Health
Mother frantic to save clinical trial that could cure her daughter: ‘The treatment is sitting in a fridge'
A rare, fatal disease called SPG50 affects fewer than 100 people in the world — and one of them is Naomi Lockard, a 3-year-old in Colorado.
An experimental genetic therapy has shown promise in stopping the disease’s progression — but it is far too expensive for most families to afford.
Rebekah Lockard, the girl’s mother, is on a mission to raise the funds needed to save her daughter’s life.
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Spastic paraplegia 50 (SPG50) is a neurological disorder that affects a child’s development, gradually leading to cognitive impairment, muscle weakness, speech impairment and paralysis, according to the National Organization for Rare Disorders.
Most people with the disease will die by the time they reach their 20s.
A rare, fatal disease called SPG50 affects fewer than 100 people in the world — and one of them is Naomi Lockard, a 3-year-old in Colorado (pictured at right and with her family at left). (Rebekah Lockard)
When Naomi Lockard was born in 2017, her parents immediately noticed some developmental delays.
By around six months, when she still “wasn’t really moving,” Lockard said, they started the baby in physical therapy, which didn’t help.
Eventually, an MRI and full genetic testing panel revealed the shocking diagnosis of SPG50.
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At the time, Lockard was just a month away from giving birth to her second child — which added another element of fear given that the condition is genetic.
“My husband and I each have one healthy copy of this gene, but we each have one mutated copy,” she told Fox News Digital in a phone interview.
“Naomi got both mutated copies, and there was a 25% chance that Jack would also get both mutated copies,” Lockard, pictured with her family, told Fox News Digital. (Rebekah Lockard)
“Naomi got both mutated copies, and there was a 25% chance that Jack (the second baby) would also get both mutated copies.”
“It was a lot of panic at first, a lot of tears, because it’s a horrible condition,” Lockard said.
A few weeks later, after Lockard gave birth, another round of genetic testing revealed the family’s worst fear: Baby Jack also had SPG50.
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“Children with SPG50 may experience early developmental delays, muscle weakness, and spasticity, but they continue to strive and adapt,” Dr. Eve Elizabeth Penney, an epidemiologist at the Texas Department of State Health Services and medical contributor for Drugwatch, told Fox News Digital.
Fewer than 100 people in the world are known to have SPG50.
“Over time, these symptoms can worsen, making it hard for affected individuals to walk and perform daily activities,” added Penney, who was not involved in the Lockard children’s care.
“The prognosis varies from person to person, but it’s generally a progressive condition, meaning symptoms can become more severe over time.”
A glimmer of hope
There is currently no FDA-approved treatment for SPG50, but the Lockards found hope when they enrolled in a clinical trial for an experimental gene therapy that was started by another parent, Terry Pirovolakis.
“It’s kind of like a transplant for genes,” Lockard told Fox News Digital. “It functions like a treatment, or maybe even a cure.”
The procedure, which involves injecting cerebral spinal fluid through a lumbar puncture, does come with risks.
Naomi Lockard, left, just turned 3 years old. She has not received the gene therapy. Jack Lockard, right, was treated at 6 months old. (Rebekah Lockard)
“But it’s worth the risk, because it’s the only thing that could possibly help prevent the condition from getting worse,” Lockard said.
Her newly diagnosed baby — who was just shy of six months old — received the gene therapy treatment first, as there was a better chance of stopping the disease at a younger age.
He was the youngest child ever to receive an intrathecal (spinal) gene therapy treatment.
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“Jack has thrived since then,” Lockard said. “He is sitting independently, banging toys together, drinking from a straw cup, and working really hard on crawling.”
She added, “Doctors and therapists share the same sentiment: The treatment works!”
Other children who participated in the trial have experienced similar results, Lockard said.
“They’ve all shown that their disease has stopped progressing and their cognition has improved,” she said.
“Naomi just turned 3, and she only learned to crawl about six months ago. She can’t walk or talk, and her cognitive level is probably that of a 9-month-old,” her mother told Fox News Digital. (Rebekah Lockard)
Lockard’s daughter, Naomi, has not yet received the therapy.
