Kristin 2021
Kristin Rachel Francis Boecker, age 22, se deslizó pacíficamente en los brazos de ella
Nuestro Padre Celestial después de librar una batalla de toda la vida contra la acidemia propiónica. Durante su vida
Kristin superó muchos obstáculos de discapacidad física y mental y amó la vida en ella.
mundo al máximo. Kristin era una niña tan feliz y quería que todos estuvieran juntos,
a cocinar y jugar con sus carros, animales que hablan o rompecabezas. Para Kristin cada día era un
hermoso día y su sonrisa trajo alegría a todos los que la rodean.
Kristin amaba el aire libre, el país, y sobre todo viajes a la playa para sentir
la brisa del mar en su rostro y escuchar a las gaviotas. Kristin estaba rodeada de
muchos animales en casa a los que adoraba. Sus labradores vigilaban constantemente
ella y rara vez estaban fuera de la vista. Ella era una gran fan de Clifford, Elmo, Blues Clues, Poco
Oso y balanceando un sable de luz brillante. Siendo bastante musical, Kristin disfrutó del piano,
tambores, el acordeón y las melodías tarareantes, pero la actividad favorita de Kristin era mirar
y escuchando su concierto favorito de U2, cuanto más fuerte mejor. Te amamos kristin, usted
siempre será nuestra chica tortuga.
Kristin, es difícil creer que han pasado catorce años desde que naciste. Texas did not screen for propionic acidemia in 1999, y hemos encontrado que la forma más dura cuando era cinco meses de edad. Su primera crisis metabólica aterrizó nuestra familia en la sala de emergencias en el tercer cumpleaños de su hermano, pero en ese momento los médicos sólo se pensaba que tenía un virus. Después de tres días de líquidos por vía intravenosa de glucosa y nos enviaron a casa. Todavía no sabía que tenías PA en ese punto y seguido introduciendo te alta en proteínas Similac. Durante la semana siguiente comenzó a ir cuesta abajo de nuevo con una falta de emoción, mirando al vacío, y continua vómitos. En el momento en que estaban rodando la cabeza hacia atrás y hacia adelante a su pediatra llamó y nos dijo que tenía PA. Afortunadamente, el médico de urgencias que se examinó había ordenado pruebas de ácidos orgánicos 10 días antes o que todavía no hubiéramos sabido lo que estaba ocurriendo a usted. Supongo que empecé el viaje más difícil de su padre y que podría haber imaginado.
Cuando le llevamos a casa desde el hospital que eran floja, sin emociones y no tenía fuerza superior del cuerpo. Que había perdido su capacidad de levantar los brazos, su cabeza era inestable como un recién nacido, y el flop por la cintura. Su piel era muy pálida, y la conexión mental que había formado con que se había ido. Yo no sabía quién eras más. Había perdido a mi hija, y yo no sabía si iba a llegar de nuevo. Eso es una cosa difícil de ver, día tras día. Pero con el tiempo, con mucha paciencia, terapias y de reproducción normal, que ha crecido hasta convertirse en una dama muy bonita joven que puede hacer un montón de cosas que al principio pensamos que nunca podría hacer. Aunque no caminas, que se arrastran o la rodilla-caminar a todas partes en la casa, jugar con rompecabezas, juguetes e instrumentos musicales, su mini ordenador y dispositivo de comunicación, y te gusta cantar canciones con cualquiera. Ahora ha confiscado la mayor parte de los viejos juguetes de su hermano, y sus juegos más divertidos estos días están zumbando camiones o coches hot wheels por el suelo con alguien, o mover los Star Wars sable de luz en torno! Sus programas favoritos siguen siendo Clifford, Osito, Tales Zoboomafoo y Veggie. Te encanta salir a la calle, ir a pasear en la camioneta y jugar en el piano. Su concierto DVD favorito es U2 con Bono cantando Beautiful Day. Se pone de pie sobre sus rodillas delante de la pantalla con una gran sonrisa en su cara y luego tirar de su camisa sobre su cabeza y cantar cuando Bono entra en escena. Dios mío, si usted fuera “normal” Puede que tenga un niño salvaje en mis manos con que se convierta en un adolescente!
Con los años su dieta PA y medicamentos han cambiado un poco. Usted ya no está en la desmopresina hormona anti-diuretc porque nos dimos cuenta, de nuevo de la manera difícil, que usted no tiene diabetes insípida. Ese fue un mal diagnóstico en la edad 4 y de alguna manera durante seis años se las arregló para salir bien en una droga que podría haber matado a usted. At age 10 comenzó a tener convulsiones y todo el mundo estaba desconcertado. Usted nunca tuvo convulsiones en el pasado. Finalmente, nos dimos cuenta de que no tienes suficiente sodio en su dieta y después de algunas pruebas se determinó que sus riñones funcionaban bien y que no era necesario DDAVP. Que realmente sorprendió a los médicos con los que uno. Un médico dijo que usted es un enigma envuelto en un misterio dentro de una caja de rompecabezas! Todavía se toma una serie de suplementos nutricionales que están diseñados para ayudar a aliviar el estrés oxidativo o aumentar la producción de energía. Tesis incluyen las vitaminas del complejo B, biotina alta dosis, co Q10, vitamina E, succinato de sodio y L-carnitina. También le damos la vitamina D3 y calcio extra.
Su dieta una vez que la sonda de gastrostomía a medida que desde hace años incluía verduras Gerber, frutas y cereales fue reemplazado hace un par de años con una fórmula de mezcla sintética de Propimex-2, Prosobee y Polycose. Esta dieta se debe simplificar las cosas , pero en su lugar se ha complicado su cuidado. Además de ganar más peso un-necesario, su nueva dieta ha hecho que su piel se vea más claro a menos que manejamos para conseguir que fuera en el sol por mucho tiempo. Usted fue más estable en su vieja dieta que contenía un carbohidrato complejo (harina de avena) que la nueva dieta que contiene Polycose o Sol Carb. Estoy seguro de que el nivel de glucosa se mantuvo a un nivel más aún con la harina de avena de un azúcar simple que hace que su nivel de glucosa para cada pico 2 horas cuando usted está harto de bolo durante el día. El principal problema es que para mantenerlo estable y libre de cetona hemos tenido que añadir más calorías de las que nos gustaría y que ha conseguido bastante pesado. Siempre has ganado peso con facilidad, pero esta dieta sintética ha causado a obtener el máximo. Otro problema que se ha desarrollado más a medida que ha ido haciendo mayor es que cualquier aumento de la proteína requiere un aumento en calorías o estás enfermo. Es un poco irónico que a la edad 14 tenemos que entender mucho mejor, pero que se necesita más retoques con su dieta para mantenerse estables. Tal vez esto es un compañero de la pubertad?
Bien, Kristin, usted es ahora un adolescente, y nos estamos moviendo en otra caja negro, un verdadero desconocido. Espero que sigan a permanecer estable y feliz una vez que las hormonas comienzan realmente al ciclo. Y espero que se ajusta bien a su hermano en movimiento a la universidad en un año más o menos. Usted ama a su hermano tanto! ¿Cuáles son sus padre y se supone que haga cuando Eric no está aquí para decir “Nite-Nite Kristin!” como su cierre de sesión para ir a la cama? Usted necesita ya Benadryl y la melatonina para dormir bien. Puede ser que tengamos que hacer tiempo de cara! sueños dulces de calabaza, 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, sin embargo, 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, Doctor de Medicina, 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, sin embargo, 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 y 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 adición, 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 y Kristin
