A real voice for a rare condition
From Spotlight on Health May/June 2008
CentraCare Clinic Genetics Program answers questions
When Jill and Pat Klasen celebrated the birth
of their third child, Ben, in November 2005,
the experience seemed as normal as with their
first two children (Rachel, now 8, and Jack, 6).
But differences in Ben’s development during
his first year caused concern.
“He didn’t reach the normal stages like rolling
and bearing weight on his legs. Instead we
noticed he was more floppy,” Jill said.
At Ben’s six-month check-up, his
doctor suggested he start physical
therapy to develop his muscle
tone. She also noted that Ben’s
chest wall was indented. In the
next few months, Ben visited a
pediatric neurologist and
chiropractor. Still no answers.
In October 2006, St. Cloud
Hospital Physical Therapist Tracy
Arduser evaluated Ben. She
noticed Ben’s loose skin, gross
motor delays, flat feet and
inefficient respiratory patterns
and contacted David Tilstra, M.D., genetic
specialist with CentraCare Clinic. Dr. Tilstra
saw Ben the next day. After running multiple
blood tests, Dr. Tilstra was able to rule out
many possible conditions, but still didn’t have
an answer until January 2007.
After further research, Dr. Tilstra suspected
Cutis Laxa, a rare genetic connective tissue
disorder that can affect the heart, lungs and
digestive system and cause bone abnormalities.
Ben also has a condition in which mucus
blockage enlarges his respiratory passages.
Ben’s other related conditions include an
indented chest and weak ankles.
Dr. Tilstra referred the Klasens to a
subspecialist in Chicago. They also discovered
Cutis Laxa International, a support group based in France, which connected the Klasens
to other families around the world. Through
this connection, the Klasens, of Albany,
became part of a study conducted by
a St. Louis research physician.
“From the looks of shared photos and
information from support group members, we
can be thankful that Ben seems to have a very
mild case of Cutis Laxa,” Jill said.
Ben undergoes physical, occupational and
speech therapy three days a week. He also gets
daily antibiotic and nebulizer treatments to
avoid bronchial infection. The therapy has
paid off; Ben started to walk at 18 months of
age and now is starting to talk.
“Overall, he looks like a normal little guy who
is usually pretty happy -- especially when he
gets to watch Elmo,” Jill said. “We are very
grateful to have someone like Dr. Tilstra and
the genetics team in this area. Had we not
been given a medical diagnosis, I do not
believe Ben would developmentally be where
he is today. Knowing his disorder helps us to
stay on top of any other problems he may
encounter in the future.”
CentraCare Clinic’s Birth Defects and
Genetics Program is a resource for families
and health care professionals to aid in the
diagnosis and management of genetic
conditions and birth defects.
The Familial Cancer Clinic serves as a
resource and information center for families
and individuals with concerns about their
genetic risk of cancer.
Genetic counseling provides information
and support to individuals and families with
genetic conditions or birth defects, or to
individuals or couples who have an increased
chance of having a child with a genetic
condition or birth defect.
Learn more about the CentraCare Clinic Genetics Program.