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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Parents are being warned of a new trend among kids, involving alcohol and an open flame.
The “fire-breathing” challenge has led to reports of severe burns, according to local news outlets.
Kids and teens are reportedly holding alcohol in their mouths and blowing it onto a match or another open flame to mimic “breathing fire.”
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According to Philadelphia’s 6ABC News (WPVI), a teen in Pitcairn, Pennsylvania, was intubated and treated for burns to the face, neck and chest after attempting the trend.
A “fire-breathing” challenge is leaving kids with severe burns, according to local reports. (iStock)
“Luckily, in this particular case, it did not burn the building down,” Al Hussey, Wilmerding Borough fire marshal, told WPVI.
“But somebody really got hurt, and, you know, is going to have life-altering injuries.”
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Pitcairn Fire Chief Tommy Dick told CBS News Pittsburgh (KDKA) the 14-year-old girl was playing with isopropyl alcohol at an apartment complex.
“It’s not a very smart thing for anybody to do, let alone children,” Dick said. “It’s supposed to be for cleaning off wounds and cuts and stuff, not ingesting and trying to blow fire.
A local fire chief told CBS News Pittsburgh that the incident could have been fatal for the teen. (iStock)
“This could have easily gone inside their digestive tract, and she could have died.”
Anyone who has ingested isopropyl alcohol requires immediate medical attention, according to Healthline, because it can cause stomach pain, dizziness, confusion and slowed breathing. In severe cases, it can lead to a coma.
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Fire experts are urging parents to closely monitor which household products are within their children’s reach.
Ingesting isopropyl alcohol requires immediate medical attention, according to experts. (iStock)
“If they’re doing their hair with chemicals, if they’re taking isopropyl alcohol in the room or any type of fingernail polish remover,” Hussey said. “Obviously, monitor your lighters and your matches and educate your children.”
Multiple cases of children’s injuries have occurred in recent weeks after being allegedly “inspired” by online stunts, WPVI reported. One trend involved microwaving a toy that burst and left severe burns on a 9-year-old’s face.
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Valerian, an herbal supplement long used for sleep and relaxation, has been referred to as “nature’s Valium” — but experts are divided on whether it truly compares to the prescription sedative.
The herb, which is sold as a dietary supplement in the U.S., is a common ingredient in products marketed as “mild sedatives” and sleep aids, according to the National Institutes of Health.
Valium, the brand name for diazepam, is used to treat anxiety, seizures and muscle spasms by calming the nervous system, Cleveland Clinic notes.
Valerian supplements are derived from the roots of Valeriana officinalis, a flowering plant native to Europe and Asia that has also naturalized in northeastern America, according to the American Botanical Council (ABC).
The plant has a “long history of medicinal use,” per the ABC, with the primary goal of reducing anxiety and stress as well as improving sleep quality. It has historically also been used for migraines, fatigue and stomach cramps.
Valerian has historically been used for migraines, fatigue and stomach cramps. (iStock)
Dried valerian roots can be prepared as teas or tinctures, while other plant materials and extracts have been distributed as capsules or tablets, per the NIH.
The agency noted, however, that there is a “relatively small amount of research” investigating the herb’s impact on various conditions.
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However, Stefan Gafner, Ph.D., chief science officer of the American Botanical Council in Texas, confirmed that some clinical trials have explored valerian root’s effects.
A 2020 medical review published in the Journal of Evidence-Based Integrative Medicine found that both powdered root and root extracts show a “clear” benefit in treating anxiety, Gafner told Fox News Digital.
Valerian root and other parts of the plant can be prepared as teas, extracts, capsules and tablets. (iStock)
The researchers concluded that valerian could be a “safe and effective herb to promote sleep and prevent associated disorders.”
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While valerian may have some benefits, Gafner said he doesn’t think it “makes sense” to compare it to diazepam (Valium).
“I can understand that both are used to relieve anxiety, but valerian is a much milder ingredient, and is really used for mild cases of anxiety and sleep issues,” he told Fox News Digital.
Some valerian users have reported improved sleep and reduced anxiety, according to recent research. (iStock)
Unlike valerian, diazepam carries a risk of dependence and is generally prescribed short-term, the expert said, and the spectrum of potential adverse effects is “very different.”
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Gafner said he “absolutely” recommends the use of valerian root to relieve anxiety and stress and to improve sleep.
“I have used it myself and I believe it’s an ingredient with well-documented benefits, especially for people with problems falling asleep,” he said. “It is well-tolerated and very safe… although some sources caution [against] driving a car or using heavy machinery when using valerian.”
Valeriana officinalis, a herbal plant used as a mild sedative, in bloom. (iStock)
Dr. Joseph Mercola, a board-certified family medicine osteopathic physician and author of the new book “Weight Loss Cure,” said valerian’s comparisons to Valium may “exaggerate what the science actually shows.”
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“Valerian root contains compounds that appear to enhance calming brain chemicals, particularly the neurotransmitter GABA, which helps quiet nerve activity and supports relaxation,” the Florida-based expert told Fox News Digital.
“Some studies do report modest improvements in sleep quality or shorter time to fall asleep, while others find no meaningful difference compared with placebo.”
Valerian supplementation may not be right for everyone seeking better sleep, one doctor said. (iStock)
Side effects may include headaches, dizziness, digestive upset or next-day grogginess, Mercola noted, adding that he would not recommend it as a primary strategy for anxiety, stress or sleep.
“Because long-term safety studies remain limited, and supplement quality varies widely, you should approach valerian with caution rather than view it as a universal sleep solution,” he advised.
“You should approach valerian with caution rather than view it as a universal sleep solution.”
