Hilton
Garden Inn, Queen’s New York Style Deli, Antler Ridge Winery,
Hinnerschietz Recon Inc, Reading Royals, Armetta’s Grand
Jete Studio of Dance, Holiday Hair, Salvatore Pizzeria, Auto
Zone, Hub Willson Photography, Scott Family of Dealerships,
Bear Swamp Diner, Italiano Delite, Shady Maple Farm Market,
Bieber Tourways, Judi’s Classy Crafts, Starlite Café Diner,
Blackman’s Cycle Center, Karen Soffa (Thirty-One Consultant),
Sunset Grill, Bonefish Grill, Kimberly Riley (Our Hearts Desire
Consultant), Sweet Frog, Butch Patrick “Eddie Munster,”
Lehigh Valley Zoo, TD Bank, Carrabba’s Italian Grill, Logan’s
Roadhouse, Texas Roadhouse, Cracker Barrel, Macungie Pool,
TGI Fridays, Emmaus Lioness, Mark’s Sandwich Shop, The
Market Café, Feld Entertainment, Master Supply Line, Tony’s
Italian Restaurant and Pizzeria, Fiesta Ole, Meghan Marie
Photography, Tracie Muniskey (Noah’s Ark Animal Workshop
Consultant), Freckle Face Fudge, Menchie’s, Wheels of Time
Friendly’s (Trexlertown, Dorneyville), Natures Source,
Whitetail Golf Club, Giant (Trexlertown, Tilghman Street),
Olive Garden, Weis Markets (Macungie, Emmaus, Kutztown,
Schnecksville), Asbury United Methodist Church, Philadelphia
Eagles, Philadelphia Flyers, Java Joint, Lehigh Valley Sporting
Clays
Corporate Sponsors:
Lehigh Valley Financial Group, O.R.E Rental, Air Products,
Bethlehem Gallery of Floors, Brian J. Wittig Memorial
Enrichment Fund, Pepsi, Herr’s, Hershey’s, PPL Energy Plus,
Allentown Family Foot Care, Capital Blue Cross, Freeze Frame
Photobooth
3
News & Events
National Night Out
National Night Out was celebrated in Upper Macungie
Township on August 6th. The EPDSC was on hand to share
in this community event. National Night Out is a wonderful
opportunity for communities nationwide to promote
police-community partnerships, crime prevention, and
neighborhood camaraderie. While the one night is certainly
not an answer to crime, drugs and violence, National Night
Out represents the kind of spirit, energy and determination
to help make neighborhoods a safer place year round for
all individuals.
New Parent Support Group
Fall Activity
Families and friends enjoyed a Hayride,
pumpkin patch, corn maze and petting zoo
at the Unangst Tree Farm in Bath, Pa. on
Saturday, October 19th.
Comprehensive gynecology care for female teens with special needs
Through a grant by the Anderson Trust, Dr.
Andrea Waxman is providing comprehensive service
and continuity of care for special needs female teens
focusing on gynecology and social work services.
The services are for adolescents up to age 21.
Gynecology services offered are for consumers
with Autism, cerebral palsy, impaired intellectual
functioning, developmental and behavioral
challenges, visual impairments and those who are
deaf. Dr. Waxman caters to each patient’s individual
needs.
Services offered: Assistance and education
with contraceptive management, breast exams and
management of menstrual disorders.
Service hours are on Tuesday afternoons. Please
call Amy for more information or to schedule an
appointment at 610-398-7848.
Adolescent Women’s Health Screening & Education
Dr. Andrea Waxman’s office
400 N. 17th Street Suite 202
Allentown, PA
Reach for the Stars, Berks County
2nd Annual Buddy Walk
News & Events
Reach for the Stars 2nd Annual Buddy Walk, held
at Daniel Boone High School, in Birdsboro, PA, was
an inspirational, sunshine filled, day! Just about
600 attendees walked proudly for their respective
teams. Our financial goal of 35 thousand dollars
was exceeded, but more importantly, the entire day,
no matter where you turned, people were smiling!
