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Nico’s Story: Early Detection of Deadly Disease Gives Him ‘A Fighting Chance’

November 16, 2021

After experiencing higher than normal blood pressure in pregnancy and constant headaches, one night at 33 weeks pregnant, Jenna began throwing up and lost consciousness. She was rushed to her local hospital in Rockford, IL, where her medical team said that in order for Jenna and her baby to survive, she would need to deliver her baby boy prematurely.  

 

On August 9, 2021, Jenna and her partner Nick welcomed Nico seven weeks early.  

 

“He was in the NICU at Swedish American for a little over a week and we thought all the chaos was over. We were wrong,” remembered Jenna. 

 

A routine newborn screening test mandated by the Illinois Department of Public Health revealed devastating information: Nico had Krabbe disease, a neurological, inherited disorder that progressively destroys brain and nervous system nerve cells. Symptoms of Krabbe disease present typically before six months of age and can be devastating to a child and family.  

 

In 2007 Senator Dale Righter (R-Mattoon) and Rep. Joanne Osmond (R-Antioch) introduced and passed legislation that required the State to screen for Krabbe. For years, Lurie Children’s geneticist, Barbara Burton, MDGenetics, Birth Defects & Metabolism, advocated and worked with State legislators to include Krabbe disease in Illinois newborn screening. Krabbe began to be included in Illinois screening in 2017. 

 

Illinois is one of only nine states to test for Krabbe disease in newborn screening tests along with other certain genetic, metabolic and congenital disorders. Through a simple heel prick, health officials in Illinois test newborns for more than 40 disorders helping to diagnose infants early for proper medical interventions and treatments. The testing can have life-saving results. 

 

 

“Our reaction to the news was gut wrenching,” Jenna shared. “At first, we were in shock hoping that it was a fluke or some kind of mistake. Then, we grieved in a sense that we will more than likely not get to see our boy grow up and he will have to work extra hard just to have a fighting chance at life. We were terrified and depressed because the reality finally hit us that this is real, and we either need to get out of this rut and be strong for Nico or take this laying down. My mom kept telling me, ‘If Nico didn’t want to fight, he wouldn’t. We have to fight, too.’”   

 

After learning about Nico’s diagnosis, doctors at Swedish American in Rockford recommended Nico be transferred to Lurie Children’s, where a team of experts was ready to provide specialized care and find solutions for a safe, effective treatment.  

 

Fortunately, Nico was diagnosed before symptoms started – a crucial step to effectively treating his condition.  

 

“This disease progresses so quickly. By the time he shows symptoms, it is too late for any intervention,” Jenna said. “We are so very grateful that Illinois screens for Krabbe disease in newborn screening because if they did not, we would have never known." 

 

Thanks to Nico’s early diagnosis, he was a good candidate to undergo a stem cell transplant at Lurie Children’s, one of the only treatments for Krabbe disease. By replacing Nico’s cells with that of a donor’s, the stem cell transplant if successful can give Nico a better outcome and potentially prolong his life by slowing the progression of this deadly disease. Most children diagnosed with Krabbe die before the age of two. 

 

Krabbe disease is caused by deficiency of an enzyme called GALC,” said Tundun Williams, MD, Hematology/Oncology/Neuro-Oncology/Stem Cell Transplantation.GALC deficiency causes toxicity to cells that make myelin, the insulating sheath around nerves. A stem cell transplant is performed to replace this deficient enzyme. Nico is the youngest infant (by post-gestational age) to be transplanted for Krabbe disease at Lurie Children’s.” 

 

Now, at only three months old, Nico has been through more than most adults in their lifetime. While there have been setbacks, Nick and Jenna are hopeful for their baby boy’s future.  

 

“Our hopes for Nico are that he has a long life filled with love, gets to be a child, can run around, laugh and play, and just knows who has helped him to become the warrior he is today. Most importantly, I want him to know how strong he truly is and how his father Nick, our family and friends, and I are in complete awe over what he has accomplished and been through,” Jenna said. “He is an inspiration. Our hopes are we can have him as long as we possibly can. My one last hope for Nico is that we find a cure for Krabbe disease and we keep spreading awareness of this disease.” 

 

Throughout this difficult journey, Jenna and Nick have found tremendous support from their families and friends. A Facebook page, Nico’s Warriors, has been set up to provide updates about Nico.  

 

In just three short months, Jenna and her family have been overwhelmed with the love, support, care and prayer.  

 

Below is a note from Jenna to all those who are rooting for Nico and her family: 

 

So many people are rooting for him. We want to thank everyone who has fought this fight with us and our little Nico warrior. It does not go unnoticed. Thank you, Nick, for being an amazing father and companion throughout this rough patch in our lives. I love you. Thank you, momma, for everything you have done throughout this. Being my strength when I felt I had none. Thank you and Shaun for loving your family and your grand babies Savanna and Nico, and for just being you. You’re the best gram gram and pop pop. Thank you, Christopher, Vince, JR, Tara, Tia, and Savanna, for being so strong throughout this and we will bring Nico home and you will be able to see him finally. We love you. Thank you to Becca, Julie, Tim, Jimmi, Ros, nana, grandma and so many others for your help, love and perseverance and being there for us when we need someone to talk to. We love you. Thank you to all the warriors who have been fighting, praying and loving Nico along the way throughout this journey being supportive and encouraging. Thank you to our Krabbe families group. To everyone who liked his Nico’s Warriors Facebook page, thank you. To everyone who has been there, checked on us and helped to raise awareness on Krabbe disease, thank you. We appreciate it. You have no idea. 

 

Lurie Children’s NICU, stem cell, genetics, neurology and child life teams have supported us immensely through this journey. They have helped by making it a bit easier. I don’t have to worry about him constantly because I know he is in good hands. They gave Nico a successful stem cell transplant and all the love and care in the world. We want to give a huge thanks and shout out to all the NICU nurses who have taken care of Nico - Reygan, Kellie, Macy, Mary, Tina, Julianna, Meghan, Jen and so many more! To stem cell, thank you Kelsie, Kaitlyn, Cassie, Holly, and Dr. Williams for being there with us each step of the way during his transplant. Thank you Dr. Lautz for successfully performing surgeries on Nico. Thank you to the rest of the staff for making sure Nico is taken care of and loved constantly. 

 

To Nico, keep fighting this fight for us all. You’re an inspiration for many to come. We ALL love you. Go Nico go!”