| 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 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. 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, Lethargie, 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. Aktualisieren 3/2024
It has been 12 Jahre her, seit wir ihre Diagnose erhalten haben, und es geht ihnen beiden gut. Ich führe ihr Wohlbefinden auf eine anständige Variante von PA zurück, gesundes Leben und Gottes Wille. Es ist nicht bei jedem beliebt, Wir entscheiden uns jedoch für eine ganzheitlichere Behandlung durch tägliche Nahrungsergänzungsmittel (Streben, Fischöl, CoQ10, und Dosis für Ihre Leber) Sie nehmen beide Levocarnitin ein, um die Reinigung zu unterstützen, und eine niedrige Dosis Enalapril, um bekannten Herzproblemen bei PA-Patienten vorzubeugen. Darüber hinaus versuchen wir, uns gesund zu ernähren und Sport zu treiben. In mancher Hinsicht ist es einfacher, wenn sie älter sind und verstehen, wie sich ihr Körper fühlt, wenn sie zu viel Protein zu sich nehmen oder wenn sie erkältet sind und zusätzlichen Zucker benötigen, um sich besser zu fühlen. Auf andere Weise ist es schwieriger, die Portionen nicht kontrollieren zu können und sie von einigen ihrer Lieblingsspeisen fernzuhalten. Mel ist ein Teenager und steht kurz vor dem Eintritt in die Highschool. Er hat viele Freunde, Zahnspange, ein Mobiltelefon, liebt Sportwagen, Politik, Videospiele, und ist immer der lustige Typ. Er probiert jedes Essen und stellt sich der Herausforderung „scharfes Essen“.. Außerdem, Wir haben zwei weitere tolle Kinder, die keine PA haben. Sie haben jedoch andere Bedingungen, die uns auf Trab halten: Silvia (Mukoviszidose) und Aston (Erdnussallergie). Unsere Familie wird niemals zulassen, dass PA definiert, wer wir sind, Es ist einfach etwas, womit wir uns befassen. Zur Zeit, Sie sind normale Kinder mit einem gesunden Lebensstil und für immer verbunden durch ein Wunder, das sie über alle Statistiken hinaus zusammengehalten hat. Falls es jemanden gibt, der mehr darüber erfahren möchte, wie unsere Familie mit PA umgeht, Wir freuen uns, unsere Lektionen in der Fürsprache für Kinder weiterzugeben, ganzheitliches Leben, PGD IVF, Gehirnbalance, oder was auch immer – lass uns verbinden.
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.
