News from CdLS
Hiker Walking The Appalachian Trail For Charity
July 17, 2007
SALISBURY - When Jim Schiwal began his roughly 2,175-mile trek of
the Appalachian Trail this year to raise money for an Avon-based charity, he
expected a difficult journey.
"I think about 15 percent of hikers that start in Georgia actually complete the
trail [in Maine]," he said.
Schiwal, 59, of Douglas County, Ga., has reached Connecticut in his hike to
raise money for the Avon-based Cornelia de Lange Syndrome-USA Foundation Inc. As
he rested in the Lakeville section of Salisbury, Schiwal admitted Monday that
there was no way he could have predicted what was to come.
"I started on the 8th of February,
assuming that I would get ahead of the masses of people," he said. "I didn't
realize that I was going to run into three snowstorms and at one point have to
pitch my tent above an inch and a half of snow in North Carolina as winds howled
over me."
But the most difficult events involved his 93-year-old mother.
He twice had to suspend the hike: for 21/2 weeks when she became ill; and
another 21/2 weeks when she died.
His mother was involved in the fight against Cornelia de Lange Syndrome, or CdLS,
even before he was. And her death spurred him on.
"She did not want me to stop," Schiwal said. "That is the driving force for me."
CdLS is an incurable and relatively unknown disease borne from random gene
mutations that affects 1 in every 10,000 live births. Characteristics of the
syndrome include slow growth, connected eyebrows, up-turned noses, heart
defects, seizures, feeding difficulties and excessive body hair.
Another driving force, Schiwal said, is a 6-year-old girl from Douglas County,
Alley Grubb, who has CdLS and consequently looks and thinks like a 3-year-old.
Schiwal intended the funds raised, currently more than $2,000, to go to the
Grubb family, but he said the familychose not to accept it and instead dedicated
it to the CdLS-USA Foundation.
The 26-year-old national organization serves as a family support organization
that works to ensure early diagnosis of CdLS and promotes research into the
causes of the syndrome, according to its website.
Julie Mairano, the executive director of the CdLS-USA Foundation, said that one
of the most important aspects of Schiwal's trip is the awareness that it will
bring to a country that is largely in the dark about CdLS.
"Jim is helping to educate the community," she said Monday. "Thousands of
children have it and are not diagnosed with it. Instead they are diagnosed with
having developmental delays."
On the trail, Schiwel said he has seen black foxes and bobcats, has almost
stepped on mating rattlesnakes, and has even been confronted by bears.
"At one camp, we found a black bear in the bushes between us and our cabin,"
Schiwal said, recounting an experience of his and another hiker. "It started
stomping and snorting and I really couldn't see anything but his red eyes."
But by far the strangest thing he has seen was in Connecticut, he said. "I was
walking along the Housatonic River and I saw a picnic set up on the opposite
beach," he said. "There was a film crew surrounding the picnic. I don't know
what they were filming, but it was probably the strangest thing I've run
across."
Schiwal will continue toward Maine as he tries to complete the trail. So far, he
said, the beauty of Connecticut, more than any other state, has overwhelmed him.
For more information on the Cornelia de Lange Syndrome-USA Foundation Inc.,
visit CdLSusa.org.
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County Times. Com
Litlchfield, CT.
Hiker For A Cause Stops In Salisbury
By: Laurel Tuohy
07/19/2007
SALISBURY-With his current hike of the Appalachian Trail underway, Georgia resident Jim Schiwal is proving that fulfilling a dream can benefit not only oneself but others.
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Mr. Schiwal began his hike in Georgia in February and should finish before the end of the summer atop Mt. Katahadin within Baxter State Park in Maine. It's a trip the avid hiker has dreamed of doing his entire life.
Shortly before he set out he was introduced to the child of an acquaintance who
suffers from Cornelia de Lange Syndrome (CdLS), a rare condition that causes
certain physical abnormalities as well as developmental issues. The sweet girl,
a 6-year old named Alley, made an impact on him, and he decided to use his trip
to raise money for and awareness of the syndrome.
The girl's family asked that the money go to the Cornelia de Lange Foundation,
which is based in Avon. It is for this reason Mr. Schiwal jumped off the trail
Monday in Lakeville to attend a reception in his honor at the home of
Sue Spring.
Ms. Spring, who completed the Appalachian a few years ago, representatives from
the CdLS Foundation and other well-wishers gathered to fete Mr. Schiwal for his
work on behalf of the foundation and to celebrate his birthday, which had been a
few days earlier, with steaks and cake.
The CdLS Foundation was founded in Collinsville by a parent of a child with the
syndrome in 1981. "It started in someone's kitchen," said Marie Malloy, director
of external affairs for the foundation, of the group's grassroots beginnings.
The genetic disorder is present from birth and can be mild or profound. However,
most people affected have similar physical characteristics that include small
stature, possible missing fingers, hands or forearms, joined eyebrows, small and
upturned noses and thin lips.
"Children with mild cases can often be 8 or 9 years old before they are
diagnosed. Parents often struggle to figure out why their child is slower than
his or her peers or smaller than their younger siblings," explained Ms. Malloy.
They also struggle with feeding issues and acid reflux issues from childhood.
One of the largest stumbling blocks in dealing with CdLS is that so few people
are aware of the syndrome though it affects one in 10,000 children, about as
many as Lou Gehrig's disease (ALS).
The foundation works on informing the public, providing support to families that
are affected and informing the medical community about new developments. It
seems doctors may not be familiar with the genetic disorder either, which leads
to many missed diagnoses.
"Unless they focus on genetics, doctors don't get much training on rare
disorders," explained Ms. Malloy. The gene that causes CdLS disorders was
discovered in 2004, and now the information is more widely available and
diagnoses of CdLS are on the rise.
In addition to raising money by asking people to sponsor his hike (he has raised
$2,000 so far), Mr. Schiwal is carrying literature in his pack and distributing
it to people he meets on his journey. He has also set up a comprehensive Web
site chronicling his trip, his connection to Alley and the CdLS Foundation,
along with featuring pictures and anecdotes. The site can be found at
www.hikerjim.com.
"He met this little girl and was so inspired by her that he thought, 'I'm going
to do this hike, I might as well do some good along with it,'" said Ms. Malloy
of Mr. Schiwal. "He took pledges and is raising money, handing out brochures and
telling people about CdLS along the way. He really had no family member or
friend with CdLS, which is usually how we find people," she said.
"The reception was our first chance to meet him, although we've talked to him
often on the phone, via e-mail and we've been getting donations in his honor. It
was a great time, touching and a really nice night," she said. "It was so nice
to finally meet him. Our foundation is supported completely by donations, so
efforts like this really help," she said. "We really appreciate it, he could
have chosen any organization," she said.
On her first impressions of Mr. Schiwal, she said with a laugh, "He had really
great-looking calves-it must be all that walking!"
On a more serious note she said, "He was just as great as we thought he'd be.
You have to be a person with a kind heart to take on an additional challenge
while doing that sort of hike."
To find out more about Cornelia de Lange Syndrome and the foundation visit
www.cdlsusa.org.
