ANGELMAN SYNDROME

BY KATIE CAMPBELL Raising the profile of rare diseases is vitally important, so with that in mind, what is Angelman syndrome?

Scottish author Ian Rankin, who penned the internationally acclaimed Inspector Rebus series of novels, has been speaking recently about the difficulty his family has faced over the pandemic with regards to not being able to spend quality time with his son, Kit. Kit lives with Angelman syndrome, and is shielding in a care facility, where Rankin says he is exceptionally well looked after.

Perhaps inadvertently, this has raised the profile of Angelman syndrome - and that’s a good thing. Raising

Ian Rankin awareness for rare diseases is vitally important: it increases awareness amongst the general public, healthcare professionals, policymakers, and researchers, all of whom have a degree of power when it comes to supporting people who live with rare diseases and conditions. It may not feel like it, but the general public can help raise funds, which in turn helps researchers; healthcare professionals with a wider knowledge of rare diseases are able to produce earlier diagnoses, which can be helpful to people living with these conditions; and policymakers can use their awareness to support anyone who may be affected by rare diseases from a legal or political standpoint. With this in mind, let’s take a valuable moment to get educated on Angelman syndrome. Angelman syndrome is a genetic disorder that affects a person’s nervous system. It affects a person’s chromosomes, and this is where a bit of genetic biology comes into play. Most people have 23 pairs of chromosomes inside their body - some people don’t, or they have more, or their chromosomes are a little different. In the case of people who live with Angelman syndrome, there’s a small area of the 15th chromosome which doesn’t work as it’s expected to. Chromosomes look like two little tubes joined together about two-thirds of the way up to make an X shape, with the short arms called the p arms, and the longer arms called the q arms. The region that doctors look at when they’re trying to diagnose someone with Angelman syndrome is 15q11-13: that means it’s sections 11-13 of the 15th chromosome on the q arm. What’s important about this little bit of chromosome is that it contains a gene, UBE3A, which makes a protein called E6-AP, and it helps with “housekeeping” inside cells. In people who live with Angelman syndrome, the maternal copy of UBE3A is “switched on,” but while it’s still there, the paternal copy is “switched off” - this is called imprinting. This is also the very same gene that geneticists will examine if they think a patient might be living with another rare genetic disorder called Prader-Willi syndrome. Because of this, if a couple have a baby who lives with Angelman syndrome, there’s about a one in two chance that another child they have will also live with Angelman syndrome.

Angelman syndrome is named for the physician who first identified it, Dr Harry Angelman

There are symptoms consistent with a diagnosis of Angelman syndrome, and some that are associated with it, but ultimately, everyone who lives with Angelman syndrome will have a different experience. The consistent symptoms of Angelman syndrome include delayed development, severe learning difficulties, issues with movement and balance, and little or no speech. Some people who live with Angelman syndrome might also experience seizures, as well as being full of laughter. People living with Angelman syndrome are often recognised by their very smiley, happy disposition. That’s not to say that they don’t experience a wide range of feelings or emotions. Angelman UK is a brilliant charity who have wonderful support for families and people who live with Angelman syndrome, and they’ve produced some excellent videos which give insight from families which include a sibling or child who lives with Angelman syndrome. In their words: “Syndrome and its characteristics. Some common behaviours include; determination, excitement, love of food, therefore grabbing food, pulling hair, stubbornness, chewing clothes, a short attention span, hugging, and reaching out for objects and people in the surrounding environment.” Angelman syndrome is named for the physician who first identified it, Dr Harry Angelman, who was the first to write about three patients he treated in children’s wards around 1964, all of whom were experiencing similar symptoms. It’s worth noting, however, that it wasn’t always called Angelman syndrome - this name was adopted in 1982 - but this is the preferred name for the genetic disease, and its previous name is now considered a pejorative. People who live with Angelman syndrome can expect to live a long life, and they benefit from supportive care from occupational therapists, neurologists, sleep specialists, paediatricians, and many other medical professionals, who can utilise a multi-disciplinary approach to ensure that people living with Angelman syndrome can live their fullest, happiest, healthiest lives. For more information about Angelman syndrome, visit angelman.org.