A research paper by Lori Frevold , mother of an ANGEL.
18 September 2000
"You are handed a beautiful baby. The future seems to rush at you. He is so little, so cute. You swear he smiled at you. At his six week check up he laughed and smiled. The doctor tells you no…he is to young to smile and laugh. It is just gas. The doctor says everything is fine go home, love and care for your child. He continues to smile and laugh and be happy. Milestones come and milestones go all he does is smile and laugh. You know in your heart something is wrong. At six months he still does not roll over and has no interest in sitting. At one year you are helping him to balance and sit. He does not walk until he is six years old. The doctor tells you your beautiful child has microcephaly (small head) and Cerebral Palsy. You go home and the future rushes at you again…only differently. At thirteen years old he is in a special program at school. You still know in your heart he does not have Cerebral Palsy. He is too flexible, too strong and he does not speak at all. He continues to smile and laugh and love. He still wears diapers. You are home sick from work one day "channel surfing" and on one of those channels a child smiles at you and thirteen years flash back…It is your answer."
Due to lack of information and recognition of Angelman Syndromes characteristics, this chromosome abnormality is often mis-diagnosed or overlooked by pediatricians and teachers. Once thought to be rare, with fewer than 1,000 known cases in the United States and Canada, information on Angelman Syndrome is slowly becoming more readily available to doctors, teachers and parents via the Internet. Angelman Syndrome was first recognized by Dr. Harry Angelman in 1965(Evans-Hyman). Dr Angelman noticed A group of three children each in a different hospital who all exhibited the same characteristics. He first called the syndrome Happy Puppet syndrome because of the children's happy demeanor and jerky gate (Hyman. Angels ). All three children appeared to walk like puppets on a string with feet turned outward and hands up in the air. He also noticed that all three children would laugh inappropriately.
Angelman Syndrome is a genetic disorder caused by the abnormal function of the gene UBE3A located within a small region (q11-q13) of chromosome 15. (A.S.F. 12) In 1996/1997, Dr. Joseph Wagstaff of Children's hospital in Boston and Harvard school of medicine and Dr. Arthur Beauder from Baylor College of Medicine located a single gene on chromosome 15q called EBE3A that caused Angelman Syndrome (Celle). It was discovered that in 65-75% of Angelman Syndrome cases there was a very small piece of the maternally derived chromosome 15q11-q13 was missing. Other variations of the syndrome occur at a lesser rate. Paternal uniparental disomy (UPD) occurs in 3-5% of Angelman Syndrome cases. In these instances the paternal (father) carries two copies of chromosome 15 and the maternal (mother) carries no copy of the chromosome(Celle). Imprinting center mutations (I.C.) occur in 7-9% of Angelman Syndrome cases. In this form of Angelman Syndrome, the imprinting center acts like a switch that turns on the maternal copy of the UBE3A gene and turns off the paternal copy of the gene. If the Imprinting center mutation occurs sporadically there is 1% recurrence rate. If the patient's mother carries the Imprinting center mutation on her paternally inherited chromosome 15 then the recurrence rate increases dramatically to 50%(Celle). For this reason all family members should be tested if children are in there future. Chromosome studies using the FISH test can determine whether or not the deletion is present. In 10-20% of Angelman Syndrome cases no genetic abnormality is found but the characteristics commonly know to be Angelman Syndrome are present (Celle).
Angelman Syndrome cases have many characteristics in common. Some of these characteristics exhibit in a more social way and some are of a physical nature. Almost all children who suffer from the syndrome exhibit them. Socially, probably the most apparent is the childs happy demeanor, inappropriate laughter, and inappropriate touching. Alice Evans writes, "Do you find yourself apologizing your life away to strangers who have been hugged, squeezed, grabbed, had their hair pulled etc…by your favorite angel?" (7). "Angels", as their parents often call them, also have an abnormal fascination with water and plastic. One of the best forms of entertainment for an Angel is a 2 liter plastic bottle, a chopstick and a piece of plastic. The chopstick is used to stuff the plastic in and out of the plastic bottle. This offers hours of play. Water is a great motivator as well as food for a child with Angelman Syndrome. It seems that when it comes time to eat they have hollow legs. "Angels" are very impatient when it comes to dinner. If you sit them down at the table, they want to eat NOW. This makes a trip to a restaurant a challenge for the Angels family or caregiver. "Objects on someone else's plate are closer that they appear." (Evans 9). Angelman Syndrome children are very loving and happy and any parent will tell you that the love received from them is worth all the social anxiety that can and will occur. Another common social behavior among children with Angelman Syndrome is their inability to tolerate heat. This of course leads to undressing which causes a problem for family members, caregivers and teachers. Some solutions to this problem are one piece jumpers or sewing an Angels shirt to his shorts.
