Leah Rose has been examined by a geneticist at the Shands Hospital, University of Florida, in Gainesville. The geneticist has given her a diagnosis of Freeman-Sheldon Syndrome, also known as Whistling Face Syndrome. This syndrome affects the craniofacial, skeletal and muscular areas. It is very rare and occurs in approximately one in a million births. The following is a list of the characteristics that she is exhibiting:
She passed her hearing test and her eye exam while she was in the hospital. Cat scans, MRI's and chromosome tests were negative. She did have a PDA at birth, but that has almost completely closed. She did have a tilted kidney, but that has straightened itself out. However, one kidney is still thicker than the other.
The prognosis is very good. She is expected to live a normal, healthy life and should have normal intelligence. Physical and occupational therapy will be the treatment for the contractures which will greatly improve the quality of her life. Speech and developmental therapy will also be included in her treatment.
Some of the difficulties that she may encounter will be:
She had the colic for approximately 6 weeks along with a lot of gas at about 2 or 3 months old. She kept refusing the bottle and would barely take an ounce at each feeding, about every 2-4 hours. The longest period that she sleeps is about 5 hours, maybe once a day. Otherwise, she sleeps from 15 minutes to an hour and stays awake for several hours, usually in a very fussy mood. She loved to be held, cuddled, and rocked. I spent most of my nights sleeping in the recliner chair, holding her. Her sleeping and feeding habits improved greatly after she turned 3 months old.
At 4 months old, Leah was a very bright, active baby. She responds well to people talking to her, looking at them, and responding to smiles. She reached out with her hands and examined everything, feeling textures of blankets and clothes, or skin. She had just started to reach out for toys and learned to roll over on her side, but she could not roll back. She has a very strong will and a matching personality. She can hold her head up very well and she has a good stepping motion with her feet and legs. Her arms, hands, fingers and legs are very strong. She weighed 9 lbs., 6 oz. and was 24 in. long.
Be sure to read our journals for more detailed information on her progress.
Click here for more information regarding Leah's cleft palate.
RESOURCES FOR FREEMAN SHELDON SYNDROME
National Craniofacial Foundation
Make a donation to the March of Dimes