Kylee Cannan threw a very important first pitch Tuesday night as the Shuckers met Pensacola on Independence Day.
She threw the pitch, which was sponsored by the Sun Herald, hoping it would help strike out multiple sulfatase deficiency or MSD, a rare genetic disease affecting her sister, 3-year-old Willow Cannan. MSD affects the body’s ability to remove waste from its cells. As a result, lipids and other sugars build up in the cells causing neurological and physical disabilities.
There not yet a cure for MSD, and children with the disease often die before they reach age 10. Willow’s father, Tom Cannan, and mother, Amber Olsen, have set up an organization called Warriors for Willow to raise money to help find a cure or treatment for MSD.
Tom Cannan said events like the baseball game where Kylee threw out the first pitch were important in raising awareness of the disease, which most people have never heard about.
“I’m surprised how many people know and don’t know about it,” he said, noting that longtime friends and acquaintances may have heard about Willow, without knowing she is his daughter.
There are only 44 cases of MSD worldwide, but Tom Cannan says he suspects there are more. Because it is so rare, doctors often don’t make the correct diagnosis early.
“The more the word goes out, the more people will know about and understand the disease,” he said. And the more people know about MSD, the more support they can raise money to find a cure or treatment.
Part of the frustration, Olsen said, is knowing more about MSD than many of the doctors who are treating Willow. She said many doctors never see a case in their lives. And, she said, one doctor told her the test doctors take to get their licenses only had one question about MSD.
That will change, she said, as knowledge about MSD became more widespread. Also, she said, a possible clinical trial for MSD could find more families with the disease.
For Olsen, watching her daughter deteriorate is tough. She said her daughter’s mind was taking longer and longer to communicate to her body.
“She stopped walking in December,” Olsen said. “Now she can’t crawl. Her eating has slowed down. She has trouble picking things up. Her whole body is slowing down.
“It makes me frustrated and mad,” she said. “I can’t do anything. As a parent, you are supposed to protect your children.”
Olsen said watching Willow struggle with MSD is like a parent going shopping and noticing one of their children is missing.
“It’s that gut-wrenching panic of not knowing where your child is. And it’s with me everyday. It never goes away. I know I have to find something. I have to do something. But, there’s nothing I can do.”
Olsen said she is hoping to be able to raise money for research while it can still benefit Willow, who turns four next month.
Next week, Olsen and her husband will travel to Ireland to meet with six doctors and discuss Willow’s condition and a possible cure. The doctors include experts in MSD and experts in finding cures for genetic diseases. While Willow will not make the trip, other who will attend include a family from England and a man from Ireland whose son suffers from MSD and who has raised over $600,000 to fund research.
“I feel very strongly the doctors are going to find something,” Olsen said. “There will be a treatment. I’m hoping that it will be in time for (Willow).”
One possible treatment, Olsen said, involves gene therapy. In gene therapy, researchers implant the “good” gene into a virus. They then inject the virus into the person with the genetic disorder. Viruses work by forcing host cells in the body to replicate their genes. The hope in gene therapy is that the virus will force the host body to replace the defective gene that is causing the disease with a good gene that does not cause the disease.
Another possible treatment is enzyme replacement therapy, where doctors replace the missing enzyme. Olsen said enzyme replacement therapy could possibly help Willow combat the effects of the disease on her body, while gene therapy could help her mind.
Olsen said one of the problems faced by Willow is that her condition is complicated. While many children with genetic disorders miss one or two enzymes, doctors examining Willow estimate she is missing 17 enzymes.
Stem cell replacement might also work in some cases, but Olsen said the therapy might not work in Willow’s case due to her deteriorating condition. Before the stem cell transplant could take place, Willow’s own marrow would have to be destroyed using chemotherapy, something she might not survive. Also, neither of Willow’s older sisters are a match for her. That means the family would have to find an unrelated match. And there would still be no guarantee that a transplant would help.
Olsen said research MSD would also help patients affected by similar diseases. But, she said, the pace of research is slow.
“The science moves so slowly,” she said. “It is very frustrating.”
Once a treatment is found, Olsen said it would have to be approved by the FDA. Although the family and researchers are moving forward on several fronts, she said it wouldn’t be until sometime in 2018 at the earliest before Willow can start treatments.
Olsen said about $2.5 million is needed to start clinical trials for an MSD treatment. She said the U.S. National Institute of Health could provide around $1.5 million through a research grant. That means she and others are trying to raise about $1 million. She said she hopes to raise about $50,000 on the Coast and another $150,000 in New Orleans.
For more information on Warriors for Willow, go to www.warriorsforwillow.com or the organization’s Facebook page. Those interested in donating can also call 228-327-6916. The organization will hold a drawdown fundraiser at Boots and Spurs in Ocean Springs at 6 p.m. July 13. Tickets are $30 and include dinner and entry into the drawdown.