Lauren Pisani of Westfield vividly remembers having nose bleeds at a very young age. She recalls getting them every other week – and they would sometimes disrupt classes, tests, or other important activities like ballet class. As a young girl, she was annoyed -- why did she get nose bleeds and her friends did not?
NOSE BLEEDS NOT INCLUDED IN HER DREAMS
The nose bleeds continued…as did her frustration. “Having nose bleeds as a teenager was very annoying, I tried many over-the-counter ‘fixes,’ including frequently moisturizing my nostrils, and nothing solved the problem,” said Pisani. She knew she needed to find a solution before leaving high school and heading to nursing school. “I always wanted to be a nurse and needed to focus on making that dream a reality.” In her dreams, frequent, bothersome and embarrassing nose bleeds weren’t included.
Seeking an end to the nose bleeds, Lauren visited an Ear, Nose and Throat (ENT) doctor who suggested that she have her nose cauterized. Nasal cautery, or nasal cauterization, is a procedure used to treat nose bleeds. Nasal cautery is where a chemical or electrical device is applied to the mucous membranes in the nose to stop bleeding. For Lauren, the nose cauterization helped decrease the bleeding. However, they restarted after about six months. After a repeat visit to the ENT doctor she was told there was nothing left to cauterize so she gave up on any further intervention.
A NEW SYMPTOM BEGINS
Lauren went about her life as a typical girl in her late teens would, going to school, attending ballet classes, and hanging out with friends. She finished high school in 2016 and entered nursing school. Unfortunately, the nose bleeds continued, and a new symptom also started. “I began having rectal bleeding on and off during this time and put up with it for a few years,” shared Pisani.
When Lauren switched to an adult primary care provider, that provider suggested she see a gastroenterologist. “I began going to Dr. Cal’s office in late 2020 and that’s when I had my first colonoscopy,” said Pisani.
GASTROENTEROLOGIST VISIT OFFERS ANSWERS
Lauren is a great patient to work with, very devoted, and very thankful for the swift action we were able to take in our office and provide her with some understanding of what was going on. Lauren’s diagnosis is called Juvenile Polyposis Syndrome,” said Dr. Nicolas Cal, gastroenterologist at Baystate Gastroenterology at Baystate Noble Hospital in Westfield. “She has a condition driven by a genetic mutation; the specific gene called SMAD 4. Having this mutation predisposes her to having bleeding polyps in the colon that can turn into cancer.”
After learning of her Juvenile Polyposis Syndrome diagnosis, Lauren was further diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). HHT is a disorder in which some blood vessels do not develop properly. After hearing the diagnosis, and learning many more tests were needed, Lauren was overwhelmed. She said, “Mostly due to all the diagnostic tests I had to get done all at once. I had to get a bubble study echocardiogram, brain MRI, an endoscopy with another colonoscopy, a CT-Scan of my lungs and liver, and a PET scan of my lungs.” Even though the closest HHT clinic is in Boston and Lauren met with a doctor there, Dr. Cal had all the same information and had already explained to her the diagnosis and subsequent treatment.
I had already heard from Dr. Cal the information that it took months to get from the Boston doctor. This is a huge reason why I chose to stay with Dr. Cal and his office. I felt confident that he knows how to properly treat me, he is knowledgeable and explains things in a way I can understand. I will have to get colonoscopies and endoscopies more often than the normal recommendation and will need them the rest of my life.
IDENTIFYING GENETIC MUTATION MINIMIZES RISK
Dr. Cal went on to say, “Because it is a syndrome, it can affect many different organs. By being able to identify these rare and infrequent genetic mutations we can minimize her risk of developing cancers in the future. This not only applies to gastrointestinal cancers, but also to reproductive organs.”
This is one instance when Lauren wasn’t excited to be unique. “Dr. Cal told me after my first colonoscopy that I was one the of the youngest people he had seen with that many polyps. He also told me that had I waited another year I would have most likely had cancer. That was eye-opening, and all I could think was how lucky I was that this was caught early. Being diagnosed with Juvenile Polyposis Syndrome was the catalyst for receiving my other HHT diagnosis, and this wouldn’t have been discovered without Dr. Cal,” said Pisani.
LUCKY TO RECEIVE THE CARE I DO
“By identifying this condition, we can assure her safety as long as she continues to undergo surveillance studies for the rest of her life. Establishing the diagnosis, not only for her, but also for her future kids, as they may carry the same mutation,” shared Dr. Cal.
Even though it’s unusual to have to undergo colonoscopies and endoscopies at 24 years old, I feel lucky to be able to receive the care I do from Dr. Cal and his office,” said Pisani.
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