Latest news with #Lafora
Newsweek
4 days ago
- Entertainment
- Newsweek
Man Helps Disabled Dog Play on the Beach—Has No Idea He's Being Watched
Based on facts, either observed and verified firsthand by the reporter, or reported and verified from knowledgeable sources. Newsweek AI is in beta. Translations may contain inaccuracies—please refer to the original content. A man and his dog were unwittingly being recorded as they played together at the beach, and have now been seen by millions of people. Jerry, from Vancouver in Canada, is the proud owner of 10-year-old Pembroke Welsh corgi, Pebbles. She is sadly living with rare neurological disease Lafora, a type of epilepsy, and degenerative myelopathy, which weakens the hind legs and eventually leads to paralysis. Before Pebbles' diagnoses, Jerry told Newsweek he would take her to the beach "every day in summer"—but now Pebbles' back legs don't work very well, and the salt water affects her seizure medication, so they have to be careful. Recently, however, Jerry decided that it was time for Pebbles to have a treat, as it had "been a while since she had a beach day." "So we took her to the beach and strapped on her life jacket, and I tried to replicate her favorite game, which was retrieving sticks I would throw far into the waves," Jerry said. From left: Jerry hugs and kisses Pebbles; and the corgi dog runs on the beach before she got sick. From left: Jerry hugs and kisses Pebbles; and the corgi dog runs on the beach before she got sick. TikTok/ Instagram @instapebs "No matter how big the waves were, she would always try to get it. Now, I can only use a rope tied to her life-vest to help her get in and out of the sea," Jerry said. "It's a lot of work getting her stroller down there, but it helps her remember her past, and she has a great time." Jerry and his family didn't know, however, that someone on the strand was recording him and Pebbles and shared it to TikTok, where it has been viewed more than 3.2 million times. Comedian Jeevin Gill, whose account @jgillcomedy is usually filled with clips of his stand-up routines, was so moved by what he saw that he recorded it and posted it with the words: "I saw this guy on the beach with a dog [whose] legs didn't work. This guy deserves every good thing to happen to him." In the clip, Jerry shows the stick to Pebbles and tosses it in the water, before carrying her into the sea to fetch it. He then lifts her back to the sand, where she gives him the stick, and he throws it again, starting the whole thing over. TikTok users were in pieces, awarding the video more than 577,000 likes, as one commenter wrote: "It's moments like that make me think there is actually some hope for us." "I was in a similar situation supporting my husky when his hind legs gave out. It's a lot of work I did not mind doing; it was the least we can do for our loved ones," another posted. "People always say we don't deserve dogs. He definitely does," a third said, while one commenter summed it up: "This proved you can't always change the world but you can change the world for one soul." And Jerry himself even commented on it, after a friend sent him the clip and alerted him that he was going viral. He thanked everyone for their supportive comments, explained the medical journey Pebbles is going through, and encouraged people to "come see the final chapter of her life at @instapebs on Instagram." Jerry, who also posts Pebbles to his TikTok account of the same username, said he and his family were "ecstatic to see so many people saw Jeevin's video." "My friend had sent it to me because it popped up on her TikTok feed; it only had a few hundred views when I first saw it," Jerry said. "The comments left on the video were super heartwarming. "As the video picked up traction, more and more comments poured in, then I started getting DMs from people all around the world, sharing their own stories about their dogs with debilitating diseases, and most just sent love our way. "What I would like people to know is that it's all appreciated. I'm just trying to give back to my dog who has given us so much joy our whole lives," Jerry said. Newsweek has contacted @jgillcomedy for comment on this story. Do you have funny and adorable videos or pictures of your pet you want to share? Send them to life@ with some details about your best friend and they could appear in our Pet of the Week lineup.
