OCEAN SPRINGS, Miss. — Imagine that you are the parent of an adorable, healthy, curious and loving baby girl.
As she grows, you realize she is not meeting her developmental milestones, but your doctor assures you that she will catch up to the rest of the children eventually. She doesn’t speak, is slow to walk and while this in itself is not alarming, your pediatrician refers you to a neurologist.
You wait weeks for the results and the doctor confirms your deepest fears with a devastating diagnosis – your baby girl has a rare and fatal genetic condition for which there is no known medication or cure.
In May 2016, Tom Cannan and Amber Olsen’s daughter Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), a rare type of lysosomal storage disorder. She was born with a mutation of the SUMF1 gene, which means that her body does not create sulfatase enzymes.
This prevents her body from breaking down and recycling natural cellular waste. It is a fatal condition that affects the entire body.
Over the next few years, Willow’s body will slowly break down, she will lose her vision, and her brain will eventually shut down—likely all before she reaches her tenth birthday.
At just three years old, Willow now walks with a walker, has trouble sitting or eating on her own, and has never spoken.
“The doctors told us to go home and spend time with our daughter – that there was nothing we could do besides be with her and make her comfortable. We found research online that a treatment was close but lacked funding. We realized we had to develop a plan and put it in action, so we created the United MSD Foundation to raise money for a cure. Our campaign is called Warriors for Willow. We will fund the work needed to develop a clinical trial, we just hope it is in time for Willow,” says Willow’s mother Amber.
While less than 50 children worldwide have been diagnosed with Willow’s specific condition, lysosomal storage disorders are believed to have an estimated frequency of one in every 5,000 live births. A cure for MSD could potentially result in the cure for multiple conditions, saving thousands of children.
“There’s been a resurgence of new types of treatments for these rare inherited disorders like MSD,” says Director of UNC Gene Therapy Center, Dr. Steven Gray. “Gene therapy has been at the forefront of this resurgence and has proven to have outstanding results in many cases. Because we know what’s wrong and what genes are missing, I have high hopes that a cure can be identified. However, it all comes down to funding.”
The United MSD Foundation’s goal is to raise $210,000 by October 1, 2017, to fund the next stage of research. As a rare condition, Multiple Sulfatase Deficiency has not attracted research funding from pharmaceutical companies, which leaves families like Willow’s to fight for a cure on their own. The United MSD Foundation aims to ensure that this devastating condition receives the research attention it requires and deserves.
“In the beginning, we hoped that finding a cure for MSD would save our daughter,” says Willow’s father Tom. “We just wanted her to live. But now we are fighting for all of the families worldwide whose lives have been devastated by this condition. We have to give them hope.”
To see a video of Willow’s story or to donate to the United MSD Foundation, click here. All donations will help fund research and clinical testing to identify a cure for MSD.