| 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. Peu avant notre sortie prévue, l'équipe de génétique que nous avions rencontrée quelques jours auparavant à propos d'Elise est entrée dans notre chambre. Ils ont indiqué qu'ils pensaient que Mel pourrait avoir ce qu'ils pensaient qu'Elise avait du MMA ou de l'AP et qu'il avait souffert d'une crise métabolique.. 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, léthargie, not thriving, staring spells, wobbling, and acid breath. C'était à l'époque notre unique enfant et nous comptions sur des experts pour nous aider à comprendre ce qui arrivait à notre bébé. Mel et Elise se développent bien.; 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. Mettre à jour 3/2024
It has been 12 années depuis que nous avons reçu leur diagnostic, et ils prospèrent tous les deux. J'attribue leur bien-être à une variante décente de l'AP, une vie saine et la volonté de Dieu. Ce n'est pas populaire auprès de tout le monde, mais nous choisissons de les traiter de manière plus holistique grâce à des suppléments quotidiens (Aspirer, L'huile de poisson, CoQ10, et dose pour votre foie) Ils prennent tous deux de la lévocarnitine pour les aider à se nettoyer et une faible dose d'énalapril pour prévenir les problèmes cardiaques connus chez les patients atteints d'AP.. En dehors de cela, nous essayons de manger sainement et de faire de l'exercice.. D'une certaine manière, il est plus facile pour eux d'être plus âgés et de comprendre ce que ressent leur corps lorsqu'ils consomment trop de protéines ou s'ils ont un rhume et ont besoin de plus de sucre pour se sentir mieux.. D'une autre manière, il est plus difficile de ne pas pouvoir contrôler les portions et de les éloigner de certains de leurs aliments préférés.. Mel est une adolescente et est sur le point d'entrer au lycée. Il a beaucoup d'amis, croisillons, un téléphone cellulaire, aime les voitures de sport, politique, jeux vidéo, et c'est toujours un gars drôle. Il essaiera n'importe quel aliment et relèvera un défi de cuisine épicée. en outre, nous avons deux autres enfants extraordinaires qui n'ont pas d'AP. Ils ont cependant d'autres conditions qui nous tiennent en haleine: Silvia (Fibrose kystique) et Aston (Allergie aux arachides). Notre famille ne laissera jamais PA définir qui nous sommes, c'est juste quelque chose que nous traitons. Pour l'instant, ce sont des enfants normaux avec un mode de vie sain et connectés pour toujours grâce à un miracle qui les a maintenus ensemble au-delà des statistiques. S'il y a quelqu'un qui aimerait en savoir plus sur la façon dont notre famille gère l'AP, nous sommes heureux de partager nos leçons en matière de défense des enfants, vie holistique, FIV DPI, Équilibre du cerveau, ou quoi que ce soit d'autre - connectons-nous.
Mel & Nicole |
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