| Elise |
My husband and I recently celebrated 15 years together which might not seem  like a long time for many, but we were around 15 years old at the time we met. Our lives were in perfect order; we completed college, secured great careers, married, and bought a beautiful home to grow our family. These were all things that we planned for before we decided to finally have children. We did not know at the time but God was preparing us for many upcoming challenges.Our PA story began in October 2011 when our daughter Elise (1 week) was thought to potentially have an organic acid disorder based on her newborn screening. Elise was home from the hospital for one week all the while eating and sleeping great when her pediatrician indicated that her screening returned with elevated levels. My husband and I were not alarmed because her older brother Melbourne (18 months) had the same elevated screening when he was born and then it was deemed normal based on the repeat test. While we awaited Elise’s second set of results little Mel woke one morning not wanting to eat/drink, was moaning and running a fever. His right side arms and legs seemed to be limp. We rushed him to urgent care where they indicated that they thought he was having a stroke/seizure. Mel was transported to Children’s Hospital of WI where a number of tests, spinal tap, x-rays, and brain scans were performed on him that day. The following day we were told that they did not know what the cause was and we could go home and he would be put on anti seizure medicines. Poco antes de nuestra esperada liberación, el equipo de genética con el que nos habíamos reunido apenas unos días antes sobre Elise entró en nuestra habitación. Indicaron que pensaban que Mel podría tener lo que pensaban que Elise tenía MMA o PA y que había sufrido una crisis metabólica.. After about a week in the hospital the diagnosis for Mel and Elise was confirmed; they both have PA. My husband and I had suspected something was going on with little Mel’s digestive system since he had terrible constipation and vomiting episodes since he was about 9 months old; when I stopped nursing and we put him on formula/milk. For nearly 9 months before his crisis we visited with multiple pediatricians, GI specialists, and ER visits to figure out what could be wrong. No one ever mentioned PA, and dismissed my asking if the vomiting/constipation had anything to do with his newborn screenings. We often think back to the signs and symptoms such as vomiting, gaging/choking, letargo, not thriving, staring spells, wobbling, and acid breath. En ese momento era nuestro único hijo y dependíamos de expertos para que nos ayudaran a descubrir qué le estaba pasando a nuestro bebé. Tanto Mel como Elise se están desarrollando bien.; Mel is walking/running (getting into boy trouble) and starting to speak, he self-eats and drinks well. Since his crisis we have been following the PA diet very close with a Propimex mix and 15-16grams of protein/day. Elise is getting ready to crawl, she says “mama, dada, baba, and me” she is eating and drinking wonderfully a mix of Propimex/breast milk, and solid fruits and vegetables. Both children are taking Biotin, Carnatine, TriViSol, and Flagyl. Our goals are to continue to closely monitor the kid’s diet to take every precaution to keep them healthy. We are researching and considering PGD/IVF and cord blood banking in hopes that our future children will not be affected and can supply Mel and Elise with a potential cure from the cord blood. I have been in touch with newborn screening advocates to find out how we can share our newborn screening failure story with others and changes are made in the processes so other families do not have to face the challenges that we have. As I stated earlier God chose us to protect these babies and we will continue to fight for them. Elise was brought into our lives to save her brother; just days after her birth her brother started to lose his fight with PA and because of her help the doctors were able to save his life. We feel that our children will always have a close bond with each other and this will be quite the story to share with them when they are older and learn to protect one another time and time again. Actualizar 3/2024
It has been 12 años desde que recibimos su diagnóstico, y ambos están prosperando. Atribuyo su bienestar a una variante decente de PA., vida saludable y la voluntad de Dios. No es popular entre todos., pero optamos por tratarlos de manera más integral a través de suplementos diarios. (Aspirar, Aceite de pescado, CoQ10, y Dosis para tu hígado) Ambos toman levocarnitina para ayudarlos a limpiarse y una dosis baja de enalapril para prevenir problemas cardíacos conocidos en pacientes con PA.. Aparte de eso, intentamos comer sano y hacer ejercicio.. En cierto modo es más fácil que sean mayores y entiendan cómo se siente su cuerpo cuando consumen demasiadas proteínas o si están resfriados y necesitan más azúcar para sentirse mejor.. En otras formas es más difícil no poder controlar las porciones y mantenerlas alejadas de algunas de sus comidas favoritas.. Mel es una adolescente y está a punto de entrar a la escuela secundaria.. Él tiene muchos amigos, tirantes, un celular, ama los autos deportivos, política, Juegos de vídeo, y siempre es el chico gracioso. Probará cualquier comida y aceptará un desafío de comida picante.. en adición, Tenemos otros dos hijos increíbles que no tienen PA.. Sin embargo, tienen otras condiciones que nos mantienen alerta.: Silvia (Fibrosis quística) y aston (Alergia al maní). Nuestra familia nunca permitirá que PA defina quiénes somos., es simplemente algo con lo que tratamos. Por ahora, son niños normales con un estilo de vida saludable y conectados para siempre a través de un milagro que los ha mantenido unidos más allá de las estadísticas. Si hay alguien que quisiera saber más sobre cómo nuestra familia maneja la PA., Estamos felices de compartir nuestras lecciones sobre la defensa de los niños., vida holística, FIV DGP, Equilibrio cerebral, o cualquier otra cosa – conectemos.
Mel & Nicole |
/