“We can’t help but compare Jack and Naomi, and we see how he’s meeting these milestones. He’s caught up to her developmentally, and he’ll probably surpass her within the next few months, even though they’re two years apart,” Lockard said.
“Naomi just turned 3, and she only learned to crawl about six months ago. She can’t walk or talk, and her cognitive level is probably that of a 9-month-old.”
“Kids develop paralysis in elementary school, become quadriplegic in high school and pass away in their 20s.”
Although her daughter will likely always have deficiencies, as she’s missed the “critical window” of development, the gene therapy could still stop further progression.
“If they can treat her before she gets the paralysis, the hope is that she’ll never develop that,” Lockard said.
If her daughter doesn’t receive the therapy, she will likely experience the typical trajectory of the disease, Lockard said.
“We can’t help but compare Jack and Naomi, and we see how he’s meeting these milestones,” said Lockard. “He’s caught up to her developmentally, and he’ll probably surpass her within the next few months, even though they’re two years apart.” (Rebekah Lockard)
“Kids develop paralysis in elementary school, become quadriplegic in high school and pass away in their 20s — never learning to talk, and losing any ability to move over the course of their short lives.”
The problem is that the clinical trial has run out of funding.
Cost and complexity
Dr. Penney noted that treatment for SPG50 is challenging and expensive to develop — “mainly because it’s a sporadic disease.”
The doctor told Fox News Digital, “Pharmaceutical companies often prioritize conditions that affect larger populations, with a more significant potential for recouping research and development costs.”
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“The market is much smaller for rare diseases like SPG50, making it financially less viable for companies to invest in creating a treatment.”
Developing treatments for genetic disorders requires significant research, time and specialized technology, Penney added, all of which add to the cost and complexity.
Terry Pirovolakis, pictured with his family, used his life savings to create a genetic therapy for his youngest son, center, who has SPG50. (Terry Pirovolakis)
In the absence of a cure, most families can only manage symptoms through physical therapy, occupational therapy, speech therapy and medications to help control spasticity or seizures, Penney said.
“Managing SPG50 requires a comprehensive, multidisciplinary approach to address its various symptoms and challenges,” Penney said.
Fighting to keep hope alive
The experimental trial that potentially saved Jack Lockard’s life was started by another parent, Terry Pirovolakis.
Pirovolakis, based in Canada, found out in 2017 that his youngest son, Michael, had SPG50.
“They told us he would be paralyzed from the waist down by the age of 10, and a quadriplegic by the age of 20,” Pirovolakis told Fox News Digital in an interview. “They said he would need support for the rest of his life.”
Pirovolakis’ two older children, pictured with their little brother, Michael (bottom left), do not have the disease. (Terry Pirovolakis)
Pirovolakis refused to accept that. He immediately started doing research and traveling around the world to gene therapy conferences, speaking with medical experts about his son’s disease.
Eventually, he liquidated his life savings, refinanced his home and paid a team of scientists at the University of Texas Southwester Medical Center to create a “proof of concept” for a genetic treatment for his son.
“I couldn’t just let these kids die. I had to do something.”
After seeing positive results in mice studies, as well as in cells from his son and a few other children with SPG50, Pirovolakis partnered with a small company in Spain to manufacture the drug.
In Dec. 2021, Health Canada granted Pirovolakis permission to move forward with the gene therapy for his son.
In Dec. 2021, Health Canada granted Pirovolakis permission to move forward with the gene therapy for his son, Michael (above), who has shown positive results. (Terry Pirovolakis)
“After that, we had three more doses, and we decided that we had to help other kids,” Pirovolakis said.
“I couldn’t just let these kids die. I had to do something.”
He opened a Phase 2 study in the U.S., in which three more children with SPG50 were treated — including Jack Lockard.
“I tried to give the therapy to pharmaceutical companies, but no one wanted to make it, so I quit my job and started a nonprofit, CureSPG50, in California,” Pirovolakis said.
“We now have five employees and 20 consultants, and our goal is to save kids with five diseases, almost all of them fatal.”
Next, Pirovolakis will start a Phase 3 study at the National Institute of Health for SPG50, with future trials planned for other diseases.
