Appreciating the gift of life
Born with rare genetic condition, and now in need of a kidney, upbeat Cumberland woman’s goal is to make each day count
CUMBERLAND — The emotional burden of living with a rare disease can be challenging, but Cumberland resident Sarah Masterson, who has an extremely rare genetic condition, says she threw down the gauntlet years ago because she was determined to lead as normal a life as possible.
For the most part, she’s done exactly that.
She graduated Cumberland High School in 2007 and works full-time as a retail store manager. She also likes to take long walks, swim and hang out with friends. And when she’s not doing those things, she spends hours on her favorite hobby: making baby scrapbooks for family members and friends.
“I’m a very positive, upbeat person and I don’t like to stay home,” she says. “I don’t let my health issues stop me from enjoying life.”
But it certainly hasn’t been easy for the 30-year-old
Sleepy Hollow Drive resident.
Masterson was diagnosed
10 years ago with Oral-Facial-Digital Syndrome, a rare genetic condition affecting around one person in every 250,000. Oral-Facial-Digital Syndrome is
“My kidney function right now is at 12 percent and they typically have you start dialysis when your kidney function is at 10 percent. I hope to get a transplant over dialysis, however, if I have to do dialysis I will.” —Cumberland’s Sarah Masterson
actually group of related conditions that affect the development of the mouth and teeth, facial features and fingers and toes.
Over the course of her life, Masterson has had dozens of surgeries, including cleft palate surgery when she was a newborn; surgeries on her teeth; and in 2015, a complicated surgery to help repair cartilage that protects the bones in her knee joints from rubbing against one another. But Masterson is now facing her biggest health challenge yet.
She’s recently learned she has Polysystic kidney disease, which is often a consequence of Oral-Facial-Digital Syndrome. Masterson’s kidney disease is characterized by the growth of fluid-filled sacs or cysts that interfere with her kidney’s ability to filter waste products from her blood.
So far, she feels tired, experiences nausea and has some pain, all of which will likely worsen as the disease progresses.
But what she’s really anxious about is the harsh reality that she will require dialysis by the end of the year.
“My kidney function right now is at 12 percent and they typically have you start dialysis when your kidney function is at 10 percent,” says Masterson.
Masterson is hoping to avoid dialysis by having a kidney transplant. “I hope to get a transplant over dialysis, however, if I have to do dialysis I will.”
Masterson has been on a kidney transplant wait list since July, which means it could take five to six years to get a kidney from a deceased donor. She’s hoping to find a living kidney donor.
“My blood type is O positive, but you don’t have to have the same blood type to donate,” she says. “If you don’t have the right blood type or you’re not fully compatible you will go into a donor swap bank that will allow me to receive a kidney through the swap.”
Anyone interested in donating a kidney or who wants to know more about the kidney transplant program can visit www.mghlivingdonors.org and take a survey to see if you are eligible.
“Any help I get would be great whether it’s people taking the survey, learning about kidney transplants or saying a prayer or two,” she says.
Masterson’s best friend, Katie Covino, who is unable to donate a kidney, has created a GoFundMe campaign at www.gofundme.com/f/sarahneeds-a-new-kidney to help. All money donated will be used for any medical expenses Masterson’s insurance doesn’t cover.
“My goal is to make people more aware of the urgent need for kidney donations, whether it helps me or someone else,” Masterson says.
Masterson says she’s accepted the fact that she will likely have to at the very least start dialysis as soon as January. “My kidney function will likely be at 10 percent by the end of the years, so at that point I will have no choice.”
But it’s just another hurdle Masterson says she will overcome with the help of her friends and family, which includes her father, Mike, and sister, Lauren.
“My mom (Jean) died when I was 11, so my dad raised me and my sister,” she says. “My family has given me the strength and courage to face any challenge.”
Follow Joseph Fitzgerald on Twitter @jofitz7