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Photogs courtesy Mark Spencer
Mark and Jenni Spencer in 2005, before early onset Alzheimer’s rendered Jenni Spencer mute and bedridden.
Jenni Spencer, left, and her husband Mark during a hospital stay. Jenni developed early-onset Alzheimer’s when she was just 30 years old, but had made significant progress in regaining speech and motor skills thanks to a trial drug being researched at the Blanchette Rockefeller Neurosciences Institute in Morgantown.
Mark Spencer met his wife, Jenni, in college, and the two hit it off right away.
The pair started building a house in Nicholas County, while they were still teenagers, and hoped to have children one day, though they decided to wait. Early in their relationship, Jenni had told Mark about her family’s unique medical history, and the Spencers wanted to be cautious.
“It didn’t stop us from going forward,” Mark Spencer said. “We were waiting to have children, because we knew we didn’t want to pass the gene on, and so we said we’d wait until she turned 30, and if everything was all right, we’d start having kids.”
Jenni’s 30th birthday came, and with it, the onset of symptoms the couple had long feared. Jenni, like her mother and other family members before her, had developed early-onset Alzheimer’s disease.
“The changes were small enough that we could adapt to them as we went along,” he said. “We’d always researched all along the drugs that were coming down the pipeline ... I started looking at the drugs on clinicaltrials.org, but most of the drug trials there were for patients 50 or older; there was hardly anything that suited her.”
It wasn’t until the wife of a distant cousin, who’d also been researching treatments for many years, contacted him about a promising drug being researched at the Blanchette Rockefeller Neurosciences Institute in Morgantown.
“She said, ‘Would you be interested in coming to talk to some people about this drug being developed at BRNI?’ And I said ‘Bryostatin?’ She was like, ‘yes,’ and I said, ‘I’ll be there with bells on,” Spencer said.
Bryostatin, a drug isolated from tiny filter-feeding animals common in tropical waters called bryozoan, was originally developed decades ago to treat certain cancers with limited success. Dr. Daniel Alkon, the scientific director at the BRNI and former staff member at the National Institutes of Health, said Bryostatin’s potential in treating Alzheimer’s has been a more recent discovery, and one that researchers at the institute have been eager to explore.
“Ten years ago, I wouldn’t have even thought it possible, because no one would have thought we’d be able to regenerate the synaptic dimensions of an adult brain,” Alkon said. “We are regenerating parts of the brain; that is what our approach does. I would have told you 10 years ago that was literally impossible, and I would say that we have demonstrated today that it is, in fact, possible.”
Bryostatin works by activating protein kinase C epsilon, an enzyme that when activated, prevents the toxic protein beta amyloid from destroying synapses in the brain, while simultaneously encouraging synaptic regeneration, Alkon said.
“I didn’t know that we would be right at all, but everything that has happened with this research so far has led me to be very optimistic that sooner or later ... we are going to succeed,” Alkon said. “I cannot tell you that I ever would have imagined to see the benefits we saw in Jenni Spencer. It was beyond anything we anticipated.”
According to Alkon, Jenni Spencer’s disease was the result of a “fatal flaw” gene that, if inherited, guaranteed the onset of Alzheimer’s at an early age. Jenni and the members of her family who had the disease are part of the 4 to 5 percent of Alzheimer’s patients who possess a “fatal flaw” gene; the vast majority of those who suffer from the disease have another more common gene mutation, ApoE4, that ups their chances of developing the disease without ensuring it, or have suffered risk factors like severe head injury.
According to her husband, Jenni’s form of Alzheimer’s differed from what is commonly seen in older adults — she retained her long-term memory, but her motor skills and speech declined more rapidly than with traditional Alzheimer’s patients. By the time Jenni was enrolled in BRNI’s compassionate-use trial, she had been bedfast and mute for nearly a year. Spencer remembers the moment when, hours after her first dose of Bryostatin, she reached to him for a high five — her arm fully extended to meet his for the first time in months.
“The first night, I had a medicine alarm go off — I gave her medicine about seven times a day — and when it went off, she was upset and started vocalizing, trying to talk,” he said. “I was blown away by that, because she hadn’t done that for months. She was fussing, and so I said ‘Tell me what’s wrong, honey. I’ll do anything I can to help you.’ And she said, ‘hot.’ Speech had returned after 12 months of nothing, the day after the first dose.”
Jenni continued to improve as the trial progressed, according to Spencer. She regained more than 20 words over the next several weeks, he said, and could do many of the speech therapy tasks she had lost months before.
“This stuff works,” Spencer said. “She’d lost the ability to drink through a straw prior to the drug, and after she started taking it she regained her ability to drink through a straw and swallow. It was a really amazing thing to witness.”
Researchers at BRNI have also tested molecular diagnostics in clinical trials, and have seen positive results in identifying the biomarkers that translate to an increased risk of Alzheimer’s, Alkon said.
“We want to start testing patients in West Virginia and around the region to see if we can identify Alzheimer’s Disease early on, because the earlier we can get to patients, the better we can do in treating them,” Alkon said.
Though Bryostatin is on the verge of its second phase of testing and is one of the institute’s most promising drugs, it is only one of more than 50 trial drugs that the BRNI is working with, and Alkon said it hopes to delve into using Bryostatin to treat other degenerative cognitive diseases, including “fragile X,” a syndrome that typically causes mental handicap.
“The (Food and Drug Administration) has recently approved a 150 patient trial about six months long, and we hope to start that in the next four or five months. That will be a very important trial, and that is our next step,” Alkon said. “We hope to take the diagnostic and start to make in available to people as a service, and to do more trials to develop earlier and earlier links in the diagnostics...and then the other major direction we’re looking at is with fragile X and mental retardation — now that we have orphan drug status, we hope to do a clinical trial for fragile X patients within the next six months to a year.”
By the time BRNI began treating Jenni Spencer, she had developed “end stage” Alzheimer’s disease, according to Alkon. As Jenni improved, her prognosis became “moderately severe” Alzheimer’s, and Spencer said he is confident that if Jenni had had access to Bryostatin earlier in her disease progression, she might have been able to recover.
While being transported to one of her doctor’s visits, Jenni became carsick and aspirated, causing her to develop severe pneumonia that landed her in intensive care at Cabell Huntington Hospital. She eventually recovered, but became sick again after a few weeks. Jenni Spencer died in October 2013 at the age of 39.
“I think if we had gotten it earlier, it might have saved her life,” her husband said. “I think it would have given her some quality of life, but she was just really far gone at that stage.”
Reach Lydia Nuzum at lydia.nuzum@wvgazette.com, 304-348-5189 or follow @lydianuzum on Twitter.
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