Meet Annabelle Bozarth
Doctors told Stephanie Bozarth that her daughter Annabelle would need a wheelchair by the time she reached the first grade. Prepare yourself, they said.
In 2006, Annabelle was diagnosed with mucopolysaccharidosis, or MPS IV, when she was just a few months old. This rare progressive disease damages bones and stunts growth. It is one of 11 types of MPS, many of which affect neurological development and none of which have a cure. For Annabelle, the disease caused extreme exhaustion and pain, to the point where she could not even walk across the street to the grocery store without being carried.
“It’s an extremely devastating disease and completely takes over the life of not just the parents, but the whole family,” says Stephanie. “Everyone is involved, everyone is affected.”
After years of surgeries and physical therapy to repair Annabelle’s deteriorating bones, Stephanie enrolled her daughter in a clinical trial experimenting with enzyme replacement therapy. Annabelle was one of the youngest trial participants at age 5. They hoped the therapy would alleviate some of Annabelle’s pain and prevent further damage.
Stephanie did not notice the improvements at first. But just a few months later, on a trip to the grocery store, Annabelle refused to be carried and said, “I think I’m going to walk it this time.” She proceeded to follow her mother on foot throughout the store. For the first time in a long time, the Bozarths saw a brighter, more hopeful future.
“It’s an extremely devastating disease and completely takes over the life of not just the parents, but the whole family. Everyone is involved, everyone is affected.”
Now in the third grade and still without a wheelchair, 8-year-old Annabelle is able to move, play and lead a normal life. Stephanie has been thrilled with the results of the treatment, but she knows it is not enough. Only four of the MPS diseases can be treated using this enzyme therapy, and, at best, it only slows down the disease’s progression.
“It’s frustrating for me as a parent because they know so much about [MPS IV]—they understand the process of what’s happening and why it’s happening and where it’s happening in the cells. But there just isn’t enough funding for research to get us to that cure spot.”
And because most of the sufferers of rare diseases are children, Stephanie says, it difficult to draw attention to the need for more medical research funding.
“These children are dying before they even get a chance to advocate for themselves,” Stephanie said.
Children like Annabelle are the reason why increased funding for NIH is so important. Research supported by the National Institute of Neurological Disorders and Stroke (NINDS) has shown promise investigating the effects of MPS on brain cells. But it is still years away from a clinical trial.
Help Annabelle and other MPS patients by getting involved with ACT for NIH today.