As a parent, there are few things more nerve-racking than when your child falls ill. Whether it’s just a common cold or something more serious, those periods will often test the resolve of moms and dads. Sara and Paul McGlocklin could certainly attest to that, as their young daughter Marian was given a shocking diagnosis in 2017.
Residents of California, Paul and Sara were already the proud parents of a daughter named Emily prior to Marian’s birth. And following the latter’s arrival, all appeared to be going well for the growing family, with Marian hitting an important milestone when she turned nine months old. What’s more, she uttered her first words at that time as well.
However, Paul and Sara also began to pick up on some worrying aspects of their youngest daughter’s behavior during that period. While Marian learned her first words in good time, there were other scheduled landmarks that she wasn’t hitting. Then, to compound the situation, the infant started to forget the knowledge that she’d acquired.
With that in mind, Marian made frequent trips to see her doctor over the following months, as her parents looked for an explanation. And during one of those visits, the physician noticed that the young girl’s spleen was bigger than expected, which led to further examinations. After they’d been completed, Sara and Paul finally received answers to their questions in February 2017.
Throughout any person’s life, they might have to deal with some serious health issues. From heart problems to cancer, those ailments can often turn an individual’s world upside down, but they can still be treated. Unfortunately, though, there are other diseases out there that can’t be tended to as effectively.
Alzheimer’s disease is one such condition that doesn’t yet have a cure. A form of dementia, this neurological issue has affected countless people over the years. Indeed, back in 2015 it was believed that there were close to 30 million cases of Alzheimer’s across the world, causing close to two million deaths annually.
The disease itself was first studied at the very start of the 20th century, when a man named Alois Alzheimer assessed a female patient. The psychiatrist referred to the lady as Auguste D and went on to monitor her progress over the next five years. When she passed away in 1906, Alzheimer then shared his findings with the world.
In the ensuing half-decade, there were several other case published accounts of the condition, which came to be known as “Alzheimer’s disease.” Since then, the medical world has acquired considerably more knowledge about the ailment, and that in turn has led to an increase in public awareness. Thanks to the, a much greater number of people now know the signs they have to look out for.
The U.K.’s National Health Service (NHS) currently provides some information about the issue on its website. “Alzheimer’s disease is most common in people over the age of 65,” the post reads. “The risk of Alzheimer’s disease and other types of dementia increases with age, affecting an estimated one in 14 people over the age of 65.”
“[Alzheimer’s disease also affects] one in every six people over the age of 80,” the article continues. “But around one in every 20 cases of Alzheimer’s disease affects people aged 40 to 65. This is called early – or young – onset Alzheimer’s disease.” In addition to that, the NHS touches upon another significant point.
Given that the ailment is incurable, the medical service addresses the life-expectancy of Alzheimer’s patients. The post adds, “People with Alzheimer’s disease can live for several years after they start to develop symptoms. But this can vary considerably from person to person. Alzheimer’s disease is a life-limiting illness, although many people diagnosed with the condition will die from another cause.”
As for the specific details, it’s believed that those affected by Alzheimer’s can survive for up to nine years. It tends to be older people who are more likely to seek this information out, of course, as younger people aren’t usually at risk. Nonetheless, a family in California were faced with an unimaginably traumatic situation in 2017.
That year, Paul and Sara McGlocklin were given life-changing news about their youngest daughter Marian. Prior to that fateful day, the mom and dad had been seeking out an explanation for some concerning aspects of her development. Sara went on to describe this period during an interview with British newspaper the Daily Mirror.
“We noticed Marian wasn’t reaching certain milestones on time,” Sara told the publication in June 2017. “At first, doctors told us there was nothing wrong with her, and it took seven months for us to finally get a diagnosis.” On that note, the root of the problem was eventually identified when Marian’s physician picked up on something unusual.
During one of Marian’s examinations, the physician noticed that she had an “enlarged spleen,” which led to her undergoing further examinations. At the end of that process, Sara and Paul then received the results via a phone call while at their house in February 2017. Tragically, however, neither of them could have predicted what they were about to hear.
After receiving the results, Sara wrote up a post on the lifestyle website Love What Matters, detailing the family’s subsequent journey. “At only 18 months old, Marian was diagnosed with the fatal metabolic condition Niemann-Pick Type C, sometimes nicknamed ‘Childhood Alzheimer’s,’” Sara explained. “It also shares symptoms of Parkinson’s, ALS and other horrific degenerative diseases.”
From there, Sara revealed a bit more about the devastating condition, noting the effects that it can have on youngsters. “All rare diseases are a gut punch, but Niemann-Pick Type C, and its related lysosomal storage disorders, are a particular breed of cruel,” the California resident continued. “NPC children are often born seemingly perfectly healthy, and develop normally for variable periods of time.”
Despite that normal progression, though, the children in question eventually begin to exhibit signs of their underlying condition, with Sara highlighting some of them in her post. “[There are] small symptoms at first, [like] sometimes becoming a little clumsy, showing some minor developmental delays, starting to struggle with tests in school,” the mom explained. “Or getting a ‘big belly’ which is actually an enlarged spleen or liver.”
At that point, Sara looked beyond those initial symptoms and addressed the horrifying results of Niemann-Pick Type C. But first, she admitted that she hadn’t been aware of conditions like this until Marian received her diagnosis. Following the news, the mother then realized that the ailment “takes everything.”
