Angelman Syndrome (AS) is a rare genetic and neurological condition affecting roughly one person in every 12,000 to 20,000 individuals.
People with AS often have learning difficulties, and struggle severely with spoken communication. Most children with Angelman are unable to speak at all, though a limited few retain some language ability and might understand simple words and sentences said to them. Over time, many learn to communicate through other means like gesturing.
There are a number of physical symptoms associated with it as well – involuntary muscle movements, unprompted laughter, and scoliosis affecting a large part of the population. Seizures occur in about seventy percent of patients.
Like any rare condition, living with Angelman requires a certain amount of effort. Patients with AS require support throughout their lives, which can be demanding. That said, patients and their families properly educated on the condition can make living with it much less taxing – a diagnosis is by no means a limitation.
What is Angelman Syndrome?
Angelman Syndrome is a congenital condition, though a difficult diagnosis is made more difficult still in infancy. Most Angelman diagnoses come between three and seven years of age, when spontaneous outbursts of laughter and accompanying seizures are more apparent than in extreme youth. These are hallmark traits of Angelman syndrome, and they’re a key factor in determining if a patient has AS or some other similar neurological disorder.
Some of the more peculiar behavioral symptoms sometimes experienced by AS patients include an affinity for shiny objects, increased sensitivity to heat, and a fascination with water.
That last aspect can be especially alarming for parents or caregivers, especially when combined with other factors (ataxia, poor coordination, lack of verbal communication) at play in Angelman patients. The world can seem especially daunting to families affected by Angelman syndrome, but with the right information and outlook it doesn’t have to be.
Minimizing the Risks Posed by Angelman
Supervision around water is important. Not all patients with Angelman syndrome experience the attraction to water reported by others, but given their predisposition to seizures and inability to effectively communicate, it is always important to ensure proper water safety.
Pool fences are a must. Kids with Angelman are still kids, and they will find a way to slip away unnoticed from time to time. Ensuring there is no unrestricted access to bodies of water is an important step in providing a safe environment.
If you decide to play in water sometime, a pair of floaties can make many parents feel more at ease with putting a child with Angelman in the pool. Professionally supervised pools can be a great choice, so there’s always a second pair of eyes looking for trouble. Knowing the visual signs of drowning can be a literal lifesaver – drowning people, even those who are neurotypical, can be difficult to hear.
Apply this level of thinking to aspects of safety outside just water alone. Learn what it looks like when someone is choking and cannot express themselves – being familiar with the Heimlich maneuver or size-appropriate equivalent would also be prudent. Make sure your child understand the hazards of the stove, and do your best to impress on them not to go anywhere with strangers.
If some of this sounds familiar to you, it’s because it’s basically the same advice you’d give to the parent of any young child. A healthy awareness (NOT a paranoid obsession) of the dangers that can be posed by everyday situations, that you might be used to overlooking, can go a long way. There’s no need to soft-pad every wall in your house, but do take stock of potential hazards as you notice them, and address them appropriately.
“Happy Puppet Syndrome”
That’s the old name for Angelman syndrome. It was coined by discoverer Harry Angelman, who noted the sunny disposition and spastic muscle movement common in his patients made them look like “happy puppets.”
Though obviously no longer the preferred nomenclature, Harry’s original term does remind us that living with a serious, life-altering condition is not all doom and gloom. Most people with Angelman go on to live full lives. Outside the preexisting physical complications that often accompany AS (scoliosis, ataxia, seizures), there does not seem to be an increased health risk associated with the condition. Many even develop ways of communicating with those around them.
It’s hard. I wouldn’t write otherwise because that would be a lie; but when you see a smile that genuine, or a contagious laugh, you start to wonder if maybe they know something the rest of us don’t.
Does someone in your family or someone you know have Angelman syndrome? Do you see a radical difference in their way of life? We want to hear! Share your story with the Patient Worthy community!
