has a 1-year-old son that lives with Angelman Syndrome

“Daniel was born in May 2019. The pregnancy was perfect. I was the happiest woman in the world! Yes, during the first months Daniel had feeding problems, a small blockage in the throat, a little flat head, strabismus, reflux issues. They seemed like tiny problems as many babies may have this. When Daniel was 3 months old, he was hospitalized to exclude a neurological origin and genetic test results showed a microdeletion on chromosome 15, which corresponds to Angelman syndrome. Shock. Pain. Tears.

Angelman syndrome is a rare disease caused by chromosomal abnormalities that occurs in about 1 in 15000 new-borns. Children have mental and neurological retardation from the first years of life. It is accompanied by seizures, sleep disturbance, frequent laughter and absence of speech. This is a genetic defect, and there is no cure for it yet.

While half of me was crying, the second half wanted to do everything possible for my son! We contacted many organizations for Angelman syndrome that supported us on our way! Daniel’s weekly routine includes physio and occupational therapies, speech therapy, swimming pool, vision development and osteopath visits. Every 3-4 months we try to go to intensive therapy in rehabilitation centres and we do a lot of exercises at home. It is extremely rare that the diagnosis was discovered so early at 3 months old. The diagnosis is usually made around the age of one to two years old because Angelman syndrome cannot be detected with standard tests during pregnancy.

If you look online Daniel fits the description of children with Angelman syndrome well. But what is not written online is that every child is different and has their own personality. Daniel taught me to value the simple things, which we may take for granted.

Today, we have great hope, as scientists are about to start the first clinical trials in history for the treatment of the cause of Angelman syndrome.  I believe that the new therapy will help significantly, and my son can be healthy and become able to learn. Then he’ll go to a regular school and I won’t even be mad if he gets bad grades. He will have friends and love. An ordinary childhood.”

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