Kristin 2021
Kristin Rachel Francis Boecker, age 22, se glissa paisiblement dans les bras d'elle
Père céleste après avoir mené une bataille de toute une vie contre l'acidémie propionique. Au cours de sa vie
Kristin a surmonté de nombreux obstacles liés au handicap physique et mental et a aimé la vie en elle
monde au maximum. Kristin était une enfant si heureuse et voulait que tout le monde soit ensemble,
cuisiner et jouer avec ses voitures, animaux parlants ou puzzles. Pour Kristin, chaque jour était un
belle journée et son sourire a fait le bonheur de tous ceux qui l'entouraient.
Kristin aimait le plein air, le pays, et surtout des sorties à la plage pour se sentir
la brise marine sur son visage et écouter les mouettes. Kristin était entourée de
beaucoup d'animaux à la maison qu'elle adorait. Ses labradors surveillaient toujours
elle et étaient rarement hors de vue. Elle était une grande fan de Clifford, Elmo, Blues Clues, Petit
Ours et balançant un sabre laser rougeoyant. Être assez musical, Kristin a apprécié le piano,
tambours, les airs d'accordéon et de bourdonnement, mais l'activité préférée de Kristin était de regarder
et en écoutant son concert préféré de U2, plus c'est fort, mieux c'est. On t'aime Kristine, tu
sera toujours notre Turtle Girl.
Kristin, il est difficile de croire qu'il a été quatorze ans que vous êtes né. Texas did not screen for propionic acidemia in 1999, et nous avons constaté que la manière dure quand vous étiez âgé de cinq mois. Votre première crise métabolique a atterri notre famille dans le ER sur le troisième anniversaire de votre frère, mais à cette époque, les médecins ne pensais que vous aviez un virus. Après trois jours de liquides IV et de glucose, ils nous ont envoyé la maison. Nous ne savions pas encore que vous aviez PA à ce moment-là et a continué à vous nourrir riche en protéines Similac. Au cours de la semaine prochaine vous avez commencé à descendre à nouveau avec un manque d'émotion, les yeux dans l'espace, et des vomissements suite. Au moment où vous étiez rouler votre tête en arrière votre pédiatre appelé et nous a dit que vous aviez PA. Heureusement, le médecin de l'urgence qui vous a examiné avait ordonné des tests d'acides organiques 10 jours avant ou nous avons encore aurions pas su ce qui se passait pour vous. Je suppose que cela a commencé le voyage le plus difficile de votre père et je aurais pu imaginer.
Lorsque nous vous avons apporté la maison de l'hôpital que vous étiez mou, impassibles et n'a pas eu la force du haut du corps. Vous aviez perdu votre capacité à lever les bras, votre tête était instable comme un nouveau-né, et vous floppé plus à la taille. Votre peau était très pâle, et la connexion mentale que j'avais formé avec vous était parti. Je ne savais pas qui vous étiez plus. J'avais perdu ma fille, et je ne sais pas si vous voulez jamais revenir. C'est une chose difficile à regarder, jour après jour. Mais au fil du temps, avec beaucoup de patience, thérapies et jeu normal, vous avez grandi dans une très jolie jeune femme qui peut faire beaucoup de choses que nous avons d'abord pensé que vous pourriez ne jamais faire. Bien que vous ne marchez pas, vous rampez ou genou marcher partout dans la maison, jouer avec des puzzles, jouets et instruments de musique, votre mini-dispositif informatique et de la communication, et vous aimez chanter des chansons avec tout le monde. Vous avez maintenant confisqué la plupart des vieux jouets de votre frère, et vos jeux les plus amusants ces jours zoomez camions ou voitures chaudes roues sur le sol avec quelqu'un, ou à balancer vos Star Wars Light Saber autour! Vos émissions préférées continuent d'être Clifford, Petit ours, Zoboomafoo et Veggie Tales. Vous aimez aller à l'extérieur, faire des randonnées dans la camionnette et jouer sur le piano. Votre DVD concert préféré est U2 Bono chante Beautiful Day. Vous tenir sur vos genoux en face de l'écran avec un grand sourire sur votre visage, puis tirez votre chemise au-dessus de votre tête et chanter quand Bono vient sur scène. Mon Dieu, si tu étais “normal” Je pourrais avoir un enfant sauvage sur mes mains avec vous transformer en un adolescent!