“Doctors are ready. There just isn’t enough money to make it happen.”
The problem is that without the backing of major drug companies, there isn’t funding available to dose the therapies to the children who need it.
“They have eight doses that were produced in Spain and have been flown to the U.S.,” Lockard said.
“It’s here, just literally sitting in a refrigerator, ready to go. Doctors are ready. There just isn’t enough money to make it happen.”
Young Michael Pirovolakis is pictured with his mother, Georgia Pirovolakis. (Terry Pirovolakis)
It costs about $1 million to make the drug for each child, Pirovolakis said, and another $300,000 or so to treat each patient in the U.S. at the hospital.
While Pirovolakis and his team are actively working to secure grants and investors, it’s largely up to the parents to raise funds for the next phase of the clinical trial.
So far, Lockard has raised $50,000 via a GoFundMe fundraiser, but that is only a fraction of what is needed to get her daughter treated.
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“Right now, there are four families in the U.S. who are trying really hard to fundraise the money that’s needed, because time is of the essence,” he said.
“We want to make sure the trial moves on and these kids get treated.”
The end goal
Looking ahead to the Phase 3 clinical trial at the NIH, Pirovolakis’ goal is to treat eight children with SPG50.
“If we can show that it works in all eight children — and we can prove to the FDA that it is making a difference — then the drug will get approved and every child can get it,” he said.
“I get calls at least five times a week from families around the world, asking to help me save their kids.”
Ideally, after the drug is approved — which could take three to five years, Pirovolakis estimates — SPG50 will be added to hospitals’ newborn screening programs and every child with the disease will be able to get the therapy.
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“I get calls at least five times a week from families around the world, asking to help me save their kids,” he said.
“It’s tough — there’s only so much you can do, and unfortunately, this is a money problem. It’s just heartbreaking.”
Over the two and a half years following the 2022 rollout of the 988 national suicide prevention hotline, the rate of suicides among young people in the United States dropped 11 percent below projections, decreasing most sharply in states with a higher volume of answered 988 calls, a new study has found.
The findings, published today as a research letter in JAMA, compared suicide deaths from July 2022 to December 2024 with sophisticated mathematical projections that were based on historical trends. This yielded good news, with 4,372 fewer suicides of adolescents and young adults, ages 15 to 34, than had been projected.
To ensure that the decline was related to the use of the hotline, researchers at Harvard Medical School teased out the trends in states with high and low usage of the hotline. The findings were striking: The 10 states with the largest increases in 988 calls experienced an 18.2 percent reduction in observed suicides compared with expected suicides; in the 10 states with the lowest uptake, the reduction was smaller, 10.6 percent.
The results suggest that the government’s investment in the 988 rollout has translated into “a measurable reduction of deaths,” said Dr. Vishal Patel, a resident physician at Brigham and Women’s Hospital and one of the authors of the study.
“What our study has added,” he said, “is evidence for the deeper benefit of the program, and that is, that at the population level, among young people at least, suicide mortality is lower than it would have been without the program.”
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He added, “The implication of that is that sustained funding for this program matters.”
The United States rolled out the three-digit hotline with bipartisan support in July 2022, replacing a 10-digit hotline number, and augmented it with a $1.5 billion investment in crisis center capacity. Since its inception, the service has fielded more than 25 million contacts, according to the Department of Health and Human Services. The agency has asked Congress for $534.6 million to fund the program for 2027.
Last summer, the Trump administration terminated one element of the hotline, the Press 3 option for L.G.B.T.Q.+ callers. The Substance Abuse and Mental Health Services Administration said that the Press 3 option was being discontinued because it had exhausted its funding from Congress and that the hotline would “focus on serving all help seekers.”
But advocacy groups and policymakers protested the decision, and in testimony before the Senate on Tuesday, the health secretary, Robert F. Kennedy Jr., said his agency was planning to restore the Press 3 option.
Dr. Patel said his group had become curious about measuring the program’s effectiveness after Press 3 was eliminated. While call volume and satisfaction surveys suggested that 988 was succeeding, he said, the harder question was, “Did the creation of this 988 program, the transition from the old hotline to this hotline, actually move the needle on suicide mortality?”
