Struggling with ‘pretzel’ syndrome the heart of the farm is the family eseva electricity bill payment


Then, the couple wondered if their infant daughter was showing some mild delays in her development concerns that any parent might have. But it was gas oil ratio 50 to 1 on Father s Day, June 2008, Bryan recalls, two-and-a-half months after their daughter was born, that someone from their church first mentioned Katelyn seemed to share similarities with another child in the church who had been diagnosed with the rare syndrome.

Due to Katelyn s weak eye muscles, she needed to have eye surgery. Later, she needed a second eye surgery to correct the problem further, Bryan said. Now, behind her wire-rim glasses, Katelyn s alert eyes and big smile are contagious to others in the room. But her playful demeanor belies the genetic disorder that has had such a strong impact on her young life. Most problematic are Katelyn s severe mental and emotional delays, brought on by an improper growth of her brain cells. The Burkholders now know that their young daughter probably will never be able to walk or talk due to a tiny mutation in her genetic makeup.

The Burkholders are a courageous couple, said Dr. Kevin Strauss, a pediatrician working with rare genetic disorders at the Clinic for Special Children in Strasburg, Pa., which was started in 1989 by another pediatrician, Dr. Holmes Morton, specifically to work with children in the Plain electricity flows through Sect religious communities who have inherited disorders.

The medical choices for the family have not been easy. When Strauss asked the Burkholders if they wanted to try a new experimental medication for Katelyn s syndrome, they agreed. Though Strauss is aware of the realities gas 85 of Katelyn s situation, he also has high hopes for the drug, called sirolimus, that works to prevent seizures for children with pretzel syndrome over the long-term.

Unfortunately, one of sirolimus s side effects makes Katelyn more prone to infections. Already, several infections have required young Katelyn to have three hospital stays. But though her infections have been setbacks, they have been treatable, and the Burkholders have decided to continue with the sirolimus treatment based on the knowledge that intractable seizures are a major cause of death in other Pretzel Syndrome children.

In many ways, Katelyn is benefitting from such an early diagnosis. She is the youngest child ever to be diagnosed at the clinic, and is receiving very early intervention. The brain s development during these important early years, especially before age three, is a primary focus of the drug treatment which appears to slow down the damage caused by the genetic mutation.

Sure enough, the genetic testing showed that Katelyn had mutations in her STRAD-alpha protein, a protein which, through a complex interaction with other proteins and molecular networks, regulates the size of brain cells. Strauss explained to them how without this protein, during the child s development in the womb, abnormally large cells are formed that cannot migrate through normal pathways to their proper positioning in the brain due to their large size. The resulting symptoms show up as pretzel syndrome children who have intractable seizures, severe industrial electricity prices by state psychomotor retardation, weak muscles and loose joints. The characteristic posture caused by the lax joints and restless gas constant movement of the limbs is what gives the syndrome its name.

Katelyn has three therapists working with her (speech, physical and occupational). Even though the Burkholders don t expect Katelyn to be able to talk, she is learning to express herself with other forms of communication, such as sign language she s learning from the speech therapist. The other therapists work on her gross motor skills such as standing and walking to keep her muscles strong, and on her fine motor skills, such as building with blocks and playing music.

Fortunately, Katelyn hadn t had any seizures at all this year, up until last month, when one occurred. Katelyn, and now two other young pretzel syndrome children are taking the same experimental medication. The sirolimus drug acts as a substitute for the missing STRAD-alpha protein, and keeps the electricity billy elliot karaoke with lyrics brain cells from getting too large, said Strauss.

The clinic will be holding two benefit auctions of crafts, household items, quilts, farm equipment and supplies, furniture, collectibles, specialty items and more to raise funds for the clinic s work. One auction is on Sat., Sept. 11, at Morrison Cove Auction in Roaring Spring, Pa., and a second big all-day auction is on Sat., Sept. 18, at the Leola Produce Auction building in Leola, Pa., located on Brethren Church Road off of Route 23. Breakfast is served beginning at 6 a.m. and the auction begins at 8:30. (The quilt sale begins shortly after 11 a.m.) Donations of Leola auction items to are still being accepted call 717-626-4863 with auction questions.