Mandy Sellars, 32, from Lancashire, suffers from Proteus syndrome, a condition also thought to have affected the “Elephant Man”, Joseph Merrick.
Although she was born with abnormally large legs and feet – which continue to grow – her body is of average size.
Doctors may have to amputate in the future, but Ms Sellars says she wants to raise awareness before it happens.
Proteus Syndrome is only thought to affect about 120 people worldwide, which ensures Ms Sellars receives some stares in public.
I quite fancy having a go at snowboarding actually, maybe paragliding or white water rafting would be wonderful
“I expect people to look – I think that’s quite inevitable because I would if I was in their position – but a smile can bring so much to one person,” she said.
She told the BBC of her relief at finally being diagnosed with the condition in May 2006, which allowed her to meet other sufferers.
“I wanted to belong,” said Ms Sellars.
“I wanted to find other people that had the condition, and to be able to relate to them and them to relate to me and know what it’s like to live with this condition and how different it is.”
Mandy was born with oversized limbs
Proteus Syndrome is an extremely rare condition which involves atypical growth of the bones, skin, head and a variety of other symptoms.
The name comes from the Greek god Proteus who could change his form.
There is no known cure and if Ms Sellars limbs continue to grow – her feet are 16ins long while her legs are 35ins in diameter at the bottom and 28ins at the top – doctors say they will have to amputate.
“I have goals for when that does happen,” she added.
“Why not? It can be a different life. It could be a more adventurous life. Things I can’t do now I might be able to do then.
“I quite fancy having a go at snowboarding actually, maybe paragliding or white water rafting would be wonderful, it really would. So you never know – watch this space.”
Thursday, June 25, 2009
It’s surprising how much we take for granted until we read a story like Brooke’s. How often do we say babies are a “Miracle”? Let’s take it a step further and not only use the word Miracle but include the words” Miracle and healthy”?
Normally you would expect your 16 year old daughter anxiously hoping she will be asked to the prom, get her drivers’s license or at least permit, etc. I know when we were expecting our daughters I can honestly say I didn’t give those words a second thought. I did think about it but mostly as a passing thought. How blessed we are!! …..flagranny2
To learn more about Brooke, watch “Child Frozen in Time” at 10 p.m. Sunday, Aug. 2 on TLC.
Friday, November 28, 2008
The 4-day-old girl is being cared for at the Bengal Medical College, which is located on the outskirts of Siliguri, India.
“This is a very rare case, we are not sure if we can perform surgery to put her heart and liver back, but we’ll try our best,” said Miridula Chatterjee, a child specialist.
Last year, then 2-year-old Lakshmi Tatma, underwent surgery in Bangalore, India, to remove six extra limbs and a parasitic twin.
The surgery took 27 hours and Lakshmi has been able to live a relatively normal life ever since. Lakshmi’s surgeon spoke to FOX News’ Bill O’Reilly in June.
By Kate Sikora
September 24, 2008 12:00am
SOURCE: The Daily Telegraph – AU
IT costs as little as $2 and until now has been considered little more than a toy, but a simple ping-pong ball is keeping liver transplant patient Mackenzie Argaet alive.
In a world first, a Sydney surgeon has used the radical method in a transplant operation, which has won him international accolades.
Dr Albert Shun, from The Children’s Hospital at Westmead, used the unorthodox approach when confronted with a medical problem while operating on the two-year-old.
Born with biliary artresia, Mackenzie, from Canberra, needed the life-saving operation earlier this year.
But after inserting a portion of the adult-size liver in the little girl, Dr Shun discovered it was too big and was placing pressure on her blood vessels which could have been fatal.
Having heard about the use of ping-pong balls in operations overseas, he decided to test their suitability in transplant surgery.
“I rang my wife and asked her to go to Big W and buy me some ping-pong balls,” he said.
“I was using a sponge as a back-up purpose but there was no way I could close her up the way it was.
“She is the first (transplant patient) in the world that the ping-pongs have been used for these purposes.”
In Mackenzie’s case, the ball keeps the liver off the arteries. Since Mackenzie’s operation, Dr Shun and his team have performed the procedure several times.
However, the ball has only remained in the patients for a few days to allow the swelling to reduce after the transplant.
