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 hand flaps to express happiness and his fascination with water. After watching this episode, we suspected Hannah had Angelman Syndrome. After numerous tests over the years, our doctors believed it was simply a delay. This gave us so much hope. Feeling that there was more to Hannah's delays we went back to the geneticist for more testing.
There are three major genotypes of Angelman syndrome. Deletion, UPD and Mutation of this one Gene UBE3A on Chromosome 15. (read more about AS click here.) Hannah has an imprinting mutation. Mutations can be inherited or can be a spontaneous mutation during conception. It was explained to us 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). The brain eventually 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. Fun Fact: 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. Read those last two sentences again, if you remember from high school bio, you gain one chromosome from your mom and one from your dad to make up 23 pairs. So UBE3A is expressed only on the maternal copy on chromosome 15 in each of us. Hannah's UBE3A is having a hard time, and so it some other people's. We all have a maternal copy, therefore it has nothing to do with being a boy or a girl.
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.
Let me be clear, Angelman syndrome DOES NOT DEFINE my daughter! It is a part of her. That is not the first thing you need to know about her. She has so many beautiful qualities to share with the world. As we all know, connection and relationships matter the most in this world and that is what we strive for. Community. Our family has a beautiful life and we are so proud of what we have built. It can seem overwhelming to talk about life long supports as a parent and that is why we need to connect, deep breath and know that we are all in this together!
Our journey with Angelman Syndrome began when we saw Colin Farrell on the Ellen Degeneres in June 2012. Collin was describing his son hand flaps to express happiness and his fascination with water. After watching this episode, we suspected Hannah had Angelman Syndrome. After numerous tests over the years, our doctors believed it was simply a delay. This gave us so much hope. Feeling that there was more to Hannah's delays we went back to the geneticist for more testing.
There are three major genotypes of Angelman syndrome. Deletion, UPD and Mutation of this one Gene UBE3A on Chromosome 15. (read more about AS click here.) Hannah has an imprinting mutation. Mutations can be inherited or can be a spontaneous mutation during conception. It was explained to us 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). The brain eventually 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. Fun Fact: 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. Read those last two sentences again, if you remember from high school bio, you gain one chromosome from your mom and one from your dad to make up 23 pairs. So UBE3A is expressed only on the maternal copy on chromosome 15 in each of us. Hannah's UBE3A is having a hard time, and so it some other people's. We all have a maternal copy, therefore it has nothing to do with being a boy or a girl.
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.
Let me be clear, Angelman syndrome DOES NOT DEFINE my daughter! It is a part of her. That is not the first thing you need to know about her. She has so many beautiful qualities to share with the world. As we all know, connection and relationships matter the most in this world and that is what we strive for. Community. Our family has a beautiful life and we are so proud of what we have built. It can seem overwhelming to talk about life long supports as a parent and that is why we need to connect, deep breath and know that we are all in this together!