SHD Reun 312 - Shodair Children's Hospital

There, the Champions will also tour the White
House and are tentatively scheduled to meet
President Obama. In addition to the White House
visit, the Champions will have a chance to visit
with their senators and representatives during a
luncheon on Capitol Hill.
From Washington, DC, Samantha, her family, and
the other Champion children will fly to Orlando,
where they will take part in the annual Children's
Miracle Network Hospitals Celebration. These
special ambassadors and their families will be
treated like royalty by Walt Disney World and
enjoy free access to all the resort's theme parks.
Samantha and the other special champions from
all 50 states and Canada represent children's
health care needs and hospitals that provide
critically-needed care to numerous young patients
every day. Children's Miracle Network Hospitals,
the alliance of premier hospitals for children, is a
non-profit organization dedicated to saving and
improving the lives of children by raising funds
for children's hospitals across North America.
Shodair has served the needs of Montana's
children for 116 years, and is one of the 170
premier children's hospitals included in the
Children's Miracle Network Hospitals alliance.
It is Montana's only Children's Miracle Network
Hospital, and the only facility in the state to offer
both residential and acute psychiatric treatment in
one location. In addition to specialized psychiatric
care for Montana children and adolescents,
Shodair provides comprehensive medical genetic
services to patients of all ages throughout the state.
You can support Shodair and Children's Miracle
Network Hospitals by contributing to the “May is
For Miracles” fundraising efforts of national
sponsors like Walmart, Sam's Club, and Costco.
And, be sure to watch the Shodair/Children's
Miracle Network telethon on your local Montana
CBS television station on Saturday, June 2
beginning at 4:00 pm. You'll learn more about
Samantha's inspiring story and her Shodair team.
Editor’s note: Permission was obtained to share Erin and
Samantha’s stories with our readers. Special thanks to the
Faulkners for allowing us to do so.
Katherine Berry, MS, CGC
Board Certified Genetic Counselor
What is
Stickler
Syndrome?
This genetic condition causes changes in
connective tissues, including the skeleton. At birth,
short length of the body, spine changes, cleft palate,
and flattening of the middle portion of the face may
be present. The face may have a “scooped out”
appearance, with small folds in the inner corners of
the eyes. Hearing loss, nearsightedness, cataracts,
and retinal detachment can also be features of
Stickler syndrome. Arthritis may occur at an earlier
age than usual, causing aches and pains in
young people.
Stickler syndrome occurs when there is a change
in one of five possible genes known to cause the
condition. It occurs in one per 7,500 – 9,000 births.
Only one or two babies with the condition are born
in Montana each year. The most common cause is a
changed collagen gene called COL2A1. When this
change is present, it's passed on at a 50% chance to
offspring, and may be seen in multiple generations.
This is known as “dominant” inheritance.
Some rarer genes which also cause Stickler
syndrome are “recessive,” meaning it takes two
copies of a gene change, one from each parent, to
cause the condition. In the recessive form, brothers
and sisters, not successive generations, are more
likely to be affected. Specialty laboratories can test
these genes if an individual appears to have
findings of Stickler syndrome.
This is a variable condition, meaning individuals
may be differently affected, even in the same
family. Depending on medical needs, care from
craniofacial specialists, orthopedists, therapists,
eye, hearing, and heart specialists may be
beneficial. Medical geneticists and genetic
counselors provide consultation throughout life,
including at reproductive age.
References: GeneReviews, www.ncbi.nlm.nih.gov
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