My name is Emil Chalhoub and I’m a fairly normal guy. I live in Melbourne, Australia. I love my Australian Rules football. I’m a big fan of Adam Sandler movies. I love my mum’s cooking. But I also live with Bardet-Biedl Syndrome.
Bardet-Biedl Syndrome (BBS) is a debilitating genetic disease that impacts an individual with a variety of physical disabilities. It restricts a person’s life and it’s something very difficult to live with.
This is my story. I want to share how I learnt to live with my disability and how I learnt to live beyond it. I hope my story helps to raise more awareness about this rare disease and I hope I can help inspire others to live beyond the restrictions they experience in their lives.
I’m thankful to you, the reader, for taking the time to read my story. I hope you find it interesting, enlightening, a bit funny and even inspiring. 🙂
– Emil Chalhoub
About Bardet-Biedl Syndrome
[Description adapted from Genetics Home Reference]
Bardet-Biedl Syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Vision loss is one of the major features of Bardet-Biedl syndrome. Obesity is another characteristic feature of BBS. Other major signs and symptoms of BBS include the presence of extra fingers and/or toes, intellectual disability or learning problems, and abnormalities of the genitalia.
Additional features of BBS can include impaired speech, delayed development of motor skills such as standing and walking, behavioural problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers and/or toes, and a partial or complete loss of the sense of smell have also been reported in some people with BBS. Additionally, this condition can affect the heart, liver, and digestive system.
Bardet-Biedl Syndrome is named after Georges Louis Bardet, a French physician (born 1885) and Artur Biedl, a Hungarian pathologist and endocrinologist (born 1869). It is a genetically heterogeneous autosomal recessive condition. 14 BBS genes have been identified to date.
This blog was written by Michael Wos as a favour to Emil Chalhoub. Any edits made after 23 March 2015 are not those of the author, Michael Wos.