Mississippi rare disease task force comes as families travel out of state for care

By Morgan Gill, Roy Howard Community Journalism Center and Bibhas Pantha, RhCJC News | Originally published by Mississippi Today

KILN — Mississippi is preparing to launch a new Rare Disease Task Force as families across the state continue to make difficult decisions about where to find care, how far to travel and how to pay for treatment when specialists are not close to home. 

For families dealing with rare diseases, those decisions can mean leaving Mississippi for appointments, missing work, paying for travel or waiting for referrals to specialists trained to diagnose and treat uncommon conditions. 

To offset those burdens, Gov. Tate Reeves approved Senate Bill 2474 on April 8, creating the seven-member task force within the Mississippi Rare Disease Advisory Council. The group is expected to study gaps in care access, insurance coverage, funding and treatment options, then advise state leaders on ways to improve rare disease care in Mississippi. 

For 6-year-old Ava Maie’s family in Kiln, those barriers are already part of daily life. 

Ava Maie was diagnosed in mid-April with retinoblastoma, a rare eye cancer that begins in the retina and most often affects young children.  

The diagnosis followed what first appeared to be an eye injury. Ava Maie’s mother, Crysta Bacon, said grease splashed into Ava Maie’s eye in November 2025, leading to urgent care, an eye exam and the discovery of a large mass behind her right eye. 

“As a parent, that’s some hard news to get, especially when it runs in your family and you’ve had family that has died from it, and it’s always spread for them,” Bacon said. “It’s just one of your worries.” 

They now travel from Hancock County to St. Jude Children’s Research Hospital in Memphis, Tennessee, for urgent care and appointments since Mississippi’s rare disease care is limited by the small number of specialists trained to diagnose and manage uncommon conditions. 

Dr. Paulo Borjas, a metabolic geneticist at the University of Mississippi Medical Center, said most rare disease referrals in Mississippi go through the center. 

“We are also aware that many of these primary care providers might be unaware or might not see these conditions very often, so there is an important need for education so they can recognize them and refer patients to the proper specialist,” Borjas said. 

Because rare disease diagnoses often depend on referrals to specialists, Borjas said many patients are forced out of state for care.

“Some of these diseases are so rare and uncommon that there truly is one or two or a handful of people who are actually experts,” said Laura Hendon, a genetic counselor at UMMC. 

For Bacon, getting care also means finding ways to pay for travel, appointments and missed work. 

“Being a single parent, I’ve had to let jobs go because of it,” Bacon said. “Even when she was diagnosed with heart failure. It’s hard to find stuff to work around your job when stuff like this is going on.” 

Borjas said transportation and financial barriers are common for rare disease patients in Mississippi, especially in rural areas. 

Insurance coverage can also determine how quickly patients get evaluations, testing and specialty care, Borjas said. Medicaid has helped some patients access laboratory testing, genetic testing and other evaluations, but not all patients qualify. 

Those are the kinds of barriers the new Rare Disease Task Force is expected to study. 

The task force is designed to bring health care workers, researchers, patients, caregivers and other experts together to examine rare disease care in Mississippi. Under the law, the group will advise policymakers and submit annual reports to state leaders. 

Health care workers said Mississippi also faces broader workforce challenges, including recruiting and retaining specialists trained in rare diseases. 

Hendon said the task force could help connect medical experts, researchers, patients and policymakers who do not always work in the same space. 

For families like Bacon’s, the issue is already urgent. Ava Maie’s care now depends on treatment outside Mississippi and continued community support at home. 

This article was originally published by Mississippi Today and is republished here under a Creative Commons license.

Source: Original Article