Health
Father created a drug to save his son from a rare disease, now other families are desperate to get it
When his infant son was diagnosed with a rare, fatal disease, a Canadian father was dismayed to discover there was no treatment or cure. So he set out to make one himself.
Terry Pirovolakis, an IT director in Toronto, Ontario, welcomed his third son in Dec. 2017. It was a “normal, healthy birth,” he told Fox News Digital — but within six months, he and his wife, Georgia Pirovolakis, noticed their baby, Michael, was not lifting his head.
“He just didn’t seem like he was meeting his milestones,” Pirovolakis said.
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After months of doctors’ appointments, physiotherapy and genetic testing — what Pirovolakis describes as an “18-month diagnostic odyssey” — a neurologist diagnosed baby Michael with spastic paraplegia 50 (SPG50), a neurological disorder that affects fewer than 100 people in the world.
“They told us to just go home and love him — and said he would be paralyzed from the waist down by age 10, and quadriplegic by age 20,” Pirovolakis said.
When Michael Pirovolakis, pictured. was diagnosed with a rare, fatal disease as an infant, his father, Terry Pirovolakis, was dismayed to discover there was no treatment or cure. That’s when he set out to make one himself. (Terry Pirovolakis)
“They said he’d never walk or talk, and would need support for the rest of his life.”
What is SPG50?
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.
“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.
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“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 Michael Pirovolakis’ care.
“The prognosis varies from person to person, but it’s generally a progressive condition, meaning symptoms can become more severe over time,” she also said.
Georgia Pirovolakis (left) is pictured with her two sons, including baby Michael, who was diagnosed with 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,” she added.
A father’s mission
There is no treatment currently approved by the U.S. Food and Drug Administration (FDA) for SPG50.
After the shock of the diagnosis, Pirovolakis immediately started researching, with a focus on finding a gene therapy that could help his son.
“They said he would be paralyzed from the waist down by age 10, and quadriplegic by age 20.”
A month after his baby’s diagnosis, Pirovolakis flew to Washington, D.C., for a gene therapy conference, where he met with several experts. He also visited Sheffield, England, and the National Institutes of Health at the University of Cambridge, where scientists had been studying the disease.
“We then liquidated our life savings, refinanced our home and paid a team at the University of Texas Southwestern Medical Center to create a proof of concept to start Michael’s gene therapy,” Pirovolakis said.
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)
After successful tests showed the gene therapy was effective at stopping the disease’s progression in mice and in human cells, Pirovolakis worked with a small drug company in Spain to manufacture the drug.
On Dec. 30, 2021, Health Canada granted approval to move forward with the gene therapy for Michael Pirovolakis.
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“On March 24, 2022, my son was the first person to ever get treated with gene therapy at SickKids in Toronto,” Pirovolakis said.
The procedure, which involves injecting cerebral spinal fluid through a lumbar puncture, does come with risks — but the potential benefits are life-saving.
‘I couldn’t let them die’
After Michael Pirovolakis received the one-time treatment, there were three more doses left.
“We decided that we had to help other kids,” Pirovolakis said.
“When I heard that no one was going to do anything about it, I had to — I couldn’t let them die.”
Pirovolakis’ two older children, pictured with their little brother, Michael, bottom left, do not have the disease. (Terry Pirovolakis)
Pirovolakis opened up a Phase 2 study in the U.S., which treated three children two years ago.
One of those was 6-month-old Jack Lockard, the youngest child to ever receive the treatment.
“Jack has thrived since then,” Rebekah Lockard, the boy’s mother, told Fox News Digital.
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“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.
The Lockard family, shown here, is fighting to raise funds to obtain treatment for their daughter Naomi, at right, who has SPG50. (Rebekah Lockard)
“They’ve all shown that their disease has stopped progressing and their cognition has improved.”
There are more children who still need the treatment — including Lockard’s first child, 3-year-old Naomi, who also has SPG50 — but are unable to access it because the clinical trial has now run out of money, as Fox News Digital previously reported.
‘Time is of the essence’
It costs about $1 million to make the drug for each child, Pirovolakis said, and another $300,000 or so to treat the patient in the U.S. at the hospital.
