Living with a rare disease can be a lonely experience. There aren’t the same resources available, or enough awareness about the difficulties they face. These brave people might make up a small percentage of the population, but they deserve huge recognition.
Which is why ostomates in our community inspire us; they overcome almost impossible daily challenges to prove how much can be accomplished despite limitations. Here are seven incredible survivors living with illnesses you probably never heard of.
Chelsea Wilson was born with Familial Adenomatous Polyposis.
Familial Adenomatous Polyposis (FAP) is a rare hereditary condition that only affects 1 out of 10,000 people in the United States. FAP is characterized by hundreds to thousands of precancerous colorectal polyps that mostly affects the digestive system. Without surgery to remove the colon, people with Familial Adenomatous Polyposis will likely develop colon cancer. FAP should be managed by a doctor who knows this condition well.
One of Chelsea's biggest challenges is finding a doctor in Ohio who specializes in FAP. So instead of office visits, she meets with her physicians via phone and Skype. Every year, Chelsea has a colonoscopy to check if FAP has spread to other areas of her gastrointestinal tract. She also faces dietary challenges that vary from day-to-day. Living with this rare disease is not easy, but Chelsea is known for her “can do” attitude and uses her own experiences to advocate for more awareness.
Nathaniel Pugliese was diagnosed with Peutz Jeghers Syndrome at age 15.
Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals have an increased risk for intestinal and other cancers.
Nathaniel was in middle school when he was diagnosed with PJS. At 21-years-old he underwent a sigmoidectomy procedure which created a temporary stoma. 10 months later he had a successful reversal surgery, however in mid-July his health took a turn for the worse and changed his life forever. Doctors discovered holes in his intestinal lining, revealing a ruptured bowel and sepsis. Nathaniel had emergency colostomy surgery to save his life, which was later made permanent. His positive outlook, sense of humor, and genuine compassion for helping others makes him an everyday superhero.
Sarah Vasilakos was born with Chronic Intestinal Pseudo-obstruction.
Chronic intestinal pseudo-obstruction (CIP) refers to a group of rare motility disorders, potentially disabling, where coordinated contractions (peristalsis) in the intestinal tract become altered and inefficient. Nerve or muscle problems cause the small and/or large intestine to lose the ability to contract and push food, fluid, stool, and air through the gastrointestinal tract. The cause of CIP is unknown, and there is no standard treatment because each case is very individualized. The main focus of CIP treatment is maintaining an adequate nutrition status.
Sarah had ileostomy surgery when she was only three weeks old, which was later made permanent at age nine. She has used IV fluids, total parenteral nutrition (TPN), and a gastric tube to help with nutritional deficiencies. Since the symptoms of CIP are so unpredictable, Sarah is constantly adapting to body changes that affect her daily life. Despite the challenges from this rare disease, she always has a smile, a positive attitude, and is dedicated to her job as a Registered Nurse at Inova Fairfax Hospital.
Melanie Nussbaum was born with Cloaca.
A Cloaca malformation occurs when the urethra, vagina, and rectum are connected into a single channel, rather than three. The underlying cause is not known and occurs only in girls. Cloaca anatomy can vary widely, and the complexity of the surgical reconstruction also varies. These surgeries are done in stages, as they are so complicated that the best results are achieved when the baby is bigger.
Melanie was born with no intestinal or spintcher muscles because of Cloaca and lives with two ostomies. A Mitrofanoff, which was given to her 4-years-old and a colostomy, which she's had for the past 18 years. Being honest and open about her condition (even when it's not all good) helps educate others about this rare birth defect. She's been able to attend college, work with preschoolers, zipline, rock climb, travel, and so much more. She also volunteers as a certified ostomy visitor. Compassionate people like Melanie are the world's greatest treasures.
Chloe Moody was born with necrotizing enterocolitis.
Necrotizing enterocolitis, abbreviated NEC, is a devastating disease that affects a newborn’s intestines. It typically occurs in premature infants, born less than 37 weeks, and is characterized by severe inflammation of a baby’s small or large intestines, which may progress to tissue death. Surgical treatment is needed when there is evidence of bowel perforation. The exact cause of this disease is not fully understood, but may be related to a premature intestine, abnormal gut microbial colonization, and intestinal inflammation.
Sometimes even full-term babies, like Chloe, develop necrotizing enterocolitis. As a result, she had colostomy surgery at birth and lives with short bowel syndrome. Her biggest challenge living with NEC is maintaining adequate nutrition and living with chronic fatigue. But Chloe doesn't let that stop her from attending college, volunteering as a camp counselor at Youth Rally, and advocating for NEC awareness. She's a true inspiration to the ostomy community!
Katie Seip was diagnosed with Gastroparesis at age 13.
Gastroparesis (abbreviated as GP) represents a clinical syndrome characterized by sluggish emptying of solid food from the stomach. This causes persistent digestive symptoms (nausea, vomiting, abdominal pain, reflux, bloating) and primarily affects young to middle-aged women, but is also known to affect younger children and males. The symptoms generated by the stomach dysmotility greatly impair quality of life for the majority of patients and disable about 1 in 10 patients with this rare condition. Many patients with symptoms of GP often have nutritional deficiencies.
Since no cure for GP exists, Katie’s doctors focus on treatment to reduce the persistent nausea that often happens within a few hours after eating. She’s faced some challenges with maintaining her diet and has a jejunostomy along with a feeding tube for nutrition and hydration supplementation. Being a teenager, Katie didn't let GP stop her from attending school or joining activities with her friends. She also participates in sports, and volunteers her time to raise awareness for GP on social media. She is one of the most amazing people I've ever met.
Danielle McCormack was born with Imperforate Anus.
Imperforate anus is a birth defect that appears to occur randomly for unknown reasons, and characterized by the absence of the normal opening of the anus. Elimination of feces may not be possible until surgery is performed. In some cases, the rectum opens into the lower part of the vagina in females, or close to the scrotum in males. With surgical correction, normal elimination can become possible. Imperforate anus may occur as part of a malformation syndrome, such as VACTERL association.
Danielle has lived with a rare illness her entire life and has been through more than 20 surgeries, including a colostomy when she was only one day old and reversed at the age of two. In 2014, she was given a temporary ileostomy which was later made permanent, but that didn't stop her from modeling for a lingerie company in the UK. She constantly strives to raise awareness and end the stigma associated with ostomies by sharing her story and inspiring others to "be confident and embrace what has saved your life." Danielle is truly a shining star.
When we think about bravery, we tend to picture heroes who face fear head on. Heroic is exactly how I would describe each person living with a rare illness. If you think about it, real courage is when you do whatever it takes to save your own life every single day.
To learn more about rare diseases, visit rarediseases.org.