My baby girl was slightly stiff. Now she's been given just years to live after a devastating diagnosis
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.'
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
The Guardian
an hour ago
- The Guardian
A moment that changed me: I resolved to reduce my screen time – and it was a big mistake
I unlocked my iPhone screen at the precise moment that my weekly screen time notification appeared – accidentally dismissing it before I could take a screenshot – and promptly erupted into a rage. I had spent an excruciating week resolutely not looking at my phone, part of a month-long effort to whittle my daily screen time down from more than four hours a day to less than an hour, with the hope of improving my mental wellbeing (and possibly carving out a career as an inspirational speaker). But my efforts felt futile without being able to post evidence online about how offline I had become. I frantically Googled how to retrieve notifications (you cannot) and – briefly – considered re-creating my screen time report in Photoshop. Over the past decade or two, my efforts at self-improvement have taken various forms: the year where I read 105 books; the period during which I gave up all forms of sugar including, misguidedly, fruit; and a dalliance with shamanism that, I'm sorry to say, included interpretive dance. Some might suggest I would be better off learning to cook, or drive, or type with more than one finger, but they can't reach me because I no longer look at my phone. 'Project Screen Time' began after I listened to a podcast in which a comedian claimed that you shouldn't look at social media within two hours of waking up, because it messes with your dopamine, or something. This is my favourite kind of advice: uncited, from the mouth of a layperson who can't remember how they acquired it. But I gave up opening Instagram first thing in the morning and … it worked. Miraculously, choosing not to sandblast my brain with pictures of other people's abs before I was fully conscious did improve my mood. Even better, I found that if I didn't look at my socials first thing, I could often resist until after lunch. As is typically the case when I embark on a new regime, this brief moment of clarity quickly became a frenzy. I traded one obsession (looking at my phone) for another (not looking at it). In my second week, I was down to two hours of screen time a day. By my third, it was an hour and a half – and I became determined to get it below 60 minutes. Part of me was impressed that I could appear normal while quietly (nobly?) wielding this superpower. However, I was unable to keep my gift a secret. I soon began boring friends, acquaintances and service workers with tales of my herculean discipline. Before long, my quest was disrupting my day in new ways. I resented having to open Maps on my phone, so I found myself getting lost while cycling to appointments. If I wanted to show someone a picture or a meme, I would ask to Google it on their phone, rather than my own. I refused to order Ubers after nights out (the painstaking process of watching a cab crawl towards my location while the minutes of screen time racked up was torturous) and instead offered to transfer the money (later, on my laptop) to whoever did. I became increasingly frustrated that my screen time wasn't lower. I would get to 2pm having barely glanced at my phone and yet the data would claim I had used it for 36 minutes. I began to think conspiratorially. My screen time was displayed in a graph split into blue (social), turquoise (entertainment) and orange (productivity and finance). But the vast majority of the chart was made up of undelineated grey. What was the grey?! Eventually, screen time was added to the list of subjects (including the music and lore of Taylor Swift and my attraction to Ron DeSantis) that I was forbidden from discussing at home. My lowest point arrived as I was showing a friend my weekly stats, which gives you a breakdown of how long you've spent on each app. He queried why 'Settings' was my third most-used application – and I had to admit it was because that was how I compulsively checked my screen time. My tantrum over being unable to memorialise my lowest-ever screen report (51 minutes a day!) was a wake-up call; reducing my screen time had become its own form of phone addiction. Rather than escaping the need to seek validation from strangers online, I had happened upon a new way to earn their approval. But all was not lost. The realisation nudged me towards acceptance that I will probably never be a moderate person; I can't rely on any form of self-regulation (my latest regime – skincare – revolves around an LED mask that automatically switches off after 10 minutes, otherwise I fear I would be wearing it to the office like a DayGlo Hannibal Lecter). In the end, I stopped trying to recapture my screen-time report, instead screenshotting the less aesthetic chart in my settings to post online. Within minutes, DMs flooded in from people congratulating me on my self-restraint and asking how I had managed to quit my phone. I replied to them all, dopamine flooding my brain's starved reward centre. That day, my screen time was three hours and 36 minutes. Do you have an opinion on the issues raised in this article? If you would like to submit a response of up to 300 words by email to be considered for publication in our letters section, please click here.