Experts said it was difficult to tease out the beneficial effect of 988 from other things that changed in 2022, the year that the new hotline was created. Around that time, suicide prevention programs were being introduced in schools, in faith communities and on social media, but more important, the pandemic was ending.
“We were finally out of this crazy time, and there was a sense of optimism and hope,” said Jonathan B. Singer, a professor of social work at Loyola University Chicago and a co-author of “Suicide in Schools.” He called the downward trend in youth suicides “encouraging, but it is tempered by the fact that we don’t have a good explanation as to why.”
The authors acknowledged that their findings could not account for the influence of social and economic changes, changes in mental health services or public awareness about services.
But they did make comparisons to exclude other possible explanations. The authors looked for similar effects among American adults over 65, who are less likely to use the hotline. In that group, there was a reduction in suicides that exceeded expectations, but it was smaller, at just 4.5 percent.
To ensure the decline in suicides did not reflect a general improvement in young-adult mortality, the researchers tracked cancer deaths, and found there was no change. They also looked at the rates of suicide among young people in England, where no change had been made to the national crisis line in that time period; they found no reduction in youth suicides there.
Hannah Wesolowski, chief advocacy officer for the National Alliance on Mental Illness, said she was persuaded that the hotline had contributed to the improvement in suicide rates, in part because it did not appear among English youths or in older Americans.
“To me, that really helps hone in that this might really be the differentiator,” she said. “We are seeing potentially a pretty significant decline in suicides among young people. For public policy, this is strong evidence to double down on that we are doing.”
Emily Hilliard, a senior press secretary at the Department of Health and Human Services, said H.H.S. and SAMHSA are “committed to ensuring that all Americans have access” the 988 line, which she said “clearly provides lifesaving support, helping millions of people every year.”
If you are having thoughts of suicide, call or text 988 to reach the 988 Suicide and Crisis Lifeline or go to SpeakingOfSuicide.com/resources for a list of additional resources.
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A highly contagious digestive virus is surging across the U.S., experts warn.
Rotavirus, a double-stranded RNA virus, causes acute gastroenteritis — inflammation of the stomach and intestines — which can lead to severe diarrhea, vomiting, fever and stomach pain.
The virus primarily affects infants and young children, but there have also been outbreaks in elderly populations, such as nursing homes.
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Data from the Centers for Disease Control and Prevention shows that in the week ending April 4, out of 2,329 rotavirus tests, 7.3% were positive for the infection. Last year’s highest infection rate was 6.77% as of the week ending April 19.
Rotavirus, a double-stranded RNA virus, causes acute gastroenteritis — inflammation of the stomach and intestines — which can lead to severe diarrhea, vomiting, fever and stomach pain. (iStock)
“We’re seeing a lot of rotavirus in the wastewater right now,” Dr. Marc Siegel, Fox News senior medical analyst, confirmed to Fox News Digital. “Testing for rotavirus is way down, but the percentage of positive tests is up.”
While the virus typically peaks in the spring, it is not currently slowing down, he noted.
Why cases may be rising
Patricia Pinto-Garcia, M.D., a medical editor at GoodRx who is based in California, said there are several possible reasons for the rotavirus spike.
“Vaccine rates are down overall among young children, as they decreased during COVID,” she told Fox News Digital. “This means there’s a growing number of infants and young children who are vulnerable to infection.”
The rotavirus vaccine series must be completed by the time a child is 8 months old, she noted.
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As a result of the declining vaccinations, herd immunity isn’t protecting vulnerable children, according to Pinto-Garcia. “Children who haven’t finished the vaccine series yet, are too young to get vaccinated, or can’t get the vaccine due to medical illness are more likely to get exposed to the illness because other children aren’t vaccinated,” she said.
Siegel noted that before the vaccine became available, rotavirus resulted in 55,000 to 70,000 in the U.S. per year.
“Vaccine rates are down overall among young children, as they decreased during COVID,” a doctor told Fox News Digital. “This means there’s a growing number of infants and young children who are vulnerable to infection.” (iStock)
“I am concerned that the vaccination rate has been declining over the past seven years and is continuing to decline in the current climate of vaccine skepticism,” he said.
