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We frequently imagine persons with a wealth of memories who have lived life to the fullest when we think of persons who have been diagnosed with Alzheimer’s. Never mind two-year-olds; we never consider anyone younger than five.
However, due to the similarity of the symptoms, this adorable 18-month-old is currently battling a rare condition known as Childhood Alzheimer’s.
Marian’s Tragedy: A Story
Photo Credits – Sara McGlocklin
On February 28, 2017, Marian McGlocklin received a presymptomatic Neumann-Pick Type C diagnosis. This condition is a genetic pediatric neurodegenerative illness.
Sara, Marian’s mother, explains to The Healthy Mummy that Marian was fairly little and slightly jaundiced at birth.
“Since my husband and I are both tall, we asked about her health and were informed that she fell within the acceptable infant range by her doctor. Marian also had a “low tone,” or floppy head, but it wasn’t bad.
“At the time, we were unaware that she had muscle problems; we just thought it was because she was a little baby. She felt extremely sleepy. Despite my inability to identify it, I sensed something was awry.
Sara claims that they saw Marian falling behind in aspects of her physical development. Although she was unable to crawl and was unable to support herself when it came time to sit up, she was incredibly interested in learning new things and was eager to play, talk, and observe her environment as well as grow stronger.
“As a precaution, we saw a neurologist and began physical therapy. The neurologist eventually directed us to see a specialist at the hospital, despite the fact that at first we were assured there were no indications of anything dangerous,” explains Sara.
Marian’s CK level, which assesses muscle mass, was on the low end but within the usual range, while the rest of her blood testing was entirely normal.
“We learnt about storage problems for the first time,” the specialist at our children’s hospital said. “The physician at our children’s hospital checked her belly and was the first to inform me she thinks Marian has an enlarged spleen and liver.”
After doctors became confused by Marian’s enlarged spleen, they discovered that she had a fatal genetic condition called Niemann-Pick Type C illness (NPC), also known as childhood Alzheimer’s.
Neumann-Pick, A genetic neurodegenerative condition in children known as type C, causes the nervous system to deteriorate progressively.
It may impair a child’s capacity to metabolize cholesterol, which may have an impact on the liver, spleen, and brain. Marian technically exhibits “pre-symptomatic” signs of the classic NPC symptoms because she doesn’t experience any neurological ones.
Marian is delayed in walking; at 19 months old, she is only now beginning to take some unassisted steps. Marian also has a borderline enlarged liver, mild hypotonia (low muscular tone), and an enlarged spleen that is about two centimetres beyond the usual range.
The mother of four-year-old Emily, Sara, claims that doctors would not have known Marian was carrying a dangerous disease if they hadn’t felt Marian’s abdomen. If left untreated, the sickness will cause Marian’s death.
Sadly, Marian’s internal organs will eventually be damaged by NPC, and those who have it are more susceptible to a progressive neurological deterioration that makes it possible for them to lose even their ability to recognize their own mother’s voice. Severe dementia is the result.
Around the world, 500 cases of type C Niemann-Pick disease have been identified. The number of people affected by NPC is thought to be higher, although diagnostic challenges prevent a precise estimation of the occurrence rate.
NPC was initially identified as a learning deficit, slight retardation, “clumsiness,” and delayed fine motor skill development. According to the National Niemann-Pick Disease Disease Foundation, it is not unusual for a family to seek a diagnosis for several years before discovering NPC.
NPC always ends in death. Most NPC patients are dead by the age of 20. (many die before the age of 10). Longer lifespans can result from symptoms showing up later in life. However, it is highly rare for someone with NPC to live past the age of 40.
Seeking Hope
The McGlocklins have made the decision to enroll Marian in a program that uses Cyclodextrin, an experimental medicine still through clinical testing, to slow down NPC.
“Cyclodextrin is a medication that is now undergoing a phase 3 global clinical trial but is not FDA-approved (in the U.S.). So far, it has been very successful in stopping the development of NPC, claims Sara.
“It appears to function longer and more effectively the earlier it is started. In experiments on animals, cats were left untreated and lived for six months. The difference between NPC cats treated preventatively who lived until five and NPC cats treated with cyclodextrin who lived until two was significant.
Marian will need to travel back and forth every two weeks between Chicago and California, where she currently resides with her family, in order to receive a spinal drug, which is how the medication is delivered.
To help raise money for Marian, the family has created a GoFundMe page.
It’s a little challenging to get cyclodextrin. Marian must apply for something called “compassionate use” because it isn’t FDA-authorized yet, and she is too young to participate in the clinical research, according to Sara.
“Chicago, almost 2,000 miles from our house, is currently the only place she can access this quickly. Our local Children’s Hospital is accepting applications right now; it’s a great facility, but the application procedure is lengthy.
According to Sara, Marian’s family is still hopeful for her.
Marian will require this medication every two weeks for the remainder of her life or until the results of other medical studies, such as gene therapy, which is in the works, are commercially available, according to Sara.
“Cyclodextrin is not a cure, but it is an effective treatment that can greatly lengthen healthy lives while waiting for breakthroughs in medical science. We never give up on her, though.
Marian’s family has hope for the future, despite the uncertainty. Pre-clinical investigations have shown that the currently used medication, cyclodextrin, is not a cure, although it can function for a very long time; the precise duration is unknown.
Although Marian’s future appears promising, Sara continues, “It’s terribly worrisome as her mother.”
“Ideally, she’ll start taking cyclodextrin, and it’ll keep the disease at bay for years. Because she’ll start the treatment early in the disease, hopefully, she’ll develop properly and be healthy.
“Some businesses are developing gene therapy specifically for NPC. To be “the cure” and preserve her life, in my opinion, this has a very excellent possibility of working effectively with cyclodextrin.
Marian and her wonderful family are receiving tons of good wishes from the Actbiggy team. Our sympathies are with them. I hope she has a bright future, just like her mother, Sara says.
