My name is Lesley Fandal, and I’m a working mom of 3 girls from Metairie, LA. My youngest daughter was diagnosed with Citrullinemia Type 1 in 2016 via Newborn Screening when she was 7 days old. Citrullinemia is one of six inherited urea cycle disorders. The severity of these disorders varies from patient to patient. We follow a low protein diet much like PKU. We also supplement with a special metabolic formula and take medication to keep blood ammonia levels in check. The diet and treatment are essential to prevent neurological damage, and metabolic crises resulting in death. When treated appropriately, persons with Citrullinemia can grow and develop normally, both physically and intellectually.
I became involved with the LMDC because I am hopeful about the future and possible treatments for these disorders. I also believe that Louisiana deserves a dedicated support community to share our journey and to feel less alone. When we were initially diagnosed, I felt alone and isolated and as if no one could possibly understand. Then I began to do my research and connected with others through Facebook. I’ve reached out and made contact with other families as far away as Australia and as close as Florida. I’ve learned so much and no longer feel alone. I would love to help a newly diagnosed family also get to that stage of acceptance.
My goal as a board member is to help raise awareness for inherited metabolic disorders as well as stress the importance of newborn screening in Louisiana. I had never heard of many of the disorders myself until we received our diagnosis and I think that there is a need for more education and public awareness. Our region is so unique in terms of our cuisine and culture and I hope that our organization can cater to the specific needs of our area and lifestyle.
Taking care of a child with a metabolic disorder can be very time consuming. To have a little “me time”, I participate at the local YMCA in taking dance fitness and Pilates classes. I enjoy the stress relief and have made many great friends. My girls also enjoy spending time in the kids’ room while I get a workout in, so it’s a win-win!