Story of Multiple Epiphyseal Dysplasia

Story of Multiple Epiphyseal Dysplasia

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A very rare disease which you will misdiagnose most of the times.

Let’s me introduce you to this skeletal system disorder called Multiple Epiphyseal Dysplasia.

I have a Friend of mine who has a deformity in both of her legs and being a medic I had a very simple diagnosis in my mind which of course I never discussed with her. But suddenly a few days back she was very depressed and she wanted my help so she said to me. Hey, can you suggest me some simple ways to prevent it from getting more deteriorated?

That was the moment I was stunned and I started to go into the depth of my ignorance.

In a curious manner, I asked her what is the thing that you feel is getting worse. She replied to me that now she cannot sit on a motorbike because the distance between her legs was getting lesser with time and she has a waddling gait. She also said that she cannot even squat and many of the body postures which we do so subconsciously aren’t possible for her and is the reason for her depression. She added that her younger sister had even worse symptoms which also included pain along with postural defects and bowed legs.

Later I discovered that it was a disease which ran in her family and they inherited it from their mother who also had the same disease. So it was her mother and my friend with her younger sister and a younger brother who had the same condition known as Multiple Epiphyseal Dysplasia.

It is a rare disease so not many physicians know about it. People suffering from this disease have very fewer chances of getting a proper treatment in time as it is apparent only after 10-12 years that this becomes physically appreciable in the manner of bowing of legs towards outside and associated knock knees most of the times.

The diagnosis of this condition is very difficult as it requires sophisticated multidisciplinary setups with a facility of Genetic and Molecular Testing.

There are not many treatment options available as many it is claimed that the disease cannot be cured completely but only a few modifications can be made surgically to avoid the daily life problems related to sitting and posturing. Surgeries might include arthroplasty and joint replacement to correct the deformity.

The best approach is to reduce the effects of deformity by regular physiotherapy, weight control, and Psychological Counseling.

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Sneha | Proud member of MEDGAG | Author

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