? Proteus Syndrome

Last Updated on 25/02/2013 by Vivien Ayinotu

 I came across the story of a Lady with a rare condition and how she has been able to cope positively with it.

Mandy Sellars.

  Proteus Syndrome is a very rare condition and can present in various forms.

• It occurs as a result of genetic mutation. The affected cells continue to multiple exceedingly and produce more malformed cells.
• This condition starts while in utero; when the baby forms during pregnancy and continues throughout lifetime
• It does not run in families and thereby, cannot be inherited. 

In the case of this Lady, the condition extremely difficult. It was in the year 2006 that Doctors decided to name her condition as Proteus Syndrome after years of varieties of tests including DNA tests.

Her Condition

• Her legs grew massively. 
• At a time,  her upper body weighed 38kg while the lower part weighed 95kg. She wears only trousers specially made by her mother and outgrows them in a short duration.
• Has had deep vein thrombosis; formation of blood clots.
• Consequently, she was paralyzed for few weeks.
• Developed Sepsis;Infection of the blood
• Suffered kidney failure
• Had MRSA; Methycillin-Resistant Staphylococcus Aureus( a bacterial  infection).
• Later, her infected left leg was amputated.
• Unexpectedly, the stump grew out of proportion when compared to her right leg. It’s width went up to 2m i.e same as a size 34.

Her Lifestyle

She is a very cheerful person and enjoys having fun despite her condition. Her parents have been there for her and had given her all the care and support she needed. She said she has always got anything she asked for and only got to knew how about how abnormal she is during her teens.

She has a degree in Graphic Design and Psychology and has studied courses such Sociology, Criminology, Sign Language and Mediation. In addition, She has worked voluntarily in different fields. She lives alone though family and close friends always pop in to know how she is faring.

She has a specially designed wheelchair and a special car. And does cooking, washing and cleaning by herself.
As a very independent and optimistic person , she hopes one day there would be a cure for her condition.

According to her, her condition do not affect her love life as she has previously been in two long-term relationships. She enjoys hanging out with friends and going places.

However, she has always feared she could be bedridden by the time she turns 85 years if her condition worsens.

Hope

Following a  recent DNA test and researches, a drug has been identified which could help her shrink her legs. She has commenced it and within  three months a significant improvement was noticed.

For the first time, X-ray showed the size of her legs were reducing rather than its usually increase.
She had noticed that because her trousers fits her properly and her mother has not made new ones but waited patiently to hear from the health experts. She and her parents were thrilled on hearing the news, just like they were the day they heard a tiny drug could do the job.

Hopefully in the next couple of years there would be a tremendous reduction in her legs.

Rapamycin

This is a drug commonly used to prevent organ and bone marrow transplants rejection.

It is found  to be very useful in Mandy Sellars case as it stops a specific protein that is involved in cell division. Nevertheless, its side effects include lung toxicity and increased risk of cancer.

 Lastly, in some sufferers, this abnormal body enlargement could be seen in the abdomen, around the chest and on the hands. Other signs and symptoms can be present, depending on sites affected. Follow @AyinotuV