Children's Hospital Colorado

How Children's Hospital Colorado Helped Samuel Overcome NEMO, a Rare Immune Deficiency

One mother's story of a quest for a diagnosis and a cure that was found at Children's

Dear Children's,

Headshot of Samuel smiling.Children's Hospital Colorado helped cure Samuel of NEMO - a rare form of immunodeficiency caused by a mutation of the NEMO gene.

My family was blessed with a little bundle of joy named Samuel in October of 2005, weighing in at just over three pounds. Samuel was born almost 10 weeks early and lived in the Neonatal Intensive Care Unit at a hospital in Albuquerque, New Mexico for almost five weeks. We finally got to bring him home just after Thanksgiving.

Around two months of age, I noticed Samuel had no color in his lips and we were still having trouble weaning him off of oxygen. We made an appointment with our pediatrician and soon learned Samuel was severely anemic and his other labs were a cause for concern. No one could give us an answer regarding his labs, so we were sent to another hospital to see hematology/oncology. Still, test after test, no doctor could tell us what was wrong with him.

I am a pediatric/neonatal Intensive Care Unit nurse, so my concern and anxiety was very high during those early months. In fact, I was so nervous about how Samuel was acting and looking, I had to speak with our Pastor. After an hour of discussion, he asked me what my gravest concern was and I told him I thought our son was going to die. At 5 months of age, he almost did.

Samuel ended up in the Pediatric Intensive Care Unit in hospital in Albuquerque with a very rare pneumonia. After many tests, the only thing we knew was that he had some type of immune deficiency - we just didn't know how severe it would be. Ten days into his hospitalization, he was stable enough to be transported to Children's Hospital Colorado in Aurora, Colorado, under the care of Dr. Ralph Quinones. Our family relocated to Denver for 10 weeks while Samuel was recovering, and while we were waiting for test results. Finally, the results came back - Samuel had a very severe and rare immune deficiency called NEMO (a variant of SCID).

We later found out that Samuel was only the 10th boy in the U.S. to be diagnosed with NEMO - a very rare form of immunodeficiency caused by a mutation of the NEMO gene. After many discussions and consultations, we headed back to Albuquerque with a sick little boy on a central line. Over the next year and a half, we traveled to Children's Hospital Colorado in Aurora every 3-4 weeks for clinic appointments and infusions. We knew the only hope for a cure was bone marrow transplantation, and in October of 2007, we learned of a perfect match for Samuel.

In November, we again relocated our family to Colorado, this time for four months. Samuel had his "new cells" transplanted on December 6, 2007. In March 2009, we were told that Samuel was cured of his immune deficiency!

I've visited other children's hospitals and after "living" at Children's Hospital Colorado for weeks and months, I found there is no comparison. From Radiology to Nutrition, to the Child Life Specialists, housekeeping, social workers, parking attendants, cafeteria workers and billing - to the INCREDIBLE staff of the Bone Marrow Transplant Program and the Hematology and Oncology Clinics -- Children's Hospital Colorado will always have a tender place in my heart. We owe so much to Dr. Ralph Quinones, not only for helping our son heal, but for also giving our family compassion and tenderness during the toughest time in our lives. You are all amazing and wonderful people!

With much gratitude,

The Dunbar Family (Will, Kelly, Casey, Samuel and Madeline)