Baby girl whose leg broke in childbirth will NEVER heal due to rare genetic disorder – leading her family to travel around the US desperately seeking a doctor to help them

On December 20th 2016, my wife and I welcomed our two beautiful children into this 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. Within an hour, there was all different types of doctors bombarding my wife and I. They all had one message to share; 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. For the past nine months every single Dr we saw, stated what a beautiful, perfect and healthy pregnancy Lauren was having.

They used a bunch of medical mumbo jumbo we didn’t understand. Our minds were a blur and our hearts ached. They said she had a very, very rare condition called Psuedoarthrosis of the Tibia. A condition that 50% of the time, is caused by a genetic disease called Neurofibromatosis. Refusing to believe them, we sought out the best orthopedist and attempted splints, casts and braces. After 4 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 is cancer related disease that causes tumors to grow anywhere on her body, particularly on her nervous system. Symptoms vary from large birthmarks, optic gliomas to bumps all over skin. The rarest symptom of this disease, is the bone problem Evelyn has. Odds are 1 in 390,000. So since Evelyn was born she has had a broken tibia and fibula and her legs are no longer equal lengths.

We have traveled all over the US looking for the best doctors to fix her leg. They all gave a bleak outlook. We became subject matter experts and refused to give in. We then found the #1 Dr in the world to attempt to fix her leg. 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 5 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. We will be here for 5+ 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. There will be plates, screws, nails and fixators used to attempt to union her bones. Those devices will be in her leg for the rest of life. 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.

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 twenties. 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.

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.

 

Allon and Lauren Theilen become first time parents when they had twins Evelyn (left) and Jackson (right) in December 2016

Doctors said that Evelyn’s only option would be amputation as casts and braces would not heal the bones

Allon and Lauren only shared the news of their daughter’s diagnosis with close family and friends but are now opening up to raise awareness about these rare conditions.
He told Daily Mail Online: ‘Within an hour [of their birth], there was all different types of doctors bombarding my wife and I. They all had one message to share; that my daughter’s leg was never going to heal, and we should get comfortable with the notion of amputation. That destroyed us.’
Evelyn suffers from a condition called pseudarthrosis of the tibia, defined as a ‘false joint’ and a break in the bone that cannot heal on its own.
It usually develops within the first two years of life and is very rare, affecting one out of 250,000 births.
Her condition was caused by an underlying genetic disease called neurofibromatosis (NF1) which causes tumors to grow all over the body, and in rare cases pseudarthrosis.
It is also unclear if there was any negligence during the delivery that caused her leg to break which led to the diagnosis.
The family from Long Island still do not know how this will affect Evelyn’s developmental and cognitive skills, but so far she is keeping up with her twin brother as they both reach milestones.
‘She’s mimicking him (Jackson) and standing on one leg,’ Allon said. ‘She sees what he does and and knows to crawl because he crawls and they both say words like ”mama”’

Allon said at the time he and his wife had never heard of either conditions before.

‘Her genetic test came back positive for Neurofibromatosis Type 1 or NF1,’ Allon said. ‘Our nightmares became a reality.’

Refusing to believe that their daughter’s leg would never heal, they sought out the best orthopedist in New York who attempted splints, casts and braces on Evelyn’s broken bones.

Though she was not in any pain from the break, after four weeks the bone segments only became worse.

This prompted the couple, who both have taken time off from their jobs in retail, to make calls and trips along the eastern seaboard from Boston to Washington DC to Florida.

In that time Evelyn was in a cast and wore a brace which made no difference to the broken bones.

‘We had an orthopedic brace made for her but the break is so low that her foot flops to the side so she doesn’t use it anymore,’ Allon said.

The broken leg is about five centimeters shorter than the other but the break is not too noticeable to the naked eye.

Now, at 13 months old, the broken bones have begun absorbing into her body, meaning she needs either a corrective surgery or amputation.

While her twin Jackson (left) is perfectly healthy, Evelyn suffers from a rare genetic disorder

Allon told Daily Mail Online that Evelyn’s diagnosis was ‘disaterous to say the least’, but they have found a doctor in Florida who is willing to operate

Read more: http://www.dailymail.co.uk/health/article-5363119/Baby-girl-leg-broke-childbirth-never-heal.html#ixzz56bKRc3Tc
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Doctors in New York told the family that amputation was Evelyn’s only option, leading them to seek specialists from Washington DC to Florida

The Theilens finally found a world-renowned doctor in West Palm Beach, Florida, who agreed to look at their daughter’s case.
Dr Dror Paley specializes in leg lengthening and has developed over 100 new operative procedures for bone disorders.
Evelyn’s first surgery is set for Thursday, which will essentially build a new ‘super bone’, according to Allon.
Using hip and pelvic bone matter, Dr Paley and his team will create a new tibula and fibula kept in place with rods, screws and plates.
They will also cut out diseased bone, which will leave Evelyn’s leg about 10 centimeters shorter than the other.
More surgeries and procedures will follow to even the legs out, including using an external brace or external fixation device.
The family has traveled from New York to Florida several time for consultations with Dr Paley, which has put stress on them financially.
They have created a GoFundMe to help with travel and medical expenses.
The family will stay in Florida for five to seven weeks while she heals, leaving their son Jackson in New York while they tend to their daughter.
‘This is just the tip of the iceberg,’ Allon said. ‘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 twenties.’
He said that with the proper care, Evelyn will be able to walk.
If she were to break another bone it is unclear if it will be able to heal, but Evelyn’s parents said they will not put her in any sports for fear that her condition would return.
‘She will battle this forever. But she will win,’ Allon said.

Evelyn will undergo surgery on Thursday to build a new ‘super bone’ but still has a long road ahead before she is able to walk

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