Get the latest from TODAY
During Bridgette Ludden’s baby shower, she glanced at her belly and noticed she was smaller than her friends' bellies when they were eight months pregnant.
Worried that something had happened, Ludden later visited her doctor who realized the mom-to-be was losing fluid. After a week in the hospital, doctors performed a C-section and Ludden’s daughter, Stella, was born at 33 weeks, weighing 2 pounds, 11 ounces. She had stopped growing at 28 weeks.
“Everything worked fine. She was out of the NICU so quickly,” Ludden, 38, told TODAY. “She was on the rise every day.”
Despite her only being 3.5 pounds when she came home, Stella grew and developed, hitting her milestones. Ludden and Stella’s father, Saverio Carbone, enjoyed watching their daughter flourish, but then something changed.
“We were great until about a year and then she wasn’t meeting milestones,” Carbone said.
At 17 months, Stella still wasn’t walking. But they noticed something even more disturbing — Stella seemed oddly forgetful.
“She was losing skills. She would do 'Head, Shoulders, Knees, and Toes' and one day she stopped doing it, like she forgot it,” Ludden said.
They took Stella, now 2-1/2-years-old, to see a neurologist who didn’t spot anything unusual in her MRI. Doctors noticed that the girl’s spleen was enlarged. While doctors didn’t know why, they reassured the family that Stella would catch up.
But Ludden knew something was wrong.
“She had the enlarged spleen the whole time and that wasn’t going away," Ludden said. "And she was changing a little bit. She used to say ‘hi’ all the time … and then she would stop doing that.”
Her parents felt determined to find an answer and visited doctor after doctor. Finally, they went to a geneticist.
“We had been tested for so many things that I thought we were going to be fine. It didn’t cross my mind that it would be this crazy, rare disease,” Ludden said.
Ludden and Carbone learned Stella had Niemann Pick Type C, a condition so rare that the National Niemann-Pick Disease Foundation estimates there are only 500 cases worldwide.
Children with Niemann-Pick Type C can’t properly metabolize cholesterol and other lipids, meaning the body stores too much in the liver and spleen. They also accumulate in the brain.
"There seems to be a problem with cholesterol but not in the way we think of it. These medications don't make much of a difference," said Dr. Ann Tilton, a professor of neurology and pediatrics at Louisiana State University and a fellow of the American Academy of Neurology, who has not treated Stella.
At first, Niemann Pick seems like a learning disability. But then most with this disease experience neurological decline, including an inability to move their eyes vertically, lack of muscle coordination, loss of speech, an inability to swallow, cataplexy, seizures, loss of tone, and eventually dementia. The later the onset of symptoms, the longer the life expectancy.
"It is clearly life limiting. A child might make it into their teens," Tilton said.
Treatment involves managing the symptoms, including occupational therapy and use of a G-tube to help with swallowing.
“Hardly anyone knows about Niemann-Pick Type C, period,” said Carbone.
This means most doctors in West Palm Beach, Florida, where the family lives, do not know have experience treating it. An experimental treatment, cyclodextrin appears to reduce cholesterol and lipids in animal models, which means it might be useful in prolonging human lives. But it is not an FDA-approved treatment.
“The hardest part is finding a doctor and hospital that will do this protocol,” Carbone said.
Carbone hopes that doctors will agree to a compassionate use of the drug to treat Stella; it's the girl's only option.
“It is not a cure. It just slows things down,” Carbone said. “Hopefully, they are getting close to a gene therapy cure.”
Slowing the disease might improve Stella's quality of life. She already has a G-tube because she can’t swallow. She sometimes chokes on her saliva and struggles with muscle control. The other day she woke from a nap and didn’t recognize Ludden. And, she can no longer talk.
“She went from saying ‘Momma’ all the time. Then it went to ‘Mom.” Then it went to ‘Ma’ and then it turned into ‘Meh’ and now there is nothing. That’s been really hard. What I wouldn’t give to hear her say ‘Momma,’” she said.
Even with treatment, they know Stella's life is shortened.
“She is the love of my life. The time that I have with her is probably the happiest time I will have,” Ludden said. “I want to be grateful that I have the time I have now.”
Stella’s parents, who are separated, spend much of their time creating memories with her.
“I have a pool, I play with bubbles and have music on and it is her favorite thing. It is so simple and it is really important to her,” said Ludden. “She is always really happy.”
“She always seems to be on the happier side of things,” he said.
Ludden’s friend, Melissa Hudson, started a foundation after her son Harrison died as an infant, Hope for Harrison. It is raising money to help Ludden with medical expenses. People can donate here.
Carbone’s friends set up a Go Fund Me to help with his portion of the expenses and people can donate here.