Joy floated through the stadium that afternoon.
Our Guest of Honor was the beautiful Ashley
DeRamus. Ashley, and her lovely mother, Connie,
travel the country sharing the mission of The
Ashley DeRamus Foundation; The Ashley DeRamus
Foundation was founded for and dedicated to the
education, advancement and quality life-style of
children and adults with Down syndrome. Through
the work of Ashley and the foundation, our goal is to
increase the awareness and enlighten others about
the rewards and positive contributions we make.
I invited Ashley, who resides in Alabama, to our
Buddy Walk because I had read that she wanted
to lead the Pledge of Allegiance/sing The National
Anthem in all 50 states. She accepted the invitation,
and Pennsylvania was the twenty fourth state she
checked off her list.
I have never been so proud to introduce
someone as my friend, as I was that afternoon! She
greeted our crowd, led the pledge, sang the anthem
and spoke with confidence! She left everyone with
this quote: “ Don’t ever let anyone tell you what
you can’t do, show them what you can do”. If you
would like to read more about Ashley and what
she has done(Some of her accomplishments at a
glance: Ashley has her own line of clothing, Ashley
by Design; she has 43 Special Olympic swimming
medals; Ashley has addressed the United Nation
Speakers Corner; She has starred in her own video
with Jason Crabb titled “LOVE IS STRONGER”; she
was honored on a Disney blog, Babble, as one
of the six most inspirational entrepreneurs in the
world), please visit www.ashleyderamusfoundation.
org
I would like to thank Maria Floryshak, Bobby
Lanyon and the Eastern Pennsylvania Down
Syndrome Center for supporting Reach for the Stars
and our mission to encourage interaction between
the people of Berks County and our Down syndrome
community. Many thanks to Daniel Boone High
School and it’s community for embracing Reach for
the Stars! I would also like to commend all of our
families who participated in the walk and helped us
raise funds so we can provide services, supports,
and social activities for our children, young and old.
Lastly, thank you, Michele, my friend, for caring
enough about Joe Joe and his buddies, to go on
this journey with me to make sure we give as many
individuals with Down syndrome the opportunity to
Reach for the Stars!
Mark your calendars for our 3rd Annual Buddy
Walk at Daniel Boone High School, Birdsboro, PA on
Sunday October 12, 2014.
~ Nicole Geloso
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Lehigh Valley EPDSC
2013 Buddy Walk
7
DOES YOUR CHILD NEED A GUARDIAN?
Guardianship (known as conservatorship in some
states) is the legal right given to one person to protect
and manage the personal care, or finances, or both, of
another person. The person needing help is called the
ward; the person who helps is called the guardian. A judge
has to decide that the ward is unable to make decisions
independently.
In some states, the term “guardianship” is used in
reference to personal care, and “conservatorship” limited
to finances. Or the terms may be “guardianship of the
person” and “guardianship of the estate.” It’s important to
understand that laws and terminology vary from state to
state, and that legal assistance is always necessary to set
up these arrangements.
What Does a Guardian Do?
The powers and duties of a guardian will depend on
individual circumstances. Personal care might involve
deciding where the ward will live, and arranging for
meals, transportation, clothing,
personal care, recreation,
and health care. Financial
care might involve making a
budget, paying bills, investing
money, collecting income, and
protecting assets. Some adult
children may be able to take
care of their personal needs,
but have difficulty managing
money. Or they might need
help making medical decisions.
Letters of Guardianship will
explain what the guardian has
the authority to do.
Who may serve as a
guardian?
A parent may be the best
choice, or another relative or
a friend. Guardianship is a big
responsibility, so it’s important
to choose a person who’s willing and able. A special-needs
child may have a loving brother or sister, but if that person
is far away, or overburdened with other responsibilities,
he or she may not be a good choice. It’s never wise to
pressure anyone into undertaking such an important
position as guardianship or conservatorship.