Dr Shun said Mackenzie’s liver would grow around the ball without causing an infection.
“There shouldn’t be any complications. We are in a unique situation in Australia because we have a low donor rate so we have to be adaptable,” he said.
Unaware she has a foreign object inside her body, little Mackenzie is now running around like every toddler her age.
Her parents Letice Darswell and Guy Argaet are thrilled their daughter is well after she was so seriously ill from birth.
“We didn’t get told about the ping-pong until after the operation,” Ms Darswell said.
“It was a shock when (Dr Shun) came out of surgery.”
Biliary artresia is a rare gastro-intestinal disorder in newborns where the ducts that carry bile from the liver to the intestine are destroyed. Mackenzie’s liver became so scarred that she began to develop cirrhosis and needed a transplant.
“She is so normal now. She is a happy kid,” Ms Darswell said.
Friday, September 19, 2008
Source: Associated Press
NEW YORK — It apparently takes a visit by the world’s shortest man to bring New York City to a halt.
Cab drivers, police officers and other busy New Yorkers paused in their hurried lives to look at tiny He Pingping as he walked along 42nd Street in Manhattan on Thursday.
The 20-year-old Chinese man is 2 feet 5.37 inches tall. He was in the city to launch the 2009 edition of the Guinness Book of World Records. He is listed as the shortest man on the planet.
His brother-in-law told the Daily News in Friday editions that coming to New York is “like a dream” for Pingping, who lives in Mongolia and was born with primordial dwarfism.
Crowds in Manhattan stopped to gawk wherever he went. His brother-in-law said Pingping likes the attention.
Friday, August 01, 2008
11 year old girl suffers from rare health condition that causes one’s skin to turn to stone…….
[This is a rare disease I have never heard of but certainly can image how hard it must be on her parents to watch and the digression of their daughter’s condition…. ]
Young girl’s skin is turning to stone as she suffers from a rare, incurable disease called acute systemic scleroderma, Scotland’s Daily Record reported Thursday.
The autoimmune disorder means Hope Barrie’s body produces too much collagen, causing her skin to tighten and harden.
It is difficult for the 11-year-old from Tarbolton, Ayrshire, Scotland, to move around, and she has already had to give up one passion.
“I loved playing the violin and it would be amazing to start playing again,” Hope said.
Hope suffers from the systemic version of the disease, which starts out with poor circulation in the fingers and progresses to thickening of the skin, according to the International Scleroderma Network’s Web site. The disease may even spread to her organs.
As the disease progresses, the hardening of the skin makes it difficult to move fingers and toes, and open the mouth. It also can form scar tissue around the internal organs.
In America, the disease affects about 300,000 individuals [ which in my opinion is too many not be aware of ] many of whom are females between the ages of 30- to 50-years-old at the disease’s onset, according to the International Scleroderma Network.
Hope’s family told the newspaper they’re hoping that pioneering stem cell treatments being done in the U.S. may also help Hope, who is currently undergoing chemotherapy to fight the disease.
Although there is no cure for scleroderma, researchers at Virginia Mason Research Center and Duke University Medical Center are working with a stem cell procedure that has been shown to reverse the symptoms of the disease.
Emily Woods, of Plano, Texas, had the experimental procedure in 2006, according to a New York Times article. Within six months, the 87-pound mother — who had been close to death — was back on her feet and enjoying her daughter, the article said.
The transplant process involves doctors removing the stem cells from a patient’s own blood cells and returning them to the body, where it is hoped they will regenerate.
[ I know I came across “Gastroparesis” when a good friend of mine called and told me she had been diagnosed with this condition and I was just recently diagnosed with a condition called “hyperparathyroidism”. It just makes you wonder how many diseases there are that we don’t know about. I’m thinking of starting a blog on rare conditions that need public awareness. If anyone would like to help me work on this project just let me know……flagranny2 ]
Thursday, July 17, 2008
Twins with different skin colors — one black and the other white — have been born in Berlin, Germany.
Doctors say it is an extremely rare occurrence, but it is possible if genes combine in a certain way.
The twin boys, named Ryan and Leo, are the offspring of a mixed-race couple.
The mother, Florence, hails from Ghana in western Africa, and dad, Stephan, is from Potsdam in Germany.
