American Idol has helped an orphan disease gain awareness. Angela Martin who auditioned for the show has an eight year old daughter with Rett Syndrome. A few contestants are chosen to have a video montage concerning something in their lives, for Angela Martin it was all about her daughter.

Ms. Martin did get the “golden ticket” to Hollywood and said that her being chosen to move ahead in the competition and being featured on the show is more about getting help for her daughter than about her singing career. Since her appearance on American Idol the International Rett Syndrome Research Foundation’s website got over ten thousand hits according to the Chicago Tribune article on January 28.

Rett Syndrome or RTT is a genetic disease that is mainly found in females. Symptoms begin at about 6 – 18 months of age where a baby begins to regress physically with loss of motor skills and speech. There may be seizures, repetitive hand motions and breathing problems. Many children do live to be adults and are profoundly disabled. There is no cure for this syndrome.

Because of some of the similarities of symptoms, RTT can be misdiagnosed as autism, cerebal palsy, or as a delay in development. There is often an simple way to diagnose RTT. It is through a blood test to look for the MECP2 mutation. There are other syndromes or diseases that carry that mutation though so there are diagnostic criterea to look for also. From The International Rett Syndrome Foundation (IRSF):

Necessary criteria (must be present for the diagnosis)

1. apparently normal prenatal and perinatal history
2. psychomotor development largely normal through the first six months or may be delayed from birth
3. normal head circumference at birth
4. postnatal deceleration of head growth in the majority of patients
5. loss of achieved purposeful hand skill between ages six months and 2.5 years
6. stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automatisms
7. emerging social withdrawal, communication dysfunction, loss of learned words, and cognitive impairment
8. impaired (dyspraxic) or failing locomotion

Supportive criteria (not necessary for the diagnosis, but may also be seen)

1. awake disturbances of breathing (hyperventilation, breath-holding, forced expulsion of air or saliva, air swallowing)
2. teeth grinding (bruxism)
3. impaired sleep pattern from early infancy
4. abnormal muscle tone successively associated with muscle wasting and dystonia
5. peripheral vasomotor disturbances (cold, blue hands and feet)
6. scoliosis/kyphosis progressing through childhood
7. growth retardation
8. hypotrophic (small) feet; small, thin hands

Exclusion criteria (rule out the diagnosis)

1. enlarged organs or other signs of storage disease
2. retinopathy, optic atrophy, or cataract
3. evidence of brain damage before or after birth
4. existence of identifiable metabolic or other progressive neurological disorder
5. acquired neurological disorder resulting from severe infection or head trauma

Please visit this site for more information, for parent resources, to make a donation and to learn how you can make Rett Syndrome a more familiar name with a face.