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Save Nicky Fundraiser Held Thursday

6-Month-Old Child Diagnosed With Leigh's Disease

POSTED: Wednesday, November 4, 2009
UPDATED: 6:50 pm EST November 6, 2009

A young couple's dreams for their newborn son's future were shattered overnight, and a baby with an infectious smile is emotionless.

Married three and a half years ago, Jennifer and Nick Torpey gave birth to their first child 6 months ago.

Their son Nicky was born a healthy 7 pounds and 8 ounces and had a captivating smile.

"He was just extremely lovable. He would just nestle right up to you and love on you," said Nicky's mother, Jennifer.

Watch: What Happened To Nicky's Smile

The young family's joy came to a crashing halt four months later, when Nicky stopped smiling.

One night Nicky was struggling to breathe and was rushed to the emergency room, and within 45 minutes he was on life support.

After a series of tests, specialists and neurologists, the Torpeys got the devastating diagnosis.

Nicky was diagnosed with a rare inherited mitochondrial disease called Leigh’s Syndrome, which is a rapidly degenerative and terminal condition that weakens a child's muscle tone and mobility and leaves him or her expressionless.

The onset of Leigh's Disease occurs in infants from 3 months to 2 years old.

The life expectancy is zero to two years from the onset of symptoms, but there is hope that a child could live to be 6 or 7 years old.

After seven days, the family was told that Nicky’s time was limited and they were told to take him home to be with his loved ones.

The gut-wrenching prognosis is one that instantly wiped out his parents' dreams for his future.

"Everything you think about as parents -- playing little league sports, riding his bike, going to school, having a first girlfriend, first heartbreak," said Nick Torpey.

The bright-eyed child is now fed through a tube in his tiny nose and spends his days immersed in physical therapy.

The Torpeys said they fully understand Nicky's prognosis and the fact that there is no treatment, but they said they refuse to sit back.

They said they are going to fight with Nicky every day, all the while hoping and praying for a miracle.

With mounting medical bills and experimental treatments not covered by their insurance, the Torpeys are reaching out to the community for help.

A spaghetti dinner will be held at Barrister Gardens in St. Clair Shores Nov. 5 from 6 p.m. to 10 p.m.

A donation of $25 for adults and $6 per children under 12 is graciously requested.

For more information on the fundraiser contact Kathy Tortomose at 586-596-4550.

For more donation information and a slideshow of Nicky, click here.
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