“I encourage people to focus first on strategies that correct the underlying drivers of poor sleep,” Mercola advised. “When you fix those foundations, you often find that you no longer need an herbal sedative at all.”
“I encourage people to focus first on strategies that correct the underlying drivers of poor sleep,” one doctor advised. (iStock)
“Bright sunlight during the day helps regulate your circadian rhythm and signals your brain to produce melatonin later at night,” he said. “At the same time, complete darkness [at night] supports the hormonal signals that allow deep, restorative sleep.”
Certain nutrients can also promote relaxation and sleep quality, including magnesium, which helps to regulate the nervous system, according to the doctor.
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GABA may help to calm nerve activity, reduce stress markers and improve perceived sleep quality, Mercola said, while glycine — taken at about 3 grams an hour before bed — may support relaxation, promote the body’s nighttime temperature drop, and improve sleep onset and overall quality.
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“When you combine sunlight exposure, magnesium, GABA and glycine, you support the biological systems that control sleep instead of relying on a sedating herb with mixed evidence,” the doctor concluded.
Fox News Digital reached out to valerian root manufacturers requesting comment.
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GLP-1 medications such as Ozempic and Wegovy have transformed treatment for Type 2 diabetes and obesity, but new research suggests doctors may need to pay closer attention to bone health, especially in older patients taking the drugs.
Older adults with Type 2 diabetes who started GLP-1s had an 11% higher risk of fragility fractures compared to those taking other diabetes medications, a study published in February in the Journal of Clinical Endocrinology & Metabolism found.
Dr. Michal Kasher Meron, an endocrinologist at Meir Medical Center in Israel and lead author of the study, said the relative increase may sound small, but it carries weight for an at-risk population.
“Both older age and Type 2 diabetes are independent risk factors for fragility fractures,” Kasher Meron told Fox News Digital. “This is a population that deserves special attention.”
A new study suggests older adults with Type 2 diabetes taking GLP-1 medications may face increased fracture risk. (iStock)
Fragility fractures are breaks from minor falls or routine activity, often linked to osteoporosis, and can lead to hospitalization, loss of independence and even increased mortality in older adults, Kasher Meron noted.
The study followed more than 46,000 adults 65 and older for nearly three years. After adjustments, GLP-1 users had a modest but statistically significant increase in fracture risk.
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Previous research in younger patients using older GLP-1s did not show increased fracture risk, but newer, more potent versions are now widely prescribed to older adults, Kasher Meron noted.
“In older adults treated with contemporary medications, the fracture risk picture looks different and warrants close attention,” she said.
Separate research found slightly higher rates of osteoporosis and gout among adults using GLP-1s. (iStock)
The study, however, was observational, meaning it shows an association but not causation. Researchers were unable to determine whether the risk was driven by weight loss, changes in diet, muscle loss or a direct effect on bone.
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Nonetheless, Kasher Meron says, “Bone health should be assessed before starting these medications in older patients — not as an afterthought.”
The findings come as separate research presented at the American Academy of Orthopaedic Surgeons’ annual meeting this month raised additional bone health concerns.
In an analysis of more than 146,000 adults with obesity and Type 2 diabetes, GLP-1 users were found to have a 29% higher relative risk of osteoporosis over five years compared to nonusers, according to reports.
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Rates of gout were also slightly higher, affecting 7.4% of GLP-1 users compared to 6.6% of nonusers — about a 12% relative increase.
Experts recommend bone density screening for older adults taking GLP-1 medications. (iStock)
Osteomalacia, a softening of the bones, was rare but occurred about twice as often in GLP-1 users, according to the study, which has not yet been peer reviewed. It was also observational, showing only an association. Fox News Digital has reached out to the researcher for comment.
Several mechanisms could be at play, experts say. GLP-1 medications suppress appetite and can lead to rapid weight loss. Significant weight loss is known to reduce bone density, partly because less mechanical load is placed on the skeleton.
“It’s the same idea as when we always hear about astronauts going up into space, and they’re in a gravity-zero environment for too long,” lead author Dr. John Horneff, an associate professor of orthopedic surgery at the University of Pennsylvania, told NBC News.
“There’s nothing forcing their bones to kind of hold their weight anymore. And a lot of those astronauts come back with low bone density.”
Additionally, eating fewer calories may also mean lower intake of calcium, vitamin D and protein, nutrients critical for bone strength.
GLP-1 medications like Ozempic and Wegovy are widely used to treat Type 2 diabetes and obesity. (iStock)
Rapid weight loss can also temporarily increase uric acid levels, a byproduct of tissue breakdown, which may explain the uptick in gout cases.
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Despite the findings, experts say the results should not discourage appropriate use of GLP-1 medications, which have proven benefits for blood sugar control, weight loss and cardiovascular risk reduction.
In addition to bone density screening, experts say patients should ensure adequate nutrition and resistance training to help preserve muscle and bone during weight loss.
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A spokesperson for Novo Nordisk, which manufactures GLP-1 medications, said the company prioritizes patient safety, works closely with the U.S. Food and Drug Administration (FDA) and welcomes independent research into its products.
Experts also recommend proper nutrition and resistance training to help preserve muscle and bone health during weight loss. (iStock)
The known risks and benefits of the drugs are reflected in the current FDA-approved labeling, Liz Skrbkova, head of U.S. media relations for Novo Nordisk, told Fox News Digital. She emphasized that semaglutide has demonstrated cardiovascular, kidney and liver benefits when used under medical supervision.
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“Osteoporosis is a complex condition that develops over many years as a result of interdependent risk factors,” Skrbkova added.
Fox News Digital’s Melissa Rudy contributed reporting.
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