When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.
Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Amie Thompson from Greenwood met with us in the PICU room where Lucy was unconscious, and they shared the prognosis – the challenges, developmental delays, and the daily lifelong care required to keep Lucy from having more metabolic crises. They not only shared the knowledge and expertise that we needed to help Lucy, but they brought the support and strength our family needed when we felt lost (and the magic formula to keep Lucy alive!). They gave us hope that everything was going to be okay, and no matter what, they were going to be there with us, taking it a day at a time.
They stood by us in the coming months as we navigated blood draws, therapies, clinics, tube feeds, formula-mixing and measuring, and all the work required to help Lucy recover and keep her stable. They were responsive to every urgent issue that we faced and were tremendously helpful in giving personal advice as well. The most memorable example of this was during Lucy’s 9-month clinic appointment, when Dr. Champaigne strongly recommended that we take the route of liver transplantation as a treatment for Lucy’s MSUD. Her influence on this decision was invaluable.
The excellence of the care and attention Lucy has received from Greenwood Genetic Center is better than I could have ever imagined and exactly what anyone would want for his or her child in the same situation. We have always been able to count on Dr. Champaigne to advocate for our child in ways that are important and
meaningful to us, but also far-reaching. She has gone above and beyond to make vital, life-saving changes to the newborn screening process, and every time we were faced with an inpatient visit, she proactively communicated plans for Lucy’s treatment with the hospital to yield the best possible results. These things always gave us confidence that positive changes were happening, and that Lucy was going to be alright.
GGC’s commitment to research and their sincere interest in improving the quality of life for families and children faced with rare disease is outstanding. We just celebrated the 2-year anniversary of Lucy’s liver transplant! She is doing amazing. I am certain that the meticulousness of her care in the first two years of her life gave her exactly what she needed and prevented the potential side effects of MSUD. She is now a bright, happy 3-year-old living life to the fullest.
We are forever thankful for Greenwood Genetic Center and all they have done to give hope for babies and children with rare diseases. They have helped change the course of our life and completely expanded the possibilities for Lucy’s future.