| 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. Kurz vor unserer erwarteten Freilassung betrat das Genetik-Team, mit dem wir uns wenige Tage zuvor über Elise getroffen hatten, unser Zimmer. Sie gaben an, dass sie dachten, Mel könnte das haben, was sie dachten, Elise hätte MMA oder PA und er hätte eine Stoffwechselkrise erlitten. 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. Dies war damals unser einziges Kind und wir waren auf Experten angewiesen, die uns dabei halfen, herauszufinden, was mit unserem Baby geschah. Sowohl Mel als auch Elise entwickeln sich gut; 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. 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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