Surveillance methods are also much better than they used to be, Pinto-Garcia noted, which means public health experts are able to pick up and track cases better than ever before.
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“But we see that rotavirus-related healthcare visits are also up, so improved detection is not the only reason we are seeing this spike,” she said.
The COVID pandemic also disrupted the pattern of infections, according to Pinto-Garcia, so it’s “tricky” to compare the current levels against older cycles.
“It’s possible that what we are seeing is still some post-pandemic rebound, but it’s unlikely that this year’s pattern is fully explained by just this factor,” she added.
Transmission and risk
Dr. Zachary Hoy, a pediatric infectious disease specialist at Pediatrix Medical Group based in Nashville, Tennessee, often sees young patients with rotavirus.
“Rotavirus is spread via the fecal-oral route, meaning that a person comes into contact with virus droplets from contact with other children or adults, or from contact with objects such as toys that have been contaminated with the virus from someone who is sick,” he told Fox News Digital. “This can lead to outbreaks, especially at schools where many young children share the same toys.”
“It’s possible that what we are seeing is still some post-pandemic rebound, but it’s unlikely that this year’s pattern is fully explained by just this factor.”
Rotavirus is associated with many dehydration cases in the hospital due to the degree of diarrhea, according to Hoy.
In some severe cases, the virus can lead to seizures due to electrolyte imbalances from dehydration and loss of electrolytes in the stool.
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“Younger children do not have the reserves that older children and adults have, so they can become more dehydrated quicker and develop more severe electrolyte imbalances, leading to more severe infections,” Hoy said.
“Patients with problems with their immune systems or on medications that can decrease their immune systems can have more severe and prolonged infections, too.”
Treatment and care
Because rotavirus is a viral infection, antibiotics are not effective against it. There is no specific antiviral treatment for the condition, with doctors typically recommending supportive care.
“The mainstay of treatment is hospitalization for rehydration via intravenous (IV) fluids,” Hoy told Fox News Digital. “Sometimes it can take up to two to three days of IV fluids to help get patients rehydrated.”
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Blood draws are often necessary to evaluate patients’ electrolyte levels, such as sodium, potassium, calcium and magnesium, according to the doctor.
“If these electrolyte levels are significantly low, sometimes patients need special IV solutions or individual electrolyte medications,” he added.
“The mainstay of treatment is hospitalization for rehydration via intravenous (IV) fluids,” a doctor told Fox News Digital. (iStock)
Dr. Daniel Park, medical director of the Pediatric Emergency Department at UNC Health in Chapel Hill, North Carolina, noted that most children recover with supportive care, but parents should seek medical attention if a child shows signs of dehydration. Those include decreased urination, lethargy or inability to keep fluids down.
“While rare, rotavirus can be life-threatening in vulnerable populations, especially very young infants or children with underlying medical conditions,” Park told Fox News Digital.
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Prevention strategies
Given the lack of antiviral medications for rotavirus, doctors emphasize the importance of prevention, primarily the vaccine.
There are two rotavirus vaccines – Rotateq (a three-dose series) and Rotarix (a two-dose series). They are given starting at age 2 months as oral drops, not injections, according to Hoy.
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“It’s important to get the rotavirus vaccines on schedule, because these younger infants are at greatest risk if they get rotavirus,” he advised.
Other recommended prevention methods include handwashing with soap and water.
Every day we’re faced with a zillion small choices: Go to sleep early, or watch one more episode of that Netflix drama. Call an old friend to catch up, or cruise social media. Of course, no single action will guarantee a long, healthy life or doom you to an early grave. But those little daily decisions do add up, and over the long term they can make a difference when it comes to both your longevity and your health span, the amount of life spent in relatively good health.
Scroll through this theoretical “day in the life” and select the option that best fits your typical day. Not every situation will apply perfectly, but think about which choice you’d be most likely to make. This isn’t a formal scientific assessment. The goal here isn’t to assign you a “good” or “bad” score, but to help you understand the central factors that shape the way we age and how long we live.
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