| 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. Pouco antes de nosso esperado lançamento, a equipe de genética com quem nos encontramos poucos dias antes sobre Elise entrou em nossa sala. Eles indicaram que achavam que Mel poderia ter o que achavam que Elise tinha MMA ou PA e que ele havia sofrido uma crise metabólica. 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. Na época, essa era nossa única filha e dependíamos de especialistas para nos ajudar a descobrir o que estava acontecendo com nosso bebê. Tanto Mel quanto Elise estão se desenvolvendo bem; 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. 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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