Angelman Syndrome (AS) is the world Kaylee lives in. She is a 15-year-old fun loving girl from Texas who was diagnosed with this rare genetic disorder, shortly after her first birthday.
Autism is very similar to AS. They have the same developmental and speech impairments. However, Autism is more common.
AS is a complicated genetic disorder that mainly affects the nervous system. The most unique features are intellectual disabilities, severe speech impairment, and delayed development. Only one in 12,000 to 20,000 people are diagnosed with AS.
At 18 months Kaylee was not walking, this prompted her parents to take her to see a specialist, who gave her a clinical diagnosis of Angelman’s. Her family has worked very hard with her over the years, but her fine motor skills are unquestionably weak.
However, being afflicted with this disorder has not stopped her. According to her grandmother Lavona Duryea, Kaylee thinks she is a normal kid who loves music and her home computer and is not bothered by her Angelman diagnosis.
Everyone has two chromosomes 15 genes, one inherited from their father (P, paternal) and one their mother (M, maternal). Genetic code UBE3A is the Angelman gene which is in the brain at band q12 on chromosome 15.
AS is generally passed down from the maternal gene. There are four known genetic instruments that are the cause of Angelman Syndrome:
- Imprinting center defect six percent.
- Paternal Uniparental Disomy (UPD) three percent.
- UBE3A Mutation 11 percent.
- Chromosome Deletion 68 percent.
The Imprinting Center
This is a tiny amount of DNA that decides whether the AS gene is in the on or off position. In a small percentage of cases, abnormalities in the maternal chromosome 15 are the cause of the Angelman disorder. When a laboratory testing procedure called DNA methylation, is abnormal imprinting center defect is presumed, but only if there is zero evidence of uniparental disomy or chromosome deletion. More testing is needed for a thorough diagnosis of the defect.
This is the most common cause of the AS, 68 percent of all documented cases have the 15q12 region of the genetic code deleted along with the neighboring area. Angelman Syndrome results from this deletion because there is the defective definition of the code in the brain.
Kaylee’s grandmother, who describes her as very happy and loving. This sweet energetic girl does not act like she has an Angelman disability. “She may not be able to read and write but she can find anything online,” her grandmother proudly brags about her intelligence, and how she loves music.
Autism, like AS, brings social challenges, but Kaylee always has a smile for everyone. According to Duryea, this sweet girl will never be able to live on her own or have a normal life, but she is very high functioning with her Angelman disorder diagnosis.
Some children with AS have seizures, but fortunately for Kaylee, she never had any. ASF (Angelman Syndrome Foundation) recently asked about 1,000 families of individuals with Angelman Syndrome to fill out an online survey detailing present, if any, seizures in AS of any genetic instrument throughout the person’s lifespan. There were also questions asking details on whether progress was made with or without the help of medications.
There were responses from families with a little over 460 people with Angelman Syndrome. Almost 70 percent of the subjects in the study were reported as having a maternal deletion and only two percent having imprinting defect (ID).
Atonic seizures are one of 10 types of seizures listed on the survey and the most common. The Atonic seizure is also referred to as an Akinetic seizure, this is when the individual experiences a sudden loss of muscle strength and falls to the ground but does not always fall. An average of 41 percent of the subjects was reported of having this type of epilepsy with an approximate of 215 episodes a week. According to the survey, almost 60 percent of the subjects over age 18 still have some seizures.
Kaylee has been so fortunate, not only has she not had any seizure activity, her family is loving and close. They are protective of her and will never give up on her, they all accept her Angelman diagnosis as part of who she is.
Though it is unlikely she will ever be able to live on her own or read and write, she can find whatever she desires on a computer. Duryea is so proud of her son and daughter-in-law for everything they have accomplished with her granddaughter. “She is a wiz at puzzles,” Duryea says and she does not seem to feel the cold, rather she is not bothered by it.
Like Matthew Michalek an Autism individual, she has short term Memory problems. Puberty is a difficult concept for her and her mom needs to take on that responsibility for her. This sweet 15-year-old always has a smile for everyone.
Angelman Syndrome is a very rare neurogenetic disorder that affects approximately one in 15,000 people and, in both disorders, there is no specific type of individual more prone to AS. At one time it was believed that blond hair and blue eyes were the most common people to have Angelman’s but the video below shows that kids with brown hair and brown eyes are just as common.
Seizures are very common in both Autism and Angelman disorders. Some experts insist that everyone with living with Angelman’s will have to experience some sort of seizure activity at some point in their lives. Kaylee has not had to experience any form of epilepsy and she has come further than expected. She is very high functioning for someone with Angelman diagnosis.
By Katherine Miller
Edited by Cathy Milne-Ware
NIH US National Library of Medicine: Genetics home reference Your Guide to Understanding Genetic Conditions
Angelman Syndrome Foundation: Epilepsy and its Treatment for Providers
FAST Foundation Angelman Syndrome Therapeutics: What is Angelman Syndrome
All Images Courtesy of Lavona Duryea Licence – Used with Permission