Infantile Onset Krabbe’s Disease: How His Brother Saved His Life

Our first born son, Stephen Alexander Mendoza, was born on September 8, 2009.

He was born perfectly healthy and too cute for words! Our new journey as a family started out absolutely great.  It was when our little peanut had his first cold that wouldn’t go away that our lives got turned upside down. We took baby Stephen to his Pediatrician for his cold and within ten minutes were told we need to rush him to the hospital, because Stephen wasn’t following the doctors finger when waived in front of his eyes. The doctor explained that something neurologically wasn’t connecting.

Within two hours we arrived at Children’s Hospital of Philadelphia. The doctors were clueless and began running different types of tests. Fourteen days later our precious baby boy was diagnosed with Infantile-Onset Krabbe’s Disease and we were informed that our son would live until the age of two. I’m sad to profess that our baby passed away at seven months due to heart failure. I am blessed to say that my little peanut is in Heaven and he’s where I want him to be.
Let me tell you something great! Baby Stephen saved his little brothers life. My husband, Alex and I had our second son, AJ, on September 1, 2011 . We had him tested for Krabbes Disease at birth and at the age of 7 days we got the test back positive for Infantile Onset Krabbe’s Disease. As we talked with our pediatrician about options for treatment we discovered a remarkable, amazing, fantastic, loving woman who had started a research team specializing in this rare neurological disease, Dr. Maria Escolar!

Because of her we were able to be in Pittsburgh when AJ was ten days young and admitted to CHOP after a series of tests at the age of fourteen days to start a low intensity chemotherapy for a bone & marrow transplant. Now this was an intense medical treatment and after four months AJ’s body rejected the donor blood but because of his brillant transplant doctor, Dr.Paul Szabolcs, we were able to do a second transplant. At nine months AJ was 97% donor and discharged from the hospital.

Now our toddler is three years old and keeping us on our toes! AJ receives speech, occupational, physical, developmental, and vision therapies. He is behind on scales of typically developing children but he is progressing at his own rate. He just about sits on his own without assistance for 60 seconds, he understands sign language and just recently started signing the word, more. He can feed himself with moderate support and stand with maxium support. God is good and AJ will do whatever he sets his mind to, we put no limitations on our sons life.