Kristin 2021
Kristin Rachel Francis Boecker, age 22, scivolò pacificamente tra le sue braccia
Padre celeste dopo aver combattuto una battaglia per tutta la vita con l'acidemia propionica. Durante la sua vita
Kristin ha superato molti ostacoli della disabilità fisica e mentale e ha amato la vita in lei
mondo al massimo. Kristin era una bambina così felice e voleva che tutti fossero insieme,
per cucinare e giocare con le sue macchine, animali parlanti o puzzle. Per Kristin ogni giorno era un
bellissima giornata e il suo sorriso ha portato gioia a tutti coloro che le stavano intorno.
Kristin amava la vita all'aria aperta, Paese, e soprattutto gite al mare per sentirsi
la brezza marina sul viso e ad ascoltare i gabbiani. Kristin era circondata da
tanti animali in casa che lei adorava. I suoi labrador lo tenevano sempre d'occhio
lei ed erano raramente fuori vista. Era una grande fan di Clifford, Elmo, Blues Clues, Poco
Orso e brandendo una spada laser luminosa. Essendo piuttosto musicale, A Kristin è piaciuto il pianoforte,
batteria, la fisarmonica e le melodie canticchianti, ma l'attività preferita di Kristin era guardare
e ascoltando il suo concerto preferito degli U2, più forte è meglio è. Ti amiamo Kristin, tu
sarà sempre la nostra Tartaruga.
Kristin, è difficile credere che sono passati quattordici anni da quando sei nato. Texas did not screen for propionic acidemia in 1999, e abbiamo scoperto che il modo duro quando eravate cinque mesi di età. La vostra prima crisi metabolica è atterrato la nostra famiglia in un pronto soccorso sul terzo compleanno di tuo fratello, ma a quel tempo i medici pensato solo avessi un virus. Dopo tre giorni di fluidi IV e glucosio ci hanno mandato a casa. Ancora non sapevo che avessi PA in quel punto e ha continuato ad alimentare ad alto contenuto proteico si Similac. Nel corso della prossima settimana hai iniziato a scendere di nuovo con una mancanza di emozioni, sguardo perso nel vuoto, e continuo vomito. Con il tempo si stavano rotolando la testa avanti e indietro il pediatra ha chiamato e ci ha detto che avevi PA. Fortunatamente il medico di ER che si esaminato aveva ordinato test di acidi organici 10 giorni prima o che ancora non avremmo saputo cosa stava accadendo a voi. Immagino che iniziato il viaggio più difficile tuo padre e ho potuto immaginare.
Quando abbiamo portato a casa dall'ospedale si erano floscia, emozioni e non ha avuto la forza parte superiore del corpo. Lei aveva perso la capacità di sollevare le braccia, la testa era instabile come un neonato, e si floppato sopra in vita. La pelle era molto pallida, e il collegamento mentale che mi ero fatta con te non c'era più. Non sapevo che tu fossi più. Avevo perso mia figlia, e io non so se si sarebbe mai tornato. Questa è una cosa difficile da guardare, giorno dopo giorno. Ma nel corso del tempo, con molta pazienza, terapie e di gioco normale, sei cresciuto in una bella signora giovane che può fare un sacco di cose che inizialmente abbiamo pensato che potrebbe mai fare. Anche se non si cammina, strisciare o del ginocchio a piedi ovunque in casa, giocare con i puzzle, giocattoli e strumenti musicali, il vostro mini dispositivo di computer e di comunicazione, e ti piace cantare canzoni con nessuno. Ora avete confiscato la maggior parte dei vecchi giocattoli di tuo fratello, ei tuoi giochi più divertenti in questi giorni sono zumando camion o automobili ruote calde sul pavimento con qualcuno, o oscillare le Star Wars Light Saber intorno! I tuoi programmi preferiti continuano ad essere Clifford, Piccolo orso, Zoboomafoo e Veggie Tales. Tu ami andare fuori, andare per passeggiate nel furgone e suonare al pianoforte. Il tuo concerto DVD preferito è U2 con Bono canta Beautiful Day. Potrai stare in ginocchio davanti allo schermo con un grande sorriso sul tuo viso e poi tirare la camicia sopra la testa e cantare quando Bono entra in scena. Mamma mia, se tu fossi “normal” Potrei avere un bambino selvaggio sulle mie mani con voi trasformando in un adolescente!
