The documentary Prader-Willi Syndrome: A Life Unexpected, follows a number of British individuals with the incurable genetic disorder, Prader-Willi syndrome (PWS). This disorder, which was first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler and Guido Fanconi of Switzerland affects an estimated 1 in 25,000 to 1 in 10,000 live births.
The disorder is caused by a deletion or unexpressed set of seven genes on chromosome 15 (q 11-13) on the paternal chromosome. The particular region of chromosome 15 that is affected is subject to parent of origin imprinting, meaning that only one copy of the gene is expressed while the other is silenced through imprinting. In the case of PWS it is usually the maternal copy that is expressed while the paternal copy is silenced. This means that most people have one functioning copy of these genes but those with PWS have no working copies.
The sister syndrome to PWS; Angelman syndrome also has maternally derived genetic material affected in the same genetic region as PWS.
This documentary provides a unique insight into living with this rare and incurable condition and shows how those living with it cope day to day. It gives viewers an understanding not only about PWS but also about the psychological impact this condition can have on family members and friends too. It highlights how family support plays a key role in helping those living with this condition stay productive and independent for as long as possible.
We highly recommend watching Prader-Willi Syndrome: A Life Unexpected as it provides viewers with a comprehensive overview into living with this condition and offers an inspirational look at how individuals manage despite their daily challenges posed by this rare disorder.
