Health
Ohio mother hopes for a cure to save her son, 8, from rare, fatal disease: ‘Gut-wrenching’
For the three out of every 100,000 children who are born with Batten disease, the diagnosis is one of the most devastating that a family can receive.
Emily Blackburn, 32, found out in March 2023 that her 7-year-old son, Grayson Naff, has the rare, genetic, fatal disorder.
Now, the Ohio family is faced with the harsh reality that Naff will ultimately lose his sight, then his cognitive abilities and motor skills.
The life expectancy for children with Batten disease is usually five or six years after symptoms begin.
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Shortly before her son started first grade, Blackburn took him to the eye doctor for what she thought was a routine visual exam.
She’d noticed it was more difficult for him to see the TV screen, so she assumed he needed glasses.
Grayson Naff, 8, pictured at right and with his family, was diagnosed with Batten disease in spring 2023. “I really don’t have words for it,” said mom Emily Blackburn to Fox News Digital. (Emily Blackburn)
During the exam, the doctor noticed something concerning in Naff’s retina and sent the family to a retina specialist in Cincinnati.
“At first, they thought that it was a disease called Stargardt, which is where you lose your central vision and become legally blind,” Blackburn told Fox News Digital in an interview.
That was heartbreaking in itself, she said — “enough to send you into a spiral” — but things got even worse when the doctors decided to do some genetic testing to confirm the diagnosis.
Grayson Naff was 7 when he was diagnosed with Batten disease. He still attends his same public school, where he is in second grade. (Emily Blackburn)
It turned out the first diagnosis was incorrect. And with tears in their eyes, the geneticists informed Blackburn during a Zoom call that her son actually had Batten disease.
“We went from thinking our son would become legally blind to finding out that he has this fatal disease with no cure,” Blackburn said. “I really don’t have words for it. It’s unbelievable. It’s soul-crushing.”
What is Batten disease?
A fatal genetic disorder, Batten disease interferes with the body’s ability to eliminate cellular waste, per Cleveland Clinic’s website.
As the excess lipids and proteins build up, they cause vision loss, seizures, cognitive decline, impaired mobility and death.
There is currently no cure for the disorder.
“It’s unbelievable. It’s soul-crushing.”
Batten disease is usually diagnosed through genetic testing, when an abnormal change is found in one of the several genes associated with the disease, noted Christelle Moufawad El Achkar, M.D., a neurologist in the Division of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital.
There are 13 different types of Batten disease, each involving a different gene. Naff was diagnosed with CLN3.
Grayson Naff is pictured with his little brother. “Grayson is such a great big brother to Beckett,” Blackburn said. “They’re best friends.” (Emily Blackburn)
“Within each gene, there can be different clinical subtypes with different ages of onset and severity, starting from infancy until adulthood,” Moufawad El Achkar told Fox News Digital.
“This can make diagnosis harder, especially in the early stages of the disease.”
Early diagnosis is very important, the doctor emphasized, especially because some types of disease can be slowed with therapies.
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Early symptoms of Batten include loss of balance, falls and slurring of speech.
Epilepsy or seizures can be an early sign in some subtypes, but might only happen later in some patients, said Moufawad El Achkar.
Gradual loss of vision is seen in almost all patients at some point in the disease.
“We try to keep him as educated as we can on his vision while still allowing him to be the same little boy he is now,” Naff’s mother told Fox News Digital. (Emily Blackburn)
“It is crucial to suspect and test for Batten disease in any child who has loss of skills, especially if accompanied by seizures, at any age,” the doctor said.
As her son’s vision had already declined considerably at the time of his diagnosis, it is now 20/200, which qualifies as legally blind, Blackburn shared.
Only his vision has been impacted so far, but doctors have warned Blackburn of what’s to come over the next couple of years — including dementia, decline in motor skills and seizures.
Grayson Naff will have an EEG (electroencephalography) each year to monitor his brain waves for seizure activity. (Emily Blackburn)
As of now, he only knows about his vision struggles — Blackburn has not told him about the Batten disease diagnosis.
“We try to keep him as educated as we can on his vision while still allowing him to be the same little boy he is now,” Blackburn told Fox News Digital.
“We feel like the weight of all the other symptoms is just too hard, too much for him to carry.”
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Naff still attends the same public school, where he works with a teacher for the visually impaired.
“We have amazing teachers and amazing friends in our community,” Blackburn said.
Multidisciplinary care
Patients affected by Batten disease need a multidisciplinary team to help manage their symptoms and design a plan to provide the best quality of life possible, Moufawad El Achkar noted.
