lily's story

My daughter, Lily Camilla Rodrigues, was born on April 7th, 2003. She grew healthily and developed naturally. Her spirit caught attention of the entire family. Her grandparents, aunts, uncles, and I were more proud every day with her progress. At three months she learned to smile, at 4 months she sat up on her own, at 6 months she began to crawl, and at 9 months, she attempted walking alongside a couch. I felt so blessed and never thought that things could get any better for her or me. A week before her first birthday, both of our lives changed dramatically.

On March 29th, 2004, Lily was admitted to the hospital. She woke up that morning and attempted to crawl, when her body fell limp and she went face first into her bed. For previous months, Lily had been throwing up for no apparent reason. The Doctor claimed it was normal “teething” or possible cold symptoms for a child her age. This particular morning, her vomiting was worse and seemed to cause her more distress. The Doctor’s had her admitted to the hospital for dehydration. A few hours later, Lily had a seizure. There were a few tests run, and her pediatrician concluded that Lily had been a victim of Shaken Baby Syndrome. I was interviewed by child protective services the following day. However, I knew and my family knew, that noone had beaten nor shaken my child. We had Lily transferred to Children’s Hospital in Denver.

At Children’s, it became obvious to them, after many recounts on my part of the days before Lily’s hospitalization, that Lily was suffering from something other than Shaken Baby Syndrome. After running a few more tests, we were informed that Lily might have a Metabolic Disorder. They were unsure of what type and were going to take blood and possibly other samples to have tests run in and outside the state to confirm the type of metabolic disorder. She would be transferred to ICU that evening to prevent her from losing her ability breathe.

The next morning, the Doctors confirmed that Lily had Glutaric Aciduria Type I. In a Care Conference held by Metabolic Specialists and Rehab Doctors from the hospital, I was told that Lily would be disabled for the rest of her life. They said that Lily had incurred brain damage due to the lack of enzymes in her system, which process certain proteins. When she became ill in January from the flu, this somehow triggered an overcompensation of Glutaric Acid for the missing enzymes and poisoned her brain. She would now need special care from her family, and that of Doctors and therapists. She would need a g-tube in order to feed correctly since her ability to swallow or eat would be effected. We were told that she would have to be on specific medicines to keep her muscle tone regulated and to also regulate her brain activity and glutaric acid level. I was heart broken.

However, I did not know the most heart breaking news. When Lily was born, her neonatal screening consisted of a test which would check for seven diseases or disorders. This test was the only mandated test by the State of Colorado. Unfortunately, this test did not include Glutaric Aciduria. What I learned through the staff at Children’s, is that any parent can ask for more screening other than the mandated tests, at the University of Colorado Health Science Center. The additional test can be performed to check for twenty-nine more disorders for only twenty-five dollars. Had I been informed of the extended testing at the University, Lily’s disease would have been detected, they would have put her on a special diet and kept “close-eye” on her if she became sick to prevent any brain damage. Most importantly, had Lily been screened, she would have gone on walking, talking, and playing like any other “healthy” and unaffected toddler. And, she would probably live a longer life, unlike kids with GA1 who statistically, die before adolescence.

It is my goal now to prevent any other baby or toddler to have to experience the devastating change which Lily has. Every parent should be informed and given the option to have the extended screening performed for their newborns. Had a Mother like myself come to me before Lily was born, and told me about the additional neonatal screening, I would have taken action.

Please pass the website on to any parent you can, or tell Lily’s story to anyone you meet. You will truly save a child’s life!

Thank you,

Sarah Kordis

about the lily foundation

The mission of the Lily Foundation is to raise awareness for expanded newborn screening across the United States and around the world. We perform media outreach to keep screening in the news and provide presentations to health care professionals, students, and parent groups.