22-month-old Marian McGlocklin battling Niemann Pick Type C
By Terry Miller
Every other week, Sara McGlocklin takes her 22-month-old toddler to Children’s Hospital to see geneticist Dr. Serrano. Once there, her daughter is placed under general anesthetic and undergoes a spinal tap as part of her experimental treatment in fighting an extraordinarily rare disease that is often referred to as childhood Alzheimer’s.
When we first met the absolutely enchanting toddler, Marian McGlocklin, last Friday during an interview at her home in Monrovia, she had just woken up from a nap and “she is a bit wobbly from the anesthetic..,” Mum Sara McGlocklin said. She explained that the entire process takes three hours – out of which only 25 minutes is she under the antiesthetic.
Taking one look at Marian as she was smiling with a gleam in her eyes and playing building blocks with her mother, one finds it hard to digest that this happy little girl has anything medically wrong, let alone something so rare and ultimately fatal.
Initially a bit shy upon our first meeting, Marian soon warmed up and quickly smiled and offered this reporter a ball to play with.
Monrovian Marian McGlocklin, 22 months, is in a fight for her life against a fatal storage disorder called Niemann Pick Type C. Her parents, Sara and Paul McGlocklin became aware of some of the initial symptoms at a very early age, but when she was 8-9 months old, the McGlocklins really noticed that their daughter was unable to sit like other children her age. The low muscle tone was a tell-tale sign of something far more serious than initially thought.
The treatment is a clinical trial called VTS 270 – a mixture of 2-hydroxypropyl-B-cyclodextrins with a specific compositional fingerprint that has been evaluated in preclinical and clinical Niemann-Pick Disease Type C studies at numerous academic labs and at the National Institutes of Health.
Cyclodextrins, is a family of doughnut-shaped sugar molecules, to treat Niemann-Pick type C-1 , which is a lethal, inherited disease that prevents the body from metabolizing cholesterol and other lipids. The resulting accumulation of fats harms the brain, liver, and lungs. It is almost always the brain damage that kills, often by the time children reach their teens.
According to Science Magazine published in October 2016, “Over the past decade, researchers working with cat and mouse models of NPC have shown that cyclodextrins can alleviate symptoms and slow progression of the disease. Although their mechanism of action isn’t fully understood, cyclodextrins readily bind cholesterol, depleting it from cells in culture. As word of the animal findings spread, a number of desperate parents obtained U.S. Food and Drug Administration approval for their physicians to administer the drug under ‘compassionate use’ protocols. Their experiences produced anecdotal reports of improvements.”
“Eventually the muscles get stiff and the patients are unable to walk. Speech becomes extremely difficult, and eventually they do die from their condition,” said Dr. Patricia Dickson, chief of medical genetics at Harbor UCLA Medical Center, told to Darsha Philips in a television interview back in April.
NPC is a rare disease, also often described “Childhood Alzheimer’s.” Half of NPC children will die before the age of ten without intervention. It is a recessive genetic disease that causes a build-up of cholesterol in the body, leading to an enlarged liver and/or spleen and later progressive damage and deterioration of the brain.
While NPC children are most always born healthy and develop normally for months or years, they will slowly begin to suffer the effects of the disease.
At some point NPC causes dementia, leaving children not even recognizing their mother’s voice, their father’s smile etc. In Marian’s case, it was her inability to speak certain words that alarmed her parents even more.
As the disease progresses, NPC children completely lose the ability to move, eat, speak and/or even breathe.
The McGlocklins never imagined Marian was showing early symptoms of a fatal condition. In September 2016, Children’s Hospital Los Angeles (CHLA) began to suspect a storage disorder after detecting an enlarged spleen with ongoing mild muscle weakness. It was in February 2017 that she was positively diagnosed.
Marian has been evaluated by NPC specialists in Chicago and at the Mayo Clinic, she very happily, does not show any signs of neurological progression and is considered pre or very early symptomatic. She is currently the youngest person in the world to receive VTS-270 to our knowledge, and this gives her a tremendous fighting chance due to her young age and early intervention.
While currently being treated by medical experts in the field at Children’s Hospital in Los Angeles, Marian’s parents remain cautiously optimistic that they can help their toddler and continue to advocate for answers as they cling for hope that there may, someday, be a complete cure for patients like Marian.
In addition to supporting advances in research, the McGlockins started a Go Fund Me page, and with that support they hope to to offset some of the medical expenses they’ll incur on this journey to help Marian live a happier, longer life.
The science to save Marian and NPC children exists, and the promise for their future is already well-underway according to research trials all over the world.
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