​Maddy was born on October 31, 2013. She was a precious little bundle at 6lb 11 oz. Almost immediately she had really bad reflux, but we hoped it was just “normal” baby reflux. At two months old, she had her first fever and was diagnosed with a UTI. At 6 months, she had a staph infection on the back of her head which raised flags for the first time about her immune system.

By nine months, she was not rolling either direction, not attempting to crawl or move in any way, and could/would not weight bear at all. She was referred to Physical therapy. It was during this month that she was hospitalized for the first time. When she was being discharged we were told that her neutrophil count was critically low and we needed to follow up with our pediatrician two days later. Our pediatrician called us that night extremely concerned. Her count had dropped even lower to 147 (should be over 1500). He let me know that he had call hematology and we needed to be in their office at 9:00 the next morning. Her counts that morning were 30 and she was diagnosed with severe chronic neutropenia that would later be determined to be autoimmune neutropenia.

Over the next few months she continued to struggle with her gross motor skills and was getting sick frequently. She was also followed by GI for her reflux and slow weight gain.

At fifteen months, she was diagnosed with Mitochondrial Disease like her brother. It was also determined that she was not absorbing carbohydrates correctly. She finally started to crawl at this age.

At seventeen months, she was started on twice weekly shots to help her bone marrow produce neutrophils after frequent infections, ER visits and hospitalizations. Shortly after starting this replacement she was able to take her first steps with the assistance of orthotics and a walker.

At 22 months she took her first independent steps.

At 26 months we learned that her carbohydrate malabsorption was the result of not producing two of the enzymes necessary to break down sugars and starches.

Earlier this year she had a feeding tube placed to help get the proper nutrition into her.

She continues to go to therapy three times a week for both physical and occupational therapy. She still uses orthotics. She struggles to gain weight and has a limited diet. She has a weak immune system and struggles with fatigue. She takes multiple medications each day.