FOX 32 NEWS - A young California girl is making a trip to Chicago every two weeks to receive an experimental treatment that could save her life.
Marian McGlocklin at 19 months old is the youngest patient to ever undergo this treatment for a rare genetic disorder that is sometimes referred to as "childhood Alzheimer's".
Marian and her mother Sarah are at Rush University Medical Center where Marian will be receiving her second treatment for a rare disorder called Niemann-Pick Disease. Children suffering from this disease usually die before they turn 20
"To know what is in her future if she doesn't get help, it's something you can't be possibly prepared to go through," Sarah said.
Niemann-Pick is a rare neurodegenerative disease that is sometimes referred to as childhood Alzheimer's.
"It resembles it in the patient develops normally for a time then has normal fuction and then they begin to lose their abilities and they lose their thinking process like a person with Alzheimer's would,” Pediatric neurologist Dr. Elizabeth Berry-Kravis said.
Marian was only diagnosed in February. Doctors discovered she had an enlarged spleen that's when the diagnosis of Niemann-Pick Diseas was determined. It affects just one in 150,000 people and happens when the body can't metabolize cholesterol and fats.
Patients also have an abnormal buildup of beta amyoloid protein in their brains, similar to Alzheimers. It can lead to not only memory loss but a loss of functions, such as being able to walk or talk, making finding a treatment immediately crucial.
"As a parent it's so terrifying to know that every day you wait,” Sarah said. “Damage is being done to your child and that could cause permanent irreversible damage."
During their search for answers, Sarah and her family found out about a trial going on at Rush University Medical Center. Marian is too young for the trial but is one of many patients allowed to use the treatment for what the FDA calls" compassionate use".
The drug has shown shown promise in animal studies and in studies in children. It has significantly slowed down the progression of the disease.
"The goal here is to try to be in there with treatment before Marian starts to go downhill so we have the best chance of preventing her from going downhill or delaying that as long as possible,” Berry-Kravis said.
Marian's family has started a GoFundMe, Facebook and Instagram page called “Hope for Marian.” Sarah said it is not only about raising money for medical bills but for research and awareness.. She hopes this experimental therapy is just the beginning in finding a cure.
"Even though we feel very unlucky that this has happened to Marian, we also feel very lucky to be part of this opportunity to be part of leading the wave of what we are hoping will be the first generation of survivors of this disease,” Sarah said.