Naff’s primary care team is at Nationwide Children’s Hospital in Columbus, Ohio.
Twice a year, the family drives to the University of Iowa Hospitals & Clinics to see an eye doctor, who prescribes an experimental medicine to help preserve Naff’s vision for as long as possible.
Twice a year, the family drives to the University of Iowa Hospitals & Clinics to see an eye doctor, who prescribes an experimental medicine to help preserve Naff’s vision for as long as possible. (Emily Blackburn)
They also travel to Texas Children’s Hospital in Houston to see a neurologist.
Naff will have an EEG (electroencephalography) each year to monitor his brain waves for seizure activity.
He is currently taking a medication called Miglustat, which could help to ease or slow down symptoms. Although the drug is FDA-approved for another condition called Gaucher disease, it is not yet approved for Batten.
“Since it’s not FDA approved, it has a hefty copay cost — if insurance doesn’t cover it, it’s about $100 a pill, or $9,000 a month,” Blackburn said.
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Through an initiative called Guiding Grayson, the family has held events to help raise money for Naff’s costly care.
“Having the support from our community and our friends has been one of the best things to come out of this,” said Blackburn.
All the funds raised for Naff have gone toward the cost of the Miglustat.
“We feel like the weight of all the other symptoms is just too hard, too much for him to carry.”
Blackburn has quit her job as a project manager so she can dedicate her time to taking care of Naff and her younger son.
“There are a lot of unknowns and a lot of scary things, but we hope that the medication can hold off Grayson’s symptoms for as long as possible until there’s a cure,” she added.
Clinging to hope
Because each gene involved in the various types of Batten disease has a different mechanism, finding treatment for each one has been a very difficult process, noted Moufawad El Achkar.
“There have been some oral medications that over time might have shown some delay in the progression of the disease, but none have been shown to affect the course of the disease,” she said.
Through an initiative called Guiding Grayson, the family has held fundraising events to help collect money for Naff’s costly care. (Emily Blackburn)
A drug called Cerliponase Alpha has been shown to significantly slow down symptoms of Batten disease type 2, noted Moufawad El Achkar.
Gene therapies have also been developed for some types and are in early clinical trial stages, but have not yet been administered in the U.S.
Emily Blackburn is pictured with her family. Grayson Naff, center, is now legally blind due to his Batten disease. (Emily Blackburn)
“Research is ongoing to look for therapies for virtually all of the subtypes, but most are at the pre-clinical stage at this time,” said Moufawad El Achkar.
“A lot of strides have been made, but we need a lot more treatment options to be developed, tailored to each subtype, and we need them as soon as possible.”
“Collaboration between scientists, medical teams and family associations all over the world is absolutely necessary to make any meaningful progress in treating these extremely rare disorders,” the doctor added.
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Blackburn said she is holding out hope for a cure in her son’s lifetime.
“Scientists are working tirelessly to try to find a cure for this disease,” she said. “It just takes a while for gene therapy to be approved, so that’s what is scary.”
“One of our main goals is to raise awareness for research and funds for a cure — and just to let Grayson know how much we love him.”
“Some days, I’m really hopeful and I feel like Grayson can beat this, and then some days it’s just debilitating and gut-wrenching — it feels like we’re in a nightmare,” Blackburn went on.
“One of our main goals is to raise awareness for research and to raise funds for a cure — and just to let Grayson know how much we love him.”
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Collagen supplements have exploded in popularity, touted as everything from an anti-aging miracle to a muscle recovery booster.
But a sweeping new review conducted by U.K. researchers suggests that while collagen may help improve skin elasticity and ease arthritis pain, it does little for athletic performance or wrinkle reduction.
Researchers from Anglia Ruskin University analyzed 16 systematic reviews and 113 randomized controlled trials involving nearly 8,000 participants worldwide, which they say is the most extensive evaluation of collagen’s health effects to date.
The review found consistent evidence that collagen supplementation improves skin elasticity and hydration over time and provides significant relief from osteoarthritis-related joint pain and stiffness, according to findings published in Aesthetic Surgery Journal Open Forum.
A large U.K. review found that collagen supplements may improve skin elasticity and hydration over time. (iStock)
The researchers, however, did not find meaningful improvements in post-exercise muscle recovery, soreness or tendon mechanical properties (strength, springiness and stretch resistance).
