Wednesday, January 28, 2015

WOMAN WITH THE GIANT LEG - MANDY SELLARS

    

Mandy Sellars is a woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs.
In 2006, some doctors diagnosed Sellars as having Proteus syndrome , a very rare condition thought to afflict only 120 people worldwide,but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her affliction as a rare form of Proteus Syndrome.

Sellars was born with abnormally large and misshapen legs and feet, which continued to grow at a disproportionate rate. In a November 2009 interview, she estimated that she weighed about 21 stone (294 lb or 133 kg): 6 stone (84 lb or 38 kg) for her upper body and the remainder in her legs and feet (210 lb or 95 kg).
Doctors were unable to provide a diagnosis for many years, until some doctors decided on Proteus syndrome in May 2006, though Sellar's condition is atypical in many respects.




MANDY SELLARS AS A CHILD



When she was born, doctors were unsure if she would survive very long. However, she was walking at about 18 months. When it was recommended to her mother June that the then seven-year-old have her legs amputated, June refused in order to provide as normal a life as possible for her child.


At 19, Mandy Sellars moved out to live on her own. She obtained a B.Sc. in psychology from the University of Central Lancashire, and succeeded in maintaining an independent lifestyle as an adult, with no live-in helpers. She gets around using crutches or a wheelchair, and has a specially modified hand-controlled car.
When Sellars was 28, she suffered a deep vein thrombosis, which left her paralyzed from the waist down for about six or eight weeks. Afterward, she had to learn to walk again.Three years later, she got a blood infection, her kidneys failed, and she contracted MRSA.

Her left leg had to be amputated above the knee in 2010. 22 months after the surgery, her leg began to grow at an accelerated rate and her limb began to balloon again. Almost straight away, the stump began increasing in circumference and it became harder to fit inside the prosthetic leg.The stump eventually got so heavy it nearly broke the prosthetic leg. Her leg now weighs three stone (42 lb or 19 kg) and has a circumference of one metre (3 ft).

PROTEUS SYNDROME also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf Wiedemann), is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumours over half the body.

Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels.
Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Tumors of skin and bone growths appear as they age. The severity and locations of these various asymmetrical growths vary greatly but typically the skull, one or more limbs, and soles of the feet will be affected. There is a risk of premature death in affected individuals due to deep vein thrombosis and pulmonary embolism caused by the vessel malformations that are associated with this disorder. Because of carrying excess weight and enlarged limbs, arthritis and muscle pain may also be symptoms.

TREATMENT

No cure for this syndrome although recently a team of doctors in Australia have trial tested the drug Rapamycin in the treatment of a patient said to have Proteus syndrome and have found it to be an effective remedy.



SOURCE: WIKIPEDIA.ORG

1 comment:

  1. My wife (cardiologist surgeon) and 2 daughters (recently out of residency and taking more schooling for their respective specialties) are MD's as are many others on my wife's side of the family who were always in the science and medical field. Sorry but from what is going on in the medical community outside of the US is that she does NOT have PS or any rare form of it. And NONE of those reports are from reputable sources. Remember Miss Sellar's case is very very unique as is PIK3CA which is extremely rare and she is just one of those who is followed very closely in the medical community my wife and daughters are born and raised in Japan all studied medicine in Japan and the US. My wife and one daughter are in the US. My other daughter and our 3rd daughter (university)are back living in Japan I myself am from Germany. And we all know Japan and Europe are well ahead of the US in many factors including medicine. Point is many in the US for some reason like to promote causes or cases to suit their own and riding the tails of people like Mandy is one imo disrespectful to get attention.

    Now I just came upon you site by chance I do not know if you have a reason to say it may be PS etc. But I and most if not all Dr's and scientists never get their info off the web as I see your source is Wikipedia which is well known to have the most inaccurate and flatout BS site around that it is not even allowed to be used in Schools and Colleges as a source. And 100% of the journals Ive read is that it is NOT PS. She shows no genetic trace of it.

    No Offense but please use reputable and verified sources in the future.

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