Nel corso degli anni la vostra dieta PA e meds sono cambiate un bel po '. Non sei più sul DDAVP ormone anti-diuretc perché abbiamo scoperto, ancora una volta nel modo più duro, che non ha avuto il diabete insipido. E 'stata una diagnosi sbagliata all'età 4 e in qualche modo per sei anni è riuscito a fare bene su un farmaco che potrebbe aver ucciso. At age 10 si iniziato ad avere crisi epilettiche e tutti erano perplessi. Non hai mai avuto crisi epilettiche in passato. Finalmente, ci siamo resi conto non ha avuto abbastanza di sodio nella dieta e, dopo alcuni test è stato stabilito i reni funzionava bene e non hai bisogno DDAVP. È veramente scioccato i medici con quello. Un medico ha detto che sei un enigma avvolto in un mistero all'interno di una scatola di puzzle! È ancora adottare una serie di integratori alimentari che sono progettati per contribuire ad alleviare lo stress ossidativo o aumentare la produzione di energia. Tesi includono vitamine del complesso B, biotina alte dosi, co Q10, la vitamina E, succinato di sodio e L-carnitina. L'utente ha inoltre la vitamina D3 e calcio in più.
La vostra dieta una volta g-tube su misura che da anni comprendeva verdure Gerber, frutta e cereali è stato sostituito un paio di anni fa, con un mix formula sintetica di Propimex-2, Prosobee e Polycose. Questa dieta avrebbe dovuto semplificare le cose , ma invece ha complicato la vostra cura. Oltre a guadagnare più peso non necessari, la vostra nuova dieta ha fatto la pelle aspetto più pallido a meno che non riusciamo a farti fuori al sole molto. Eri più stabile sulla vostra vecchia dieta che conteneva un carboidrato complesso (fiocchi d'avena) che la nuova dieta che contiene Polycose o Sol Carb. Sono sicuro che il livello di glucosio è stata mantenuta a un livello più uniforme con farina d'avena di uno zucchero semplice che fa sì che il livello di glucosio a picco ogni 2 ore quando si è in bolo-FED durante il giorno. Il problema principale è che per mantenere stabile e chetone gratuito che abbiamo dovuto aggiungere più calorie di quanto vorremmo e si è ottenuto abbastanza pesante. Lei ha sempre guadagnato peso facilmente, ma questa dieta sintetico ha causato di guadagnare il più. Un altro problema che si è sviluppato più come hai ottenuto più vecchio è che qualsiasi aumento di proteine richiede un aumento di calorie o sei malato. È un po 'ironico che all'età 14 Vi capiamo molto meglio, ma che ci vuole più armeggiare con la vostra dieta per mantenere stabile. Forse questo è un compagno della pubertà?
Bene, Kristin, ora sei un adolescente, e ci stiamo muovendo in un'altra scatola nera, un vero e proprio sconosciuto. Spero di continuare a rimanere stabile e felice una volta che gli ormoni davvero iniziare a ciclo. E spero di regolare bene al vostro fratello in movimento fuori dalla scuola media in un anno o giù di lì. Tu ami il tuo fratello così tanto! Quali sono i vostri papà e ho dovuto fare quando Eric non è qui per dire “nite-nite Kristin!” come il vostro segno-off per andare a letto? È già bisogno Benadryl e melatonina per dormire bene. Potremmo avere a che fare Face Time! Sogni d'oro zucca, ti vogliamo bene.
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, tuttavia, 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, tuttavia, 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. Inoltre, 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 mesi. 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
