Kristin 2021
Kristin Rachel Francis Boecker, age 22, s-a strecurat pașnic în brațele ei
Tatăl Ceresc după ce a purtat o bătălie de-a lungul vieții cu acidemia propionică. În timpul vieții ei
Kristin a depășit multe obstacole ale handicapului fizic și mental și a iubit viața în ea
lumea la maxim. Kristin era un copil atât de fericit și dorea ca toată lumea să fie împreună,
să gătească și să se joace cu mașinile ei, animale vorbitoare sau puzzle-uri. Pentru Kristin, fiecare zi a fost o
o zi frumoasă și zâmbetul ei a adus bucurie tuturor celor din jur.
Kristin iubea exteriorul, tara, și mai ales excursii la plajă pentru a simți
briza mării pe fața ei și să asculte pescărușii. Kristin era înconjurată de
multe animale acasă pe care le adora. Labradorii ei au urmărit mereu
ei și rareori erau în afara vederii. Era o mare fană a lui Clifford, Elmo, Blues Clues, Mic
Urs și leagănând o sabie de lumină strălucitoare. Fiind destul de muzical, Kristin se bucura de pian,
tobe, acordeonul și melodiile fredonante, dar activitatea preferată a lui Kristin era privirea
și ascultând concertul ei preferat de U2, cu cât este mai tare cu atât mai bine. Te iubim Kristin, tu
va fi întotdeauna Fata noastră Testoasă.
Kristin, este greu de crezut că a fost paisprezece ani de când te-ai născut. Texas did not screen for propionic acidemia in 1999, și am constatat că calea cea mai grea când aveai cinci luni. Prima ta criza metabolice a aterizat familia noastră în ER pe a treia zi de naștere a fratelui tău, dar la acel moment medicii crezut ca doar ai avut un virus. După trei zile de fluide IV si glucoza ne-au trimis acasă. Noi încă nu am știut că ai PA la acel moment și a continuat să te hrănească ridicat de proteine Similac. De-a lungul săptămâna viitoare când a început să meargă în jos din nou, cu o lipsă de emoție, uitându-se în spațiu, și a continuat vărsături. Până în momentul în care a fost de rulare capul înainte și înapoi medicul pediatru sunat și ne-a spus că ai avut PA. Din fericire, medicul ER care ați examinat au comandat teste de acid organic 10 zile înainte sau încă nu s-ar fi știut ce se întâmplă cu tine. Cred că asta a început cea mai grea călătorie tatăl tău și mi-aș fi imaginat.
Atunci când ne-am adus acasă de la spital ai fost moale, emotionless și a avut nici o putere superioară a corpului. Te-a pierdut capacitatea de a ridica brațele, capul tău a fost ca un nou-născut inconstant, și tu flopped la peste talie. Pielea ta era foarte palid, iar conexiunea mentală am format cu tine a fost plecat. Nu știam cine mai erai. Am pierdut fiica mea, și nu știam dacă v-ar veni vreodată înapoi. Asta e un lucru greu să se uite la, zi dupa zi. Dar, în timp, cu o mulțime de răbdare, terapii și joc normale, ai crescut într-o doamnă foarte destul de tineri, care pot face o mulțime de lucruri pe care ne-am gandit initial s-ar putea niciodată nu faci. Cu toate că nu merge pe jos, te târăști sau genunchi umbla peste tot în casă, joaca cu puzzle-uri, jucării și instrumente muzicale, mini-calculator și de comunicare dispozitiv, și vă iubesc cântând cântece cu oricine. Ați confiscat acum cele mai multe dintre jucării vechi fratelui tău, și jocurile cele mai distractive aceste zile sunt zoom camioane sau autoturisme de roti la cald pe podea cu cineva, sau swinging războaie steaua ta lumina în jurul valorii de sabie! emisiunile preferate continuă să fie Clifford, Ursulețul, Zoboomafoo și Veggie Tales. Va place sa mergi in afara, du-te pentru plimbari în dubă și să se joace la pian. Concertul DVD favorit este U2, Bono cântând Beautiful Day. Vei sta în genunchi în fața ecranului, cu un zâmbet mare pe față și apoi trage-ți cămașa peste cap și cântă când Bono vine pe scenă. Dumnezeule, dacă ai fost “normal” S-ar putea avea un copil sălbatic pe mâinile mele cu tine transformându-se într-un adolescent!
