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Rare conditions of Compassionate Allowance: Angelman Syndrome

As many of our readers already know, to be eligible for disability benefits, a person must have a disabling condition. When applying for benefits, they must present medical evidence that proves the extent of their disability and also supports their need for financial assistance.

But as our readers also know, this can be difficult sometimes, especially if you have a rare condition a doctor has yet to diagnose. Sometimes, a condition can be so rare, that your physician is unaware of its existence, which can lead to further delays in diagnosis.

It's because of this potential problem that we wanted to start a series on rare conditions. By showcasing a variety of rare medical conditions here on this blog, our readers may recognize some symptoms they are experiencing, which could then lead to a diagnosis. With a diagnosis, as we mentioned above, a person has a better chance of accessing the benefits they need and deserve.

This week, we wanted to highlight Angelman syndrome, which is part of the Compassionate Allowance list. This is a rare genetic condition in which part of the maternally derived 15th chromosome is deleted. This causes developmental delays that can cause intellectual disabilities, decreased cranial growth, poor muscle strength, scoliosis and difficulties with balance and coordination. The disorder also causes a patient to have jerky movements and speech impairment as well. A person with AS may only learn a handful of verbal words in their lifetime.

Although the Social Security Administration says that a diagnosis can come as early as 6 to 12 months, the Angelman Foundation believes that 2 to 5 years is a more common age, pointing out that the developmental delays associated with the syndrome become more noticeable at this age.

Although AS shares many of the characteristics of other neurological disorders, it is markedly different because of two particular symptoms: excessive smiling and laughter. Most patients with AS have easily excitable personalities and usually have a happy demeanor.

Although most patients with AS reach adulthood, around the age of three they start to develop seizures. Even though seizure severity does decrease with age, they do persist throughout adulthood, which may accentuate the need for disability benefits as a patient gets older.

Source: The Angelman Syndrome Foundation, "Facts About Angelman Syndrome," Jan. 1, 2009, 7th Edition

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