Today is Rare Disease Day, an annual observance to raise awareness about uncommon and often misdiagnosed medical disorders.

Support for families and loved ones of individuals with rare diseases is often limited simply because of their lack of familiarity. One such hereditary condition, known as Hereditary Hemorrhagic Telangiectasia or HHT, affects more than 600 Hoosiers, according to the Indiana Hemophilia and Thrombosis Center.

HHT can cause spontaneous and chronic nosebleeds, and only 20% are estimated to know they have it. Early detection is important, said Dr. Magdalena Lewandowska, a hematologist at the center.

"We confirm this with genetic testing," she said. "So, about 90% of patients who have HHT have a gene mutation. There's a 50% chance of inheriting it if one of your parents is affected with HHT."

She said common symptoms can include malformed blood vessels in the brain, lungs and liver, or pin-sized reddish-purple spots on a person's skin.

An additional barrier for patients with rare diseases is locating a specialist to treat them. The Undiagnosed Diseases Network Foundation defines an "ultra-rare" disease as one that affects one in 50,000 people.

Doctors face challenges in diagnosing HHT and other unique illnesses because a specific disease may not be verifiable, due to very little research about it in medical journals. Patients can be frustrated when the necessary tests are unavailable, or the disease mimics another disorder, leading to misdiagnosis.

In 2022, registered nurse Abby Terzini had symptoms of HHT. She said she was in denial - although three family members had the disease.

"I just started having more nosebleeds," Terzini said. "'It's just allergies' - or, 'It's just this, that or the other, it's not a big deal. I'm not having any big issues with this, so I don't need to go to the doctor.'"

Terzini said she eventually decided to get help from doctors who prescribe "bleed kits" containing medication to prevent or lessen the severity of a nosebleed. In 2024, it was reported that a drug used to treat bone marrow cancer and Kaposi sarcoma - a cancer that affects the blood vessels and lymphatic system - is showing promising results for HHT as well.

A bill in the Tennessee General Assembly is reigniting debate over how rural hospitals can staff anesthesia providers. House Bill 979 would address the shortage of anesthesiologists in rural Tennessee by allowing hospitals in counties with fewer than 105,000 residents to directly employ physician anesthesiologists.

Hospitals now have to use third-party anesthesiology services.

Dr. Louis Chemin III, anesthesiologist and physician with Tennessee Anesthesiology Consultants Exchange, supports physician supervision in what's known as the "Anesthesia Care Team" model. He said anyone hired as an anesthesiologist would be required to follow strict medical guidelines.

"Currently under state law, a hospital cannot employ an anesthesiologist, a radiologist, a pathologist or an emergency medicine physician. If this bill were to pass, it would allow hospitals in these rural communities the option to hire an anesthesiologist," he contended.

Chemin said the bill would allow a hospital anesthesiologist to perform anesthesia in one operating room, or to supervise the process in up to four operating rooms.

On Wednesday, the bill passed the House with a vote of 72 to 5, with 11 members "present but not voting." It now heads to the state Senate.

When a physician anesthesiologist provides medical direction to Certified Registered Nurse Anesthetists or Anesthesiologist Assistants, Chemin explained, they must comply with seven steps outlined by the Centers for Medicare and Medicaid Services to qualify for reimbursement under Medicare.

"This law means that if a hospital employs an anesthesiologist, that they must allow the anesthesiologist to practice in a way that is safe and is in agreement with these seven steps," he continued.

Chemin added that these requirements would ensure the anesthesiologist's active involvement in the patient's care and safety.


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A new report found Missouri's public health agencies are not sharing information effectively and fixing the problem could lead to better health care for people in the state.

The Missouri Department of Health and Senior Services released its first assessment of the state's digital health system, highlighting ways to improve how health data is shared and used. The evaluation uncovered significant gaps in sharing critical information such as disease rates, hospital visits, birth outcomes and access to care.

Joshua Wymer, chief health information and strategy officer for the department, shared key insights from the report.

"Data is still often siloed," Wymer pointed out. "There was an opportunity with data to advance inoperability, there's an opportunity to always be better at privacy and security because we know that the threat of that is always evolving."

The report recommended establishing clear rules and strong leadership for better data management. More than 200 organizations took part in the assessment, through 25 meetings across nine regions.

A separate study found health care providers said patient access to electronic health records improved communication and treatment discussions. Wymer also shared what citizens expect from the systems as health data grows in importance.

"They expect their data to not only be available and readily accessible, but they expect it to be private and secure," Wymer reported. "And they expect an experience that moves closer and closer to them and their routine and their priority."

The assessment revealed Missouri's public health agencies have different digital capabilities but are ready to adopt new data systems.


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Wednesday is National Healthcare Decisions Day and advocates are calling attention to Florida's pressing need for advance care planning, particularly among vulnerable groups.

About one in five Floridians is over 65 and the state also struggles with one of America's highest uninsured rates, at 10.7%, significantly above the 8% national average.

Brandi Alexander, chief engagement officer for the national end-of-life advocacy group Compassion & Choices said Latino residents have nearly double the uninsured rate of white Floridians. She noted there are good reasons for anyone to plan for their future health care needs.

"Nearly half of the population are people of color in Florida," Alexander pointed out. "A 2021 study found that the preventable mortality rate for Black individuals was 1.5 times higher than it was for their white peers."

The annual awareness day encourages families to discuss and document their medical preferences before a crisis strikes. Florida's 52 licensed hospice organizations serve patients through hundreds of care teams statewide, according to state health data. Alexander emphasized clarifying care wishes can alleviate burdens on families and reduce preventable suffering.

Alexander added normalizing the conversations can empower patients and reduce disparities.

"The more we have tools and the more we normalize the conversation, we can start changing some of the negative stigma that comes with talking about death," Alexander stressed. "Because once you're talking about it and you know what options are available to you, you can then really advocate for yourself within the health care system - and that's how we really create change."

Free resources, including advance directive forms and multilingual guides, are available through the state health department and advocacy groups like Compassion & Choices.