Robert and Maria Bucci of Ridgewood, New Jersey have been on an arduous journey that began three years ago.
The Bucci’s want their story told, “so that we can lend our voices to so many who don’t have one. We would be honored to help raise awareness.”
This is as much about a rare disorder as it is about a husband’s steadfast and persistent efforts to obtain a diagnosis and a cure for his wife.
In January, 2007, Maria, a 44-year-old former international model and mother of four, developed numbness in her toes. At first these symptoms were not alarming, but within a week it had spread to her right arm. Her family physician referred her to a local neurologist.
Robert and Maria Bucci, prior to the onset of Maria’s paraneoplastic stiff person syndrome.
Maria was diagnosed with a “pinched nerve.” But the symptoms progressed, leaving her barely able to walk.
Robert found a highly reputable neurologist at a large metropolitan teaching hospital, and Maria was admitted as an in-patient for testing. Originally planned as two days of testing, it became a 16-day admission. She was discharged using two canes for walking, experiencing increasing pain in her right arm—and no diagnosis.
“I prayed for guidance,” says Robert, who then launched an online search for information about a disorder that had been erroneously considered as Maria’s diagnosis. This led him to learn of Dr. Norman Latov, Director of the Peripheral Neuropathy Research Center at Cornell Medical Center. In desperation, Robert went to Dr. Latov’s office and,
“I got down on my knees and begged for an appointment.”
It was now mid-May 2007, four months after the onset of symptoms. The earliest available appointment with Dr. Latov would be in two weeks. Robert and Maria felt it was worth the wait.
Dr. Latov examined Maria, reviewed her records, and concluded that she had the signs and symptoms of a rare disorder called “stiff person syndrome.” This causes debilitating muscle stiffness and episodic, painful spasms. But to make matters worse, Dr. Latov suspected that it was being fueled by an undiagnosed malignancy—that it was a “paraneoplastic” form of stiff person syndrome.
Paraneoplastic neurologic syndromes (PNS) are a group of rare conditions that affect the nervous system in patients with cancer. The syndromes aren’t caused by the tumors themselves, but by the immunological reactions–antibodies–that the body produces in response to them. Often, the malignancy goes undiagnosed because the antibodies hold the tumor growth at bay.
Blood tests ultimately confirmed the presence of a paraneoplastic antibody, anti-amphyphysin, often associated with breast cancer. A chest MRI revealed a left chest mass, and a mammogram with ultrasound revealed a suspicious growth in Maria’s left breast.
Maria had undergone a routine mammogram three years earlier at age 41, which was normal. There was no history of breast cancer in her family.
Robert tracked down a renowned breast cancer surgeon, Dr. Michael Osborne, Chief of the Breast Service at Cornell Medical Center. “You’re a persistent fellow,” Dr. Osborne remarked, realizing the extraordinary effort Robert had made to locate him.
Unable to perform an immediate consultation, Dr. Osborne arranged for a trusted colleague to see Maria. In July 2007, after a biopsy confirmed the diagnosis of breast cancer, Maria underwent a left mastectomy.
Despite successful surgery, no evidence of metastasis, and postoperative chemotherapy, the symptoms of PNS did not abate. Maria also received medications for stiff person syndrome, which include muscle relaxants and IVIG (intravenous immunoglobulin).
In August, 2007 the Cornell physicians planned for Maria’s discharge to a nursing home. Disagreeing with this plan, Robert sought the expertise of Dr. Jerome Posner of Memorial Sloan-Kettering Cancer Center, an expert in paraneoplastic neurologic syndrome. After consulting with Dr. Posner, and as a result, Maria was transferred to Columbia Presbyterian Medical Center for further pain management. She then went to a skilled nursing facility, and finally returned home on December 8, 2007, almost six months after her mastectomy.
Dr. Posner still plays a major role in Maria’s care, monitoring her condition, antibody levels, and ordering IVIG and other medical treatments that she receives at home.
The PNS caused Maria to lose her hearing in both ears and to develop type 2 diabetes. While the cause of the deafness is not fully understood (and is an extremely rare event), diabetes is known to develop in people with stiff person syndrome. “I communicate very well with Maria through her lip-reading ability.”
In October, 2009, a biopsy of Maria’s other breast revealed a pre-cancerous growth, and a second mastectomy was performed. While there is currently no concrete evidence of a remaining malignancy, the struggle with the unrelenting effects of PNS continues.
Currently, Maria is homebound, unable to walk, and requires daily personal care and on-going physical therapy. Medicare pays some, but not all, of her medical bills. Robert is her primary caregiver.
An article about the couple in their local newspaper, written to help raise funds for Maria’s care, states that, “During times of despair, Maria has turned to Robert and asked, ‘Aren’t you tired of looking at me like this?’ Robert always tells her that he’s tired of seeing her suffer, “But I’m not tired of seeing you.”
Dr. Posner has recently started Maria on rituximab, a medication that is a form of immunotherapy not yet FDA-approved for either stiff person syndrome or paraneoplastic neurologic syndrome. There have been some promising studies, and Maria’s and Robert’s fervent hope is that this will be a helpful treatment.
If you were to ask Robert what makes a physician great, he will tell you, “Great doctors have one important trait in common—humility.” He says that, “Dr. Latov,
Dr. Osborne, and Dr. Posner are humble, wonderful doctors.”
Reflecting on the ordeal of the past three years, Robert says, “I’ve long understood, before my wife became ill, that we are only going to go through this lifetime once.” He vows that he will “…do whatever it takes… chasing miracles…” to help Maria. “I will not rest until my wife is well.”
