Achondroplasia, a form of short-limbed dwarfism, affects people around the world. It is caused by a mutation in the FGFR3 gene,or fibroblast growth factor receptor 3. This gene is responsible for coding for a protein involved in receiving signals to stimulate bone tissue development. The protein limits bone formation from cartilage, referred to as ossification. When the gene mutates, the body is sent into overdrive, affecting proper bone growth and skeletal formation. 1 out of 15,000 to 40,000 babies have this genetic abnormality.
Inheritance of the achondroplasia gene mutation is autosomal dominant, with two copies of the mutated gene exhibiting an even more severe case of the disease, usually resulting in a stillborn or infant death. Dwarfism displayed in an individual with average-sized parents is the result of a new mutation to the gene.
I have personal experience with this disease, as a close friend grew up with it. He functions almost completely normally in society; doing well and school and even obtaining his driver’s license. His biggest problem is bullying and discrimination from peers, though most friends who grew up with him are completely accepting of his condition. Maybe drawing attention to this disease will be able to eliminate bullying and stereotypes that surround dwarfism and other genetic disorders. Hopefully advancements in science will eventually result in treatment or a cure, but until then a short time fix could be eliminating ignorance about this disease.
This is interesting and unfortunately true that they deal with a lot of discrimination. I particularly don't see the issue- he's functioning just as well as any average height person; there's no need for the discrimination.
ReplyDeleteI could not agree with you more! It is such a shame the perspective that a large portion of our society has on genetic disorders such as this one. Hopefully knowledge and awareness of such disorders will lead to better understanding and societal acceptance.
ReplyDeleteI agree. So many people are so quick to judge others and discriminate it really is sad. I definitely think by raising awareness of genetic disorders we can overcome the discrimination these people face day by day.
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