Latest news with #neurodegenerative disorder
Daily Mail
2 days ago
- Health
- Daily Mail
My baby girl was slightly stiff. Now she's been given just years to live after a devastating diagnosis
A new mom has shared her heartbreak after a subtle symptom in her newborn ended up leading to a horrific diagnosis that has now left her baby with only 10 years to live. Kaitlin Norton, 29, and Gerard Norton, 32, from Massapequa, New York, were enjoying the bliss of new parenthood after welcoming their daughter, Madeline, in December. But the joy of being first-time parents was quickly turned into fear and devastation when their 'completely normal' newborn was diagnosed with an extremely rare neurodegenerative disorder six months after her birth. There was only one warning sign that something was wrong, and it's something that could be easily overlooked by many parents: the youngster was a little stiff. 'She was holding her head up within a week. She wasn't the type of newborn to just cuddle up in your arms. It was also difficult to dress her,' Kaitlin shared exclusively with the Daily Mail. 'We noticed that she always held her arms close to her chest and it was hard to pull them out. But she was completely normal other than the stiffness.' Kaitlin explained that while it didn't seem like a big deal at first, her 'gut' told her that something was wrong, so she brought Madeline in to her pediatrician. Kaitlin Norton, 29, and Gerard Norton, 32, from Massapequa, New York, were enjoying the bliss of new parenthood after welcoming their daughter, Madeline, in December But the joy of being first-time parents quickly turned into devastation when their newborn was diagnosed with an extremely rare neurodegenerative disorder six months after her birth The doctor didn't seem too concerned, but he recommended they go see a neurologist to be sure there was nothing to worry about. The neurologist conducted full genetic testing. That is when the devastating news came in: Madeline had Pantothenate Kinase-Associated Neurodegeneration (PKAN), which is a rare genetic disorder that affects fewer than one in one million children. It causes dystonia (involuntary muscle contractions), significant speech disturbances, dementia, visual impairment and seizures among other things. They were told Madeline likely only had 10 to 15 years to live, and that while her early years may be normal, she will lose her motor functions, speech and ability to walk as she ages. 'It is a genetic mutation that causes an iron build up in her brain over childhood,' Kaitlin explained. 'Due to the iron in her brain, she'll experience a regression in motor skills. She will have dystonia and eventually require the use of a wheelchair and feeding tube... 'We truly only thought she had hypertonia and that physical therapy would help. We were completely blindsided when we received the results.' As expected, Kaitlin said they were 'devastated' over the fatal diagnosis. There was only one warning sign that something was wrong, and it's something that could be easily overlooked by many parents: the youngster was a little stiff Madeline has Pantothenate Kinase-Associated Neurodegeneration (PKAN), which is a rare genetic disorder that affects fewer than one in one million children They were told that Madeline likely only has 10 to 15 years to live, and that while her early years may be normal, she will lose her motor functions, speech and ability to walk as she ages She called that day 'a blur'. 'We couldn't believe we received this diagnosis as we hadn't heard about that disease before,' she said. 'We were devastated. Initially we were in shock. We slowly told our family and friends the news - it was world stopping. 'We spent the next two days as a family just processing the news, then the few weeks after lost in grief.' While Madeline's condition is not curable, Kaitlin explained there is a foundation currently raising money to fund gene therapy research to look for a cure. They have now started a GoFundMe to help contribute to the foundation, where they have brought in over $43,000. 'We are optimistic but also realistic. We are doing everything we can to find a cure for our daughter,' Kaitlin concluded. 'Our goal is to spread awareness and raise funds for the gene therapy. We will do anything for our precious baby.'
Yahoo
06-08-2025
- Health
- Yahoo
They Noticed Their Baby Was Stiffer Than Most Newborns. Months Later, She Was Given 10 Years to Live (Exclusive)
At only 6 months, Gerard and Kaitlin Norton's daughter Madeline was diagnosed with PKAN, a rare neurodegenerative disorderNEED TO KNOW Gerard and Kaitlin Norton's 6-month-old daughter Madeline was diagnosed with PKAN, a rare neurodegenerative disorder Stunned by the heartbreaking news, the parents tell PEOPLE they launched a GoFundMe to raise money for clinical gene therapy trials — amassing over $30,000 in less than two weeks 'The community around us has been amazing," Kaitlin shares with PEOPLEJune was like any other month for blissful new parents, Gerard and Kaitlin Norton, whose daughter Madeline had just reached 6 months. 'We were coming home from the pediatrician, I pulled into the driveway, and I just remember thinking I had it all,' Gerard tells PEOPLE. 'I'm winning life. I've got the baby, the wife, the house, the white picket fence, two dogs — I've got it all. I'm the luckiest guy in the world.' Several months earlier, Kaitlin had noticed that their newborn was a bit stiffer than a typical baby, and they brought her into the pediatrician's office to get her checked out. The pediatrician wasn't concerned but recommended they see a neurologist, who had the parents conduct full genetic testing out of an abundance of caution. 'We didn't think anything of it,' remembers Kaitlin. 'The last thing on my mind was that something genetically was going to be wrong.' But on June 12, the new parents received a heartbreaking call: Madeline had been diagnosed with PKAN, an extremely rare neurodegenerative disorder, and they were both carriers. Their daughter likely only had 10 years to live. 'The next two days were a blur,' says Kaitlin. The parents learned that, within the next few years, their daughter will start to accumulate iron in her brain, which will affect a host of motor functions, including her ability to speak and swallow. And though there is some research into the management of symptoms, there is no known cure. At first, the pair laid low — calling off a few days from work to allow themselves to start to process the life-changing diagnosis. But then they sprang into action. 'We knew we had to do something,' says Gerard. The couple had discovered the Loving Loic Foundation, which is in the process of raising $5 million to fund gene therapy trials in the hopes of discovering a cure to PKAN. One of Gerard's friends suggested they start a GoFundMe to support the foundation — and so they did. 'I was like, 'Let's get this plastered everywhere,' ' he says. Their colleagues helped them post flyers all around town, and the couple watched in amazement as thousands of dollars started to come in. 'We started talking to people, and everyone wanted to help immediately,' says Gerard. But the outreach didn't stop there. On July 24, Kaitlin uploaded a video to TikTok with a call for help: 'This is day one of using TikTok to save my [daughter's] life.' In the series, which has now garnered hundreds of thousands of likes on the platform, Kaitlin shares information about her daughter's health status, information about the disease and updates in the national search for a cure. Kaitlin also launched an Instagram, named 'Madeline's Mission,' to continue to spread the word. The response, says Gerard, has 'restored faith in humanity' for the new parents: 'Every single person just wants to help and everybody wants to get her voice heard.' 'No one wants their kid to go through this. No one wants their kid to be sick. No one wants to watch them struggle,' adds Kaitlin. 'But the community around us has been amazing.' Never miss a story — sign up for to stay up-to-date on the best of what PEOPLE has to offer, from celebrity news to compelling human interest stories. Though Gerard and Kaitlin know they have a long road forward, the groundswell of support has given them the ounce of hope they've needed to forge ahead. 'The first week or two was the hardest — we were definitely super depressed, and we didn't really know what to do,' says Gerard. 'But now I would say we're pretty positive, we're determined, and we're going to beat this.' Adds Kaitlin: 'We are in full force for Madeline's Mission to fund the cure.' Read the original article on People Solve the daily Crossword