“Collagen is not a cure-all, but it does have credible benefits when used consistently over time, particularly for skin and osteoarthritis,” co-author Lee Smith, professor of public health at Anglia Ruskin University, said in a statement.
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“Our findings show clear benefits in key areas of healthy aging, while also dispelling some of the myths surrounding its use,” Smith added.
Collagen, the most abundant protein in the body, supports skin, bones, tendons, cartilage and connective tissue, according to experts. Natural collagen production begins to drop in early adulthood and declines more sharply with age.
The study found that collagen supplements may help reduce joint pain and stiffness in people with osteoarthritis. (iStock)
The review found that long-term collagen supplementation was linked to improved skin firmness and hydration, but did not help skin roughness — a proxy for visible wrinkles.
Benefits appear to accumulate gradually, suggesting that collagen should not be viewed as an “anti-wrinkle ‘quick fix,’ but as a foundational dermal support for individuals seeking holistic skin maintenance,” the researchers said.
“If we define anti-aging as a product or technique designed to prevent the appearance of getting older, then I believe our findings do support this claim for some parameters,” Smith told the BBC. “For example, an improvement in skin tone and moisture is associated with a more youthful-looking appearance.”
Collagen supplementation was linked to reduced pain and stiffness in people with osteoarthritis, with stronger benefits seen over longer periods of use, and showed modest improvements in muscle mass and tendon structure that may support healthy aging.
Collagen did not significantly improve skin roughness, a marker of visible wrinkles. (iStock)
However, it did not show meaningful results when used as a fast-acting sports performance supplement, and evidence for benefits related to cholesterol, blood sugar, blood pressure and oral health was mixed or inconclusive.
Dr. Daniel Ghiyam, a California-based physician and longevity specialist, said the findings align with what he sees in clinical practice.
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“Collagen is a targeted support tool, not a foundation of health or performance,” Ghiyam, who was not involved in the study, told Fox News Digital. “When marketed that way, it makes sense. When marketed as a cure-all, it doesn’t hold up to the data.”
The authors noted that while many previous collagen studies have received financial support from the supplement industry, the current review did not receive industry funding.
Experts say collagen supplements may offer modest benefits for skin hydration and joint comfort, but they are not a cure-all. (iStock)
The team called for more high-quality clinical trials examining long-term outcomes, optimal dosages and differences between collagen sources, such as marine, bovine and plant-based alternatives.
Among its limitations, the review could not determine whether certain forms of collagen work better than others or what the optimal regimen should be.
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While the review included randomized controlled trials, the quality of the studies varied, with newer research generally showing stronger results.
Experts say more data and studies are needed to build on the findings. They also noted that diet plays a crucial role in skin health.
Collagen supplements, often sold as powders or pills, may improve skin elasticity and ease joint pain, experts say. (iStock)
Dr. Erum Ilyas, a Pennsylvania-based dermatologist and chair of dermatology at Drexel University College of Medicine, noted that the review analyzed previously published meta-analyses rather than generating new primary data.
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“At this time, I have not seen sufficiently strong independent evidence to routinely recommend collagen supplements to my patients,” Ilyas, who was not involved in the review, told Fox News Digital.
“Although some studies show modest improvements in markers such as hydration and elasticity, there remains limited independent, biopsy-confirmed evidence demonstrating sustained increases in dermal collagen content,” she added.
Fox News Digital has reached out to the researchers for comment.
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As colorectal cancer (CRC) is now the leading cause of cancer death in adults under 50, a new report reveals some surprising shifts in the incidence of the disease.
Although rates of CRC have been declining among seniors, those 65 and under are facing a rise in diagnoses, according to a report titled Colorectal Cancer Statistics, 2026, from the American Cancer Society.
Adults 65 and younger comprise nearly half (45%) of all new colorectal cancer cases — a significant increase from 27% in 1995, states the report, which was published in CA: A Cancer Journal for Clinicians.
The disease is rising fastest among adults 20 to 49 years old, at a rate of 3% per year.
Colorectal cancer is now the leading cause of cancer death in adults under 50. (iStock)
Among adults 50 and under, 75% of colorectal cancers are diagnosed at an advanced stage. Half of the diagnoses in that age range are made between the ages of 45 and 49. Although that age group is eligible to receive routine screenings, just 37% do so.
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The report also revealed that rectal cancer is on the rise, now accounting for about one-third (32%) of all CRC cases — an increase from 27% in the mid-2000s.
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“After decades of progress, the risk of dying from colorectal cancer is climbing in younger generations of men and women, confirming a real uptick in disease because of something we’re doing or some other exposure,” said Rebecca Siegel, senior scientific director, surveillance research at the American Cancer Society and lead author of the report, in a press release.
