Imagine you’re a college student at the University of Minnesota. You take a few minutes away from studying to indulge in one of your favorite things - reading the Minnesota Daily campus newspaper. As you open the paper to continue a story from a front page article, you’re shocked to see a photo of your cousin and best friend. That’s exactly what happened to my nephew.
A few weeks ago, I was delighted to be contacted by Taylor Selcke, a writer for the The Minnesota Daily, who was interested in doing an article about orphan drug research. She found my blog and had questions about Michael, his rare disease and its effects on our family. As it turns out, my nephew wasn’t the only one who was shocked.
Even though Michael saw multiple doctors from the U of M who ultimately diagnosed him in 1999 Schimke-SIOD, I had no idea what orphan drug research was. I was surprised to find out that the Uof M has a Center for Orphan Drug Research and SIOD would be classified as an “orphan disease.”
Be the Change is in full support of any research, especially conducted in Minnesota, that can benefit any patient or family suffering from a rare disease. Thank you to Taylor Selcke for her contribution towards a heightened awareness of research for rare disease and the University’s Center for Orphan Drug Research. Since my family was unaware of these services available at the University of Minnesota, it’s another eye-opening experience demonstrating the extreme need for Be the Change.
Click here to view Taylor’s article or see the full text pasted below.
Families look to ‘orphan drug’ development at UOrphan diseases affect 25 million people in the United States
By Taylor Selcke
For Michael Zimanske, years of holidays and birthdays spent in hospitals began after a routine kindergarten check-up.
The doctor said he wasn’t growing like a normal 5-year-old, and full body X-rays revealed the abnormalities in his joints. It took two years for doctors to recognize the disease — Schimke Immunoosseous Dysplasia, distinguished by short stature, kidney disease and an overall weakened immune system.
The disease is estimated to affect one in every 1 million to 3 million people. It’s one of more than 6,000 "orphan" diseases in the United States. To be classified as an orphan disease, there must be fewer than 200,000 cases in the nation.
Orphan diseases affect 25 million people in the United States, according to Dr. Ramaiah Muthyala, an associate professor in the University of Minnesota College of Pharmacy.
And at the University’s Center for Orphan Drug Research, researchers are working on multiple new treatments.
"To have an orphan product, the condition must be rare and there must be some evidence that the drug will work for that condition," said Dr. James Cloyd, the director of the Center for Orphan Drug Research.
The Orphan Drug Act was passed in 1983, creating incentives for companies who may be hesitant to develop orphan drugs because of high costs.
According to Cloyd, more than 350 new drugs have been developed and approved by the FDA since the Orphan Drug Act of 1983.
To help companies obtain orphan-drug status, the University hosted a workshop with the U.S. Food and Drug Administration in August.
Minneapolis was chosen for the workshop because of the University’s Center for Orphan Drug Research, Cloyd said.
"This conference benefited companies who were intimidated by the FDA," he said. "It gave them a chance to sit face-to-face with an FDA staff member and get feedback immediately."
Cloyd said he hopes these workshops will accelerate the process of obtaining orphan drug status.
For Zimanske, there was not an orphan drug to lean on.
As he got closer to needing dialysis or a transplant for his kidneys, the Zimanskes moved Michael’s primary care to the University, just one of the many hospitals where they spent much of their time.
Michael Zimanske died just more than five years ago from a massive stroke. He was 13 years old.
For his mother, Theresa Zimanske of Lakeville, Minn., the experience brought enlightenment.
"When Michael was being treated, he really opened our eyes to the challenges young children face when they are diagnosed with a rare disease," said Zimanske.
Although from different parts of the U.S., Gina Gareau-Clark from Georgia can relate to the Zimanske family. It has been a year since Gareau-Clark discovered that her twin daughters, Julia and Maya, five years old, had mitochondrial encephalomyopathy, a disease that prevents the body from converting food into energy.
Her days are filled with multiple therapies, which the twins get at school and at home. It’s a constant struggle for balance, Gareau-Clark said.
"We want them to participate in therapies that would benefit them the most without robbing them of too much energy."
Julia and Maya need constant assistance to carry out activities many take for granted, like walking and talking.
"[Their symptoms] vary from day to day. Sometimes they go limp and lethargic because their body can’t produce enough energy," said Gareau-Clark.
Gareau-Clark doesn’t see a time when her daughters will be able to care for themselves — unless research and orphan drugs change that.
The orphan drug they now use is by no means a cure, she said, and it’s costly.
"It costs us $350 a month for the drugs Julia and Maya need. Over the course of the year, we have spent $10,000 in out-of-pocket expenses because insurance doesn’t cover it," Gareau-Clark said.
But Zimanske and Gareau-Clark remain hopeful that orphan drug research will provide better options.
"For now, all we can do is live day to day," said Gareau-Clark. "The heartbreak is always there. You appreciate your children so much more, and you want to hug them all of the time. Even though it can be daunting, be grateful for every moment and remember that they are here now."
Along with noise makers and the countdown, New Year’s Eve comes with a desire to look back and give the memories of the past year another look. Every year I wonder how 365 days could go by so fast. At the same time, I naturally begin to make room for the new memories about to arrive. Even the lyrics of the traditional New Year’s Eve song, “Auld Lang Syne,” call for reflection: “Should old acquaintance be forgot and never be brought to mind…” I think old acquaintances contain treasures that are exclusive to long term relationships and provide confidence for the path into a new year.