There are physical characteristics that all Angelman Syndrome children exhibit. The most common is little or no speech. This does not mean that an Angel does not communicate. Angels are considered to be quit intelligent, when they choose to be. They communicate their needs with signs, pictures or gestures that only a family member can figure out. Pictures of family members especially fascinate them. For some reason pictures of dogs seem to elicit a great response. Children with Angelman Syndrome love to ride in cars and can often recognize a favorite restaurant like those "golden arches." They use their special form of communication to let you know that they want to go there. Angels will flap their arms, smile or laugh out loud and sometimes they will reach up and smack you on the back of the head just in case you missed the "arches", but very rarely do they speak. This appears to be a problem related to the deletion on chromosome 15 in the area that controls speech, however, much research still needs to be done on this and it is not known how it effects their speech (Celle).
Other Characteristics that all children with Angelman Syndrome exhibit are more physical in nature. Developmental delay and a jerky, unbalanced gait and in approximately 80% of "angels" an onset of seizures occur by the age of three (Hyman, Overview). Microcephaly and an abnormal EEC also occur. In 20-80% of cases there are feeding problems during infancy because of sucking and swallowing disorders (Hyman A-Z 29). As the Angel grows eating problems rapidly disappear! Most A.S. children love to chew on things and have a fascination with water.
Families of Angelman Syndrome children face many economic, social and emotional problems. Since A.S. children are so happy and affectionate they tend to grab or hug strangers inappropriately. Emotionally, caring for an Angelman Syndrome child is very trying. Most need one on one care. Independent living is not possible for those who have Angelman Syndrome. The main caregiver feeds, bathes, brushes teeth, cuts hair and in most cases is involved in either toilet training or changing diapers. Toilet training is possible but only on a scheduled basis, however, it is very difficult to stick with a schedule, especially when in public, so diapers are most often used. As and A.S. child grows money becomes a concern for a lot of people. Diapers, especially adult diapers, are costly. Medicaid provides medical care only if the child's parents live at or below poverty level. Some families have been lucky enough to acquire a group health plan through their place of employment. This health plan usually only lasts until the age of 25 years. An Angel's life span is expected to be normal(Geneclinics) .
The day to day care of an Angel puts a tremendous strain on the entire family. The Angelman Syndrome Foundation provides many resources for parents and siblings of the A.S. child. One of these resources is an internet site called Sibnet. Sibnet provides information, discussion boards and information for the siblings of A.S. children. It allows a sibling of an A.S. child to interact with other children who have a mentally challenged brother or sister. They are able to post poems, pictures or papers to the site. For the adults in the family the Angelman Syndrome Foundation provides Listserv (Evans-Hyman 10). Listserv is a list of e-mails and contacts so that parents are able to communicate with each other. It is a great source of "how to" information. All of these resources can be accessed through the internet by typing in a word search for Angelman Syndrome.
Angelman Syndrome is emotionally draining and physically exhausting at times for parents, siblings, grandparents ect… It is however, to this parent a learning experience that has made her stronger. Alice Evans has a final thought on Angelman Syndrome that can pick up a parents spirits when they are down. So in closing, here is that final thought.
"Do you sometimes feel so sad, fatigued, lonely and overwhelmed you can't imagine hanging in there much longer? And when you think about it for awhile…is it impossible to imagine life without the unconditional hugs and love from your angel? There's just something about that grin…and the joy that our angels express when they see us…that will help us endure (Evans 8)."
A.S.F. Voices of Angels. Vol. 12 No. 3 Pg. 12. Angelman Syndrome Foundation Newsletter. Aug. 2000.
Evans, Alice and Hyman Julie. Angelman Sydrome From A-Z. Funded by the Angelman Syndrome
Gene Clinics: Angelman Syndrome. University of Washington, Seattle. 15 Sept. 1998. Williams, C.A.
Hyman, Julie. Homepage ANGELS AMONG US
Homepage. 17 Jan. 2000. Angelman Syndrome An Overview. <http://www.ios.com/~