Kristin 2021
克里斯汀·蕾切尔·弗朗西斯·博克, age 22, 平静地滑入她的怀抱
与丙酸血症终生抗争后的天父. 在她的一生中
克里斯汀克服了身体和精神残疾的许多障碍，热爱生活
世界尽收眼底. 克里斯汀是个很快乐的孩子，希望大家都在一起,
做饭和玩她的车, 会说话的动物或谜题. 对克里斯汀来说，每一天都是
美好的一天，她的笑容给周围的人带来了欢乐.
克里斯汀喜欢户外活动, 国家, 尤其是去海滩旅行感受一下
海风拂过她的脸庞，聆听海鸥的叫声. 克里斯汀被包围了
家里有很多她喜欢的动物. 她的拉布拉多犬时刻注视着
她和很少出现在视线之外. 她是克利福德的忠实粉丝, 埃尔莫, Blues Clues, 小的
熊并挥舞着发光的光剑. 很有音乐感, 克里斯汀喜欢钢琴,
鼓, 手风琴和嗡嗡声, 但克里斯汀最喜欢的活动是看
听她最喜欢的U2音乐会, 越大越好. 我们爱你克里斯汀, 你
永远是我们的海龟女孩.
Kristin, 很难相信这是十四岁年来，在你出生. Texas did not screen for propionic acidemia in 1999, 我们发现硬盘的方式，当你五个月大. 你的第一个代谢危机登陆我们的家人在急诊室对你哥哥的第三个生日, 但当时医生只想到你有一个病毒. 经过静脉输液和葡萄糖三天他们送我们回家. 我们仍然不知道你在这一点上有PA，继续喂你高蛋白的Similac. 在接下来的一周，你就开始与缺乏情感下坡着呢, 极目远眺, 和持续呕吐. 到时候你滴溜溜你的头来回你的儿科医生打电话告诉我们你有PA. 幸运的是谁检查你的医生ER已下令有机酸测试 10 日前或我们仍然不知道发生了什么事给你. 我想，开始了最艰难的旅程你爸爸和我想象.
当我们把你从医院回家你跛行, 感情，也没有上身力量. 你已经失去了你解除你的武器能力, 你的头不稳宛若新生, 你在腰部以上以失败告终. 你的皮肤非常苍白, 我曾与你形成这种心理联系不见了. 我不知道你是谁了. 我失去了我的女儿, 我不知道你会不会回来. 这是看待一个很难的事情, 日复一日. 但随着时间的推移, 有很大的耐心, 治疗和正常播放, 你已经成长为一个非常漂亮的小姐，谁可以做很多事情，我们最初以为你可能永远不会做. 虽然你不走, 您爬行或在家里到处都是膝盖走路, 与玩拼图, 音乐玩具和仪器, 您的迷你计算机和通信设备, 你喜欢唱歌与任何人的歌曲. 您现在已经没收了大部分的哥哥的旧玩具, 和你最好玩的游戏，这些天跨越与别人地板缩放卡车或风火轮汽车, 或摆动你的星球大战周围的光线军刀! 您喜爱的节目继续克利福德, 小熊, Zoboomafoo和素食故事. 你爱到外面去, 走在面包车游乐设施和弹钢琴. 你最喜欢的DVD演唱会是U2波诺演唱美好的一天. 你会站在你的膝盖在屏幕前与你脸上灿烂的笑容，然后拉你的衬衫了在你的头上，当波诺上台唱歌. 我的天啊, 如果你是 “normal” 我可能在我的手上野孩子你变成一个十几岁!
