Cecilia Van Gorp

On an October morning in 2006, 57-year-old Cecilia Van Gorp of Oskaloosa, Iowa, woke to find that she had lost movement in her right hand.

"I immediately called the doctor, fearing I had had a stroke," says Cecilia.

After a visit with her doctor, however, a stroke was ruled out. She then went to a specialist for a test measuring nerve activity in the muscles (EMG) later that same afternoon —it would be the first of many tests and visits to specialists in her area that failed to bring her closer to figuring out what she might be suffering from.

Concerns About ALS
As the weeks passed, Cecilia had periods where her right hand would suddenly clench up, then eventually release. The muscles in her arm were beginning to atrophy and she was losing strength in other limbs as well. She then was certain something was seriously wrong.

A specialist in Des Moines, Iowa, began connecting the dots between all of Cecilia's symptoms and suggested that she might have ALS, or as it is more commonly known, Lou Gehrig's disease.

"I knew ALS is usually fatal, and of course I was worried," says Cecilia.

ALS is a neurodegenerative disease that usually attacks both upper and lower motor neurons and causes degeneration throughout the brain and spinal cord. Common early symptoms may include a painless weakness in a hand, foot, arm or leg.

Deciding on the Next Step
The specialist told Celia that he could make an appointment for her to see an ALS specialist two different locations, one being Mayo Clinic. In Celia's mind there was only one choice.

"I had a brother-in-law who had lung cancer back in the '80s," she says. "He went to Mayo and they treated him so well. My sister could not say enough good things. I just felt that it was the right place to go."

Extensive Testing Leads to Different Diagnosis
Nearly a year after her initial episode, Cecilia began three days of tests at Mayo Clinic with neurologist Brian Crum, M.D., including blood tests, an MRI, extensive EMG sessions and an overnight sleep study. By this time, she was suffering multiple spasmodic episodes during the day and was having difficulty sleeping.

"When Cecilia came in to see us, she was very worried that she had ALS, which is usually fatal within three years," recalls Dr. Crum. "Through our testing —primarily the EMG —we discovered that she was having issues with conductivity in her nerves, which is different than what happens with ALS."

When all tests were completed, Dr. Crum told Cecilia that she had a condition called multifocal motor neuropathy (MMN) —a treatable peripheral nerve disorder whose symptoms mimic those of ALS.

MMN is characterized by muscle weakness in the hands, with differences from one side of the body to the other in terms of the specific muscles involved. Symptoms also include muscle wasting, cramping and involuntary contractions or twitching of the leg muscles. Treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide. Improvement in a patient's muscle strength usually begins within three to six weeks.

Regaining Strength, Discovering New Joys
Cecilia's treatments began with one treatment a day for four days, then tapered off to one a week for four weeks, then one every two weeks. Cecilia now receives monthly IVIG treatments at a clinic near her home in Oskaloosa, along with several checkups annually with Dr. Crum.

While she may continue to need treatments for some time, her condition is improving and Cecilia is working to regain strength through physical and occupational therapy.

"Before I started physical therapy, I could go downstairs, but not up," she says. "I'd go halfway, then get tired. Now I use a cane, but I am able to get up the stairs myself."

In addition to the positive physical improvements for Cecilia, she also shares a most welcomed surprise that happened soon after her diagnosis and treatment.

"I gave a son up for adoption when I was very young," says Cecilia. "He contacted me in September of 2007. I was thrilled —and I also discovered I am a grandmother. He is wonderful and I couldn't have asked for him to turn out any better than he did."

When asked to give advice for those who are concerned they may have MMN or ALS, Cecilia offers these thoughts.

"If anyone thinks they may have something like this, and they're not getting the care they need, I would strongly suggest they ask for a referral to Mayo," says Cecilia. "I have been to other medical centers for other types of treatments and I received good care, but I never felt that they were as thorough. Mayo is a wonderful place to get your questions answered."