Pirovolakis has approached pharmaceutical companies, but all of them have declined to manufacture the drug.
“We want to make sure the trial moves on and these kids get treated.”
“No investor is going to give you money to treat a disease that is not going to make money,” he said. “That’s the dilemma we’re in.”
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 more than $90,000 via GoFundMe (called “Naomi and Jack Battle SPG50”) to get her daughter’s treatment, but that is only a fraction of what is needed. (Rebekah Lockard)
So far, Lockard has raised more than $90,000 via GoFundMe (called “Naomi and Jack Battle SPG50”) to get her daughter’s treatment, but that is only a fraction of what is needed.
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.”
To devote himself to the cause, Pirovolakis quit his job and started a nonprofit in California, which now has five employees and 20 consultants.
The company — called Elpida Therapeutics, after the Greek word for “hope” — will run a Phase 3 study for SPG50 at the NIH in November.
Terry Pirovolakis, second from left, is pictured with members of his team at his nonprofit, Elpida Therapeutics. Elpida Therapeutics has partnered with the Columbus Children’s Foundation (Fundación Columbus in Spain) and CureSPG50 to help save children with the disease. (Pirovolakis)
Without the backing of major drug companies, however, there isn’t funding available to get the therapies to the children who need them.
Eight doses of the drug for SPG50 were produced in Spain and have been flown to the U.S.
“The treatment is here, just literally sitting in a refrigerator, ready to go,” Lockard said. “Doctors are ready. There just isn’t enough money to make it happen.”
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There are currently four families in the U.S. who are trying to raise the money that’s needed, according to Pirovolakis.
“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.
Michael Pirovolakis is pictured walking with the aid of a walker. 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. (Terry Pirovolakis)
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.
Elpida Therapeutics has partnered with the Columbus Children’s Foundation (Fundación Columbus in Spain) and CureSPG50 to help save children with the disease.
“Our partnership with Elpida is driven by an unwavering commitment to leaving no child behind,” Sheila Mikhail, co-founder of the CCF, said in a statement to Fox News Digital.
“At the Columbus Children’s Foundation and Fundacion Columbus, as a global organization, we believe that every child deserves a chance for a healthy future. Together, we’re making groundbreaking strides in treating ultra-rare genetic disorders, ensuring that no child is left to face these challenges alone.”
“The biggest challenge in providing treatment for children with rare diseases often comes down to a lack of funding and vision.”
Pirovolakis said he gets several calls each week from families around the world, asking for help saving their children.
“Unfortunately, the biggest challenge in providing treatment for children with rare diseases often comes down to a lack of funding and vision,” he told Fox News Digital.
After Jack Lockard, pictured, received the gene therapy at 6 months old, the family soon noticed improvements in his cognitive and physical milestones. (Rebekah Lockard)
“The technology to cure our children is already here. I hope that someone with immense wealth — and more importantly, the vision and influence — will step in,” he said.
“Their support could not only impact a handful of diseases and children, but extend hope to thousands of rare diseases and millions of children, both this generation and the next.”
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Currently, 40 million Americans are living with a rare disease, and one in 10 will be afflicted by a potentially treatable rare condition.
Pirovolakis added, “Someone you know or love will likely be affected by a rare disease.”
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The release of an updated food pyramid this week has sparked mixed reactions from doctors and dietitians.
One of the most noteworthy shifts in the 2025-2030 Dietary Guidelines for Americans — announced by HHS officials during a Jan. 7 press conference at the White House — is a greater emphasis on “high-quality proteins,” including red meat and eggs, as well as full-fat dairy.
The new guidelines focus on “real, whole, nutrient-dense foods,” and a dramatic reduction in highly processed foods, added sugars, refined carbohydrates and unhealthy fats.
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“Protein and healthy fats are essential and were wrongly discouraged in prior dietary guidelines,” Health Secretary Robert F. Kennedy Jr. said during the press conference. “We are ending the war on saturated fats.”
Nick Norwitz, a Harvard- and Oxford-trained researcher known for his work in metabolic health, shared his reaction to the new guidelines.
