Читать книгу An Eligible Bachelor - Carolyn Greene, Carolyn Greene - Страница 7

Dear Reader,

Fifteen years ago, a baby boy with a big personality came into my next-door neighbors’ lives. Doctors diagnosed him with a rare genetic disorder, Joubert Syndrome, and predicted that little Sean would never sit up, talk or even smile.

Although it’s known that Joubert Syndrome is genetically transmitted by both parents, testing is not currently available to determine whether they are carriers. Typical features of Joubert Syndrome, caused by a malformed or missing part of the brain (cerebellar vermis), include alternating episodes of panting and non-breathing in babies, poor balance and coordination, abnormal eye and tongue movements and decreased muscle tone. In addition, there are developmental delays and some degree of mental retardation is common. Since this is such a rare condition, it often goes undiagnosed or is misdiagnosed as Dandy Walker Syndrome or Cerebral Palsy.

Fortunately, Sean was too young to understand the doctor’s grim prognosis. Today, he sits in his wheelchair, communicates through sign language and wears an ever-present smile. His mother served on the first Board of Directors for the Joubert Foundation, and the family has met others from all over the world with children like Sean and subsequently shared their experiences and struggles with me.

For more information about Joubert Syndrome, go to the Web site at http://www.joubertfoundation.com, or send a self-addressed stamped envelope care of Mary Van Damme, Joubert Syndrome Foundation, 12348 Summer Meadow Road, Rock, MI 49880.

All the best,