| 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, letargia, 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. Atualizar 3/2024
It has been 12 anos desde que recebemos o diagnóstico, e ambos estão prosperando. Atribuo seu bem-estar a uma variante decente de PA, vida saudável e a vontade de Deus. Não é popular com todos, mas optamos por tratá-los de forma mais holística através de suplementos diários (Aspirar, Óleo de peixe, CoQ10, e dose para o seu fígado) Ambos tomam levocarnitina para ajudá-los a limpar e uma dose baixa de enalapril para prevenir problemas cardíacos conhecidos em pacientes com PA.. Além disso, tentamos comer de forma saudável e fazer exercícios. De certa forma, é mais fácil para eles serem mais velhos e entenderem como seus corpos se sentem quando consomem muita proteína ou se estão resfriados e precisam de açúcar extra para se sentirem melhor.. Por outro lado, é mais difícil não conseguir controlar as porções e mantê-los afastados de alguns dos seus alimentos favoritos.. Mel é adolescente e está prestes a entrar no ensino médio. Ele tem muitos amigos, aparelho ortodôntico, um celular, adora carros esportivos, política, jogos de vídeo, e é sempre o cara engraçado. Ele experimentará qualquer comida e enfrentará um desafio de comida picante. In addition, temos outros dois filhos incríveis que não têm PA. No entanto, eles têm outras condições que nos mantêm alerta: Sílvia (Fibrose cística) e Aston (Alergia ao amendoim). Nossa família nunca deixará PA definir quem somos, é apenas algo com o qual lidamos. Por agora, são crianças normais com um estilo de vida saudável e conectadas para sempre através de um milagre que as manteve juntas além das estatísticas. Se houver alguém que gostaria de saber mais sobre como nossa família administra o PA, estamos felizes em compartilhar nossas lições em defesa das crianças, vida holística, DGP FIV, Equilíbrio cerebral, ou qualquer outra coisa – vamos conectar.
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.
