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This week, we’ve been covering some rare conditions that deserve more attention. Like fibromyalgia, these conditions lack a lot of the public awareness and research funding that they should be getting. And with that in mind, let’s look at one such condition: Angelman syndrome.
Angelman syndrome is a rare condition, occurring in around 1 in 15,000 live births. The symptoms are similar to other genetic conditions like cerebral palsy. And it has many of the same health effects. So what is Angelman syndrome? And how is it treated?
What Is Angelman Syndrome?
Angelman syndrome is a condition caused by a genetic mutation. Certain people carry genes that contribute to it and when two carriers have a child, there is a chance that they will develop the condition. Scientists have identified a number of genes that they believe to be responsible. And if you’re concerned, genetic testing can help you assess the risk of having a child who will suffer from genetic disorders. Surprisingly, most people with the condition don’t have a family history of it. The role of heredity and genes is not completely understood yet when it comes to Angelman. The condition itself is rare, but the effects are devastating for the people who suffer from it.
The most defining characteristics of the disorder are developmental delays. And the symptoms can often be misdiagnosed as cerebral palsy or autism. The condition causes a loss of ability to control the limbs and can affect the ability of the affected child’s brain to fully develop.
It is sometimes called “happy-puppet syndrome” due to the fact that people who have it tend to move their limbs in strange ways and often have happy, excitable personalities. The first signs are basic developmental delays like taking a longer time to learn to speak or walk than normal. Around the age of 2 or 3, seizures can become common.
As children with the condition age, they often have a hard time controlling their muscles and may never develop the ability to speak normally. And as time goes on, there may be other symptoms like frequent tongue thrusting, frequent jerking of the head, and sleep disorders.
In addition, some complications can arise. These include hyperactivity, which can make it difficult for sufferers to focus on a single task, and a large appetite, which sometimes leads to obesity at a higher rate than normal.
These complications and developmental delays affect the life of someone with the condition drastically. Most are disabled and unable to get the same quality of education or attain careers that other people enjoy. With that being said, people with the condition can live meaningful lives and overcome much of their disabilities. They simply require a bit more help than others.
How Is It Treated?
Like many rare genetic diseases, there is currently no cure for Angelman syndrome. The most promising research involves study into the genetic interactions that lead to conditions like this. There is hope that one day this research may make it possible to eliminate genetic diseases. But if someone currently suffers from Angelman syndrome, it is unlikely that they will ever be able to completely reverse the developmental disability it causes.
At the moment, the best we can hope for is managing the condition and helping support people who suffer from it live healthy, productive lives. To that end, most people who suffer from Angelman need to undergo extensive therapy to help with everything from developing speech to learning to walk.
With the right support, there is no reason that someone who suffers from it can’t live a long, happy life. There’s no indication that the condition leads to early mortality. And the average lifespan of someone with the condition is the same as someone without it. But most people will require specialized care and therapy like this for the majority of their adult lives.
The Angelman Syndrome Foundation (ASF) is currently the largest supporter of nongovernmental research into the condition. Thus far, they have managed to raise over $8 million dollars to support projects designed to help people who suffer from the condition live normal lives and help with the progress of scientific research.
If you want to help develop a cure for the condition or help improve the lives of those who suffer from it, consider making a donation. Alternatively, there are a number of ways that you can help by raising awareness and participating in some of the charitable events the Foundation runs to raise funds for research.
So let us know, do you have a loved one who suffers from the condition? What would you like others to know? Tell us in the comments.
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