BELFAST, Maine — Imagine living with a rare neurological disorder that only occurs in about one in a million people. For a Belfast woman, it's been a challenging journey after being diagnosed with stiff-person syndrome six years ago. The progressive disease made headlines last month when legendary singer Celine Dion revealed her diagnosis.
Brenda Smith vividly recalls when her younger brother Alan started having painful muscle spasms which no doctor could explain.
"Your muscles are always contracting. It's just constant," Smith explained.
Seven years later, Alan was diagnosed with stiff-person syndrome. The progressive auto-immune condition has no cure. The condition, which affects about one in a million people in the US, is not known to be inherited. But then Brenda started experiencing muscle spasms in both legs, which later turned out to be SPS.
"How in the world could we have gotten the same auto-immune condition, that is so rare?" Smith exclaimed.
Smith lives in the Penobscot Shores Retirement Community, overlooking Belfast Bay. She uses a motorized chair to get around. Among the biggest risks from SPS is falling. In addition to frequent spasms, patients often have rigidity and posture problems.
"There are some individuals, that the diagnosis remains elusive," Dr. William David, a neurologist and chief of the Division of Neuromuscular Medicine at Massachusetts General Hospital, said.
Smith is one of David's patients. David said it can take several years to get a correct diagnosis because SPS can mimic other conditions. He said around 80 percent of patients have antibodies in their blood, which impact the nervous system and can be detected in a blood test. Smith manages some symptoms with medication.
Right now, there is little to no research underway to find answers. Smith and other patients hope that picture will change now that Dion has announced her diagnosis.
"I thought, 'Oh my God, finally somebody with a voice that can really champion this,'" Smith said.
"Fundraising and other things to try to help out research efforts," David said of efforts to combat the disease. "While it's is a regrettable thing, it can have a beneficial offshoot to increase awareness."
Over the past several years Smith has received intravenous immunoglobulin therapy, known as IVIG, at Waldo County General Hospital twice a month. She said the treatment has improved some of her symptoms. She also does weekly physical therapy with physical therapist Kaly Rumery, who works on Smith's stiff muscles.
Smith, who once traveled the world as a river guide, is grateful to get some relief from the debilitating symptoms. It allows her to focus on a new inspiration: writing memoirs about her travels overseas.
"I find it truly a blessing to be able to write," Smith added.