3 out of 100,000 children are born with Batten diseaseThis diagnosis is one of the most devastating that a family can undergo.
Emily Blackburn, 32, learned in March 2023 that her 7-year-old son, Grayson Knuff, had a rare, fatal genetic disease.
Now, an Ohio family faces the harsh reality that Nuff will eventually lose his eyesight, as well as his cognitive and motor skills.
The average life expectancy of children with batten disease It usually takes 5 to 6 years after symptoms start.
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Shortly before her son entered first grade, Blackburn took him to the eye doctor for what she thought was a routine vision test.
She thought he needed glasses because she was finding it more difficult for him to see the television screen.
Eight-year-old Grayson Nuff, pictured on the right, and his family were diagnosed with Batten disease in the spring of 2023. “I'm really at a loss for words,” his mother, Emily Blackburn, told FOX News Digital. (Emily Blackburn)
During the exam, doctors noticed something worrisome about Nuff's retina and sent the family to a retinal specialist in Cincinnati.
“Initially, they thought it was a disease called Stargardt, where you lose central vision and become legally blind,” Blackburn said in an interview on Fox News Digital.
That in itself was heartbreaking. “It was enough to send her into a spiral,” she said.But the situation became even worse when doctors decided to take some steps genetic testing To confirm the diagnosis.
Grayson Knuff was 7 years old when he was diagnosed with Batten disease. He still attends the same public school and is currently in his second year. (Emily Blackburn)
It turned out that the initial diagnosis was wrong. Then, with tears in their eyes, the geneticists told Blackburn during a Zoom call that her son did, in fact, have Batten disease.
“We went from thinking our son was going to be legally blind to finding out he has this deadly disease and there is no cure,” Ms Blackburn said. “I'm really at a loss for words. I can't believe it. It's soul-crushing.”
What is Batten disease?
Batten disease, a fatal genetic disease, interferes with the body's ability to remove cellular waste products, according to the Cleveland Clinic website.
When excess fat and protein accumulate, loss of visionseizures, cognitive decline, motor skills decline, and death.
There is currently no cure for this disorder.
“It's unbelievable. It's soul-crushing.”
Batten disease is usually diagnosed when an abnormal change is found in one of several genes associated with the disease, said Christel Mufawad El-Ashkar, M.D., a neurologist in the epilepsy and clinical neurophysiology department at Boston Children's Hospital. He pointed out that the diagnosis can be made through genetic testing.
There are 13 types of Batten disease, each involving a different gene. Mr. Nuff was diagnosed with CLN3.
Grayson Knuff is pictured with his brother. “Grayson is such a great big brother to Beckett,” Blackburn said. “They are best friends.” (Emily Blackburn)
“Within each gene, there can be different clinical subtypes that vary in age of onset and severity, from infancy to adulthood,” Mufawad El-Ashkar told Fox News Digital.
“This can make diagnosis difficult, especially in the early stages of the disease.”
Doctors stressed that early diagnosis is very important, especially since the progression of some types of the disease can be slowed down with treatment.
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Early symptoms of Batten include loss of balance, falls, and slurred speech.
While epilepsy and seizures may be early signs in some subtypes, they may only occur later in some patients, Moufawad El-Ashkar said.
Almost all patients experience gradual loss of vision at some point during the disease.
“We're trying to continue to educate him as much as possible about his vision while still allowing him to be the same little boy he is now,” Nuff's mother told Fox News Digital. (Emily Blackburn)
“It is extremely important to suspect and test for Batten disease at any age in children with loss of skills, especially if they are accompanied by seizures,” he said.
Blackburn said her son's vision had already deteriorated significantly at the time of his diagnosis and is now 20/200, which is considered legally blind.
So far, only his vision has been affected, but doctors have warned him of things to come in the coming years, including dementia, decreased mobility and seizures.
