Karsen May knew there was something wrong with her daughter, Lane.
She was born six weeks early, and Karsen said she didn't show a lot of emotion, she didn't have control of body, and she couldn't even hold her own head up until she was almost 9-months-old.
"From the second she was born, she was very behind and very different," Karsen recalled. "We brought it up to so many doctors and they told us every kid develops on their own timeline, and there wasn't anything to worry about."
Then all of a sudden, there was something to worry about.
"She still hasn't walked, she's never said a word and she's almost two and a half now," said Karsen. "It was like a tornado--how everything happened because she had pain in her back. From there, it snowballed from kidneys to her spinal cord to her brain, and now we're here."
Earlier this year, Lane was diagnosed with Metachromatic Leukodystrophy (MLD), a very rare, terminal brain disease.
With MLD, patients experience a deficiency of the enzyme needed to break down fatty substances. Because of the deficiency, fatty substances build up in the brain, spinal cord and peripheral nerves, which causes patients to progressively lose function of their brain and nervous system.
The disease mostly affects young children. The average lifespan of a child diagnosed with the disease is 6 years old.
MLD is so rare that it's also hard to find any information on it, but the May family was eventually able to and have found hope of an experimental treatment that involves a stem cell transplant. While the procedure could prolong Lane's life, the family’s biggest hurdle now is the costs to get the treatment.
In order for that to happen, the family would need to relocate to Pittsburgh, Pennsylvania. That’s where the Program for the Study of Neurodevelopment in Rare Disorders is located. There, experts like Dr. Maria Escolar, specialize in treating brain diseases like MLD. "We're probably the only one in the country, and maybe the world, that is so specialized in these rare diseases," Escolar said.
The May family estimates that the move, will cost them around $80,000. So, they’ve started a GoFundMe campaign to help raise the money to get 2-year-old Lane into Dr. Escolar’s care.
Escolar started the program 20 years ago, after she met another family faced with a similar situation. Over the two decades, she said most of her patients’ ages have ranged from one-month to eight-years-old.
Escolar specializes in gene and enzyme replacement therapy, which can be either a weekly treatment program or a single treatment.
"The cost goes anywhere from $300,000 to $2 million per injection," Escolar explained. "To get that injection, you have to spend a lot of money to control the cells. The development of the therapy is expensive."
Escolar said the cost, paired with the lack of information on the disease, can be overwhelming for parents.
"Not only are you grieving a child, you're seeing them get worse and worse and trying to do something about it," Escolar said. "But, at the same time, you're confronted with all these problems."
The rarity of the diseases she treats also has a financial impact on their program. She said more often than not, insurance does not cover the treatments for patients.
"All our expenses to run this program costs about $2 million a year, we only get about $50,000 a year from insurance payments," she said. "Everything else, I have to get grants and contracts and try to fund it any way that I can."
Back in Lubbock, after spending a week in Pittsburgh and seeing specialists, Karsen is hopeful that her young daughter has a chance.
"Two months ago, we thought we had a year left with her," said Karsen. "We were told to just take her home and love on her, and make her comfortable. Now, we feel like we have some options that could give her a really good chance of even just having more years. Like instead of two years, maybe we get 15 or 20."
As of Friday, the family's GoFundMe has raised nearly $19,000 of their $80,000 goal. They have less than a month to raise the rest.
