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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Those at risk of type 2 diabetes may be able to prevent heart problems later.
A new study published in The Lancet Diabetes & Endocrinology discovered that lowering the blood sugar of those with prediabetes could reduce the risk of heart attack by half.
Diabetes researchers and endocrine experts across Europe, China and the U.S. investigated how bringing blood sugar back to normal levels affected the chances of heart problems later in life, based on a 20-year American study and a 30-year Chinese study, according to a press release.
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In both studies, the prediabetic participants were coached to make appropriate lifestyle changes to lower blood sugar (the amount of glucose in the bloodstream) through diet and exercise, also targeting weight loss.
Participants worked to lower blood sugar through diet and exercise targeted at weight loss. (iStock)
The researchers split the participants into a remission group (where blood sugar returned to normal) and a non-remission group, which included those still in the prediabetes range. They then determined who in these groups had died from heart disease or were hospitalized for heart failure.
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Participants who went into remission had a 58% lower risk of dying from heart disease and being hospitalized for heart failure. This group also had a lower risk of other major heart events and lower overall death rates.
These heart-protective benefits lasted for decades after the program ended, the researchers found.
Those in prediabetes remission had their risk of a heart event reduced by more than half. (iStock)
“Reaching prediabetes remission is linked to a decades-long benefit, halving the risk of cardiovascular death or hospitalization for heart failure in diverse populations,” the researchers commented in the publication of the study. “Targeting remission might represent a new approach to cardiovascular prevention.”
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In an interview with Fox News Digital, Dr. Andreas Birkenfeld, study co-author and professor of medicine at the University Hospital Tübingen in Germany, reiterated that reaching prediabetes remission is not only relevant for reducing the progression of type 2 diabetes, but may also be associated with a “meaningful reduction in… heart attack risk, cardiac death and heart failure.”
“Importantly, this underscores that prediabetes is a modifiable stage where timely, evidence-based interventions (especially lifestyle measures, and in selected cases, medication) can make a real difference,” he added.
“Reaching prediabetes remission is linked to a decades-long benefit, halving the risk of cardiovascular death or hospitalization for heart failure in diverse populations,” the researchers commented. (iStock)
The study did have some limitations, including that it is based on analysis of trials not originally designed to measure cardiovascular outcomes, which means the results show association but cannot prove causation.
In addition, unmeasured lifestyle and health factors, population differences and lack of randomization for heart outcomes may have influenced the reduced cardiovascular risk, the researchers acknowledged.
“This underscores that prediabetes is a modifiable stage where timely, evidence-based interventions … can make a real difference.”
Birkenfeld suggested that those with prediabetes should ask their doctors the following questions: “What is my current status? What is my personal cardiovascular risk? What is my target blood glucose level?”
Patients should also inquire about the frequency of testing for blood sugar and key risk factors like blood pressure, cholesterol and other related conditions, such as kidney function or sleep apnea, he advised.
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“If lifestyle changes aren’t enough or my risk is high, would medication be appropriate for me — and what are the benefits and downsides?” the researcher asked as an example.
About 98 million American adults, more than one in three, have prediabetes, according to CDC data. Eight in 10 of these adults are unaware that they have the disease.
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One of the most widely known risks linked to the COVID-19 vaccine is myocarditis, especially in young males — and now a new Stanford study has shed some light on why this rare effect can occur.
Myocarditis, which is inflammation of the heart, occurs in about one in 140,000 people who receive the first dose of the vaccine and one in 32,000 after the second dose, according to a Stanford press release. Among males 30 and younger, that rises to one in 16,750.
Symptoms of the condition include chest pain, shortness of breath, fever and palpitations, which can occur just one to three days after vaccination. Another marker is heightened levels of cardiac troponin, which indicates that the heart muscle has been damaged.
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In most cases, people who experience myocarditis recover quickly and restore full heart function, according to study author Joseph Wu, MD, PhD, the director of the Stanford Cardiovascular Institute and a professor of medicine and radiology.
