Rare diseases: Legs that grow nonstop

It is considered a rare disease, according to WHO, one that suffers a small number of people, 1 out of every 100,000 people.The question is that since they are diseases that affect very few individuals there are no extended studies or social awareness about themselves and these people have less support than we would like them to receive.Today we will tell you a case like so many others are in the world and that will help us understand the reality of some of these people.

Mandy Sellars, the woman whose legs grew nonstop

Mandy Sellars , a native of the United Kingdom and born in 1975, was accompanied since childhood by a rare condition that made his legs extremely long, large and asymmetrical.His feet were deformed and the worst thing is that they did not stop growing so early on the doctors warned that there would come a time when he could not walk.This also brought I get a shortening of hope Mandy's life.Fortunately, and against all odds, this woman fighter is still alive, learned to walk and even went to school like the rest of the children.

Mandy led a relatively normal life until at the age of 30 years suffered a very serious infection in one of his legs that had to be amputated.While for all this would be a very hard blow, Mandy saw the positive side.At least he had gotten rid of one of those annoying limbs that kept growing.

https://www.youtube.com/watch?v=qVtxOjsxBX0

However, it wasn't like that, the munon I am soon started to grow out of control until after a few months I reach a circumference of about 3 meters, something really amazing.

A story with a happy ending

The doctors made several inve stigmations until finally they found the cause: there was an alteration in the DNA sequence.His PIK3CA gene is mutated in the cells of his legs.To understand it simply, in Mandy's legs there is a defective protein that is always active and constantly sends growth signals.

Rare diseases: Legs that grow nonstop

But for Mandy there has been a solution.Thanks to very fortunate research, Rapamycin was discovered, a substance capable of blocking the action of the protein called mTOR and participating in the way of signaling the gene PIK3CA.Mandy, after taking it, has not only seen the growth of his legs slowed down, but has also been able to experience a slow decrease in them.

Hopefully all the stories of this type had a happy ending.

Image Photos GOVBA

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