Only Alabama patient with rare fatal disease fights to keep same access to medical services after turning 21

KIMBERLY, Ala. (WHNT) — Access to government-assisted healthcare can be tricky. Add on top of it a disease that is almost unheard of, and one family says the system needs evaluating.

Khari McCrary was diagnosed with Lafora Disease eight years ago when she was 14 years old.

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It is an ultra-rare genetic disorder and a form of progressive myoclonic epilepsy, caused by a toxic accumulation of glycogen. The fatal disease causes severe neurological impairment, cognitive decline and loss of motor skills.

“[Khari] was a gifted child, she was in all-advanced classes, she was doing softball, track, all-country. She was normal,” Khari’s mom, Moniqueca Barfield said.

Barfield said then Khari started having seizures. The first was when she was just 12.

“They originally diagnosed her with generalized epilepsy,” Barfield said.

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She shared that Khari was put on medications that initially worked, but quickly became ineffective against the seizures as they progressed.

“They were putting her on medication, taking her off and I’m like, this isn’t working. Can we see a specialist?”

Barfield said at that point, she had researched Khari’s symptoms on her own; but because Lafora is so rare, she was not sure it could be the diagnosis.

In 2017, she was officially diagnosed by a specialist. The family received the news that this disease was fatal.

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“From the time of onset, the children have 10 years. That’s their lifespan, 10 years. I was just thinking in my head, ‘Why? Why us?” she said.

Khari’s first question after learning the news was about softball. She wanted to play in college, then go on to become a fashion designer. Barfield said her daughter continued playing all-star softball until she could no longer see properly.

“It started progressing fast after 2018,” she said.

Barfield said Khari’s attitude never wavered.

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Khari is now in ‘total care,’ meaning she has lost the ability to walk, talk and feed herself. She receives her food and water through a feeding tube.

“She’s total care. We do everything for her. She’s still happy, she’s still Khari on the inside. She still smiles so that’s how I know she’s still in there.”

Hers is currently the only case of Lafora Disease in Alabama.

“We suspect worldwide there are maybe 500. We have contact with about 150 currently living patients in our registry,” Dr. Kit Donohue said.

Donohue is the Science Director for Chelsea’s Hope, an advocacy nonprofit for patients with Lafora Disease.

The disease was only awarded an ICD-10 code in 2023, meaning it’s only recently been officially categorized by the International Classification of Diseases. Medical ICD-10 codes are important when it comes to diagnostic precision, healthcare billing and treatment options.

Donohue said this is a big step forward in the fight against the disease, but actually bringing partners on board to help eradicate the disease is the real challenge.

“Any company that looks at that and the millions that go into clinical trials and they don’t see that there would be enough return on investment to make it profitable,” Donohue said.

Now that Khari is 21, Barfield said the family faces a new challenge: getting her transitioned from children to adult services.

Between Medicaid and waivers, Khari was eligible to receive supplies, help from home caretakers, and more, but in states like Alabama, when a child turns 21, many services are no longer offered.

Barfield works full time and is in the army, but her insurance dropped Khari the day before she turned 21. Barfield said she fought to get it back, and it was returned once she proved Khari was an incapacitated adult.

The other issue: is home care provided by Medicaid.

“Khari does have complex medical needs and I have to work. I’m a single parent of two, so navigating that from youth services to adult services and what she needs; from getting 70 hours to going to 30 hours.”

Barfield said she reached out as far as government officials to fight to get more hours returned for nursing care. She was successful in part, but she said they’re still waiting on adult services to kick in to help with supplies.

“We’re not getting the diapers or the other things. She’s approved for those things but we haven’t gotten them yet. She’s been 21 since March 18. I’m paying out of pocket on paying all of those things.”

Even as Barfield continues to fight to get Khari covered, she pays double out-of-pocket for what she did when Khari was under Children’s Services.

Barfield tells her family’s story in hopes of spreading this knowledge to anyone in a similar position so they would not be blindsided when their child turns 21 like she said she was.

“I hope that no family has to go through this and if they do experience this they know what resources are out there, know how to advocate for themselves and they speak up,” she said. “There is an issue with the system that needs correcting because it’s hindering the families because it’s a disconnect.”

Barfield said she also fights for visibility, so people can see how devastating the disease is for families, in hopes that there can be better treatment plans, care, and eventually a cure for anyone with Lafora Disease.

“Even if we’re too late for them to help Khari, I want to make sure that we can help whoever we can.”

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