De-a lungul anilor, PA dieta si medicamentele s-au schimbat destul de un pic. Nu mai sunteți pe DDAVP hormonului antidiuretic diuretc deoarece am aflat, din nou calea grea, că nu au avut diabet insipid. Acesta a fost un diagnostic greșit la vârsta 4 și într-un fel timp de șase ani ai reușit să facă bine pe un medicament care ar putea să te ucidă. At age 10 ai început să aibă convulsii și toată lumea a fost nedumerit. N-ai avut crize convulsive in trecut. In sfarsit, ne-am dat seama că nu ai suficient sodiu în dieta dumneavoastră și după unele teste s-a determinat rinichii a lucrat bine și nu ai nevoie de DDAVP. Chiar tu șocat medicii cu asta. Un medic a spus că sunt o enigmă înfășurat într-un mister intr-o cutie de puzzle! Încă mai luați o serie de suplimente nutritive care sunt proiectate pentru a ajuta la ameliorarea stresului oxidativ sau de a crește producția de energie. Teze includ vitamine B-complex, biotină doză mare, co Q10, vitamina E, succinat de sodiu și L-carnitină. De asemenea, vă dau vitamina D3 si calciu in plus.
odată ce dieta g-tub adaptate, care de ani de zile a inclus legume Gerber, fructe și cereale a fost înlocuit cu câțiva ani în urmă, cu o formulă mix sintetic de Propimex-2, Prosobee și Polycose. Aceasta dieta trebuia să simplifice lucrurile , dar, în schimb, a complicat grija ta. În plus față de a obține o greutate mai mare nevoie de un-, noua dieta a facut pielea sa arate mai pală dacă nu vom reuși să ajungi afară la soare mult. Ai fost mai stabil pe dieta vechi, care conținea un complex de carbohidrati (ovaz) decât noua dieta care contine Polycose sau Sol carb. Sunt sigur că glicemia a fost menținut la un nivel chiar mai mult cu fulgi de ovăz decât un simplu de zahăr, care determină nivelul glucozei la Spike fiecare 2 ore, atunci când sunt în bolus-hrănite în timpul zilei. Problema principală este că pentru a vă menține stabilă și cetonă liberă le-am avut de a adăuga mai multe calorii decât ne-am dori și ați ajuns destul de grele. Ai câștigat întotdeauna în greutate cu ușurință, dar aceasta dieta sintetica a determinat să câștige cel mai mult. O altă problemă care a dezvoltat mai mult pe măsură ce ai ajuns mai în vârstă este că orice creștere a proteinei necesită o creștere de calorii sau esti bolnav. Este un fel de ironic faptul că, la vârsta de 14 noi înțelegem mult mai bine, dar că este nevoie de mai meșterire cu dieta dumneavoastră pentru a vă menține stabil. Poate că acesta este un companion de pubertate?
Bine, Kristin, acum esti un adolescent, și ne îndreptăm într-o altă cutie neagră, un necunoscut real,. Sper să continue să rămână stabil și fericit o dată hormonii într-adevăr începe să ciclu. Și sper să se adapteze bine la fratele tău se deplasează la colegiu, într-un an sau cam asa ceva. Îl iubești pe fratele tău atât de mult! Care sunt tatăl tău și eu ar trebui să fac atunci când Eric nu este aici să spun “Nite-Nite Kristin!” ca conectare-off pentru a merge la culcare? Aveți nevoie deja Benadryl si melatonina pentru a dormi bine. Am putea avea de a face Face Time! vise dulci dovleac, te iubim.
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 ani) 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, totuși, 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 în medicină, 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, totuși, 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 și 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. În plus, 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 ani. 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 și Kristin
