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Life-long Illnesses Lead to the Discovery of a New Syndrome

Judy O’Donnell Amoroso, 45, of Woburn, MA, has battled a variety of different health-related issues ever since she was a young child. Although the problems appeared to occur independently of each other, Judy’s doctors at Tufts Medical Center suspected a connection; their initiative led to the discovery of a newly identified syndrome.

When she was in grade school, Judy was diagnosed with polycythemia, a condition that caused her body to produce too many red blood cells. She went to Tufts Medical Center for a blood test every other week for years, until her blood levels stabilized when she reached adolescence. However, in 2004, when her children were in their teens, Judy developed jaundice – tests raised concern for malignant abdominal tumors, which required surgical removal.  

Top-Notch Care Through Collaboration

But what normally would have been a routine surgery became much more complicated when one of the tumors released high levels of noradrenaline – a heart rate increasing hormone – during the procedure, pushing Judy’s blood pressure to dangerous levels. Her surgeon quickly called in Chief of Endocrinology Ronald Lechan, MD, PhD, a nationally-renowned endocrinologist, who determined that this particular type of tumor was actually a paraganglioma, a rare neuroendocrine mass that arises from the autonomic nervous system, and had to be operated on with extreme care; the other tumors were somatostinomas, rare, malignant tumors of the gastrointestinal tract, which required a Whippple procedure and lymph node dissection to remove. Later, when Judy needed follow-up surgery to remove other paragangliomas that had developed, Dr. Lechan worked with Surgeon-in-Chief William C. Mackey, MD, to prepare her for the procedure and dictate her postoperative care.

“The doctors at Tufts Medical Center work very closely together, and that collaboration is an advantage when situations like this happen,” said Dr. Lechan.  “The surgeons know they can call on our clinical specialists if there are ever any questions or concerns during the operation.”

Judy said she has been very grateful for the way her doctors at Tufts MC communicate and work together as a team. In addition to Dr. Lechan and Dr. Mackey, Judy has also benefitted from the expert opinions of Senior Pathologist Arthur Tischler, MD, Clinical Director of the Tufts Medical Center Cancer Center Jack Erban, MD and former surgeon Michael Steer, MD, who is currently conducting pancreas research at Tufts University’s Sackler School of Graduate Biomedical Sciences.  She knows that her doctors are sharing information and making coordinated plans for her care.

A Connection Explored, A Syndrome Revealed

After the surgeries, Dr. Lechan told Judy that he thought it was highly likely that the two types of tumors and the blood disease were somehow related. Judy agreed to join a collaborative study between the National Institutes of Health (NIH) and Tufts Medical Center to try to pinpoint the connection. “I just wanted to help the doctors help other patients,” she said.

Dr. Lechan sent her tissue samples to the NIH. It took several years, but his suspicions were confirmed when results showed that Judy’s health issues were indeed related; they were symptoms of a syndrome resulting from a mutation on a specific gene. At least three other patients around the world shared the same mutation and the same ailments as Judy.

Moving Forward with Peace of Mind

The announcement of this newly-discovered syndrome was detailed in a scientific article that appeared in the Journal of Clinical Oncology.  Now, when patients have a similar combination of symptoms, doctors can test for this specific syndrome, develop better treatment plans and determine new therapies. Judy is just thankful to have the peace of mind of knowing that all of her medical problems are not just random coincidences.

“I’m relieved to know that it is something real,” she said. “I’m thankful to know that they’re getting answers. It’s helping people, and that’s what I really wanted.”

Judy considers the discovery a testament to the dedication of the Tufts Medical Center doctors who have been caring for her since she was a young girl. With her future now more certain and secure, Judy returned to night school and is now more than halfway towards getting her degree.  She went back, she said, largely because of the trust she has in her doctors to take care of her. 

As for her health? “She is doing great,” said Dr. Lechan. “She has not had any recent symptoms. Her  noradrenaline levels have been stable and her somatostatin [growth hormone-inhibiting hormone] levels are normal.”

“There isn’t a big cloud hanging over my head anymore,” said Judy. “I believe I’m going to be here a long time.”

A patient at the Cancer Center at Tufts Medical Center.

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