| 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. Cu puțin timp înainte de lansarea noastră așteptată, echipa de genetică cu care ne-am întâlnit cu câteva zile înainte despre Elise a intrat în camera noastră. Au indicat că au crezut că Mel ar putea avea ceea ce credeau că Elise are MMA sau PA și că a suferit o criză metabolică.. 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, letargie, not thriving, staring spells, wobbling, and acid breath. Acesta era singurul nostru copil și depindeam de experți care să ne ajute să ne dăm seama ce se întâmplă cu copilul nostru. Atât Mel, cât și Elise se dezvoltă bine.; 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. Actualizați 3/2024
It has been 12 ani de când le-am primit diagnosticul, și amândoi sunt înfloritoare. Eu atribui starea lor de bine unei variante decente de PA, viață sănătoasă și voia lui Dumnezeu. Nu este popular la toată lumea, dar optăm să le tratăm mai holistic prin suplimente zilnice (Aspira, Ulei de pește, CoQ10, și Doza pentru ficat) Ambii sunt pe levocarnitină pentru a-i ajuta să curețe și o doză mică de Enalapril pentru a preveni problemele cardiace cunoscute la pacienții cu PA.. În afară de asta, încercăm să mâncăm sănătos și să facem exerciții fizice. Într-un fel, este mai ușor să îmbătrânească și să înțeleagă cum se simte corpul lor când consumă prea multe proteine sau dacă sunt răciți și au nevoie de zahăr suplimentar pentru a se simți mai bine. În alte moduri, este mai dificil să nu poți controla porțiile și să le ții departe de unele dintre alimentele lor preferate. Mel este un adolescent și pe cale să intre în liceu. Are mulți prieteni, bretele, un telefon mobil, iubesc mașinile sport, politică, jocuri video, și este întotdeauna tipul amuzant. Va încerca orice mâncare și va accepta o provocare cu mâncare picant. În plus, mai avem doi copii minunați care nu au PA. Cu toate acestea, au și alte condiții care ne țin cu atenție: Silvia (Fibroză chistică) și Aston (Alergia la arahide). Familia noastră nu va lăsa niciodată PA să definească cine suntem, este doar ceva cu care ne ocupăm. Pentru acum, sunt copii normali, cu un stil de viață sănătos și conectați pentru totdeauna printr-un miracol care i-a ținut împreună dincolo de statistici. Dacă există cineva care ar dori să afle mai multe despre modul în care familia noastră gestionează PA, suntem bucuroși să împărtășim lecțiile noastre despre apărarea pentru copii, viaţă holistică, PGD FIV, Echilibrul creierului, sau orice altceva – să ne conectăm.
Mel & Nicole |
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