| Mel |
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My husband and I recently celebrated 15 years together which might not seem 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. Shortly before our expected release the genetics team which we had met with just days before about Elise entered our room. They indicated that they thought Mel might have what they thought Elise has MMA or PA and he had suffered a metabolic crisis. 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. This was at the time our only child and we depended on experts to help us figure out what was happening to our baby. Both Mel and Elise are developing well; 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. 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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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.