Dr. Grayson Knaff will undergo an EEG (electroencephalogram) every year to monitor his brain waves for seizure activity. (Emily Blackburn)
So far, all he knows is about the visual impairment, and Blackburn hasn't told him about the Batten disease diagnosis.
“We're trying to continue to educate him as much as possible about his vision while still allowing him to be the same little boy that he is,” Blackburn told FOX News Digital.
“We feel that the weight of all the other symptoms is too much for him to bear.”
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Naf still attends the same public school and works with a teacher for the visually impaired.
“We have great teachers and great friends in our community,” Blackburn said.
multidisciplinary care
For patients suffering from Batten disease, multidisciplinary team It will help you create a plan to manage your symptoms and provide the best quality of life possible, Mufawad El-Ashkar said.
Nuff's primary care team is located at Nationwide Children's Hospital in Columbus, Ohio.
Twice a year, the family drives to the University of Iowa Hospitals and Clinics to see an eye doctor. experimental medicine In order to preserve the vision of the nuff as long as possible.
Twice a year, the family drives to the University of Iowa Hospitals & Clinics to see an eye doctor. The ophthalmologist prescribes an experimental drug to keep Naf's eyesight as long as possible. (Emily Blackburn)
They also go to Texas Children's Hospital in Houston to see a neurologist.
Mr. Knaff will undergo an EEG (electroencephalogram) every year to monitor his brain waves for seizure activity.
He is currently taking a drug called Miglustat, which may ease or delay symptoms. The drug has been approved by the FDA for another disease called Gaucher disease, but not yet for Batten.
“Because it's not FDA-approved, the out-of-pocket costs are high. Without insurance, it costs about $100 per pill, or $9,000 a month,” Blackburn said.
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Through an initiative called Guiding Grayson, the family has been holding events to raise money for Naff's expensive treatment.
“Having the support from the community and friends was one of the best things that came out of this situation,” Blackburn said.
All funds raised for NAF went toward Miglustat's costs.
“We feel that the weight of all the other symptoms is too much for him to bear.”
Ms. Blackburn quit her job as a project manager to devote more time to caring for Naf and her second son.
“There are so many unknowns and so many scary things, but we hope that medications can help keep Grayson's symptoms at bay for as long as possible until a treatment is available,” she added.
cling to hope
Mufawad el-Ashkar points out that each gene involved in the different types of Batten disease has a different mechanism, making finding a treatment for each a very difficult process.
“Some oral medications have been shown to slow the progression of the disease somewhat over time, but they have not been shown to affect the course of the disease,” she said. .
Through an initiative called Guiding Grayson, the family has been holding fundraising events to raise money for Naf's expensive treatment. (Emily Blackburn)
A drug called cerliponase alfa has been shown to significantly slow down the symptoms of Batten disease type 2, Moufawad El-Ashkar pointed out.
Gene therapy has also been developed for several types of Early clinical trials in stages, but not yet administered in the U.S.
Emily Blackburn is pictured with her family. Grayson Knuff (center) is now legally blind due to Batten disease. (Emily Blackburn)
“Research is underway to find treatments for virtually all subtypes, but most are currently in the preclinical stage,” Mufawad El-Ashkar said.
“While much progress has been made, we need to develop more treatment options tailored to each subtype, and we need them as soon as possible.”
“The collaboration of scientists, medical teams, and family groups around the world is absolutely necessary to make meaningful progress in treating these extremely rare diseases,” the doctor added.
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Blackburn said she remains hopeful that her son will be able to receive treatment while he is still alive.
“Scientists are working hard to find a cure for this disease,” she said. “It takes a long time for gene therapy to be approved, so that's what's scary.”
“One of our main goals is to raise awareness for funding for research and treatment, and to let everyone know how much we love Grayson.”
“Some days I'm really hopeful and feel like Grayson can overcome this, but other days I just feel weak and gutted. It's like I'm in a nightmare. It’s a feeling,” Blackburn continued.
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“One of our main goals is to raise awareness for research, raise funds for treatment, and to let everyone know how much we love Grayson.”
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