She is an adorable tot, but Marian McGlocklin is facing a very uncertain future.
The 18-month-old was diagnosed with a fatal genetic disorder called Niemann-Pick disease type C, which is sometimes referred to as childhood Alzheimer's, according to ABC7News.
It's a devastating disease on every single level: It's nothing short of fatal.
According to the Niemann-Pick Children's Fund, there has been around 500 cases diagnosed worldwide ever, and in the U.S, it is estimated that 100 individuals are currently alive. Most diagnosed with NPC are not expected to live past their teenage years and the life expectancy of those diagnosed with it, is younger than 20. Over time NPC children slowly but completely lose the ability to move, eat, speak or even breathe.
Marian's parents, Paul and Sara, are hoping that their baby girl will defy the odds and be one of the ones that survives this brutal disease. They are currently raising money to fund research and access to the treatment for Marian with their Hope for Marian GoFundMe campaign.
In just one month, they have raised $54,000 with their end resulting goal of raising $150,000, which will be used in clinical treatment trials that could slow the progression of the disorder.
They write on the fundraising site: “Cyclodextrin, named VTS 270 in clinical trials, is a sugar compound found in fat free dressing and margarine. It also is what will help save Marian's life. It appears to stabilize children in decline, substantially halting the progression, which was scientifically impossible only a few years ago. Phenomenally, early symptomatic children like Marian are likely to thrive with this treatment. Currently, VTS 270 can only be administered via a spinal tap under anesthesia in a hospital every two weeks, indefinitely. Because she is so young, Marian needs to access VTS 270 through a compassionate use application, a complex process which is pending thanks to our incredible team of doctors and specialists.”
Marian's parents knew from the moment she was born, something was wrong with their baby girl
They detail of how they discovered her fate: “When Marian was born we knew there was something slightly unexpected, her legs were so thin, her cry a little quiet. But never did we imagine she was showing early symptoms of a progressive, fatal condition. In September, Children’s Hospital Los Angeles (CHLA) began to suspect a likely untreatable storage disorder after detecting an enlarged spleen combined with ongoing mild muscle weakness. But Marian didn't fit the picture. She was making progress. She was getting stronger, not weaker, not dying. We desperately sought every specialist we could in order to find a diagnosis. Fearfully, we did a battery of tests and awaited the results.
“When we got the call on February 28 with the results of the DNA whole exome sequencing time stood still. At only 18 months old Marian was diagnosed with NPC. Fatal. After the call we were in shock and brokenhearted. We began blindly reaching out to other NPC families and quickly learned, this is NOT a death sentence and there IS hope to save Marian's life. We heard the same thing on every call: get Marian on a highly effective clinical trial drug cyclodextrin as soon as possible. Every day counts.”
Sara tells Kindness & Hope that she is so grateful for the support the family have already receieved.
“The support of our community means the world to us,” she says. “The lives of Marian and all NPC children can and will be saved, but it is something no one can tackle alone. We are deeply grateful for everyone who is standing by our side during this time to help save Marian's life.”
It is her hope that Marian is either going to be “one of the last children to die from this disease or the first one to survive it – and we are going to do everything we can for her to be one of the first to survive.”
Please save this little girl's life by donating directly to their fundraising campaign HERE. Every dollar helps.
To learn more and to keep updated on Marian's progress connect with the family on Facebook, Instagram, and on the website Hope for Marian.
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