Sometimes, the responsibilities may be shared by two
people. One person may be appointed to take care of the
personal needs, and another person, the finances. If a
friend or relative is willing to serve, but is uncertain about
having the financial expertise to do so, he or she may
be appointed jointly with a bank or other institution. If
no friend or relative can be found, a private professional
guardian or a public agency may be appointed.
When to Start Thinking About It?
It’s never too early for a parent or caregiver to
consider the issue of guardianship. Naming a guardian or
conservator may be done in a will. Naturally, the person
named would still have to take all the steps to be approved
by a judge.
What Are Some Issues to Consider?
A guardianship will necessarily mean a lot of
involvement with the legal system. First of all, the
guardian may have to account to the court periodically
about the status of the special-needs individual and the
management of the assets. Secondly, he or she may
be legally responsible for some of the actions of the
ward. For example, if the ward causes a car accident,
the wisdom of the guardian in allowing the person
to drive may be examined. Finally, every time the
guardianship is questioned or changed, it must be done
through the courts.For medical management purposes,
a guardianship is good. Regulations outlined in HIPAA
(the federal government’s Health Insurance Portability
and Accountability Act of 1996) are very stringent now. If
children have the inability to communicate effectively, a
guardianship may be the only way to protect them, and the
only way to insure that parents have access to information
which is otherwise private. If a special-needs adult is
receiving government benefits, such
as Medicaid and SSI, and has no other
assets to manage, a conservatorship
of the estate may not be necessary. If
family and friends want to give gifts to
the child, they can be put in a specialneeds trust which can be set up to pay
for items and services beyond the bare
necessities that government programs
provide. No supervision by the court is
necessary.
Use Your Support Network!
A team approach is best, with
family members, caregivers, teachers,
social workers, lawyers, and financial
services professionals all working
together to create the best possible
future for the special-needs child.
Thinking about a guardianship or a
special-needs trust may be a difficult
step. Basically, you are declaring a
child incompetent. Many parents and caregivers don’t
want to classify or “brand” their child. But the time
to start planning is as soon as you identify the need.
The information provided is not written or intended as
specific tax or legal advice and may not be relied on
for the purposes of avoiding any Federal tax penalties.
MassMutual, its employees and representatives are not
authorized to give tax or legal advice. Individuals are
encouraged to seek advice from their own tax or legal
counsel.
Provided by Robert D. Touzeau, a SPECIAL CARE
PLANNER with Lehigh Valley Financial Group
courtesy of Massachusetts Mutual Life Insurance
Company (MassMutual)
3701 Corporate Parkway, Suite 320, Center Valley, PA
18034
(610)798-2567
[email protected]
There Are More Important Things to Cure
Than Down Syndrome
In August of this year, a scientist at the
University of Washington presented a new study on
the possibilities of removing the extra chromosome
that causes Down syndrome. A subsequent study
discusses the chance of curing Down syndrome
with a chemical component after proving its
effectiveness with lab mice created with a genetic
abnormality that is similar to Down syndrome. In
both cases studies are only thatexperiments tested on the brains of
mice whose genes have been altered
to represent the condition of life
with an extra chromosome. These
kinds of investigations take years,
perhaps decades, and they still need
to analyze the secondary outcomesor side effects-of these treatments,
especially the impact they can have
on the physical health of individuals
with Down syndrome. I don’t have
a medical background, so this is
my understanding as a parent reading about the
studies.
All this exciting news makes people react in
ways that, while logical (I guess), still surprise me.
They take for granted that people like me would
be jumping up and down with excitement. But
these are the same people who still believe there’s
no joy or satisfaction in raising a child with Down
syndrome or special needs.
I am the perfect target for all kinds of comments,
as I am a mother of two children with Down
syndrome and I also work as an advocate and
educator. So people just assume I’m enthusiastic
about these potential “cures.” But to be honest,
while I think the news is great, it’s just not that
important to me.
I would be much happier if science could find
a cure for the following conditions, to relieve the
suffering of children and the desperation parents
feel when:
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They tell you that your child was born with a
heart defect, and you feel your own heart hasn’t
worked right since that moment.