Among adults 50 and under, 75% of colorectal cancers are diagnosed at an advanced stage. Half of the diagnoses in that age range are made between the ages of 45 and 49. (iStock)
“We need to redouble research efforts to understand the cause, but also circumvent deaths through earlier detection by educating clinicians and the general public about symptoms and increasing screening in people 45-54 years.”
It is projected that 158,850 new cases of colorectal cancer will be diagnosed this year, and that the disease will cause 55,230 deaths, per the report.
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More than half of CRC cases can be linked to high-risk behaviors, the researchers said. Those include lack of nutrition, high alcohol consumption, smoking, lack of exercise and obesity.
“These findings further underscore that colorectal cancer is worsening among younger generations and highlight the immediate need for eligible adults to begin screening at the recommended age of 45,” said Dr. William Dahut, chief scientific officer at the American Cancer Society.
When the disease is caught at a local (early) stage, the five-year survival rate is 95%. (iStock)
“The report also shines a light on the crucial importance of continued funding for research to help discover new therapies to treat the disease and advance patient care.”
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When the disease is caught at a local (early) stage, the five-year survival rate is 95%, the report stated.
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A new study suggests that middle-aged men may be more vulnerable to faster biological aging, potentially linked to exposure to “forever chemicals.”
The research, published in the journal Frontiers in Aging, examined how perfluoroalkyl and polyfluoroalkyl substances, more commonly known as PFAS, could impact aging at the cellular level.
PFAS are synthetic chemicals commonly used in nonstick cookware, food packaging, water-resistant fabrics and other consumer products, the study noted.
Their chemical structure makes them highly resistant to breaking down, allowing them to accumulate in water, soil and the human body.
Chinese researchers analyzed blood samples from 326 adults enrolled in the U.S. National Health and Nutrition Examination Survey between 1999 and 2000.
A new study suggests that middle-aged men could face accelerated biological aging at the cellular level due to exposure to PFAS. (iStock)
The researchers measured levels of 11 PFAS compounds in participants’ blood and used DNA-based “epigenetic clocks” — tools that analyze chemical changes to DNA to estimate biological age — to determine how quickly their bodies were aging at the cellular level, the study stated.
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Two compounds, perfluorononanoic acid (PFNA) and perfluorooctanesulfonamide (PFOSA), were detected in 95% of participants.
Higher concentrations of those chemicals were associated with faster biological aging in men of certain age groups, but not in women.
“People should not panic.”
The compounds most strongly linked to accelerated aging were not the PFAS chemicals that typically receive the most public attention, the researchers noted.
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“The associations were strongest in adults aged 50 to 64, particularly in men,” Dr. Xiangwei Li, professor at Shanghai Jiao Tong University School of Medicine and the study’s corresponding author, told Fox News Digital.
“While this does not establish that PFAS cause aging, it suggests that these widely present ‘forever chemicals’ may be linked to molecular changes related to long-term health and aging.”
The study found that two of the compounds were detected in 95% of participants, and higher levels were linked to faster biological aging in men ages 50–64. (iStock)
Midlife may represent a more sensitive biological period, when the body becomes more vulnerable to age-related stressors, according to the researchers.
Lifestyle factors, such as smoking, may influence biological aging markers, potentially increasing vulnerability to environmental pollutants.
While Li said “people should not panic,” she does recommend looking for reasonable ways to reduce exposure.
That might mean checking local drinking water reports, using certified water filters designed to reduce PFAS, and limiting the use of stain- or grease-resistant products when alternatives are available.
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Meaningful reductions in PFAS exposure will likely depend on broader regulatory action and environmental cleanup efforts, Li added.
The researchers noted that midlife could be a particularly sensitive stage, when the body is more susceptible to stressors associated with aging. (iStock)
Study limitations
The researchers outlined several important limitations of the research, including that the findings show an association, but do not prove that PFAS directly causes accelerated aging.
“The study is cross-sectional, meaning exposure and aging markers were measured at the same time, so we cannot determine causality,” Li told Fox News Digital.
The study was also relatively small, limited to 326 adults age 50 or older, which means the findings may not apply to younger people or broader populations.
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Researchers measured PFAS levels using data collected between 1999 and 2000, and today’s exposure patterns may differ.
Li added that while PFAS is known to persist in the environment and the body, these results should be validated through larger, more recent studies that follow participants over time.
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