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Our Journey Navigating a Rare Disease

Dr. Tom Novacheck, Pediatric Orthopedic Surgeon and Krabbe patient.

Dr. Tom Novacheck, Pediatric Orthopedic Surgeon meets with Zoey. 

NOTE: Gillette Children's specializes in the diagnosis and treatment of rare diseases. One mother describes her family's journey navigating a rare disease. While the diagnosis of the genetic disorder was the same for both of her children, the outcomes are very different. 

Zoey’s journey begins three years before she was born. She is not the first child in our family who was born with a rare disease. Fortunately for Zoey, her older sister Raegan paved a path to gain access to the care she desperately needs to be here today. Unfortunately, it came at the expense of Raegan. By the time doctors could figure out what was wrong with Raegan, when she was only 9 months old, her time had run out. It was too late for her to receive treatment. So, while Raegan and Zoey were both born with early infantile Krabbe disease – to the same parents with the same mutation of the disease – their outcomes are very different.  

Krabbe is a leukodystrophy (disease of the white brain matter) that results in a missing brain enzyme. In turn, it affects the myelin sheath protecting the nerves. Left untreated, this is a terminal illness that moves quickly throughout the body. Left untreated, a typical life expectancy is 2 years old.  

It is an unrelenting disease that starts by taking away the few milestones that infants have gained in their short lives such as head control, the ability to sit and feed with a bottle. Krabbe proceeds to destroy the brain connections for limb control, swallowing and ultimately breathing. The process appears to be painful as infants with Krabbe are extremely colicky and their body tone is rigid at first, then floppy as the disease progresses. Blindness, deafness and seizures are all possible as the disease attacks. Raegan fell just short of her estimated 2-year-old lifespan and died at the age of 19 months on Feb. 1, 2004.   

In Oct. 2004, we discovered that we are expecting another child. Emotions were high as Krabbe is an autosomal recessive disease meaning both parents are carriers and there is a 25 percent chance their children could be born with the disease. When Dec. rolled around, we jumped at the chance to do an early test to find out if Zoey would have Krabbe as well. The test came back positive. We were broken on an emotional level that I didn't realize was possible. 

Yet, somehow Raegan was still working her magic. All of our research when she was alive prepared us for how to get Zoey the treatment she needed to thrive.  Zoey was 4 weeks early and received an umbilical cord transplant. The process was grueling. At 18 days old, Zoey went through 10 days of intensive chemo followed by “transplant day” which is a bag of cord blood cells that are infused via IV into Zoey’s system. We spent 40 days in the hospital while we waited for her body to accept the new cells and give them a chance to replace a missing enzyme. There have been setbacks along the way (such as blood infections, graft vs. host, adrenal insufficiency), but 17 years later, Zoey is shining her bright light throughout the world.  

From the transplant viewpoint, Zoey has done remarkably. However, the problem with Krabbe disease, is it causes damage before these kids ever leave the safety net of the womb. Zoey was no exception to this rule. The biggest obstacles are tightness and spasticity, specifically in her lower extremities. As Zoey has grown, that tightness and spasticity has increased as well.   

Through it all, Zoey has maintained her ability to walk with the use of a walker. Eventually, however, the tightness became debilitating enough that we had to make a big decision – proceed with a multi-level surgery to help preserve her ability to walk. Zoey chose the surgery so she could retain her mobility. We were referred to Gillette Children’s and Dr. Tom Novacheck. The surgery consisted of cutting both bone and tendon, then realigning and loosening and screwing everything back together. After surgery, we’ve never looked back.  

Zoey’s first surgery went beautifully, and she was back up and walking within months. She has better balance, better alignment, better independence and a new sense of hope. She recently had a second surgery to correct some hyperextension in one of her legs, release a little more tightness and relocate her rectus femoris on both sides.   

Zoey has had to fight hard her entire life to do things that other people never even have to think about –like walk and talk. Because she must work so hard, she doesn’t take anything for granted. She is happy basically all the time and seeing her smile is contagious. She loves to joke around with her friends and teachers and loves swimming and crafts. Most of all, Zoey loves people. She doesn’t want people to see her differently, she just wants people to see her for who she is. Once you meet Zoey, she is impossible to forget.