Alicia Bodine was one of the lucky parents.
Her daughter, Noel, was diagnosed very early on (14 months old) because of a very astute doctor. When a neurologist noticed Noel's distinctive facial features and added the developmental delay that was evident, it could have been any number of syndromes, but the doctor picked up on one key aspect of Noel's behavior. She was happy all the time. Red flag.
The doctor ordered a series of blood tests, and there it was--Angelman's syndrome (AS).
AS is a genetic disorder first described in 1965 by British pediatrician Harry Angelman, M.D., who initially referred to it as the "happy puppet syndrome" because of the cheerful countenance and jerky movements of the afflicted children. Parents eventually rejected the moniker.
With AS, everything appears normal at birth, but delay begins to show itself between ages 6 to 12 months. In Alicia's case, she kept telling Noel's pediatrician that she believed something was seriously wrong with her child, but the doctor brushed her concerns aside, an all-too common occurance with genetic disorders like AS. But, fortunately, Alicia persevered.
The most common age for diagnoses is between 3 and 7 years--a very large and potentially crippling age range when it comes to intervention. While it is said that AS occurs in one in 15,000 births, it is believed that the rate of prevalence is likely much higher because some children are misdiagnosed with CP (cerebral palsy) or ASD (autism spectrum disorders).
Despite their severe disabilities, AS children are extremely loving and despite how profound the condition can be, their happy demeanor still shines through. With all the studies conducted about AS, it has not been conclusively determined why laughter is such a big component of AS children.
Other symptoms that are usually present in AS kids are delayed motor development, such as sitting, crawling and walking, jerky, puppet-type movements and stiff-legged walking style, hand flapping, hyperactivity, and often severe intellectual disabilities. Their appearance has distinctive aspects as well: small head with a flattened back of head and broad forehead, widely spaced teeth, broad, flat nose, long face, fold of skin of the upper eyelid that partially covers in the inner corner of the eye, increased distance between eyes, pointed chin, protruding tongue, and often lighter hair and fairer complexion than other family members. Other major concerns include feeding and sleep problems. And epilepsy is a signature problem of AS.
In Noel's case, she also suffers from acid reflux disease, constipation since birth, and an epigastric hernia. Her temperature fluctuates and she easily gets fevers, and cannot be out in either hot or cold weather. She has many sensory disorders and must have something in her mouth at all times, often a pacifier. She will chew her skin if she doesn't have anything else available. She also drools, and is severely mentally retarded.
Noel's typical day starts with her waking up at 3 or 4 a.m. Sometimes she'll just get up and play with her toys (she has free reign in most of the house.). When Alicia, who's a single mom, gets up, Noel will sit on the couch and watch cartoons while her mother makes her breakfast. Alicia makes sure there's an extra outfit and plenty of diapers in Noel's book bag, and gives Noel her medicines. Noel attends a local special services school till 3 p.m. and then has a tutor two times a week for two hours. She loves her tutor. After dinner, it's playtime and Alicia, her 10-year-old daughter Anna and Noel run errands (Noel loves to get out of the house and people-watch). She will snuggle with Alicia and Anna at night on the couch to watch TV (American Idol's a favorite), and then it's time for more medication. She falls asleep easily, but she doesn't stay asleep. Noel takes a bath once every other day because she easily gets eczema if her skin is wet too often, and she swims at school once per week. She has two sessions per week of each PT, OT, and speech at school. They also have art and music, library and gym class at school each week.
There is no cure for AS, because it's a genetic condition. However aspects of it can be treated: Melatonin for sleep (so far it's not working for Noel), and anticonvulsants for epilepsy. There is a wide range of severity for AS, and the symptoms often dissipate in adulthood (although girls spike in sleep disorders, epilepsy and incontinence, when they reach puberty). The disorder is not degenerative and AS adults have a normal life span, and can learn to dress themselves and perform simple household tasks.
Noel's great progress is due largely to early intervention and a mother who is doing absolutely everything right.
Read Alicia's blog at http://www.mylifewithanangel.blogspot.com/
Angelman Syndrome Foundation: http://www.angelman.org
Read about AS and many other childhood disorders in Alphabet Kids: A Guide to Developmental, Neurobiological and Psychological Disorders for Parents and Professionals.