“Next you often face tremors, seizures, cognitive decline, dementia, feeding tubes, choking, hearing loss, walkers to wheelchairs to bedridden, slurred speech and then losing the ability to speak at all,” Sara wrote. “[You also lose] the ability to move your body at all, no more smiles, pneumonia, loneliness [and] dystonia.”
Unfortunately, the disease’s progression doesn’t end there, as Sara also noted a couple of other effects. Indeed, she highlighted that the arms and legs of the patient become distorted, curling up into the body. Alongside that, sufferers lose the ability to laugh as well, with their muscles growing too weak.
On that note, Marian’s prognosis clearly didn’t look very promising. “NPC is always fatal,” Sara continued. “For kids like Marian, with early neurological signs under age two, it’s often fatal by age five or six. There are no FDA approved treatments. So this is what we heard when the doctor said Marian has Niemann-Pick Type C. All of this.”
Given the severity of the diagnosis, Paul and Sara were unsurprisingly devastated, knowing that there wasn’t a cure. Marian’s mom even admitted that she felt like she wanted to “give up” there and then, such was the feeling of overwhelming despair. However, the couple’s mindset quickly changed when they looked at the situation from their daughter’s perspective.
“Marian is bursting with love, she is kind, she is funny, she fights for every single step forward,” Sara explained. “She’d already been fighting NPC her whole life, we just didn’t know it. And then, it was clear. Marian couldn’t be her own voice. She needed our help to fight, and that’s what we decided to do. To fight with everything we could.”
Off the back of that, Sara and Paul started to look at things in a more positive light, noting the importance of the “early diagnosis.” But while they tried to remain upbeat for Marian, the California residents knew that time was very much against them. So they began to do some intriguing research.
Following a number of long conversations with moms and dads in similar situations, Paul and Sara then uncovered a trial drug named VTS-270. According to the latter, this treatment could stop the symptoms of the condition from getting worse. At that stage, though, the pair encountered their next challenge.
“It had to be given intrathecally, as an injection into the spinal fluid, for it to travel into the brain and fight back against the neurological destruction,” Sara wrote on Love What Matters. “Given Marian’s age, she would have to be sedated under anesthesia to safely receive it. Every two weeks. Indefinitely. We felt so lucky, and also completely terrified.”
But before Sara and Paul could press ahead with the treatment, they needed to traverse a tricky hurdle first. “There was a clinical trial for this drug, but you had to be four years old, and Marian was only one,” she revealed. “This meant our only hope was accessing the drug through compassionate use.”
Thankfully for Marian, a physician named Dr. Kravis agreed to start the treatment in Chicago, Illinois. As a result, however, the McGlocklins would need to travel out from California regularly, which would put a big strain on their finances. With some potentially tough times ahead, Paul and Sara then received a helping hand.
Indeed, the local community rallied around the family, with Marian’s school launching a “bike-a-thon” fundraiser. That event subsequently brought in around $4,000, while other individuals looked to play their part in raising more money with further initiatives. Those efforts were certainly appreciated by Sara, as she prepared for the trips to Chicago.
“We started flying back and forth to Chicago,” Sara recalled. “Simultaneously trying to raise awareness about this horrible disease no one has ever heard of, [and] trying to save Marian’s life. We didn’t know if the treatment would work, or how well it would work or for how long.”
With that in mind, Sara started a GoFundMe page during that period as well, setting a lofty target of $150,000. The money would then be used to help fund research into Niemann-Pick Type C. The page subsequently brought in over $75,000 in donations, before a new website was launched to continue the work.
Sara also offered an update on Marian’s progress at the back-end of her Love What Matters post. She wrote, “After five trips [to Chicago], we were wonderfully able to begin Marian’s treatments at Children’s Hospital Los Angeles, where she continues going today, every other Friday, over two years later.” And the good news didn’t end there.
“After five treatments, Marian began walking,” Sara explained. “Then her energy increased. She slowly started talking more, playing more instead of being too tired and watching with a smile. Laughing more. Completely, totally and endlessly obsessed with all things her big sister. Things we hadn’t even noticed were missing, suddenly were there.”
However, there were still some noticeable effects from the condition, as Marian struggled in certain areas of her development. Sara also lifted the lid on the additional treatments that her daughter was receiving. As it turned out, Marian had to cram a lot into her standard week.
“Marian has six therapeutic intervention services a week for speech, occupational and physical therapy, on top of preschool and hospital visits every other week,” Sara continued. “Plus a slew of doctors. It can get exhausting. She can walk long distances now, but does get tired and still has some weakness.”
Sara then provided an example of Marian’s physical difficulties, thinking back to a trip to the beach. Along with Emily, Marian attempted to traverse a sandy hill, only to lose her balance. After admitting that she couldn’t manage it alone, her sibling helped her up and they climbed the mound hand in hand, with their mom snapping a picture.
Although the situation is looking a lot more promising now than it did back in 2017, Sara nonetheless made a heartbreaking point. “We still don’t know what is going to happen, what [Marian’s] life will be like, how long she can live,” the California resident wrote. “But we do know we’ve absolutely altered the course of the disease for Marian.”
In keeping with the family’s positive outlook, though, Sara then touched upon Marian’s plans for the near future. The youngster was set to mark her fourth birthday with a party, in fact, which of course belied her condition. From there, her proud mom concluded the Love What Matters post with a touching message.
“That [Marian] is doing any of this is amazing,” Sara added. “It defies the disease. It is the hope I didn’t think was there anymore. The cure for NPC will come. The question is just, will it come in time? This is our fight. This is our life. This is our hope. This is our Hope For Marian.”