New Hope For Those Battling Rare Genetic Disease In New Rochelle

NEW ROCHELLE, NY — In an effort to widen patient access to the treatment of a rare genetic disorder, Yale School of Medicine’s National Gaucher Disease Treatment Center has expanded to include its newest location right here in New Rochelle.

Northeast Medical Group’s first New York Gaucher disease treatment center and third in the region is expected to make it easier for patients to access care. The centers draw patients who travel from all parts of the country and around the globe to see specialist Dr. Pramod Mistry, the center’s director, who has studied the rare disease for more than three decades. The other Gaucher disease treatment centers are located in New Haven and Stamford.

“A major danger of Gaucher disease is lack of awareness,” Dr. Mistry said. “People wait an average of five years before receiving an accurate diagnosis. Additionally, not many providers have experience treating the disease.”

Gaucher disease affects just 1 in 40,000 people, but its frequency is as high as 1 in 450 births among people of Ashkenazic (Eastern European) Jewish descent, according to the experts at Yale School of Medicine. There are approximately 6,000 people with Gaucher disease in the U.S.

Those with Gaucher disease have macrophages – the cells responsible for eliminating damaged cells – that lack the enzyme to break down a molecule called glucocerebroside. As a result, the molecule overwhelms the macrophage, turning it into what is called a Gaucher cell, which then accumulates in bone marrow, the liver and the spleen. Once there, they cause inflammation and scar tissue responsible for many symptoms of Gaucher disease, such as bone pain, organ enlargement, osteoporosis, bone infarction, anemia, fatigue, excessive bleeding and bruising.

Some patients also are at risk of cancers and Parkinson disease.

Gaucher disease is not yet curable, but most types are treatable with regular infusions of a synthetic enzyme. While the disease is present at birth, symptoms can appear at any age. Early diagnosis and treatment are vital for the best outcomes. Diagnosis involves a genetic test and a blood test that measures enzyme activity.

Dr. Mistry is studying a new treatment for Gaucher disease that could minimize the need for infusions.

The new Gaucher center located at 145 Huguenot St. will be integrated with the Northeast Medical Group Obstetrics and Gynecology office, allowing for genetic testing which can mitigate potential risks for the baby if both parents carry the mutation. Physicians at the center also can provide ongoing care to women who have Gaucher — the disease can progress during pregnancy. The facility will also focus on women who learn for the first time that they have Gaucher disease during pregnancy.

In addition to providing medical care, Dr. Mistry said he has a goal of lessening the stigma associated with genetic disorders such as Gaucher disease.

“I learned quite late in my career about the trauma the whole family experiences shuttling to different doctors and thinking they passed on the wrong genes,” Dr. Mistry said. “Every human on this planet is a carrier of several dozen genetic diseases. I would like to remove the label of genetic disease when I discuss this condition – the psychological burden shouldn’t be any more than high cholesterol. This is a very complex condition, and our core mission is to deliver science-driven holistic care.”