NEW YORK — Tubes and needles were as much a part of Brian Berman’s childhood as were trucks and books.
“I remember a lot of bloody noses. I remember an enlarged abdomen. I remember a lot of fatigue. In my mind I can remember it quite well,” Berman said.
Berman was four years old when he was diagnosed with Gaucher disease, a rare genetic disorder that affects about 1 in 60,000 Americans, primarily those of Ashkenazi Jewish descent. The enzyme deficiency, which can manifest itself at any age, can cause enlargement of the liver and spleen, excessive bleeding and bruising, and bone pain. It also increases the risk of certain cancers and Parkinson’s disease, arthritis, and osteoporosis.
“Social settings were really difficult. I grew up with a very strong feeling of being different; of not being able to take part in sports, of being smaller than everyone my age. I grew up hating suspenders that I had to wear to hold up my pants over my huge belly,” Berman said.
Some years after his diagnosis, Berman’s parents Dennis Berman and Dr. Robin Ely formed the National Gaucher Foundation to increase awareness about the disease and to advocate for new treatments. Now, as president and CEO of the foundation, Berman continues that work year-round. He frequently speaks about how far treatment has advanced, particularly in October, which is Gaucher Awareness Month.
Indeed, many with Gaucher now live full and active lives, thanks to the development of enzyme replacement therapy, said Berman, who was the first person to receive the treatment at the National Institutes of Health.
Genzyme, a biotech based in Cambridge, MA, developed the infusion therapy Cerezyme. Two years ago the company introduced Cerdelga, a pill that some Gaucher patients take twice a day; a smaller group can take it once a day. Health insurance covers the treatments, which cost hundreds of thousands of dollars annually.
Berman, who isn’t a candidate for the oral medication, undergoes a two-hour infusion once a week and has learned to administer it himself.
Although Berman’s wife isn’t a carrier, all five of Berman’s children are carriers. And of his five siblings, two have the disease.
Berman’s younger brother Ben started infusion treatments when he was two-and-a-half.
“I never experienced anything like Brian,” Ben Berman said. “Brian was a severe case. His stomach was the size of a basketball. He looked pregnant. By the time I was born enzyme therapy was available. It just never adversely affected me. I have a very active lifestyle; I played ice hockey, football.”
Dr. Pramod Kumar Mistry, Professor of Internal Medicine and Pediatrics at Yale University and Director of the National Gaucher Treatment Center, said before enzyme replacement therapy physicians were reduced to chasing symptoms.
It was not uncommon for patients to go into liver failure, to develop cancers such as myeloma and lymphoma, or to develop severe bone and lung disease. Patients became anemic because of enlarged spleens and many had their spleens removed.
All that changed with the introduction of enzyme replacement therapy 25 years ago.
“A lot of what I have described has largely disappeared in the US. When I arrived from England in 1998 and did some of my first patient meetings there would be quite a number of people in wheel chairs and on crutches. I just did a patient meeting on the West Coast and everyone looked so healthy you wondered what they were doing there,” physician Mistry said.
‘I just did a patient meeting and everyone looked so healthy you wondered what they were doing there’
First diagnosed at age 15, Dr. Wayne Rosenfield remembers all too well what it was like before enzyme replacement therapy.
Now in his sixties, Rosenfield spent his entire time in high school walking on crutches. He had a total hip replacement shortly before graduate school. He lost his spleen and in his mid-30s his left leg was amputated after a diagnosis of cancer.
“I had low frequency, high intensity events that were life threatening. My approach to dealing with chronic illness was I powered through it and I compartmentalized,” Rosenfield said.
Rosenfield is now a psychologist who uses his patient experience as a way to connect with and treat those with chronic disease or who have suffered trauma.
After Rosenfield’s diagnosis many in his family underwent genetic testing. A few aunts and uncles were shown to be carriers; he was the only to have full-blown Gaucher disease.
Like Rosenfield, Michelle Zuckerman is also of Ashkenazi descent. So when she and her husband Evan decided to start a family they went through genetic testing. The results came back positive: both are carriers of Gaucher disease.
“Based on the information he had we decided that if we have to deal with it, we will be able to deal with it,” Zuckerman said.
And they’ve had to deal with it: Their oldest child, Lindsey, 13, has the disease, while their youngest 11-year-old Hailey is a carrier.
Lindsey first showed symptoms when she was about six months old. She had late gross motor development and didn’t walk until she was two-years-old. When she was six she started having bouts of severe joint pain. Her organs were slightly enlarged. At age 11 she received her first enzyme replacement therapy.
‘She knows this is part of who she is and she decided she was going to turn it round and do good with it’
“From the time she was younger she knew she had something called Gaucher disease, but all of it came to a head when she was in sixth grade. She went through a crazy amount of emotions; it was very hard for her. She’d ask ‘Why me,’” Michelle Zuckerman said. “But once she started treatments and she started to feel better she seemed to go through a transition. She knows this is part of who she is and she decided she was going to turn it round and do good with it.”
For her bat mitzvah project Lindsey held a Dance-a-Thon to benefit the National Gaucher Foundation. She raised $16,000.
“A typical misconception is that if you have a genetic disorder you’ve entered the realm of despair. You can live a relatively normal life but you have to be proactive in your treatment,” Berman said. “This is not a death sentence. I’m not going to say it’s like being lactose intolerant and you just have to take Lactaid and that’s that. But everybody can be helped. Treatment is not out of reach for anybody.”
As his brother Ben said, “Managed correctly, life just goes on.”