Kristin 2021
Kristin Rachel Francis Boecker, age 22, caiu pacificamente nos braços dela
Pai Celestial depois de travar uma batalha ao longo da vida contra a acidemia propiônica. Durante a vida dela
Kristin superou muitos obstáculos de deficiência física e mental e amou a vida dela
mundo ao máximo. Kristin era uma criança tão feliz e queria que todos estivessem juntos,
cozinhar e brincar com os carros dela, animais falantes ou quebra-cabeças. Para Kristin, cada dia era um
lindo dia e seu sorriso trouxe alegria para todos aqueles ao seu redor.
Kristin amava o ar livre, o país, e principalmente viagens à praia para sentir
a brisa do mar no rosto e ouvir as gaivotas. Kristin estava cercada por
muitos animais em casa que ela adorava. Seus labradores mantinham um olhar sempre atento sobre
ela e raramente ficavam fora de vista. Ela era uma grande fã de Clifford, Elmo, Blues Clues, Pequeno
Carregue e brandindo um sabre de luz brilhante. Sendo bastante musical, Kristin gostou do piano,
bateria, o acordeão e melodias de zumbido, mas a atividade favorita de Kristin era assistir
e ouvir seu show favorito do U2, quanto mais alto melhor. Nós te amamos Kristin, tu
sempre será nossa menina tartaruga.
Kristin, é difícil acreditar que já catorze anos desde que você nasceu. Texas did not screen for propionic acidemia in 1999, e descobrimos que a maneira mais difícil quando você tinha cinco meses de idade. Sua primeira crise metabólica desembarcou nossa família na sala de emergência, no terceiro aniversário do seu irmão, mas naquela época os médicos só achei que você tinha um vírus. Após três dias de fluidos IV e glucose eles nos mandaram para casa. Nós ainda não sabia que você tinha PA naquele momento e continuou a alimentar você alta proteína Similac. Durante a próxima semana você começou a ir ladeira abaixo novamente com a falta de emoção, olhando para o espaço, e continuada vómitos. Com o tempo você estavam rolando a cabeça para trás e para a frente o seu pediatra chamou e nos disse que tinha PA. Felizmente o médico ER quem você examinou ordenou testes de ácidos orgânicos 10 dias antes ou que ainda não teria sabido o que estava acontecendo com você. Eu acho que começou a mais difícil jornada que seu pai e eu poderia ter imaginado.
Quando você trouxe para casa do hospital que estava flácido, emoção e não tinha força superior do corpo. Você tinha perdido a sua capacidade de levantar os braços, sua cabeça estava instável como um recém-nascido, e tombou na cintura. Sua pele estava muito pálido, ea conexão mental que eu tinha formado com que você se foi. Eu não sabia quem você era mais. Eu tinha perdido a minha filha, e eu não sei se você nunca iria voltar. Isso é uma coisa difícil de olhar, dia após dia. Mas ao longo do tempo, com muita paciência, terapias e tocar normalmente, de ter crescido em uma muito bonita jovem que pode fazer um monte de coisas que inicialmente pensou que nunca poderia fazer. Embora você não anda, você rastejar ou do joelho-pé em toda a casa, brincar com quebra-cabeças, brinquedos e instrumentos musicais, seu mini computador e dispositivo de comunicação, E você ama canções com alguém cantando. Você já confiscou a maioria dos brinquedos velhos do seu irmão, e seus jogos mais divertidos estes dias são o zoom caminhões ou carros Hot Wheels pelo chão com alguém, ou balançando o Star Wars sabre de luz em torno! Seus programas favoritos continuam a ser Clifford, Ursinho, Tales Zoboomafoo e Veggie. Você gosta de ir para fora, ir para passeios no van e jogar no piano. O seu concerto favorito DVD é U2 com Bono cantando Beautiful Day. Você vai ficar de joelhos na frente da tela com um grande sorriso em seu rosto e, em seguida, puxar sua camisa sobre sua cabeça e cantar quando Bono entra em cena. Meu Deus, se você fosse “normal” Eu poderia ter uma criança selvagem em minhas mãos com você se transformando em um adolescente!
Ao longo dos anos sua dieta PA e remédios mudaram um pouco. Você não está mais na DDAVP hormona anti-diuretc porque descobrimos, novamente da maneira mais difícil, que você não tem diabetes insípido. Isso foi um diagnóstico errado em idade 4 e de alguma forma por seis anos, você conseguiu fazer bem em uma droga que poderia tê-lo matado. At age 10 você começou a ter convulsões e todos estavam intrigados. Você nunca teve convulsões no passado. Finalmente, percebemos que você não tem o suficiente de sódio em sua dieta e depois de alguns testes, foi determinado seus rins funcionou bem e você não precisa de DDAVP. Você realmente chocado os médicos com aquele. Um médico disse que você é um enigma envolto em um mistério dentro de uma caixa de quebra-cabeça! Você ainda tomar uma série de suplementos nutricionais que são projetados para ajudar a aliviar o estresse oxidativo ou aumentar a produção de energia. Elas incluem vitaminas do complexo B, dose elevada de biotina, co Q10, vitamina E, succinato de sódio e L-carnitina. Nós também dar-lhe vitamina D3 e cálcio extra.
Seu uma vez dieta g-tubo feito sob medida que, durante anos incluídos legumes Gerber, frutas e cereais foi substituída um par de anos atrás, com uma fórmula mistura sintética de Propimex-2, Prosobee e Polycose. Esta dieta era para simplificar as coisas , mas em vez disso, tem complicado os seus cuidados. Além de ganhar mais peso precisava-un, sua nova dieta tem feito a sua pele olhar mais pálida a menos que consigamos levá-lo fora no sol muito. Você era mais estável em sua dieta de idade, que continha um carboidrato complexo (aveia) que a nova dieta que contém Polycose ou Sol Carb. Tenho certeza que sua glicose foi mantido a um nível ainda mais com farinha de aveia do que um açúcar simples que faz com que a glicose a espiga cada 2 horas quando você está bolus alimentados durante o dia. O principal problema é que para mantê-lo estável e cetona livre que tivemos para adicionar mais calorias do que gostaríamos e de ter obtido bastante pesado. Você sempre ganhou peso com facilidade, mas esta dieta sintética causou-lhe ganhar mais. Outro problema que se desenvolveu mais à medida que estou ficando mais velha é que qualquer aumento da proteína requer um aumento em calorias ou você está doente. É meio irônico que na idade 14 Entendemos que você muito melhor, mas que é preciso mais mexer com a sua dieta para mantê-lo estável. Talvez este é um companheiro da puberdade?
Bem, Kristin, você é agora um adolescente, e estamos nos movendo para uma outra caixa preta, um desconhecido reais. Eu espero que você continuar a ficar estável e feliz uma vez que os hormônios realmente começar a andar de bicicleta. E eu espero que você ajusta bem ao seu irmão se movendo para a faculdade em um ano ou assim. Você ama o seu irmão tanto! Quais são seu pai e eu deveria fazer quando Eric não está aqui para dizer “nite-nite Kristin!” como seu sinal de saída para ir para a cama? Você já precisa Benadryl e melatonina para dormir bem. Poderíamos ter que fazer Face Time! abóbora doces sonhos, nós te amamos.
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, contudo, 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, contudo, 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 e 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. In addition, 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 e Kristin
