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"Like a blindfolded walk in the dark:" Families share struggle with kids' rare diseases

Boy's story sheds light on rare disease
Boy's story sheds light on struggle with rare disease 02:07

Joey Tanella is a typical 8-year-old boy, having fun with his sister and parents. But he's among the millions of people in the United States living with a rare disease — in Joey's case, diagnosed at just two days old.

"The doctor called me and said we had to bring Joey immediately to the hospital," his mother, Tara Tanella, told CBS News. "We had to immediately stop feeding him. During those days, his organs were failing, essentially. His liver was failing."

Joey has galactosemia, which occurs in about 1 in 50,000 births. The rare genetic metabolic disorder is life-threatening. It interferes with the body's ability to process a sugar called galactose, and the only treatment is to avoid foods that contain galactose or lactose, found in all dairy products.

All babies born in the U.S. are now screened for galactosemia. But Dr. Gerard Berry at Boston Children's Hospital says even with early diagnosis and a restricted diet, children with this condition can still suffer speech and motor skill delays and learning problems.

"The goal of all of our research now is to try to understand what causes this and how we can improve the lives of these patients," he said.

There are more than 7,000 known rare diseases, according to the National Organization for Rare Disorders (NORD). A disease is considered rare in the U.S. if it affects fewer than 200,000 people. Many of these diseases, like galactosemia, do not have any FDA-approved treatments. 

The last day of February is recognized as Rare Disease Day, an international campaign to raise awareness for conditions like these. NORD maintains a database of rare diseases and offers support for families struggling with these unusual and difficult diagnoses.

It took about a year of testing before the parents of a toddler named India found out what was causing her problems. India, who will be 2 in March, was developmentally delayed very early on. She was finally diagnosed with an unusual case of Spinocerebellar Ataxia, a disorder characterized by degenerative changes in the part of the brain related to movement control. The disease usually appears later in life but a genetic mutation caused India to develop symptoms much younger.

India, nearly 2 years old, was born with a rare genetic condition called Spinocerebellar Ataxia.

"Overall the experience of our journey has felt like a blindfolded walk in the dark," her mother Sarah Stuker wrote in a blog on NORD's website. "We have great days and then we have days where it's difficult not to cry each time she falls down or hurts herself for no reason at all. It just doesn't seem fair that someone as sweet and little as her has to deal with this."

The family of a little boy named James is also sharing the story of his devastating rare disease. James was born with an ultra-rare genetic disorder of the CNTAP1 gene, which affects his brain's ability to communicate with his muscles.

"His vocal cords are paralyzed, he has very low muscle tone, eats through a gastronomy tube and breathes through a tracheostomy tube in his neck," his mother Lindsey McCarthy describes on NORD's blog.

James was born with an "ultra-rare" disorder of the CNTAP1 gene.

James recently turned 1, already outliving the life expectancy of children born with this disorder, his mother says.

There is currently no effective treatment for Spinocerebellar Ataxia or the CNTNAP1 mutation, but both India and James's parents remain hopeful.

"We don't know what India's future holds and we don't know what this awful disease will do," Stuker writes. "What we do know is that we are hopeful that with the right therapies, encouragement and constant reminders that she is unstoppable, her future will be bright despite this disease."

McCarthy says she hopes that with research a cure can be found, and until then she'll continue to celebrate each day she has with her son.

Joey's parents shared similar sentiments. "Joey is a hard worker. He loves running. He's athletic. He doesn't give up. I think he actually made both of us better people," his father, Joe Tanella, told CBS News.

Mom Tara says she wants him to "have the best possible life that he can, and he's having that right now."

They say they hope sharing their story will help other families with rare diseases feel less alone.

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