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26-year-old twin sisters turning to stone due to a rare genetic condition

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition that affects one in two million people in the world.

Written by Bhavyajyoti Chilukoti |Updated : July 18, 2017 3:05 PM IST

When you think of a rare or weird disease, the first thing that comes to the mind is progeria, thanks to the movie Pa, where superstar Amitabh Bachchan portrayed the role of a kid suffering from this genetic condition. Nihal Bitla was a real life example of progeria and his story showed what it is like to raise a kid with progeria in India. Now, there's news of 26-year-old twin sisters, Zoe Buxton and Lucy Fretwell, from Northern Ireland, slowly turning to stone. If reports are to be believed, they are one of just three twins across the globe to have the rare condition. If you have heard about this or have come across this WhatsApp forward, then read to know what is it and what it means to live with this condition. Also, read about 10 weird medical conditions that will shock you.

FOP -- What is it?

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition that affects one in two million people in the world [1]. In this condition, the bones form in the muscles, tendons, ligaments and other connective tissues. This causes the bones to replace the muscles and tendons forming a second skeleton. As the bones develop across the joints, it restricts the movement.

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A child suffering from this condition appears healthy, although bent great toes are observed at birth. In most cases, the kids lead a normal, active life although, in some cases, they might have impaired neck movement. Another common symptom of FOP is impaired hearing. As the child grows (around five years), she might experience painful swellings that develop into hard bumps containing bone. These events start to appear in the upper back and neck and slowly progresses to the trunk, arms and legs [1].

Hence, people suffering from this rare genetic condition have shortened big toes at birth, limited movement and swelling. As the condition worsens over time, the body slowly starts to look like a living statue (stone). Unfortunately, there is no effective treatment for the condition, but the treatment is aimed at relieving pain and improving the quality of life of the patients.

Also, read three-year-old girl from Hyderabad cries tears of blood because of a rare condition; father looks towards KCR, PM Modi for help

References:

1. Shore, Eileen M. Fibrodysplasia Ossificans Progressiva (FOP): A Human Genetic Disorder of Extra-Skeletal Bone Formation, or - How Does One Tissue Become Another? Wiley interdisciplinary reviews. Developmental biology 1.1 (2012): 153 165. PMC. Web. 18 July 2017.

Image Source: Shutterstock (Image for representational purpose only)

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