Angels Of Flesh And Blood. Angelman Syndrome
I often think about what our work is for. Humbly and honestly I have to say that having the “power of the word” and making it possible for several people to know about news, receive interesting information, which can help, is very good! Among all those people who read us, and whom we thank for their time and attention to us, there are certainly many who have affairs in their families, friends, or acquaintances, and who, in one way or another, we can help.
Following the maxim of power that the word has, and trying to arouse consciences, raising broken hearts or looking for lost spirits… today we want you to know a little-known syndrome called “ Angelman Syndrome ” or “Happy Doll Syndrome”.
The testimony, the best way to know…
Aitor is a little Spanish boy who was 20 months old when his parents told him he wasn’t going to walk… he still didn’t know he had Angelman Syndrome. Today, at age 6, he has his whole life on the Facebook page created by his parents, “Adventures and misadventures of a family with Angelman“. Aitor plays football, plays the drums, enjoys swimming, running and using the computer, as well as adoring his brother, Urko.
Angelman Syndrome
In 1965, English pediatrician Harry Angelman was the first to discover this syndrome. He listed 3 of his patients with the same characteristics: severe intellectual disability, motor speech difficulties and excessive laughter. It took 30 years from that brief description until, in 1987, it was discovered that these people had a missing DNA fragment on chromosome 15.
10 Things You Should Know About Happy Doll Syndrome
1. It affects very few people. In addition to the extremely small number, doctors are not familiar with a syndrome that is sometimes confused with other disorders, such as autism or cerebral palsy.
2. The newborn is a normal baby, until the sixth month, when delays in neurological, motor and intellectual development begin to be noticed, which become even more evident after the first year of life.
3. 60% of them have blond hair and blue eyes due to hypopigmentation.
4. Lower than average cranial perimeter ( microcephaly )
5. facial characteristic traits: prominent jaw , wide mouth , sunken eyes, tendency to have his tongue out.
6. Serious speech impairment , extremity tremors , epileptic seizures …
7. Willingness to be happy almost constantly, laughing, which gave rise to the nickname “The evil of the happy child” or the Happy Doll Syndrome, baptized as such by pediatrician Hayy Angelman, in 1965.
8. Each case is different and, in 15% of them, the cause is still unknown.
9. The risk of having a second child with Angelman is very high.
10. It can be identified in 85% of cases through a prenatal diagnosis consisting of a chorionic villus biopsy, or amniocentesis. However, for the other 15%, there are no answers.
