Latest news with #NicklausChildrensHospital
CBS News
16-06-2025
- Health
- CBS News
South Florida family navigates diagnosis similar to Alzheimer's in children — what every parent should know
A rare genetic disorder known as Sanfilippo syndrome, often called "Childhood Alzheimer's," is robbing a South Florida 9-year-old of her abilities and her future. The progressive brain disorder, which causes children to lose speech, mobility and memory, has no cure and families like Sara Ruiz Montoya's are left clinging to moments while advocating for awareness, early screening and research. When Carolina Montoya sees her daughter laughing on the trampoline or reading books, she holds onto those moments tightly. Sara's parents know each memory could be one of the last. A rare disease that mimics Alzheimer's in young children Sara was born full-term, but early signs, frequent infections, digestive issues and developmental delays raised questions. Her mother's persistence led to a diagnosis at Nicklaus Children's Hospital, where geneticist Dr. Parul Jayakar recognized the signs immediately. "It's related to a missing enzyme or a faulty enzyme," Dr. Jayakar explained. "And what happens is because this enzyme is missing, it doesn't break down certain substances." Carolina said, "Because it has kind of the same consequences in the body, so it was someone that develops normally for a few years of their life. So Sara was a regular 3-year-old, kind of, and suddenly they start forgetting everything and they start losing all the abilities." Sanfilippo syndrome is fatal. Carolina recalled hearing her daughter's prognosis: "If you read through all the MPSs, all of them are mortal diseases. 100% fatal. So she was almost 4, and in some of the MPSs, the life expectancy is until 6. So for me it was like, you're telling me that I have 2 years with my daughter?" Today, Sara's life expectancy is closer to 15 years, but her condition is worsening. "It's pretty obvious lately that she's coming to the last stage of her condition," Carolina said. "She used to be a girl that laughed from the moment that she woke up to the moment that she went to sleep. Now you see sometimes that she complains, or she's in pain, or she's calm." At night, Sara sleeps in a safety bed. Children with Sanfilippo tend to sleep less as their condition progresses. Despite it all, her parents are focused on the time they have left. "I say that their lives is like having trying to trying to grab water in your hand," her father Alejandro Ruiz said. "You could try as hard as you want and you can grasp as hard as you want, it's going to slip away anyway." "It's important to be aware of this condition" There is currently no cure or treatment and the condition is not part of newborn screenings. Clinical trials are rare, but two are underway, and Dr. Jayakar remains hopeful. "I think it's important to be aware of this condition because there are a lot of clinical trials available and soon I'm hoping there'll be a treatment by the end of this year," she said. For the Ruiz Montoya family, awareness is vital. "Even though there's nothing to do… we try to advocate," Alejandro said. "We still do any anything we can do to get a cure. Might not be for her, but so no one else has to go through this."
CBS News
02-06-2025
- General
- CBS News
Florida boy thrives after groundbreaking brain procedure at Nicklaus Children's Hospital
A young Florida boy who once struggled to move or even hug his mother due to a debilitating neurological disorder is now swimming, biking, and running, thanks to a treatment offered at one of the few pediatric hospitals in the nation providing the procedure. Nicklaus Children's Hospital in Miami is among the only pediatric facilities in the country performing deep brain stimulation (DBS) for children. The treatment has dramatically improved the life of 10-year-old Tamryn Hendon, whose family travels nearly 500 miles from Tallahassee to receive care. A dramatic turnaround "It was miraculous," said Tamryn's mother, Tamara Hendon. "Now he swims, he rides his bike, he runs. He could do whatever he did before the onset." Just over a year ago, Tamryn's life looked very different. He suffered from dystonia, a movement disorder that caused painful, involuntary muscle contractions. Tamryn said he could barely move and was unable to hug his mom. "He started falling backwards. He couldn't hold himself upright and he would just, his back would bend and he would fall over and it would be worse later in the day," Tamara recalled. "It was extremely scary because we didn't know, is this a life-threatening condition? Is it life-limiting?" From bedridden to biking "He quit laughing, he quit smiling and he talked about death," she continued. "He was just in a really dark place for a 10-year-old boy." After consulting doctors across the state, the Hendons met Dr. Migvis Monduy at Nicklaus Children's Hospital. "He was in a wheelchair and then ultimately continued to progress to the point that he was arching back constantly and twisting, and even sitting in a wheelchair became very, very uncomfortable for him, so he was mostly bedridden at that point," Dr. Monduy said. Testing revealed that Tamryn's dystonia was caused by a genetic mutation known to respond to deep brain stimulation. Dr. Monduy explained the procedure: "This (device) gets implanted typically under the skin in the chest area or perhaps in the abdomen. And then there are cables that are going to be connected to this. Those are the leads and those are going to be tunneled under the skin, through the neck area and then through the skull into the brain," she said. "They're going to go deep in the center of the brain, so sort of like one on each side for each half of the brain." The device delivers electrical impulses to regulate abnormal brain signals, often used to treat dystonia, Parkinson's disease, and epilepsy. A new normal "It was a really hard time, but now his cheerful self is back," Tamara said. It can take six months to a year to calibrate the device properly, and settings can be adjusted through an app. Tamryn and his family continue to make the long drive for checkups, but he now enjoys a typical childhood—riding his bike, drawing cartoons, and playing video games.
