| 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. 在我们预期的发布前不久，几天前我们就 Elise 的情况与我们会面的遗传学团队进入了我们的房间。他们表示，他们认为 Mel 可能患有他们认为 Elise 患有 MMA 或 PA 的疾病，并且他遭受了代谢危机. 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, 昏睡, not thriving, staring spells, wobbling, and acid breath. 当时这是我们唯一的孩子，我们依靠专家来帮助我们弄清楚我们的孩子发生了什么事。梅尔和伊莉斯都发育良好; 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. 更新 3/2024
It has been 12 自从我们收到他们的诊断以来已经有很多年了, 他们都在蓬勃发展. 我将他们的健康归功于 PA 的一个不错的变体, 健康的生活和上帝的旨意. 它并不受到所有人的欢迎, 但我们选择通过日常补充剂更全面地对待他们 (渴望, 鱼油, 辅酶Q10, 和肝脏剂量) 他们都服用左卡尼汀来帮助净化，并服用低剂量的依那普利来预防 PA 患者已知的心脏问题. 除此之外，我们尝试健康饮食和锻炼. 在某些方面，随着年龄的增长，他们更容易理解当他们摄入过多蛋白质或感冒并需要额外糖来感觉更好时身体的感受. 在其他方面，更难以控制份量并让他们远离一些他们最喜欢的食物. 梅尔是一名青少年，即将进入高中. 他有很多朋友, 大括号, 一个手机, 喜欢跑车, 政治, 视频游戏, 并且总是那个有趣的人. 他会尝试任何食物并接受辛辣食物的挑战. 此外, 我们还有另外两个很棒的孩子没有 PA. 然而，他们还有其他条件让我们保持警惕: 西尔维娅 (囊性纤维化) 和阿斯顿 (花生过敏). 我们的家人永远不会让 PA 定义我们是谁, 这只是我们要处理的事情. 目前, 他们是正常的孩子，有着健康的生活方式，并通过一个超越统计数据的奇迹永远地联系在一起. 如果有人想了解更多关于我们家族是如何管理PA的, 我们很高兴分享我们在倡导儿童权益方面的经验教训, 整体生活, 体外受精胚胎植入前诊断, 大脑平衡, 或其他什么 – 让我们联系.
Mel & Nicole |
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