| 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 mesi) 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 prima del nostro previsto rilascio, il team di genetici che avevamo incontrato pochi giorni prima riguardo a Elise è entrato nella nostra stanza. Hanno indicato che pensavano che Mel potesse avere quello che pensavano che Elise avesse MMA o PA e che avesse sofferto di una crisi metabolica.. 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. All'epoca questo era il nostro unico figlio e dipendevamo dagli esperti per aiutarci a capire cosa stava succedendo al nostro bambino. Sia Mel che Elise si stanno sviluppando bene; 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. Aggiornare 3/2024
It has been 12 anni da quando abbiamo ricevuto la loro diagnosi, ed entrambi prosperano. Attribuisco il loro benessere a una variante decente dell'AP, vita sana e volontà di Dio. Non è popolare tra tutti, ma scegliamo di trattarli in modo più olistico attraverso integratori giornalieri (Aspirare, Olio di pesce, CoQ10, e Dose per il fegato) Entrambi assumono levocarnitina per aiutarli a purificarsi e una bassa dose di enalapril per prevenire problemi cardiaci noti nei pazienti con artrite reumatoide.. A parte questo cerchiamo di mangiare sano e di fare esercizio. In un certo senso è più facile che siano più grandi e comprendano come si sente il loro corpo quando consumano troppe proteine o se hanno il raffreddore e hanno bisogno di zuccheri extra per sentirsi meglio. In altri modi è più difficile non riuscire a controllare le porzioni e tenerli lontani da alcuni dei loro cibi preferiti. Mel è un'adolescente e sta per iniziare la scuola superiore. Ha molti amici, bretelle, un cellulare, ama le auto sportive, politica, videogiochi, ed è sempre il ragazzo divertente. Proverà qualsiasi cibo e affronterà una sfida con il cibo piccante. Inoltre, abbiamo altri due bambini fantastici che non hanno l'AP. Tuttavia hanno altre condizioni che ci tengono all’erta: Silvia (Fibrosi cistica) e Aston (Allergia alle arachidi). La nostra famiglia non permetterà mai a PA di definire chi siamo, è semplicemente qualcosa con cui abbiamo a che fare. Per adesso, sono bambini normali con uno stile di vita sano e legati per sempre da un miracolo che li ha tenuti insieme oltre le statistiche. Se c'è qualcuno che vorrebbe sapere di più su come la nostra famiglia gestisce la PA, siamo felici di condividere le nostre lezioni sulla difesa dei bambini, vita olistica, PGD IVF, Equilibrio cerebrale, o qualsiasi altra cosa: connettiamoci.
Mel & Nicole |
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