One-year-old girl with childhood ALZHEIMER'S in agonizing race against time to find a cure before dementia takes hold Marian McGlocklin, 19 months, has been diagnosed with 'childhood Alzheimer's' Known as NPC, the body is unable to metabolize cholesterol and lipids inside of cells. There are just 500 reported cases of children with NPC in the world The disease causes enlarged organs, lung damage, dementia, and the loss of speech and mobility There is a new drug that scientists believe could stabilize and halt progression Now the California toddler is in a race against time before the disease takes hold When Marian McGlocklin was born in late 2015, her parents Paul and Sara knew something wasn't right. Her legs were very thin, her cries weren't loud, and her milestones were delayed. They spent a year and four months pursuing tests and doctors exams. But their suspicions could never have prepared them for her diagnosis: childhood Alzheimer's. The progressive, fatal condition, officially known as Niemann-Pick disease type C, causes enlarged organs, lung damage, muscle stiffness, dementia and difficulty speaking. It affects just 500 children worldwide. In most cases, symptoms appear around the age of four. Sufferers rarely live past the age of 10. There is hope for Marian in the form of a new clinical trial that has developed a drug to stabilize children in decline and halt the disease's progression. The parents of the 19-month-old, from Los Angeles, California, have spoken to Daily Mail Online about their race against time to find treatment before the disease robs Marian of her speech and mobility - and kills her. Tragic: Marian McGlocklin, 19 months, was diagnosed with Niemann-Pick disease type C - a rare, progressive genetic disorder where patients are unable to metabolize cholesterol and other lipids properly within their cells. It causes dementia, muscle stiffness, and death Family: Paul and Sara, pictured with their four-year-old daughter Emily (center left) and Marian (center right). They spent a year and four months pursuing tests until Marian was diagnosed Devastating: Doctors first suspected the toddler, from Los Angeles, California, might have the disease after detecting an enlarged spleen combined with ongoing, mild muscle weakness Paul and Sara, who also have a four-year-old daughter named Emily, received nothing concrete until shortly after Marian's first birthday in September 2016. 'We saw that she wasn't reaching her milestones on time,' Sara told Daily Mail Online. 'You know, we were like, "Oh she's not holding her head up. She's not reaching for a toy. She's not holding eye contact". 'And then every time we were at the brink of worrying, she'd reach the milestone so we just thought she had a learning delay.' Doctors at Children's Hospital Los Angeles detected an enlarged spleen, combined with ongoing, mild muscle weakness. For five months, they visited a number of specialists - a hematologist, a gastroenterologist, a geneticist, and a neurodiagnostician - and ordered a battery of tests. Finally, this February, the McGlocklins received a diagnosis of Niemann-Pick disease type C (NPC). NPC is a rare, progressive genetic disorder, which is characterized by an inability of the body to metabolize cholesterol and other fatty substances (lipids) inside of cells. This causes enlarged organs, lung damage, and slow and steady neurological deterioration, in the form of dementia. Sad: In February 2017, Marian received her official diagnosis. NPC causes enlarged organs, lung damage, muscle stiffness, dementia and the loss of speech and mobility Odds: Only 500 children in the world have been diagnosed - and there was a one in 150,000 chance that Marian (right) would have the disease. Her four-year-old sister Emily (left) was tested as well, but her results came back negative HOW TO SPOT NPC Niemann-Pick Type C (NPC) is a disease where patients are unable to metabolize cholesterol and other lipids properly within their cells. Excessive amounts of cholesterol then accumulate within the liver and spleen, and excessive amounts of other lipids accumulate in the brain. Signs and symptoms: Vertical gaze palsy (the inability to move the eyes up and down) Enlarged liver Enlarged spleen Jaundice in young children In most cases, neurological symptoms begin appearing between the ages of four and 10. Generally, the later that neurological symptoms begin, the slower the progression of the disease. NPC causes enlarged organs, lung damage, and slow and steady neurological deterioration. Patients are eventually unable to walk, talk or even breathe. There are an estimated 500 cases diagnosed worldwide. Doctors say there may be more, but that people confuse the disease with a learning disability or clumsiness. There is currently no cure for NPC. Half of children die by age 10 and the majority will die before age 20. A late onset of symptoms can lead to a longer life span, but it is extremely rare for any person with NPC to reach age 40. Source: National Niemann-Pick Disease Foundation Facebook page to document Marian's journey as well as a GoFundMe to cover medical expenses. Out of their $150,000 goal, more than $57,000 has been raised. Genetic researchers say this type of family-driven funding is what is pushing progress towards finding a cure. 'Doctors have told me that they think NCP will be like cystic fibrosis where, you know, in the last 20 years, the life expectancy has tripled,' Sara said. 'But Marian could start declining in 10 years, five years or tomorrow. So we wonder if that increased life expectancy will be at the beginning, at the middle or at the end of her journey. 'Will it happen in time for Marian? And I hope that it will.' Source