Au fil des années, votre régime de PA et de médicaments ont un peu changé. Vous n'êtes plus sur le DDAVP hormone anti-diuretc parce que nous avons découvert, encore une fois à la dure, que vous ne souffrez de diabète insipide. Ce fut un mauvais diagnostic à l'âge 4 et en quelque sorte pendant six ans vous avez réussi à faire bien sur un médicament qui aurait pu vous tuer. At age 10 vous commencé à avoir des convulsions et tout le monde était perplexe. Vous jamais eu des crises dans le passé. finalement, nous avons réalisé que vous n'avez pas assez de sodium dans votre alimentation et après quelques tests, il a été déterminé vos reins fonctionnaient bien et vous ne devez DDAVP. Vous avez vraiment choqué les médecins avec celui-là. Un médecin a dit que vous êtes une énigme enveloppée dans un mystère dans une boîte de puzzle! Vous prenez encore un certain nombre de suppléments nutritionnels qui sont conçus pour aider à soulager le stress oxydatif ou d'augmenter la production d'énergie. Thèses comprennent les vitamines du complexe B, biotine haute dose, Co Q10, la vitamine E, succinate de sodium et la L-carnitine. Nous vous donnons également de la vitamine D3 et de calcium supplémentaire.
Votre fois g tube alimentation sur mesure que pour les années inclus légumes Gerber, les fruits et les céréales a été remplacé il y a quelques années avec une formule synthétique de mélange Propimex-2, Prosobee et Polycose. Ce régime était censé simplifier les choses , mais il a compliqué vos soins. En plus d'acquérir plus de poids non nécessaire, votre nouveau régime a fait votre peau plus pâle que si nous parvenons à vous sortir au soleil beaucoup. Vous étiez plus stable sur votre ancien régime qui contenait un glucide complexe (flocons d'avoine) que le nouveau régime qui contient Polycose ou Sol Carb. Je suis sûr que votre taux de glucose a été maintenue à un niveau plus uniforme à l'avoine qu'un sucre simple qui provoque votre glycémie à pic chaque 2 heures lorsque vous bolus nourris pendant la journée. Le principal problème est que pour vous garder stable et cétone libre, nous avons dû ajouter plus de calories que nous aimerions et vous avez obtenu assez lourd. Vous avez toujours gagné du poids facilement, mais ce régime synthétique vous a fait gagner le plus. Un autre problème qui a développé plus que vous avez obtenu plus âgé est que toute augmentation des protéines nécessite une augmentation des calories ou vous êtes malade. Il est assez ironique que, à l'âge 14 nous vous comprenons bien mieux, mais qu'il faut plus bricoler avec votre régime alimentaire pour vous garder stable. Peut-être cela est un compagnon de la puberté?
bien, Kristin, vous êtes maintenant un adolescent, et nous entrons dans une autre boîte noire, une vraie inconnue. J'espère que vous continuez à rester stable et heureuse une fois que les hormones commencent vraiment à vélo. Et je l'espère vous ajustez bien à votre frère se déplaçant au collège dans un an ou. Vous aimez votre frère tellement! Quels sont vos père et je dois faire quand Eric est pas ici pour dire “nite-nite Kristin!” comme votre signe-off d'aller au lit? Vous devez déjà Benadryl et de la mélatonine pour bien dormir. Nous pourrions avoir à faire Face Time! Sweet dreams citrouille, nous t'aimons.
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, cependant, 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. Stuart K. Shapira, M.D., Ph.D. 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, cependant, 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 et 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. en outre, 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, Eric et Kristin
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