BBC News
2 hours ago
- BBC News
Seles reveals myasthenia gravis diagnosis
Nine-time Grand Slam champion Monica Seles has revealed she was diagnosed with myasthenia gravis - a neuromuscular autoimmune disease - three years 51-year-old has chosen to go public with the rare long-term condition, which causes muscle weakness, to raise awareness before this month's US first noticed symptoms of the condition, which can affect most parts of the body - including the muscles that control the eyes, around five years ago."I would be playing [tennis] with some kids or family members, and I would miss a ball," former world number one Seles told The Associated Press."I was like, 'Yeah, I see two balls.' These are obviously symptoms that you can't ignore."It took me quite some time to really absorb it, speak openly about it, because it's a difficult one. It affects my day-to-day life quite a lot."Seles decided to reveal her condition in the hope of using her platform to educate people about the disease, for which there is currently no American won eight major titles by the age of 19, after capturing her first aged 16 at the 1990 French she won just one more after she was stabbed with a knife by a fan during a match in Hamburg in 1993 and took time away from the sport to played her last match in 2003 having won 53 tournaments and spent 178 weeks at number one.
The Guardian
3 hours ago
- The Guardian
A moment that changed me: I resolved to reduce my screen time – and it was a big mistake
I unlocked my iPhone screen at the precise moment that my weekly screen time notification appeared – accidentally dismissing it before I could take a screenshot – and promptly erupted into a rage. I had spent an excruciating week resolutely not looking at my phone, part of a month-long effort to whittle my daily screen time down from more than four hours a day to less than an hour, with the hope of improving my mental wellbeing (and possibly carving out a career as an inspirational speaker). But my efforts felt futile without being able to post evidence online about how offline I had become. I frantically Googled how to retrieve notifications (you cannot) and – briefly – considered re-creating my screen time report in Photoshop. Over the past decade or two, my efforts at self-improvement have taken various forms: the year where I read 105 books; the period during which I gave up all forms of sugar including, misguidedly, fruit; and a dalliance with shamanism that, I'm sorry to say, included interpretive dance. Some might suggest I would be better off learning to cook, or drive, or type with more than one finger, but they can't reach me because I no longer look at my phone. 'Project Screen Time' began after I listened to a podcast in which a comedian claimed that you shouldn't look at social media within two hours of waking up, because it messes with your dopamine, or something. This is my favourite kind of advice: uncited, from the mouth of a layperson who can't remember how they acquired it. But I gave up opening Instagram first thing in the morning and … it worked. Miraculously, choosing not to sandblast my brain with pictures of other people's abs before I was fully conscious did improve my mood. Even better, I found that if I didn't look at my socials first thing, I could often resist until after lunch. As is typically the case when I embark on a new regime, this brief moment of clarity quickly became a frenzy. I traded one obsession (looking at my phone) for another (not looking at it). In my second week, I was down to two hours of screen time a day. By my third, it was an hour and a half – and I became determined to get it below 60 minutes. Part of me was impressed that I could appear normal while quietly (nobly?) wielding this superpower. However, I was unable to keep my gift a secret. I soon began boring friends, acquaintances and service workers with tales of my herculean discipline. Before long, my quest was disrupting my day in new ways. I resented having to open Maps on my phone, so I found myself getting lost while cycling to appointments. If I wanted to show someone a picture or a meme, I would ask to Google it on their phone, rather than my own. I refused to order Ubers after nights out (the painstaking process of watching a cab crawl towards my location while the minutes of screen time racked up was torturous) and instead offered to transfer the money (later, on my laptop) to whoever did. I became increasingly frustrated that my screen time wasn't lower. I would get to 2pm having barely glanced at my phone and yet the data would claim I had used it for 36 minutes. I began to think conspiratorially. My screen time was displayed in a graph split into blue (social), turquoise (entertainment) and orange (productivity and finance). But the vast majority of the chart was made up of undelineated grey. What was the grey?! Eventually, screen time was added to the list of subjects (including the music and lore of Taylor Swift and my attraction to Ron DeSantis) that I was forbidden from discussing at home. My lowest point arrived as I was showing a friend my weekly stats, which gives you a breakdown of how long you've spent on each app. He queried why 'Settings' was my third most-used application – and I had to admit it was because that was how I compulsively checked my screen time. My tantrum over being unable to memorialise my lowest-ever screen report (51 minutes a day!) was a wake-up call; reducing my screen time had become its own form of phone addiction. Rather than escaping the need to seek validation from strangers online, I had happened upon a new way to earn their approval. But all was not lost. The realisation nudged me towards acceptance that I will probably never be a moderate person; I can't rely on any form of self-regulation (my latest regime – skincare – revolves around an LED mask that automatically switches off after 10 minutes, otherwise I fear I would be wearing it to the office like a DayGlo Hannibal Lecter). In the end, I stopped trying to recapture my screen-time report, instead screenshotting the less aesthetic chart in my settings to post online. Within minutes, DMs flooded in from people congratulating me on my self-restraint and asking how I had managed to quit my phone. I replied to them all, dopamine flooding my brain's starved reward centre. That day, my screen time was three hours and 36 minutes. Do you have an opinion on the issues raised in this article? If you would like to submit a response of up to 300 words by email to be considered for publication in our letters section, please click here.
