Also The 400,000 people in Mississippi who have one of the rarest of diseases struggle to find the right care, or even locate someone to talk to, but a couple of South Mississippi legislators are hoping to change that.
There are 7,000 diseases classified as rare, a distinction earned if a disease affects fewer than 200,000 Americans. In Mississippi, more than one out of every 10 people have one. Half of them are children. The odds are great that you or someone you know has one.
Those statistics grabbed the attention of Coast Sens. Philip Moran and Brice Wiggins, who are sponsoring a bill that that passed the Senate unanimously on Tuesday to set up a Rare Disease Advisory Council. It could help parents find physicians who best understand the diseases and position the state to compete for billions of dollars available from the federal government for rare disease research.
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Finding doctor who’s heard about a disease that affects a half-dozen people nationwide isn’t easy in Mississippi or neighboring South Alabama. Finding one who recognizes the condition and can recommend a treatment is rarer than the disease itself.
Consider the Ocean Springs family of a son with Jansen’s metaphyseal chondrodysplasia, which affects just six Americans. Joseph and Dona Krystosek never saw this life-changing disease coming. They had two healthy daughters. They had good jobs. Then Levi was born. Doctors knew something was amiss. They had no clue what it was.
Levi, turns out, has a debilitating form of dwarfism and other skeletal abnormalities caused by a genetic mutation.
“We couldn’t find a single doctor in the state of Mississippi who knew anything about the condition,” Dona Krystosek, Levi’s mother, said. “Levi couldn’t have been born to a better family. I was a registered nurse and my husband is a respiratory therapy. Initially, the doctors said let’s wait and see what happens.”
Instead, she started learning as much as she could. The internet led her to photos of children in India who were horribly disfigured by the disease.
“I thought, we’re not going to sit back and not do anything, we’re going to be pro-active and see what we can do.”
They found a doctor in Chicago who had treated a case of Jansen’s. He knew there was no cure but he suggested a treatment that could slow the disease’s progression.
The Krystosek’s experience is one that is repeated over and over — 200,000 times in Mississippi alone.
Most of the rare diseases are caused by genes, either a bad mix of genes inherited from parents or a gene that has mutated in a the person suffering from the disease. Occasionally the environment comes into play.
The disease may not show up until middle age or later. Many have no treatment, no cure. Some are a death sentence.
“Everybody has about five fatal, or bad genes,” said Amber Olsen, whose daughter Willow has multiple sulfate deficiency, a genetic condition that inhibits the body’s ability to clean up after its cells. “But you usually don’t marry a person who has the same. So we’re all carrying around these, you just don’t know it until you roll the genetic lottery and lose.”
Diffuse intrinsic pontine glioma, a rare brain cancer that has killed three children in the Ocean Springs area over the past eight years, is one of the most insidious. There is no cure and it almost always strikes kids. It is a death sentence.
But Moran and mothers of sick children also hope the council will raise awareness in Mississippi about these diseases and that awareness will bring research and the hope of a treatment or cure.
Diamondhead Councilmember Nancy Depreo, who found out she has a rare immune system disorder a few years back, is also the Mississippi Ambassador of the Rare Action Network. At a national summit of that group, she was given the model legislation that became the basis for the Moran/Wiggins bill.
The prevalence of rare disease was news to Moran, a Kiln Republican, when he was first approached by Depreo.
“Those of us who are fortunate enough to be healthy, we don’t think about it,” said Moran. “I had no idea how many had a rare disease and how many are dying from it.”
The bill, Moran said, won’t cost taxpayers anything and it has the potential of bringing in a lot of money.
“They are billions of dollars distributed by Washington each year to various medical centers to study these rare diseases,” he said. “Quite possibility we could receive some of that. That would be a good thing.
“If it saves one life, it’s worth the struggle to get it passed.”
The bill, which now is the hands of the House, would set up a council of doctors, nurses, rare disease patients, parents of children with rare diseases, representatives of the health insurance and biopharmaceutical industries, the scientific community and patient organizations.
It’s just a start, said Depreo.
Bad report card
On the National Organization for Rare Disorders report card, Mississippi received an A for infant screening. On the other six measures, it received a failing grade.
“It something that we need to work on,” she said. “We’re trying to start out with what we need to do but we’re losing too many people in this state.”
She said the best thing a person can do is to call their representatives and urge them to follow the Senate’s lead on the rare disease bill. Closer to home, she suggests reaching out to families who are dealing with the diseases
Depreo said politicians are about to find out just how many moms with dying children there are in the state.
“Everybody in this state needs to call their senators and representatives and ask them to vote for this legislation,” she said. “It’s desperately needed.”
Amber Olsen said the lawmakers need to hear more from parents and patients. Right now, she said, legislators are more apt to hear from pharmaceutical firms and insurance companies. They are changing that.
“There are so many issues, but first, it’s just trying to raise a general awareness in society,” she said. “There are so many rare diseases without a treatment or clinical trial. And it’s not necessarily because the science isn’t there for it, it’s just because there hasn’t been a push toward it. I think the committee is the right step in the direction of awareness and that there is representation at the state level of all these diseases and parents and advocates and caregivers. It’s a huge amount of people affected by all of this.”
What: Rare Disease day
When: 8 a.m. to 11 a.m., Wednesday, Feb. 28
Where: Mississippi Capitol, 400 High St., Jackson
Trivia Night for United MSD Foundation
When: 7 p.m. to 10 p.m., Thursday, Feb. 15
Where: Greenhouse on Porter, 404 Porter Ave., Ocean Springs
Donation: $5 for chance to win $50 bar tab
Warriors for Willow/Rotarians Creating Change Drawdown
When: 5:30 p.m. to 7:30 p.m., Thursday, Feb. 22
Where: Ohr O’Keefe Museum of Art, 386 Beach Blvd., Biloxi
Tickets: $100 for two guests, four drink vouchers, one entry into drawdown
Zebra Run For Rare Disease
When: 7:30 a.m. to 10 a.m., Saturday, February 24
Where: Fort Maurepas Park, Ocean Springs
Tickets: $25 for 5K, $10 one-mile kids fun run
Little Levi’s 12th Birthday
When: Friday, Feb. 16
What: He collects patches. You can send him one or a birthday card.
Where: Little Levi Krystosek, P.O. Box 323, Ocean Springs, MS 39564