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:

• prominent forehead and brow

• small, recessed eyes, with the right eye somewhat droopy, eyes are crossed frequently with the right eye drifting towards the center more frequently than the left eye; she wasn't able to open her right eye until she was about 8 days old

• ears that are lower than normal and turned slightly backward at the tips

•  wide bridge on her nose and small nasal openings

• long space from her nose to her top lip

• small  mouth and tongue, with a small, recessed jaw; she has a slight pucker at times given the appearance of a "whistling face"; for the first couple of weeks after she was born, she cried with her mouth closed

• limited range of motion in her neck, with her head turned mostly to the right

• contractures of both hands with fingers slightly slanted, both thumbs are adducted (flexed in toward the palm) and her left thumb is more mobile than her right thumb; during infancy she preferred to keep her fists tucked up under her chin

• slight contracture of the right knee

• congenital vertical talus, with contractures of the foot and toes, and rocker bottom in the right foot

Click here to view photos of her hands and feet.  There are links to other albums that have photos of her facial features.

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:

• speech impairment

• swallowing and eating difficulties possibly leading to lung infections (complicated at this time by a cleft in the soft palate)

•  breathing difficulties due to the small nasal openings

• muscle weakness due to the contractures

• delayed growth

• spina bifida or scoliosis

• risk factors from exposure to anesthesia or muscle relaxants

• walking difficulties

• hearing loss

• blindness

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

Freeman Sheldon Syndrome Parent Support Group

March of Dimes Birth Defects Foundation

FACES:  The National Craniofacial Association

Malignant Hyperthermia Association of the United States

AboutFace USA

National Craniofacial Foundation

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse

Craniofacial Foundation of America

Association for Spina Bifida and Hydrocephalus

National Organization of Rare Disorders

Arthrogryposis

Yahoo Groups:  Freeman Sheldon Syndrome