Bone marrow transplant provides hope for rare disease
by Staff Report
Apr 04, 2011 | 11050 views | 0 0 comments | 39 39 recommendations | email to a friend | print
Anthony Smith, who has been battling Adrenoleukodystrophy since 1996, received a bone marrow transplant Feb. 8. Although not an actual cure, the hope behind the transplant is to stop the progression of his disease, and allow his body to perhaps gain back through therapy some of what was lost.
SPECIAL
Anthony Smith, who has been battling Adrenoleukodystrophy since 1996, received a bone marrow transplant Feb. 8. Although not an actual cure, the hope behind the transplant is to stop the progression of his disease, and allow his body to perhaps gain back through therapy some of what was lost. SPECIAL
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Adrenoleukodystrophy, genetic, degenerative, debilitating, fatal and no cure. These are some of the words spoken to long-time Emerson resident Anthony Smith in 1996 when he was diagnosed with a rare genetic disease called Adrenoleukodystrophy, or ALD for short.

Although primarily a pediatric disease, he was 26 at the time of his diagnosis. There was not much information available, no real research to speak of, so Smith had to face down an early death sentence without knowing how quickly or how slowly it would progress.

ALD causes the breakdown of the myelin sheath -- white protective matter -- of the brain, leading to seizures, limb paralysis, visual and speech loss, loss of brain function, and eventually death. The disease is documented in the movie "Lorenzo's Oil," which was released in 1992 and starred Susan Sarandon and Nick Nolte. The film follows Augusto and Michaela Odone in their quest to find a treatment and cure for their son Lorenzo, who suffered from ALD.

In 2005, Smith and his wife, Kelly, learned about a Lorenzo's Oil clinical trial study available at Johns Hopkins Medical in Baltimore, Md. After speaking to the trial program coordinator and learning about the study, the Smiths came to the conclusion that this was not an ideal study to partake in.

"Spending four years in a 'double-blind' trial where Anthony was not guaranteed to receive the Lorenzo's Oil seemed like a potential waste of time," Kelly Smith remembers. "Trips twice a year to Baltimore and taking the risk of finding out it was placebo oil with no benefit? We decided to pass."

As time has progressed, so has Smith's ALD. The disease has taken both a physical and mental toll on his whole body.

"My legs got worse and it became excruciatingly difficult to walk," Smith said. "I had to give up basically everything I loved to do: work, play with my kids, play basketball, just be able to get out and enjoy life normally. I've had to resort to using a wheelchair, and I have almost no strength at all."

In June 2010, Smith started having intense seizures in his brain. He would temporarily lose his speech, and sometimes also his vision. These neurological episodes could last two minutes or two hours. The Smiths moved to Charlotte, N.C., that same month in order to seek out specialized care.

"We moved to Charlotte so it would be not too difficult to drive back to Bartow County for family, but also wanted to be close to Durham, N.C., where we sought out help from Duke University Medical," Kelly Smith said.

She spent a lot of time searching for resources and possible care opportunities for her husband.

"There have been many nights during our seven years together that I have stayed up all night doing research, hoping for just something that could be a benefit to his health," she said.

A surprising resource for them was Facebook. The more ALD families the couple met, the more they kept hearing the words "bone marrow transplant" associated with ALD. So Kelly Smith took this information and ran with it.

In September 2010, Smith was evaluated by Dr. Joanne Kurtzberg, director of the Pediatric Bone Marrow Transplant Program at Duke University Medical. After reviewing an MRI of his brain, as well as getting an advanced medical history, "Dr. K" indicated he was indeed a good candidate for a bone marrow -- stem cell -- transplant. Although he was already showing multiple advanced symptoms, the actual damage to his brain was minimal.

What are the transplant statistics? Well, for a 40-year-old ALD patient, there are no statistics. Since ALD is primarily a pediatric disease, the Smiths could not find any other documented cases in the United States for his age.

"Dr. K is a renowned field expert for ALD," Kelly Smith said. "We found out online that for ALD treatment, if you don't go to Duke, you go to the University of Minnesota for expert treatment. We consulted via email and phone with Dr. Paul Orchard at Minnesota, and he concurred Anthony would be a good candidate. However between Dr. Orchard and Dr. Kurtzberg, they had not performed bone marrow transplants on any ALD patient over the age of 26."

The search for a donor began, and good news was received near the end of October when seven perfect match donors had been identified, then were narrowed down to two perfect match donors who would receive requests for additional lab work to be completed. Once the actual donor was chosen, the Smiths moved temporarily to Durham during the last part of January 2011 to start treatment. For Smith's bone marrow transplant, he will face about 30 days inpatient at the hospital, then roughly three months of follow-up in the bone marrow outpatient clinic ranging anywhere from two to six days a week.

To prepare for the transplant, Smith completed four days of chemotherapy treatments, as well as one radiation treatment. The purpose of the chemotherapy and radiation is to deplete his immune system down to almost nothing, so the donor cells can come in and take over, re-growing his immune system with non-ALD-affected cells.

His "new birthday" was Feb. 8 -- transplant day.

"It's a case of shock and awe when people hear the word 'transplant,'" Kelly Smith said. "The actual transplant itself is very anti-climatic. It looks like a blood transfusion and was completed in his hospital room. However it's the magic that happens in the coming months that's the climax of this whole journey."

It will take about three weeks to know if the transplant engrafted and was a success. Although not an actual cure, the hope behind the transplant is to stop the progression of his disease, and allow his body to perhaps gain back through therapy some of what was lost.

"I just want to be able to walk well enough and have the strength and energy to work again," he said.

Even though he has already transplanted, Smith faces a minimum recovery period of one year.

"It's going to be a huge uphill climb," Kelly Smith said. "He will be very susceptible to germs and will have to limit his contact with people in groups and public places. He may have to receive blood or platelet transfusions and additional treatments to ensure the donor cells stay grafted. He may also have to fight off graft-versus-host-disease, where his body attacks the donor cells, and could be the most dangerous of possible aftereffects."

Smith and his wife feel that he is medical history in the making. While bone marrow transplants are very common at his age, they are typically performed on leukemia, lymphoma and cancer patients.

To follow the Smiths' journey, visit www.caringbridge.org/visit/antman. More information on the National Marrow Donor Program and "Be The Match," can be found at www.marrow.org/join.

To learn more about Adrenoleukodystrophy, visit www.stopald.com and www.fightald.org.