多年来你PA的饮食和吃药都改变了不少. 你不再对反diuretc激素去氨加压素，因为我们发现, 再硬的方式, 你没有尿崩症. 这是在年龄错误的诊断 4 并以某种方式六年你设法对可能杀了你的药物做的很好. At age 10 你开始有癫痫发作，每个人都感到不解. 你从来没有发作，在过去. 最后, 我们意识到你没有足够的钠在你的饮食和一些测试后，确定您的肾脏工作得很好，你也没必要去氨加压素. 你真的震惊了医生与一个. 一位医生说你包裹在一个谜益智盒子里面是一个谜! 你还承担了多项其目的是补充营养，以帮助缓解氧化应激或提高能源产量. 论文包括复合维生素B, 高剂量的生物素, 辅酶Q10, 维生素E, 琥珀酸钠和L-肉碱. 我们也给你维生素D3和额外的钙.
一旦您量身定制的G-管饮食，多年来，包括格柏蔬菜, 水果和谷物被换下一个几年前与Propimex-2的合成配方组合, PROSOBEE和Polycose. 这种饮食应该把事情简单化 , 而是具有复杂的护理. 除了获得更多的非必要重, 你的新的饮食取得了你的皮肤看起来更苍白了，除非我们能够拿到外面你在阳光下了很多. 你是你的一个含有复合碳水化合物的饮食老更稳定 (麦片) 与包含Polycose或溶胶碳水化合物的新的饮食. 我敢肯定你的血糖保持在一个更均匀燕麦不是一个简单的血糖水平，导致你的血糖秒杀每 2 当你在白天推喂养小时. 主要的问题是，让你稳定，酮免费我们不得不增加更多的卡路里比我们想和你已经得到了相当沉重. 你总是很容易发胖, 但这种合成饲料造成您获得最. 已经开发了如你变老的另一个问题是，在蛋白质的增加，需要热量的增加或你生病. 这是一种讽刺的是，在年龄 14 我们理解你的好多了, 但是，它需要更多的摆弄你的饮食，让你稳定. 也许，这是青春期的伴侣?
好, Kristin, 你现在是一个十几岁, 我们正在进入另一个黑匣子, 一个真正的未知. 我希望你继续保持稳定和快乐，一旦激素开始真正循环. 我希望你调整好你弟弟动过上大学一年左右. 你爱你的兄弟这么多! 什么是你爸爸和我应该做的，当埃里克是不是在这里说 “黑夜，黑夜克里斯汀!” 作为您签收上床? 你已经需要海拉明和褪黑激素睡不好觉. 我们可能要做见面时间! 甜蜜的梦南瓜, 我们爱你.
No one can be prepared for the arrival of a special needs child. When you came
into the world on Sept. 28, 1999 our family rejoiced at your birth and I marveled at God’s newest creation. You were so big, 8lb. 14oz., and had a head full of beautiful dark hair! Dad and big brother Eric (2 1/2 years) helped take you home and we were satisfied our family was now complete. You were a good nurser, but on the third day at home you began to reflux after you ate. Our pediatrician reassured us it was just normal baby stuff, but something inside me felt wrong. Two months passed and although you were growing and developing the constant refluxing made things so difficult. Since I was nursing you I didn’t know how much you were really eating, and sometimes after you threw up you were just too tired to nurse any more. It seemed to me that you were reacting to everything I ate that was spicy, so I limited myself to a bland diet to try to help. It didn’t.
You were also so sleepy. At first I was happy that you actually slept 6-7 hours at night, unlike your brother who had me up every 2 hours at the beginning. But this also turned to concern as you only wanted to nurse 5 times a day and took a 3-hour nap in the afternoon. We were advised to let you eat and sleep on your own schedule, but again I felt something was wrong. I just didn’t know what. You were not quite as active as your brother had been, and you didn’t smile as much as Eric at the same age, but everyone just thought it was a difference in children.