The doctor warns you about your child’s blood
disorder, and the news makes you want to take
your own blood out of your body and trade it
with your son’s.
When you spend days and nights in a hospital
chair asking God to give you strength to breathe,
and love and faith to empower your child to fight
and to never give up.
The feeling of absolute failure and hopelessness
when you can’t afford to pay for a good
doctor or specialist, or for that therapy that’s
not covered by your insurance-if you have
insurance, that is.
These are the things that I wish we could
cure. The challenges I face with my kids’ learning
and development? Those don’t afflict me. To me,
those are slow triumphs that we all learn to love
and accept without comparing them to
any other kids. I’m not perfect, so why
should I expect my children to be so?
Yesterday, someone said to me,
“I’m sure you’re happy with that cure
for Down syndrome. After so many
years fighting, finally something good
happens for these people.”
My response was: “The truth is that
my children are very healthy at this
time. They are not ill at all. After three
really bad months with asthma, Emir is
doing great and is back to his normal
routine. Ayelén has always been very healthy.
So no, I’m not looking for a cure; and they look
healthy to me.”
The “battle” with Down syndrome is
misunderstood by many. We don’t fight our
children’s Down syndrome; instead, every parent
fights every day to give their children the respect
and the opportunities they deserve. That’s it.
I do not want to heal my kids. I want to cure
the world of prejudice. Then, there would be more
opportunities; more educators ready to understand
how easily adaptations can be when they are
willing to work together with parents. Then, more
companies would understand that behind the
myths of the slowness and stubbornness, there
are loyal human beings-dedicated and structured
people ready to show who they are and what they
can do when they are welcomed with trust and
tolerance.
If we can create a cure for Down syndrome,
perhaps it would be very positive for the new
generations of children born with the condition. It
may create a different future for those who come
into life. But in my case, with two children aged 9
and 6 years, I do not believe in chemical miracles
to improve who they are. Because for me, they are
the real miracles.
For now, as parents, we must continue
educating the world with the cures we already
have-our dedication to and faith in our children,
using our voices, our love and our joy. Above all,
it’s free, and it’s organic!
-By Eliana Tardio
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Celiac Disease Facts for People
with Down Syndrome
The Center has received many inquiries about
Celiac Disease lately. Families are asking about the
frequency of testing, what symptoms to look for,
and how changes in behaviior may be related to a
sensitivity to gluten. This article addresses some of
those questions. We hope to include some personal
family journeys dealing with Celiac disease in future
issues.
What is Celiac Disease?
Celiac disease is a genetic
disease. That means
most people must have a relative
with Celiac
disease to get it. People with
Down syndrome can
have the gene for Celiac disease
even if no one
else in the family does. Active
Celiac disease
damages the gut and makes it
hard for a person’s
body to absorb nutrients from
the food they eat. To develop
Celiac disease:
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A person must have the
gene.
The gene must be active, or
“turned on.”
A person must eat foods that contain gluten.
These three things are true whether or not a person
has Down syndrome. Research tells us that 4-16% of
people with Down syndrome will also develop celiac
disease compared to 1% of those who do not have
Down syndrome. Between 16,000 – 64,000 people
with Down syndrome have Celiac disease.
How do I know?
The 1999 Health Care guidelines for People with
Down Syndrome suggest screening children with
Down syndrome for Celiac disease at age two
and keeping a watchful eye for signs of Celiac
diseaseafter that. In 2011, the guidelines published
in the journal Pediatrics, does not recommend
screening at any age, unless there are symptoms.
This means keeping your eye out for symptoms
and asking for screening when it’s a possibility. The
problem is that symptoms of celiac disease in people
with Down syndrome could be just about anything.
Take this fact sheet with you so your
physician can see the range of possible symptoms
seen in people with Down syndrome.
What are the symptoms?