“Ryan came first, and everything was as usual,” said the hospital’s doctor, Birgit Weber. “But when Leo was born, I couldn’t believe my eyes.”
“Both kids have definitely the same father,” the doctor added.
Monday, June 30, 2008
Two airlines this weekend declined to fly Miranda Goranflo and her daughter Hailey to Beijing, where the 5-year-old was to receive stem-cell treatments for a rare fatal disease, the Courier-Journal reported.
The airlines, Air China and Air Canada, decided during a layover in Vancouver, British Columbia, that Hailey was “too sick” to fly this weekend. After being treated at a Vancouver hospital for seizures, the girl and her mother were forced to fly home to Shepherdsville, Ky., the report said.
“I’m completely distraught,” Goranflo, who disagreed that her daughter was unfit to fly, told the Courier-Journal from Vancouver. “I cannot believe we’ve come this far and we have to come home.”
Hailey and her 3-year-old brother Carter suffer from an incurable disorder called Late Infantile Batten Disease. The disease causes seizures, dementia, and blindness. Most sufferers don’t make it beyond the age of 12. Hailey can no longer walk, talk or eat without a feeding tube, the report said.
Batten disease is relatively rare and occurs in an estimated 2 to 4 of every 100,000 live births in the United States, according to the National Institute of Neurological Disorders and Stroke.
After raising $78,000, Hailey’s parents planned to take her to China for an experimental stem-cell treatment that is not offered in the U.S.
Friday, May 30, 2008
O’Neal, of Kirkland, Wash., said he knows his deformity is shocking — but he refuses to hide like other people with his disorder.
[This is an awesome and heartwarming article I came across. The admiration I have for this man is tops and I truly commend him for doing what he does as you will see if you click on the link to see the photo. I must warn you it is quite a shocking picture and probably not for the faint of heart but the article that is included with the picture shows such compassion for someone who has not let his physical disease/appearance hinder him in anyway…flagranny2]
James O’Neal compares himself to John Hurt’s character in the 1980 film “The Elephant Man.”
A genetic disease known as neurofibromatosis has left O’Neal’s face horribly disfigured, but several surgeries may be able to reconstruct his facial features.
Although it was at one time believed that Joseph Carey Merrick, the subject of the 1980 film, also suffered from neurofibromatosis, he actually suffered from Proteus syndrome, a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.
Gina Agiostratidou, a biologist and scientific program manager for the Children’s Tumor Foundation in New York, told FOXNews.com that there are three types of neurofibromatosis: NF1, NF2 and schwannomatosis.
All three are caused by deletions or mutations of certain genes. NF1, which is the type suffered by O’Neal, is characterized by large benign tumors that grow on the cranial nerves, face, brain and spinal cord. The disease occurs in about 1 out of every 3,000 births and is more prevalent than cystic fibrosis, according to the Children’s Tumor Foundation.
NF2 is much rarer, occurring in 1 out of 25,000 births. It causes tumors to grow on the cranial and spinal nerves, as well as both auditory nerves. It often results in hearing loss beginning in the teens and 20’s.
Researchers know very little about schwannomatosis. It occurs in about 1 out of every 40,000 births and symptoms differ greatly among sufferers, according to the foundation.
O’Neal, of Kirkland, Wash., said he knows his deformity is shocking — but he refuses to hide like other people with his disorder.
“I just tell people this is who I am, it’s the way I am,” O’Neal told KOMONews.com. “If you don’t like me, you don’t like me.”
But O’Neal — who works as a cashier at Kingsgate Safeway — is well-liked by his customers.
In fact, his regular customers said O’Neal is an “inspiration” and they have started raising money for his surgeries, since insurance likely will not cover the full cost.
“He is an amazing man, and we love him,” said customer Aubrey Richins. “He’s the kind of person that makes your day.”
At the moment, there is no cure for neurofibromatosis, Agiostratidou said.
“There are so many different manifestations of the disease,” she explained. “Surgery is usually a last resort because it does affect the nerves and removing the tumor can create paralysis of the nerve. Currently, the treatment includes chemotherapy (and then) surgery, and we are working on clinical trials for different medications, but it is still very early for us.”
Contributing: Marrecca Fiore, FOXNews.com health editor