Posted: 5/9/03

Jenny's rare disease giving impetus for Baltimore symposium in 2004

by L.A. Jones
Union editor

Twenty-six-year-old Jenny Smith of Anoka has both captivated and made a nation wipe its collective eyes with her diagnosis and treatment of an extremely rare disease, alpha-mannosidosis.

And in the process, she's brought the type of hope, encouragement and empathetic strength that wouldn't have otherwise been possible to others similarly affected by the larger disorder, mannosidosis, and its related diseases.

Having fought the terrible condition for which only 60 to 70 others in the world had been identified as of her diagnosis by Dr. Chester Whitley, a geneticist at the University of Minnesota, Oct. 13, 1998, Jenny and her story are now taking another miraculous turn.

Her mother, Dianne Smith, and others throughout the humanitarian portions of the world so seldom seen or portrayed in the popular media, are organizing fund-raisers to bring physicians, scientists and other researchers from Norway, New Zealand, Australia, Canada and the United States together in Baltimore, Md., in April 2004 in an attempt to figure out the disease a little better.

For Dianne's part, she has organized a benefit garage sale for this Thursday through Saturday, May 8-10 from 8 a.m. to 5 p.m. each day at 432 River Lane in Anoka. Friends, relatives, neighbors, co-workers and others comprising more than 50 families have donated or will be contributing to the huge garage sale to benefit the Baltimore symposium being sponsored by the International Society for Mannosidosis and Related Diseases (ISMRD).

"They're trying to come to grips with the disease better so that they can come to a better understanding of it," said Dianne, who from a purely layperson's vantage point, may understand the much more specific disease, alpha-mannosidosis, better than anyone else in the world.

"Jenny was born with a herniated umbilical cord and she was jaundiced," said Dianne as part of "Jenny's JournalÖReclaiming a Life Through Bone Marrow Transplant (BMT)," published on the Worldwide Web by the ISMRD.

"I constantly felt that something was different in Jenny's alertness, coordination, physical fortitude, and in general, lack of enthusiasm," Dianne said. "Jenny had many colds and ear infections and was hospitalized with pneumonia at six months. These colds and ear infections continued until she was 3 1/2 years old. The pediatrician recommended tubes in her ears and removing her large adenoids that were the size of a 12-year-old's. There had been some hearing loss, but not enough to warrant hearing aids. So when she started school, she was in speech therapy, and when she had trouble staying on task and staying with the class academically, it was assumed that the hearing was responsible."

When Jenny was 12 years old, according to Dianne, the family had been vacationing at a resort and Jenny was on an innertube belly down behind a boat. The boat hit a big wave and she was flipped off the innertube. She was dazed when she got into the boat, according to Dianne, and wouldn't eat supper that night.

"The next morning we packed up and drove 150 miles home," Dianne said. "When we got home, she couldn't feel the lower half of her body and she couldn't walk. We took her to the emergency room and after many tests, they informed us she had an allergic reaction to the sun. She didn't walk and ran an extremely high fever for 10 days."

From ages 14 to 18, Jenny complained about pain in her right leg and a host of other symptoms. Doctors took an X-ray that showed she had a broken back and also determined that she had two dermoid cysts on her right ovary. She had them removed and in October 1995, Jenny had a posterior fusion of her spinal cord, which had to be redone after it was determined 10 months later that the screws to hold the fusion in place were already loose.

"Now, we felt that the injury to her spine was the cause of her sleeping so much, her poor coordination and decline in school grades," said Dianne. "We thought we had everything solved, and in time, she would be as good as new."

In May 1998, doctors reaffirmed that her recovery from her spine injuries looked good but also newly affirmed that perhaps Jenny's deteriorating speech could be traced to neurological reasons. Shortly thereafter, Jenny was positively diagnosed with alpha-mannosidosis by geneticist Whitley in October 1998.

Jenny at age 23 subsequently underwent a series of chemotherapy and radiation treatments to effectively kill her immune system, all to ready her for her bone marrow transplant.

It was a period of touch and go, according to Dianne, because the heavy doses of chemotherapy and radiation made her so susceptible to other diseases and common maladies.

"Even a cold can kill them; even a cut finger can kill them," said Dianne about Jenny and others who for the lack of any better choice, must undergo a bone marrow transplant and risk their lives in the do-or-die process.

Although Jenny is recovered from the various experimental operations, drugs and the bone marrow transplant, she and Dianne and the rest of Jenny's family must now live with a fact - a sad repercussion of her long overdue diagnosis and ambitious treatment.

"We have found out now because the treatment is so invasive, she is blind," Dianne said.

Besides making purchases at the garage sale Thursday through Friday, the public can make a contribution to help the Baltimore symposium happen in April 2004. Donations should be made payable to the International Society for Mannosidosis and Related Diseases (ISMRD) and mailed to Steve and Dianne Smith, 432 River Lane, Anoka, Minn. 55303.

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