--> Some symptoms of Celiac disease include:
--> Frequent diarrhea
--> Constipation
--> Vomiting
--> Unexpected weight loss or a reduced rate of growth
despite good calorie intake
--> Excessive gas (often very smelly)
--> Abdominal pain
--> Smelly stools that float
--> Anemia
--> Lactose intolerance
--> Reflux
--> Irritability and behavior changes
--> “Regression” in skills
--> Classic signs of malnutrition
--> Changes in sleep
--> Headaches or migraines
--> Fatigue
--> Dark circles around the eyes
One symptom specific to people with
Down syndrome is a regression in skills
or change in behavior. Many times it is a
change in behavior
that is the first clue that something is
wrong. Keep in mind, this is not the only
reason behavioral changes happen.
What is the screening?
Screening should be done if Celiac disease is a
possibility. This means doing some blood tests. The
most common blood tests used to screen for Celiac
disease are:
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Anti-tissue transglutaminase (tTG-IgA)
Serum IgA
Anti-endomysial antibody (EMA-IgA)
Deamidated gliadin peptide (DGP)
A negative result from these blood tests probably
means that Celiac disease is not active. These
blood tests are often called a Celiac Panel. They
can be ordered by any doctor. A positive result
means that a biopsy will be suggested to confirm
the diagnosis. The procedure done to confirm
Celiac disease is an endoscopy. It is done by a
gastroenterologist. To do an endoscopy, a tube
is passed down the person’s throat to the gut to
clip a small piece of the lining in the intestine. The
appearance of this piece of lining will tell the doctor
whether or not the person has Celiac disease.
Genetic Testing for Celiac Disease
It is possible to test for the genetic markers for
Celiac disease. The genetic tests look for two
specific genetic markers: HLA-DQ2 and HLA-DQ8.
These genetic markers mean it is possible for a
person to develop Celiac disease. If they are not
found in the sample, they will not develop Celiac
disease. Genetic testing is expensive. It is also not
foolproof.
What is the Treatment?
The treatment for Celiac disease is a gluten-free
diet. A gluten free diet means removing any wheat,
barley, and rye from the diet and using products
with oats that are certified to be gluten-free. The
good news is that gluten free foods and restaurants
are popping up everywhere!
What should I do?
The best thing you can do is keep your eyes and
ears open for the signs and symptoms listed above.
When in doubt, ask your child’s doctor about doing
a Celiac panel. Follow your gut – or your child’s gut.
For More Information:
• Gluten Intolerance Group (GIG) (Gluten.net)
• Celiac Disease Foundation (Celiac.org)
• American Celiac Disease Alliance
(AmericanCeliac.org)
• Down Syndrome: Health (DS-Health.com)
• The Wellness Walk (JoanMedlenRD.com)
• Health Supervision for Children with Down
Syndrome (http://bit.ly/19qLEhd)
• Health Care Information for Families of Children
with Down Syndrome (http://bit.ly/1fvHHgp)
Joan Guthrie Medlen, MEd, RD is the CEO of Phronesis
Publishing and the creator of The Wellness Walk: Taking Steps
to Quality Health. Wellness Walk Talk and Wellness Walk Talk
Fact Sheets are tools to promote quality health and quality
lives for people with Down syndrome, related disabiltiies,
and those who support them. Joan lives in Oregon with her
husband and adult son who had Down syndorme and autism.
References:
• Lewey, S. Ten Facts about Genetic Testing. www.Celiac.
com. Retrieved May 15, 2012 from www.celiac.com/
articles/21567/1/Ten-Facts-About-Celiac-Disease-GeneticTesting/Page1.html
• Medlen, J. The Down Syndrome Nutrition Handbook: A
Guide to Promoting Healthy Lifestyles, 2006. Phronesis
Publishing. www.DownSyndromeNutrition.com.Chicoine,
B. McGuire D. The Guide to Good Health for Teens and
Adults with Down Syndrome. 2010. Woodbine House.
• Book, L., Hart, A., Black, J., Feolo, M., Zone, J.,
Neuhausen, S.L. “Prevalence and Clinical Characteristics
of Celiac Disease in Downs Syndrome in a US Study.”
