Sarah Mumper, 23, was born with fibrous dysplasia, a rare bone disease that is also characterized by the ‘cafe-au-lait spots’ that have been visible on her cheek and neck since birth
When the California surgical assistant, Sarah Mumper, 23, was only two and a half years old, she was diagnosed with McCune-Albright syndrome or fibrous dysplasia, a rare condition that affects the skin, skeleton, and certain endocrine organs.
Initially, Sarah’s symptoms were subtle: the appearance of faint birthmarks, a light limp, and a small lump on the right side of her jaw that her mother felt when she brought the then-toddler to bed.
Her bones were so delicate that simple tasks such as going up and down the stairs could disrupt her joints.
As she grew up, she became more active, and although doctors encouraged her not to play contact sports, Sarah joined sports clubs for basketball, football, kickball, and PE.
When she was only 10 years old, she broke her left hip while playing dodgeball and was told to prepare for surgery the next day.
Sarah – who was then diagnosed with McCune-Albright syndrome – was terrified that the operation would be the first of many in the course of her life, a fate with her illness.
Although she did not have to continue operating as he feared, Sarah has had to use a wheelchair since that first hip operation.
She once thought her ‘life was over’, but has now continued to overcome her fears. She played an important role in the interpretation of the nutcracker of the Sacramento ballet, worked full time, lived independently and even encouraged others with disabilities to pursue their own passions.
When Sarah learned about her illness as a child, she knew she had to avoid contact sports to maintain her bones, but she struggled to fight her own active nature
Although they probably knew it quite early in her life – due to the “cafe-au-lait spots” that tainted her skin, Sarah’s parents released the news about her illness quite slowly.
“I can’t remember that there was ever a” big conversation “or something like that. I remember there were small conversations with my parents, “says Sarah.
“It was as if they raised things when they came up, but they also addressed the major problems that may affect me later in life, so I was prepared.
Sarah was encouraged to avoid contact sports in PE and while playing with friends during primary school, but that did not go well for her.
“It worked occasionally, but most of the time the active child in me couldn’t resist playing basketball with the boys, soccer or kickball at PE,” she says.
Sarah’s body was also different from her peers in other ways. Like many girls with fibrous dysplasia (and some boys), puberty came early for Sarah.
As young as two and a half, Sarah’s mother noticed a small lump on her daughter’s cheek. Sarah recalls that she feared that other children would not play with her because her illness made her different, but soon she heard that she had a strong support network of family and friends. Pictured: with her grandmother
At the age of 10, Sarah had to use a wheelchair much of the time after breaking her hip in a kickball game. During high school she was worried about the opportunities that would block her disability
But she was just as prepared as any young girl, thanks to her own curiosity.
“I learned more about my illness the more we went to the National Institute of Health’s for the natural history research I am a part of,” Sarah explains.
“I wanted to be actively involved and learn as much as possible so that I could take charge of my health and advocate for myself and now I hope to be an advocate for the newly diagnosed.”
Because fibrous scar tissue grows in her bones, Sarah’s skeleton is weak and bends abnormally in certain places. Pictured: an X-ray of her fragile legs
So she was not shocked when her period became irregular and her limp was more pronounced.
But the disease became increasingly difficult to ignore. Playing dodgeball against the advice of her doctors sent Sarah to the ER and she and her mother knew that this would not be the standard trip most 10-year-olds would face.
“I remember that my mother and I were in the car and we were both just in tears,” she recalls.
“It felt like a death sentence because some people who undergo surgery with my disease have to undergo surgery for the rest of their lives. It’s an endless cycle because my bones can’t hold the hardware for long. ”
Fibrous dysplasia owes its name to the fibrous scar tissue that grows instead of bone.
The abnormal growths affect the structural integrity of the bones, making them weaker, more vulnerable and prone to fracture.
Only one in about 1,000,000 people has this disease.
“I can’t weigh my hips too long when I walk around. When I was younger, I walked and walked with a light limp and over time it became more and more prominent, “says Sarah.
Sarah has overcome her fears of being limited by her wheelchair or being lonely and has done everything from crowd surfing at concerts (photo) to an important role in a ballet
Sarah slowly switched to her wheelchair, although for years something as simple as walking up the stairs could disrupt her joints. Pictured: with her family and boyfriend
“I remember being aware of how difficult it was to walk up and down the stairs to my own room.
“I would come up with more excuses until I just said that on some nights I can sleep on the couch more easily than on others.
“My mother and sister once moved my room to our conservatory where I could still have my own space and the comfort of my room, and then I lived on the street with my brother in his one-storey house.”
Sarah says her entire life has been a learning curve about the different ways in which her illness could have limited her life, but this will not stop her from pursuing her dreams.
“When I was five, I broke my knee by falling on the asphalt in the playground and had to use a walker,” she said.
“I was so scared that I would be too different from the other children I had cried to school. My father talked to my class about why I needed a walker and who would want to play with me for a few weeks because I couldn’t play in the playground.
“I remember seeing every hand rise in my class that would rather stay inside to play board games with me as I got better. They even made a huge book that they emailed when I was with NIH that year. ”
That year was the first of an ever-growing collection of evidence that although her illness poses unique challenges to Sarah, she is far from alone and has the support of friends, family, and even strangers, she says.
But it was a difficult road.
In addition to her friend (whose identity she did not reveal), Sarah traveled to Alaska
The couple also ventured together to one of Sarah’s favorite places, Disney
“When I was younger, I had trouble not being able to do much of the activities that the other children could do. High school to high school, I struggled a lot with self-acceptance and realized that it is not a death sentence, “says Sarah.
“In my young adult life it was how I could get a job that would accept my situation.”
She has done that and built a full life for herself, but must constantly adjust her pain management tactics to control the disease and disrupt her daily activities.
“I feel that I have adjusted fairly well to my life, but like everyone else, I am still trying to figure out what exactly I want,” says Sarah.
“I am relatively healthy, I have a job that pays my bills and I try to contribute my gifts to the world so that it will hopefully be better for the next person whose journey may be mine.”
‘I just learned not to hold on to unrealistic expectations and to control my happiness. When working with seniors, the advice I am most told is “find what makes you happy and the rest will follow.”
Today, Sarah does not shy away from her handicap, but instead advocates people with fibrous dysplasia and other rare diseases. Pictured: with her sister, Mary
‘Nothing is worth your time or effort if you are unhappy. It is fine not to follow the status quo; I have already had to learn to go a different way than others to achieve the same goals. ”
Sarah hopes to remind others that even if someone like her has to follow a slightly different path than they might have planned, people with rare diseases want to contribute to society as much as you do.
“Help plead for those who need a voice, don’t ignore us; we are people too. Do not be afraid to approach us, but also respect those who have sensitive stories and who do not want to share.
‘It’s great to be curious and to ask questions. That is how we evolve and change and hopefully for the better. “