One of the most widely known risks linked to the COVID-19 vaccine is myocarditis, especially in young males. (iStock)
“It’s not a heart attack in the traditional sense,” Wu told Fox News Digital. “There’s no blockage of blood vessels as found in most common heart attacks. When symptoms are mild and the inflammation hasn’t caused structural damage to the heart, we just observe these patients to make sure they recover.”
In rare cases, however, severe heart inflammation can lead to hospitalizations, critical illness or death, Wu noted.
Finding the cause
The new Stanford study — conducted in collaboration with The Ohio State University — aimed to determine the reasons for the myocarditis. The research team analyzed blood samples from vaccinated people, some with myocarditis and some without.
They found that those with myocarditis had two proteins in their blood, CXCL10 and IFN-gamma, which are released by immune cells. Those proteins then activate more inflammation.
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“We think these two are the major drivers of myocarditis,” said Wu. “Your body needs these cytokines to ward off viruses. It’s essential to immune response, but can become toxic in large amounts.”
In mouse and heart tissue models, high levels of these proteins led to signs of heart irritation, similar to mild myocarditis.
Prevention mechanism
“One of the most striking findings was how much we could reduce heart damage in our models by specifically blocking these two cytokines, without shutting down the entire (desired) immune response to the vaccine,” Wu told Fox News Digital, noting that a targeted, “fine‑tuning” immune approach might be enough to protect the heart.
Myocarditis, which is inflammation of the heart, occurs in about one in 140,000 people who receive the first dose of the vaccine and one in 32,000 after the second dose. (iStock)
“This points to a possible future way to prevent or treat myocarditis in people who are at the highest risk, while keeping the benefits of vaccination,” he added.
The team also found that genistein, an estrogen-like natural compound found in soybeans, reduced inflammation in lab tests, but this has not yet been tested in humans.
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The findings were published in the journal Science Translational Medicine.
“This is a very complex study,” Fox News senior medical analyst Dr. Marc Siegel told Fox News Digital. “Myocarditis is very rare, and the immune mechanism makes sense.”
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“Myocarditis is worse with COVID — much more common, and generally much more severe.”
Wu agreed, adding that COVID infection is about 10 times more likely to cause myocarditis compared to mRNA-based vaccines.
‘Crucial tool’
The researchers emphasized that COVID-19 vaccines have been “heavily scrutinized” for safety and have been shown to have an “excellent safety record.”
In rare cases, however, severe heart inflammation can lead to hospitalizations, critical illness or death. (iStock)
“mRNA vaccines remain a crucial tool against COVID‑19, and this research helps explain a rare side effect and suggests ways to make future vaccines even safer, rather than a reason to avoid vaccination,” Wu said.
“The overall benefits of COVID‑19 vaccination still clearly outweigh the small risk of myocarditis for nearly all groups.”
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The study did have some limitations, primarily the fact that most of the data came from experimental systems (mice and human cells in the lab), which cannot fully capture how myocarditis develops and resolves in real patients, according to Wu.
“This points to a possible future way to prevent or treat myocarditis in people who are at the highest risk.”
“These findings do not change what people should do right now, because our work is still at the preclinical (mouse and human cells) stage,” he said. “Clinical studies will be needed to confirm whether targeted treatments are safe and effective.”
The researcher also added that myocarditis risk could rise with other types of vaccines.
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“Other vaccines can cause myocarditis and inflammatory problems, but the symptoms tend to be more diffuse,” he said in the release. “Plus, mRNA-based COVID-19 vaccines’ risks have received intense public scrutiny and media coverage. If you get chest pains from a COVID vaccine, you go to the hospital to get checked out, and if the serum troponin is positive, then you get diagnosed with myocarditis. If you get achy muscles or joints from a flu vaccine, you just blow it off.”
The study was funded by the National Institutes of Health and the Gootter-Jensen Foundation.
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