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Toddler with 'childhood Alzheimer's' symptoms gets experimental treatment

Sara McGlocklin/ YORK) — When Marian McGlocklin was born, she weighed just over 5 pounds. Her parents thought she looked extra "delicate."

"She was having trouble gaining weight," Marian's mother Sara McGlocklin told ABC News. "We'd say she's so small and she's not very strong."

Initially, doctors tried to reassure her that Marian was normal, according to McGlocklin. But, eventually, as the infant failed to meet certain milestones they suspected something was wrong.

Last fall, doctors found that Marian's spleen was enlarged — a sign of a serious degenerative disease called Riemann-Pick disease, type C.

The disease is caused by an inherited gene mutation, which does not allow the body to properly break down cholesterol and other fats (lipids,) according to the U.S. National Library of Medicine (NLM). The cholesterol and other lipids start to accumulate to the point where they become toxic in the spleen, liver and brain. Eventually, this kills cells and causes symptoms like intellectual decline, learning difficulties, seizures, tremors, clumsiness and unsteady gait.

"What we think of as her being delicate is her low muscle tone," McGlocklin said.

It has been called "Childhood Alzheimer's" because of its degenerative effects on the brain, but McGlocklin said she thinks of the disease as far worse.

"I think the disease is even more shocking," she said. "It's a loss of every single skill you have."

Many children diagnosed with the condition at a young age may not survive to adulthood, according to the NLM.

Hearing the diagnosis was a shock for the McGlocklins.

"It was so devastating," McGlocklin told ABC News. "It was like the same feeling as when I found out my mom had cancer."

While Marian was originally diagnosed at Children's Hospital of Los Angeles, her doctors quickly looked for experimental treatments that could suppress the build up of lipids in the now 19 month old.

Eventually, after speaking with other families who have children with the disease, they found Dr. Elizabeth Berry-Kravis in Chicago, who is treating children for the disease with medication that has recently been FDA approved for rare pediatric diseases called VTS-270.

While the drug is not approved by the FDA for broader treatments, Marian was a candidate to receive the investigational drug as part of the FDA's "compassionate use" program. This allows people with severe or fatal illnesses, with no approved treatment, to use drugs in development in certain circumstances.

McGlocklin, along with her husband and two daughters, traveled to Chicago last week for Marian's first treatment. The drug is injected directly into Marian's spinal cord in the hopes that it will reach her brain to counteract the effects of the disease.

"It's like getting an epidural or a spinal tap," she explained. "They have a needle in her spine and they inject the medicine directly into her spinal fluid ... the theory is that the most possible will cross the blood brain barrier and gets into the brain."

While the family is hopeful, McGlocklin said that it has been difficult to acknowledge her daughter will need this invasive treatment every two weeks for the foreseeable future.

"I asked the doctor how long is it going to take?'" McGlocklin recalled. "The doctor said we don't know for Marian, she is the youngest person to receive the drug."

Dr. Elizabeth Berry-Kravis, who is treating Marian at Rush University Medical Center and the co-principal investigator of the drug study, said VTS-270 was discovered during tests on mice with Niemann–Pick disease, type C. VTS-270 was not the drug they were originally testing in studies; it was originally used as a way to dissolve the testing drug so it could be injected into the mice. However, researchers discovered that both the control mice and the sick mice were improving and VTS-270 was likely the reason. It then became the test drug and has gone on to win FDA approvals as an orphan drug and now a rare pediatric disorder drug — to treat Niemann-Pick disease.

Berry-Kravis added that starting Marian early on the drug could be helpful because treating patients before they develop symptoms can make a big difference.

"The idea of treating before symptoms is attractive from a neurological standpoint because once brain cells die, you can't get them back," she said. While still preliminary, she said early results from ongoing trials were promising.

The McGlocklin's are now back in their home in Monrovia, California, but will return to Chicago soon for more treatment. They hope to raise awareness about the disease by sharing Marian's story as she undergoes treatment. They are also raising funds for their travel and for further research into the disease.

"To receive the news that Marian had [Niemann–Pick disease, type C] and then learn not only is there a promising treatment, but she could get it within a few weeks ... it felt like a door was opening to save her life before she even got one dose of the treatment," McGlocklin said. "It was a massive wave of relief and felt like a huge turning point of hope for Marian's future."

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