When Christmas arrived in 1999, you were 3 months old. We had a large family gathering and you caught a bad cold. The congestion made you so miserable, you threw up all the time because you couldn’t clear the mucus and looking back I can see that this is when you first started sliding downhill. Antibiotics helped clear the lung infection, but you were getting so little milk from nursing I couldn’t believe you were still growing. You were at 75% for height and 50% for weight, almost like your brother had been. This stumped the doctors in retrospect, because PA kids “aren’t supposed to grow that well.” The nursing by now was tearing me apart because I knew there was something wrong with my milk. I had intended to nurse you for a year like Eric, but I was getting desperate. One day you would nurse really well, but then throw it all up, then the next day you would nurse so little. We were on a roller coaster ride and the only way I could see to stop it was to wean you and put you on Similac which I could measure. That way if you threw up, I could make another bottle and give it to you. I tried feeding you rice cereal but it made you constipated for almost a week. At your 4-month checkup, when you still convinced the doctors there was nothing wrong, I told your pediatrician I was going to wean you early. That’s when our lives changed forever.
My dearest angel, if I had only known you were reacting to the protein in my milk I would have never given you Similac. At first I was so relieved when you chugged it down. After one day you had decided the bottle was OK, and began drinking more at each meal. It seemed to perk you up and I thought this was the solution at last. Why hadn’t I done it sooner? But no sooner had that hope appeared when it was suddenly dashed to pieces. It was Feb. 24, 2000, Eric’s birthday and 6 days after I had switched you to Similac. Your big brother was turning 3! After all the confusion and readjusting during the past 6 months we were finally going to have a celebration. That morning, 但, was anything but a celebration. You awoke crying which was very unusual. Then you threw up 3 bottles in the morning and just wanted to sleep. You were almost 5 months old. As we were getting ready for Eric’s party, something told me you were in trouble. I didn’t know what, but you were definitely acting lethargic and looked like you were feeling bad. We rushed to the emergency room at Children’s Hospital of Austin, and after 2 hours of waiting we were finally seen by the physicians. Thank God you had been taking a bit of Pedialyte while we were there. You were so lethargic. The ER doctors kept pinching your skin and looking at you in a funny way. You were so dehydrated they said. But you had only thrown up that morning . . . it didn’t make sense. It took 6 hours to get an IV in you. It was a nightmare. Your veins kept blowing, and it took 12 tries before they finally got one to hold. You had a spinal tap and you didn’t even cry. It was to your good fortune that the ER doctor had the foresight to order organic acid tests that night, because I know now even he didn’t think you had meningitis. After 3 days in the hospital you seemed to be yourself again, and you looked so much fuller in the face and body. You were finally well hydrated. The doctors said you had an intestinal bug, no big deal. So we went home and put you right back on Similac.
Over the next 9 days you started to go downhill again. You began to interact with us less, smile less, and just had less energy. You began throwing up more, and a trip to the pediatrician only led us to giving you Lactofree. That helped for a day or two, then we tried Prosobee. Again the diet change seemed to help, but by day 8 you started staring around the room and moving your head back and forth. It was then that I got scared. I knew something was definitely wrong, and when we got to the pediatrician’s office, even the doctors agreed it was “either metabolic or neurological.” A call to the hospital revealed a diagnosis of propionic acidemia. I certainly wish it hadn’t taken 10 days to get the organic acid results back. Initially no one thought much about your ER visit. You didn’t have elevated ammonia, there was only a slight anion gap, and when you got back to baseline, everyone assumed you were fine. You were now immediately put on Carnitine and biotin supplementation. Our journey had started.
Two days later we found ourselves in the office of Dr. 斯图尔特K表. 沙皮拉, 医学博士, 博士. metabolic and genetics specialist at the University of Texas Health Science Center in San Antonio. You are so fortunate to be in his care, Kristin. He’s the most knowledgeable and caring physician I have ever met. The whole team is great. They are now part of our family. Patty Thomas R.D., L.D. is your wonderful dietician and she is always available for consultations. She’s tailored some interesting and creative diets for you! Like when you couldn’t get enough calories and formula because of your refluxing . . . we simply put you on Propimex-2 instead of Propimex-1. It cut out some volume and you were able to keep enough of it down. Remember when we added the flaxoil and lecithin to the Propimex-2? It really worked to keep everything in suspension at night in the bag. Marsha Zimmermann R.N. is Dr. Shapira’s nurse, and her smile and encouraging words are always so comforting when we go to San Antonio for your checkups. Since my parents are both deceased and we have no family close to help, I feel so fortunate to have been given this great group of people. Your first year was so hard, and I really missed my Mom’s help and advice.
