Baby Battling Rare Disease: 'Our Nightmares Became Reality'

NORTH FORK, NY — North Fork winemaker Richard Olsen-Harbich of Bedell Cellars in Cutchogue has turned to social media to help his beautiful 13-month-old grand-niece, engaged in the fight of her young life.

"This is my beautiful grand-niece Evelyn, the daughter of my niece and goddaughter and her husband Allon," he wrote. "They are facing the challenge of their lives and could really use some help getting Evelyn the care she needs. Please take a moment to read and help out if you can. God bless."

A GoFundMe, "Evelyn's Battle With NF1" was posted by Allon Theilen of Smithtown.

On December 20, 2016, Theilen said he and his wife Lauren welcomed their two beautiful children into the world.

"Being first-time parents, and having twins, was an exciting but scary time for us. When my daughter was born, her leg was broken during delivery. This devastated us," he said.

Within an hour, doctors had a devastating message, Theilen said: "That my daughter's leg was never going to heal, and we should get comfortable with the notion of amputation. That destroyed us. Here we are, parents for all of 60 minutes, being told Evelyn would lose her leg. You couldn't imagine the heartache we felt."

During his wife's pregnancy, the couple had been told that she was healthy, he said.

But once Evelyn was born, the couple was told that their baby had a "very, very rare condition called psuedarthrosis of the tibia, a condition that 50% of the time, is caused by a genetic disease called neurofibromatosis," a condition that can cause tumors to form on nerve tissue, he said.

"Refusing to believe them, we sought out the best orthopedist and attempted splints, casts and braces. After four weeks, the bone segments only became worse. We realized the condition was a reality. Within just a few short days after, her genetic test came back positive for Neurofibromatosis Type 1 or NF1. Our nightmares became a reality."

NF1, he said, causes tumors to grow anywhere on his daughter's body, particularly on her nervous system.

According to Mayoclinic.org, an estimated three to five percent of individuals with NF1 develop cancerous tumors.

Symptoms vary from large birthmarks, optic gliomas to bumps all over skin, he said. "The rarest symptom of this disease, is the bone problem Evelyn has. Odds are one in 390,000. So since Evelyn was born she has had a broken tibia and fibula and her legs are no longer equal lengths," he said.

The young family, Theilen said, has traveled all over the United States looking for the best doctors to fix her leg.

"They all gave a bleak outlook," he said, until they met the "number one doctor to fix her leg" in Florida.

"We've made several trips to Florida to meet with this doctor and schedule her surgery. That surgery is next week. Last week, we flew down to FL so she can have an infusion. A 13-month old girl hooked up to an IV for five hours was tough to watch. Now I'm driving across the country and we are preparing for the most difficult thing we will ever experience in our lives," he said. "We will be here for five-plus weeks and away from our son Jackson the entire time. Once released to go back to NY, further recovery and bone healing will take months. There is no guarantee the bone will heal."

Evelyn will have a bone graft taken from both sides of her hips; her two leg bones will be hollowed and filled with rods, Theilen said. There will be plates, screws, nails and fixators used to attempt to join her bones; those devices will be in her leg for the rest of her life, he wrote.

"If you know my daughter, you know she is a feisty, fierce, strong and determined little girl. She will prevail, and she will learn to walk and use her leg," he said.

But the costs, he said, are daunting: "This is just the tip of the iceberg."

There will be multiple surgeries, including stretching of the bones, replacing rods and adding/removing plates, to take place until she reaches her late teens or early 20s, he predicted.

"She will battle this forever. But she will win. Lauren and I have exhausted our life savings on medical expenses, flights, hotels, etc. Even with insurance this surgery will cost us $10,000. And there will be dozens of surgeries over the years. We have decided to start a GoFundMe for Evelyn to help cover some of her medical costs so she can continue to get the best care in the world," he wrote.

"We shared our story with you. We now ask you to share this story, to help raise awareness of this awful disease and put thousands of those affected by it, closer to a cure," Theilen said.

To donate, click here.

Photo courtesy GoFundMe.