It all began at the beginning of February 2018 on the day we were announced Oliver’s diagnosis. A rare genetic defect, the so-called Angelman syndrome, an incurable disease at this time.
I never forget the moment when I first read what Angelman Syndrome is. The moment when your heart stops. You have huge lump in the throat, can’t breathe. There is so much pain in one moment. The moment you feel you will not catch the breath anymore! You have been told that your child is incurably ill. Till the end of the life completely dependent on you.
Until now, even though we felt that everything was not as it should be, we still hoped. We have all believed that it is just a little thing we can come along with, and one day we will remember it smiling and joking.
Hopes were gone in the instant.
Angelman syndrome is a very rare genetic disorder on the fifteenth chromosome. In the Czech Republic Angelman syndrome began to be diagnosed in 1997. The disease can only be diagnosed by the targeted genetic test. This is not part of a standard examination during pregnancy during amniotic fluid examination. The first differences can be observed after birth, when there may be a problems with breastfeeding. Around the sixth month first signs of delays in development may be observed. Neurological examination does not reveal more serious deviations from the standard except non standard EEG activity. With age there is a delay in development. Syndrome is characterized by disorders of balance, coordination, mental retardation, speech absence and sleep disorders. Typical features are hand waving, puppet like walking, water fascination and a smiling and generally good endeavor.