My little girl, I can’t believe you are already a 2-year-old! You were hospitalized twice between 5 months and 7 months of age because we feared you were becoming acidotic from not eating enough. You were OK both times. You had a g-tube placement at 8 months when you simply decided you wouldn’t drink your formula any more and started becoming acidotic. A few weeks later this was replaced with a Mic-key g button. We have to bolus feed you during the day, and at night you are fed by a pump. Sometimes you eat a little bit of cereal or veggies, but only if I let you get too hungry and that’s not good for you right now. Your tummy certainly has become sensitive, because you can tell the difference immediately if I try to pump you too fast. Your stomach has been such an issue from the start! At 15 months when you were in the hospital for an RSV infection, you couldn’t keep anything in your stomach for 6 days. Your little esophageal muscle was just too weak and never got stronger. You were also in such need of more liquid each day. At that time we were strongly advised to let the surgeons perform a Nissen fundoplication so you could quit throwing up, keep your food down and stay hydrated. You really don’t like ketones.
Although it was the hardest decision to make for you, the Nissen surgery has literally changed your life and our lives as a family. You finally can get ALL the formula and water you need each day, and we can actually go places as a family without fear of you throwing up on someone. You have been to the beach and to your grandparents ranch numerous times since the surgery, and if you get queasy in the car I only have to attach your extension tube and syringe like a radiator overflow looped under your leg. It’s amazing how it helps you. We’ve also learned that most of your gagging is simply due to air or mucus in your stomach. As long as we “burp” you well before and after eating you are fine. Colds, 但, are still hard on you.
Your diet now consists of Propimex-2 70g, Prosobee 110g, lecithin 1 tbl., and flaxoil 15ml brought up to 30 oz. with water. This gives you a total of 2.5g protein/kg body weight. Your PCC enzyme analysis indicated you had between 4 和 14% enzyme activity, so you tolerate more protein. You also get cereal, veggies, and fruit which I mix with your formula boluses. You are on biotin 1mg/day and Carnitor 18ml/day. We supplement you with a B vitamin complex, multivitamin iron, folic acid 1mg/day, coenzyme Q-10 50mg/day, DHA 100mg and vitamin E 400i.u. Once a week I give you a little extra chromium. 此外, you keep asking us for more water, so you get another 30 oz of water each day. I know you are hydrated!
My little overcomer, you have come so far since your attack at 5 months. When we first brought you back from Dr. Shapira’s office, I thought I was looking at someone else. You were so pale, so limp, you couldn’t lift your head, move your arms or roll over. You slumped in your chair swing and couldn’t sit at all. In all reality you had died. My baby was gone and replaced by someone I didn’t know. It took a long time to get to the point of seeing past the physical, to the real you. Now your Daddy and I work on bringing you back, and I know you feel that love. You and your brother Eric clown around and make us laugh. You two are so bonded to each other. You can now sit, clap hands, laugh, play with toys, crawl, stand with help and before long we know you will be walking. We can’t wait for that because you are 38 inches tall and weigh over 17 kg. You are our barbells! You also have a variety of hand gestures and vocal sounds to tell us what you want. Recently you have been able to say mama, papa, up, go, ba (for ball) and a number of consonant and vowel sounds. You are precious to us. We love you so much, Kristin. You have changed our lives, and without you I would never have thought we could rise above so many obstacles. We thank God for all the direction, support and guidance He’s given us during the past 2 years. Your smile and trust in us makes us want to fight for you all the more.
We love you,
Mommy and Daddy
Russell, Janice, 埃里克和Kristin
