Brave Bennie’s Battle with Chromosome 14Q Deletion


Bennie has been fighting for life since 6 weeks after conception. Mom was gravely ill and hospitalized the whole time. When Ben was born, he wasn’t breathing. He spent 48 hours on a ventilator. He spent 17 days in the NICU on oxygen and a […]

With an Organ Impairment and Five Hospitalizations Due to Glycogen Storage Disease Type 1A, Landin Waits To See A Liver Specialist

A rare genetic metabolic disorder centered in the liver, Glycogen Storage Disease can cause low blood sugar, an enlarged liver, failure to thrive, developmental delay, elevated lactate and uric acid levels in the blood and urine, and seizures.

Landin was born on June 15th 2010. It  was an amazing day, yet even at that time, we knew something was wrong. We immediately noticed he was breathing very fast and hard. They sent him to the neonatal intensive care unit (NICU), and the doctor […]

Bella Means Beauty, And Phelan-McDermid Syndrome Can’t Take That Away

Bella has Phelan-McDermid syndrome, a rare chromosomal disorder in which a part of chromosome 22 is missing.

Bella was born on a very cold, snowy day. I remember thinking, “Why isn’t she opening her eyes?” But no one seemed concerned, so I tried to focus on her perfect little face. That evening, she stopped breathing and was rushed away. It was difficult, […]

A Family’s Fight Against Carbamoyl Phosphate Synthetase Disease


Madison Sonja Van Leeuwe lost her battle against Carbamoyl Phosphate Synthetase in Madison Sonja Van Leeuwe was born on Christmas Day 2009 after a normal labor and delivery.  After an uneventful hospital stay, Madison was discharged home two days later.  Only a matter of hours […]