Drug Shows Promise Against Rare Condition That Stunts Kids' Growth

 

This article writes of a new medication said to aid children with achondroplasia, which is a rare bone disorder that results in disproportionate trunk and limb size. Their maximum height is on average 4' 6. There were 120 children who were administered this new drug, vosoritide. The hope was that it will give the possibility of greater height and improved proportions. They were administered this drug for two years with excellent results. The patients ranged from ages 5 to 18. Before this study, these children averaged 1.67 inches in height within a year. Then with one year into the trial, the children had gained an average height of 2.23 inches. The next year added an extra 2.19 inches of height, on average. The drug also aided in improving body proportions and did not disappear over time. 

I chose this article because of its positivity. I was happy to hear that this study was in fact a success and nothing waned over time. I am sure people with achondroplasia become sad at times, and having the possibility of this new drug as treatment is amazing!

Achondroplasia Awareness

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.