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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Weight management is often treated as a “middle-age” problem, but new research suggests that the pounds you pack on in your 20s may be the most dangerous of your life.
A massive study of more than 620,000 individuals found that the damage from early weight gain is disproportionately high and surprisingly permanent. According to the findings, the younger someone is when obesity sets in, the higher the risk of early mortality.
The study, published in the journal eClinicalMedicine, analyzed data from the Obesity and Disease Development Sweden project.
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“The most consistent finding is that weight gain at a younger age is linked to a higher risk of premature death later in life, compared with people who gain less weight,” Tanja Stocks, a professor at Lund University and one of the researchers behind the study, said in a press release.
New research suggests that the pounds you pack on in your 20s may be the most dangerous of your life. (iStock)
Developing obesity between the ages of 17 and 29 was linked to a 70% higher risk of early death compared to weight gain later in life.
Weight gain later in adulthood, between ages 30 and 60, was also linked to higher death rates, but the connections were generally weaker.
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“One possible explanation for why people with early obesity onset are at greater risk is their longer period exposed to the biological effects of excess weight,” Huyen Le, a doctoral student at Lund University and first author of the study, said in the release.
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When weight gain happens in the 20s, the blood vessels, liver and metabolic systems endure obesity-related strain for decades longer than someone who gains the same weight in their 50s, experts say.
Weight gain later in adulthood, between ages 30 and 60, was also linked to higher death rates, but the connections were generally weaker. (iStock)
The study identified type 2 diabetes as the leading cause of death associated with early-onset obesity. Other significant risks included high-blood pressure, liver cancer in men and uterine cancer in women.
To reach these conclusions, researchers tracked participants’ weight paths across adulthood over more than 50 years, focusing on three specific windows: ages 17 to 29, 30 to 44, and 45 to 60.
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Using a body mass index (BMI) of 30 or higher to define obesity, the team compared weight data against Sweden’s national death registry.
After adjusting for a variety of factors, including smoking habits and marital status, the trend showed that becoming obese later in life still carried risks, but the danger compounded the longer people stayed obese.
While type 2 diabetes is the leading risk, early-onset obesity is also tied to higher rates of high-blood pressure and specific cancers. (iStock)
While these findings highlight the “importance of early and sustained obesity prevention strategies,” the researchers noted that other factors come into play, and that increases in risk within a population can be difficult to interpret.
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“We shouldn’t get too hung up on exact risk figures,” Stocks said.
“They are rarely entirely accurate, as they are influenced, for example, by the factors taken into account in the study and the accuracy with which both risk factors and outcomes have been measured.”
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Because the study was conducted in Sweden, more research is needed to understand the effect of early-onset obesity in other populations, the team noted.
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In a sweeping analysis of more than 400,000 Reddit posts, researchers have revealed some little-known GLP-1 side effects.
GLP-1 receptor agonists — such as semaglutide (Ozempic and Wegovy), and tirzepatide (Mounjaro and Zepbound) — have been most commonly associated with gastrointestinal side effects, such as nausea, vomiting, diarrhea and constipation.
A new study published in Nature Health, however, uncovered some overlooked effects.
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University of Pennsylvania researchers used artificial intelligence to analyze more than five years of Reddit posts from more than 67,000 people taking the popular drugs for diabetes or weight loss.
While clinical trials are still the “gold standard,” the researchers noted that Reddit community feedback reflects a different population.
GLP-1 receptor agonists — such as semaglutide (Ozempic and Wegovy), and tirzepatide (Mounjaro and Zepbound) — have been most commonly associated with gastrointestinal side effects, such as nausea, vomiting, diarrhea and constipation. (iStock)
“People often use medications differently than they’re prescribed, so it’s also important to look at real-world usage, which can diverge from usage in a clinical trial,” lead researcher Neil Sehgal, a PhD student at the University of Pennsylvania, told Fox News Digital. “So there are many possible reasons we’re seeing signals that the trials may have missed.”
Overlooked effects
Nearly half of the users reported one or more side effects. The most common were nausea, vomiting and constipation, which aligned with what clinical trials found, according to Sehgal.
“We’re almost certainly capturing a skewed slice of the full picture.”
“We did notice a few side effects that have not previously been reported for these drugs,” he told Fox News Digital.
“For example, about 4% of users who described side effects reported menstrual irregularities. Other Redditors described unusual temperature-related symptoms, like chills or hot flashes.”
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Nearly 13% of users also experienced psychiatric symptoms, such as anxiety, depression and insomnia. More than 5% also complained of abdominal pain, acid reflux, headache and dizziness.
“Fatigue was also the second most commonly reported symptom overall, but has met relatively few reporting thresholds in existing trials,” Seghal noted. “This gap between what patients are self-reporting online and what gets captured in trials is really what motivated this whole line of work.”
Clinical context
Dr. Sue Decotiis, a New York City-based board-certified weight-loss physician, noted that many of the reported symptoms, such as disorientation and fatigue, are most likely due to dehydration and hypoglycemia (low blood sugar).
“People often use medications differently than they’re prescribed, so it’s also important to look at real-world usage, which can diverge from usage in a clinical trial,” the lead researcher said. (iStock)
“Patients should be carefully monitored using a structured protocol that ensures proper nutrition and adequate hydration, ideally under the direct supervision of a physician experienced in metabolism and weight loss,” Decotiis, who was not involved in the study, told Fox News Digital.
“Additionally, body composition analysis can help identify issues such as muscle loss, excessive water loss or insufficient fat loss.”
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A significant concern, according to the doctor, is that many individuals are accessing these medications through online platforms or without receiving appropriate medical care.
“In my experience treating thousands of patients with various GLP-1 medications, complications are rare and typically occur only when patients are noncompliant,” she added.
Study limitations
As the data came from Reddit users, who tend to be younger, primarily male and mostly based in the U.S., it may not represent everyone taking these medications, the researchers noted.
“In my experience treating thousands of patients with various GLP-1 medications, complications are rare and typically occur only when patients are noncompliant,” a weight-loss doctor shared. (iStock)
“And even within Reddit, the people who post about their side effects are probably not typical of everyone on the medication,” Sehgal said. “If you had a good experience, you’re less likely to be writing about it online. So we’re almost certainly capturing a skewed slice of the full picture.”
The researchers also noted that the study can’t prove the drug caused the reported symptoms.
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“To be clear, we can’t say for certain whether these drugs are causing menstrual irregularities,” Sehgal said. “Patients on Reddit aren’t going to self-report every symptom they have, and they may also report things that aren’t actually linked to the medications. So it’s important to treat this as hypothesis-generating signals and do more research.”
The researchers noted that the study can’t prove the drug caused the reported symptoms. (iStock)
The study also didn’t include GLP-1 dosage, duration of the medication and symptoms, or other health conditions the users experienced. There is also the chance that the AI tools misunderstood meanings or context, the researchers noted.
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The results must be confirmed with more rigorous research, Sehgal said. “That’s how we’ll get real answers about prevalence and causality, which social media data alone can’t provide.”
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“These are signals, not conclusions – but I do think it’s always worth talking to your doctor about anything unexpected you’re experiencing while on a new medication, even if you’re not sure if it’s related,” he advised. “So if something feels off, say something.”
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