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Rare Disease Day: The struggles of three children highlight rare genetic diseases



Joey Tanella is a typical 8 year old boy who enjoys playing with his sister and his parents. But he is among the millions of people in the United States living with a rare sickness – in the case of Joey, diagnosed only two days.

"The doctor called me and said we needed to get Joey immediately to the hospital," his mother, Tara Tanella, told CBS News. "We had to stop feeding him immediately, and during those days his organs were basically failing, 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 containing galactose or lactose, which are present in all dairy products.

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

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

According to the National Organization for Rare Diseases (NORD), there are more than 7,000 known rare diseases. In the United States, an illness is considered rare if it affects fewer than 200,000 people. Many of these diseases, such as galactosemia, are not subject to any FDA-approved treatment.

The last day of February is recognized as Rare Disease Day, an international campaign to raise awareness of such conditions. NORD maintains a rare disease database and supports families dealing with these unusual and challenging diagnoses.

It took about a year of testing for his parents before the parents of a small child, India, discovered what was causing him problems. India, which will be 2 years old in March, experienced a very early developmental delay. She was eventually diagnosed with an unusual case of spinocerebellar ataxia, a disorder characterized by degenerative changes in the brain's movement control. The disease usually appears later in life, but a genetic mutation has caused much younger symptoms in India.

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India, nearly 2 years old, was born with a rare genetic disease called spinocerebellar ataxia.

"Overall, the experience of our trip was like a walk in the dark with blindfolded," his mother Sarah Stuker wrote on a blog on the NORD website. "We are living great days, but it's hard for us not to cry every time she falls or gets hurt for no reason." It just does not seem right that someone so nice and so small that she has to handle that. "

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

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

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

James recently was 1 and already exceeds the life expectancy of children born with this disorder, his mother said.

There is currently no effective treatment for spinocerebellar ataxia or the CNTNAP1 mutation, but parents in India and James are still hopeful.

"We do not know what the future of India holds and we do not know what this terrible disease will do," Stuker writes. "What we do know is that we hope that through the good treatment, encouragement and constant reminders that she is unstoppable, her future will be bright despite this disease."

McCarthy says she hopes that with the research, it will be possible to find a cure. Until then, she will continue to celebrate each day with her son.

Joey's parents shared the same feelings. "Joey is a hard worker, he loves to run, he's athletic, he does not give up, I think he made us both better," said his father, Joe Tanella, at CBS News.

Mom Tara says that she wants him to "have the best life possible, and he has it now."

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


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