The release of an updated food pyramid this week has sparked mixed reactions from doctors and dietitians. (realfood.gov)
Despite how the new pyramid is presented, he noted, the actual guidelines for saturated fat consumption haven’t changed, as they still state that, “in general, saturated fat consumption should not exceed 10% of total daily calories.”
The intake of unprocessed whole foods rich in saturated fat, especially dairy fat, tends to be associated with improved health outcomes, according to Norwitz.
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“Full-fat dairy — especially cheese, for example — tends to be associated with lower BMI, reduced rates of diabetes and even reduced dementia risk,” he told Fox News Digital. “There are, of course, nuances — but ‘ending the war’ on saturated fat seems reasonable.”
Risks vary, experts say
Experts cautioned about the potential health risks of exceeding the recommended intake of saturated fat, including higher rates of LDL “bad” cholesterol, which is known to increase the risk of cardiovascular disease.
“The recommendation to limit saturated fat to 10% of total calories is based on the research showing that higher rates increase LDL cholesterol and associated risks for cardiovascular disease,” Sherry Coleman Collins, a food allergy dietitian and expert from the Atlanta metropolitan area, told Fox News Digital.
One of the most noteworthy shifts in the 2025-2030 Dietary Guidelines for Americans is a greater emphasis on “high-quality proteins” — including red meat and eggs — as well as full-fat dairy. (iStock)
Nutrition should be personalized and is dependent on multiple factors, she said, including age, gender, activity level and genetic risk factors.
“The total saturated fat an individual might safely consume is influenced by their size and total calorie needs, as well as potentially genetic differences,” Coleman Collins said.
Norwitz agreed, adding that “the specific food source and interaction with the unique host and their broader dietary context should take the spotlight.”
Dr. Pooja Gidwani, a double board-certified doctor of internal medicine and obesity medicine in Los Angeles, pointed out that not everyone has the same “tolerance” for saturated fats.
“If increasing saturated fat leads to a meaningful rise in LDL cholesterol or ApoB (Apolipoprotein B, a protein found on the surface of certain cholesterol-carrying particles in the blood), that intake level is excessive for that individual, regardless of improvements in weight or glucose metrics,” she said.
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“This personalized approach becomes increasingly important in midlife and beyond, when cardiovascular disease becomes the dominant driver of morbidity and mortality and when tolerance for cumulative atherogenic (artery-clogging) exposure is lower.”
For those who need to reduce LDL cholesterol or have a higher cardiovascular risk, the American Heart Association recommends an even lower amount of saturated fats — less than 6% of total daily calories.
Experts cautioned about the potential health risks of exceeding the recommended intake of saturated fat, including higher rates of LDL “bad” cholesterol. (iStock)
Gidwani also cautioned that diets emphasizing saturated fat could crowd out fiber and unsaturated fats, “both of which play independent roles in cholesterol clearance, insulin sensitivity, gut health and inflammation.”
“Saturated fat-heavy patterns are also calorie-dense, which can quietly undermine long-term weight management if intake is not carefully regulated,” she added.
Not all saturated fats are equal, experts say
The effects of saturated fat depend on what specific foods are being consumed, according to experts.
“I would recommend choosing minimally processed or unprocessed forms of foods,” said Tanya Freirich, a registered dietitian nutritionist in Charlotte, North Carolina. “For example, in place of a hot dog — which has additives, nitrites, sodium and fillers — consuming a chicken thigh would be a much better choice.”
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Gidwani reiterated that the amount of processing plays a big role.
“Processed meats are consistently associated with worse cardiometabolic outcomes and represent the clearest category to limit,” she said. “The risk here is not only saturated fat, but also sodium load, preservatives and the broader dietary pattern they tend to accompany.”
“Full-fat dairy — especially cheese, for example — tends to be associated with lower BMI, reduced rates of diabetes and even reduced dementia risk,” an expert told Fox News Digital. (iStock)
Unprocessed red meat, the doctor said, can fit into an overall healthy diet in smaller amounts, particularly when consumed alongside fiber-rich plants and minimally processed foods.