The Hindu
11-05-2025
- Health
- The Hindu
All you need to know about: Lafora disease
Lafora disease is a rare but serious disorder that significantly impacts the lives of those who have it. While there is currently no cure, research into potential treatments is ongoing. For now, managing the disease with medications, therapies, and supportive care is the best way to improve the quality of life for individuals with it, say studies. Given its rarity, it's important for both doctors and families to be aware of the signs and symptoms of Lafora disease. Early diagnosis can help with planning care and offering the right support, even though treatment options are limited. Here is all you need to know about Lafora disease: What is Lafora disease? Lafora disease is a rare and serious genetic disorder that affects the brain and nervous system. It belongs to a group of conditions known as progressive myoclonic epilepsies (PMEs). These diseases cause seizures, loss of motor skills, and mental decline. Lafora disease usually begins in adolescence, typically between the ages of 10 and 18, and worsens quickly, leading to a severe decline in quality of life. The disease is caused by the buildup of abnormal structures called Lafora bodies in the brain and other tissues, which interfere with normal brain function. It is said that the disease derives its name from Spanish neuropathologist Gonzalo Rodríguez Lafora, who first documented it in an adolescent patient who was experiencing progressive myoclonic epilepsy. What causes Lafora disease? Lafora disease is inherited in an autosomal recessive manner. This means that a person must inherit two faulty copies of a gene — one from each parent — to develop the disease. The main genes involved are EPM2A and NHLRC1 (ie EPM2B). These genes are responsible for making proteins that help manage glycogen, a type of sugar used by the body for energy. When either of these genes has a mutation, glycogen builds up in the form of Lafora bodies, which causes damage to cells in the brain. The EPM2A gene makes a protein called laforin, and the NHLRC1 gene makes a protein called malin. Both proteins are involved in regulating how glycogen is processed. When these proteins don't function properly, the glycogen that is meant to be used for energy accumulates in an abnormal form. This buildup harms neurons and causes the symptoms seen in Lafora disease. What are the symptoms of Lafora disease? The symptoms of Lafora disease usually start in adolescence and progress quickly. Seizures are often the first sign of the disease. These begin as myoclonic seizures, which cause sudden jerking movements of the muscles. Over time, the seizures become more severe, progressing into generalised tonic-clonic seizures, where the person loses consciousness and experiences violent muscle spasms. These seizures can significantly affect a person's ability to perform daily tasks and can be dangerous if not controlled. As the disease progresses, cognitive decline becomes more noticeable. People with Lafora disease often struggle with memory, learning, and concentration. They may find it difficult to keep up with their schoolwork, and social interactions can become increasingly challenging. In some cases, individuals may show personality changes, such as irritability, mood swings, and a lack of motivation. These cognitive and behavioural changes can be distressing for both the patient and their family members. Another common symptom is movement problems. A case report published in the Journal of Medical Case Reports by Naim Zeka et al. in 2022 highlights that as Lafora disease progresses, individuals often develop ataxia — a loss of coordination that severely affects their ability to control body movements. This can turn everyday activities like walking or eating into major challenges. Over time, the affected individual may lose the ability to walk independently and will require a wheelchair for mobility. Tremors are also common and can make it harder to perform tasks that require fine motor skills. In the later stages of Lafora disease, people often develop difficulty swallowing. This condition, known as dysphagia, can lead to choking and malnutrition because the person is unable to swallow food and liquids properly. Swallowing problems are also a risk factor for aspirationpneumonia, a serious lung infection that occurs when food or liquids are inhaled into the lungs instead of being swallowed. Additionally, many people with Lafora disease show psychiatric symptoms. These can include depression, anxiety, and mood disorders. As the disease progresses, irritability and aggression may become more pronounced. These symptoms can complicate the management of Lafora disease, as they may be mistaken for other mental health conditions, leading to misdiagnosis or delayed treatment. How is Lafora disease diagnosed? Diagnosing Lafora disease involves several steps. Doctors will usually start by looking at the patient's symptoms and family history. Since Lafora disease shares many symptoms with other types of epilepsy and neurological disorders, it can be hard to diagnose at first. To confirm the diagnosis, doctors may look for Lafora bodies in tissue samples. These can be obtained through a skin biopsy or, less commonly, post-mortem brain tissue. The presence of Lafora bodies helps confirm the disease. Genetic testing is the most reliable way to diagnose Lafora disease. It can identify mutations in the EPM2A or NHLRC1 genes, which cause the disease. Testing is particularly important because it can help rule out other conditions that cause similar symptoms. Can Lafora disease be treated? Currently, there is no cure for Lafora disease, and treatment mainly focuses on managing symptoms. According to a 2023 paper published in the Journal of Biosciences, Indian Academy of Sciences, 'Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts', by biologists Rashmi Parihar and Subramaniam Ganesh from Indian Institute of Technology, Kanpur, the current clinical management approaches consist of the administration of anti-epileptic medications, including valproic acid, phenobarbital, felbamate, and benzodiazepines, with the primary objective of reducing the intensity and occurrence rate of seizures. Other treatments, like physical therapy, speech therapy, and nutritional support, can help manage some symptoms and improve quality of life. However, they do not stop the disease from getting worse. Research into new treatments, including gene therapy and drugs that could prevent the buildup of Lafora bodies, is ongoing. While there is hope for future treatments, no breakthroughs have been made yet, and the disease remains challenging to manage. What is the prognosis for someone with Lafora disease? Lafora disease is progressive and usually fatal. Most people with Lafora disease die within 10 years of the first symptoms. The disease progresses quickly, and affected individuals often lose the ability to walk, speak, and take care of themselves. The age at which symptoms start and how quickly the disease progresses can vary from person to person. However, the outcome is generally the same: severe disability and eventual death. What is the situation of Lafora disease in India? Its prevalence in India is low, as is global incidence, though there is limited data on the exact number of cases. Due to its rarity, Lafora disease is often underdiagnosed or misdiagnosed, especially in rural areas where access to specialised genetic testing and healthcare may be limited. In India, there have been some reported cases, particularly in regions where consanguineous marriages (marriage between close relatives) are more common. Since Lafora disease is inherited in an autosomal recessive manner, consanguinity increases the likelihood of two carriers passing on the defective gene to their child, making these communities more susceptible to rare genetic disorders like Lafora disease. For example, some studies in Indian populations have indicated that genetic diseases related to epilepsy are more prevalent in certain regions due to this factor. Genetic counselling and early detection are crucial in such areas to reduce the risk of passing on genetic conditions. Efforts are underway to raise awareness among healthcare professionals so that early diagnosis and intervention can be provided, improving the quality of life for those affected.
