Angelman Syndrome
Angelman Syndrome (AS) is a very rare neurogenetic disorder characterized by severe global developmental delays (estimated 1 in 12 000-20 000). People with AS typically have impaired verbal skills, gross & fine motor skills, seizures and sleep disorders. They often present with a happy, pleasant demeanour, a wonderful smile and a contagious laugh.
Our journey with Angelman Syndrome began when we saw Colin Farrell on the Ellen Degeneres in June 2012. Collin was describing his son's hand flaps to express happiness and his fascination with water. After watching this episode, we suspected Hannah had Angelman Syndrome. After numerous tests, our doctors believed it was simply a delay. Feeling that there was more to Hannah's delays we went back to the geneticist for more testing.
Hannah has an imprinting mutation. Mutations can be inherited or can be a spontaneous mutation. It was explained to me that the UBE3A gene is like a paragraph. Her brain reads the paragraph but comes across a spelling mistake (the mutation), the brain stops reading but tries again and comes across another spelling mistake (mutation). Then the brain stops reading the gene and does not create the proteins required; the gene acts as if it is deleted. Hannah’s genetic make up is intact but is mutated. Only the maternal copy of chromosome 15 is expressed in every brain and in AS. The healthy copy of the UBE3A gene remains on the paternal chromosome, but AS brains won’t express it.
People living with AS require life-long supports, consistent and intense therapies to help develop functional skills & improve their quality of life. Close medical supervision and multiple medical interventions are often required. Angelman Syndrome is often misdiagnosed since other syndromes have similar characteristics. To see a list of other syndromes that can be mistaken for Angelman Syndrome click here.
The Angelman spectrum is broad - no two children are alike in terms of presentation. Angelman Syndrome does not define the individual but it is a part of them. To read more about AS, the characteristics, research, upcoming clinical trials. Please visit Foundation for Angelman Syndrome Therapeutics (FAST) click here.
Our journey with Angelman Syndrome began when we saw Colin Farrell on the Ellen Degeneres in June 2012. Collin was describing his son's hand flaps to express happiness and his fascination with water. After watching this episode, we suspected Hannah had Angelman Syndrome. After numerous tests, our doctors believed it was simply a delay. Feeling that there was more to Hannah's delays we went back to the geneticist for more testing.
Hannah has an imprinting mutation. Mutations can be inherited or can be a spontaneous mutation. It was explained to me that the UBE3A gene is like a paragraph. Her brain reads the paragraph but comes across a spelling mistake (the mutation), the brain stops reading but tries again and comes across another spelling mistake (mutation). Then the brain stops reading the gene and does not create the proteins required; the gene acts as if it is deleted. Hannah’s genetic make up is intact but is mutated. Only the maternal copy of chromosome 15 is expressed in every brain and in AS. The healthy copy of the UBE3A gene remains on the paternal chromosome, but AS brains won’t express it.
People living with AS require life-long supports, consistent and intense therapies to help develop functional skills & improve their quality of life. Close medical supervision and multiple medical interventions are often required. Angelman Syndrome is often misdiagnosed since other syndromes have similar characteristics. To see a list of other syndromes that can be mistaken for Angelman Syndrome click here.
The Angelman spectrum is broad - no two children are alike in terms of presentation. Angelman Syndrome does not define the individual but it is a part of them. To read more about AS, the characteristics, research, upcoming clinical trials. Please visit Foundation for Angelman Syndrome Therapeutics (FAST) click here.