“However, from a longevity perspective, it should be viewed as optional rather than foundational, especially for individuals with elevated cardiovascular risk,” she added.
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When it comes to dairy, Gidwani noted that fermented options are “metabolically more favorable” than butter or cream.
“However, saturated fat from dairy is still not necessary to prioritize for metabolic health or longevity,” she said. “Excessive reliance on dairy fat can displace healthier fat sources without offering clear long-term benefit.”
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Overall, the doctor recommends unsaturated fat sources, including extra virgin olive oil, nuts, seeds, avocado and omega-3-rich fish, as primary dietary fats.
“These consistently support lipid profiles, insulin sensitivity and vascular health,” Gidwani said. “Saturated fat can exist within a balanced diet, but it should remain secondary rather than emphasized.”
Why the big picture matters
Saturated fat is just one piece of a much wider nutrition puzzle, the experts agreed.
Unprocessed red meat can fit into an overall healthy diet in smaller amounts, particularly when consumed alongside fiber-rich plants and minimally processed foods, one expert said. (iStock)
“Our heart health is not determined by one type of fat or one type of cholesterol, but the sum of many parts — our entire diet, our exercise habits, our stress and so much more,” Freirich said.
She recommends consulting a registered dietitian for guidance on unique dietary needs based on age, gender, activity level and medical history.
“Our heart health is not determined by one type of fat or one type of cholesterol, but the sum of many parts — our entire diet, our exercise habits, our stress and so much more,” said an expert. (iStock)
New Jersey-based dietitian Erin Palinski-Wade, author of “2-Day Diabetes Diet,” added that the message should be to focus more on overall patterns.
That means “plenty of fiber-rich plants, lean protein at every meal (including those that also contain fiber, such as nuts and seeds) and a reduction in overall intake of added sugars.”
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“That change will drive true health improvements,” she said.
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Missing out on adequate sleep could be taking years off your life.
New research from the Oregon Health & Science University (OHSU), published in the journal Sleep Advances, found that poor sleep may shorten life expectancy more than other lifestyle factors like diet, exercise and loneliness.
The researchers analyzed nationwide CDC survey data, identifying trends associated with average life expectancy by county, according to a press release.
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The study found that lack of adequate sleep led to higher mortality risk in every U.S. state and was the top behavioral driver compared to other factors, only behind smoking.
Senior study author Andrew McHill, Ph.D., associate professor and director of the Sleep, Chronobiology, and Health Laboratory in the OHSU School of Nursing, noted in a statement that he did not expect sleep to be “so strongly correlated” to life expectancy.
Poor sleep is directly correlated with shorter life expectancy, the study reveals. (iStock)
“We’ve always thought sleep is important, but this research really drives that point home: People really should strive to get seven to nine hours of sleep, if at all possible,” he said.
“This research shows that we need to prioritize sleep at least as much as we do [in] what we eat or how we exercise.”
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In a previous interview with Fox News Digital, Dr. Daniel Amen, psychiatrist and owner of Amen Clinics in California, emphasized how important sleep is for brain function and longevity.
Researchers suggest people should prioritize sleep just as much as diet and exercise. (iStock)
“Sleep is so important,” he said. “When you sleep, your brain cleans and washes itself. And if you don’t sleep seven to nine hours at night, your brain looks older than you are — there’s less blood flow, and it increases inflammation in the brain.”
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“Your brain doesn’t have enough time to get rid of the toxins that build up during the day.”
Lack of adequate sleep can lead to poor decisions and foster toxic cycles, the doctor warned.
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“If your brain has less activity in the front part, not only are you tired, but you’re also hungrier, and you’re more likely to not make the best decisions,” he said.
“Which, of course, will stress you out, and then you won’t sleep well the next night.”
A doctor suggests being “purposeful” about going to bed and waking up each day. (iStock)
One small change to promote longevity and brain health is to try getting to bed 15 minutes earlier, Amen suggested.
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“Really be purposeful about not being distracted by Netflix or your phone,” he said.
“And when you get up in the morning, say to yourself, ‘Today is going to be a great day.’ The more positive you are, the better your brain.”
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