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.