American Journal of Medical Genetics. Vol. 98, 2001, pp.
70-74.
• Gale, L., Wimalaratna,H., Brotodiharjo, A., Duggan, J.M.
“Down’s Syndrome is Strongly Associated with Ceoliac
Disease.” Gut. Vol. 40, 1997, pp 492 – 496.
• Boyd, C. “Special Need, Special Diet. Understanding the
link between Down syndrome and Celiac Disease.” Living
Without Magazine, June/July 2011. pp24-30.
NIH launches first national
Down syndrome registry
Registry connects families and individuals with Down
syndrome to researchers.
The National Institutes of Health has launched
DS-Connect, a Web-based health registry that will serve
as a national health resource for people with Down
syndrome and their families, researchers, and health
care providers.
“The Down syndrome community has voiced
a strong need for a centralized, secure database to
store and share health information. DS-Connect
fills that need, and helps link individuals with Down
syndrome to the doctors and scientists working to
improve their health and quality of life,” said Yvonne T.
Maddox, deputy director of the NIH’s Eunice Kennedy
Shriver National Institute of Child Health and Human
Development (NICHD), which funded and developed
the registry.
Participation in the registry is free and voluntary.
Individuals with Down syndrome, or family members,
on their behalf, may sign up to create personalized
profiles with information about their health histories,
including symptoms, diagnoses, and medical visits.
The website has been designed to ensure that all
information remains confidential. The site will separate
users’ names from their health information, so that
individuals may compare their health information with
that of all other participants in an anonymous manner.
If participants give permission to be contacted,
the registry coordinator can inform them of research
studies in which they may be interested. Results from
these studies will help researchers better understand
Down syndrome and how to treat its accompanying
health problems across the lifespan.
“DS-Connect is for people of all ages, not just
children,” said Dr. Maddox. “Right now, we don’t
have much data on older individuals with Down
syndrome, and that’s been a problem. People with
Down syndrome are living longer, and researchers
and physicians will require information about the
health issues and needs of these individuals to make
recommendations about their health care.”
The Down Syndrome Consortium, a public-private
group established in 2011 to foster the exchange of
information on Down syndrome research, will be a
critical player in helping to disseminate information
about the registry to the Down syndrome community.
The consortium includes individuals with Down
syndrome and their family members, representatives
from professional societies and advocacy groups, and
NIH scientists.
“We’ve been fortunate to have so many experts
and advocates provide input on this effort,” said
Dr. Maddox. “The establishment of this registry is
a tremendous step forward for Down syndrome
research, and the resource will become all the more
beneficial as more individuals join in the months and
years ahead.”
Note: NIH has applied for trademark protection for
the name “DS-Connect.”
11
Mark Your Calendars
** SAVE THE DATE **
The 1st Annual True Colors 5K
IT’S TIME TO “SAVE THE DATE” FOR THE
EPDSC’S ANNUAL HOLIDAY PARTY!
Santa’s Already Starting to Check His List...
Date: Saturday, December 7th
Time: 10:00am - 12:30pm
Place: The Marian Inn at Our Lady of Perpetual Help Church, 3221 Santee Road, Bethlehem, PA
18020 ** NEW VENUE THIS YEAR **
Check your email inbox for additional
information. Hope to see you there!
PO Box 60
6900 Hamilton Boulevard
Trexlertown, PA 18087
Contact Us
Phone:
Fax:
Email:
Web:
610.402.0184
610.402.0187
[email protected]
www.epdsc.net
The 1st Annual True Colors 5K will be held in
the Spring of 2014. We are very excited to introduce
this new and exciting event to the EPDSC calendar.
All proceeds will benefit the EPDSC and the Down
Syndrome Research and Treatment Foundation.
We are forming the committee now and are in need
of volunteers! Please contact Wendy Carney if you are
interested in helping out: [email protected]
2014 Annual EPDSC Conference!
Lehigh Valley Hospital
I78 Cedar Crest Blvd.
March 8th, 2014
Details to follow