Arquivos do Autor,,en,Rachel G.,,en: Angela Waits
conferência familiar 2023
2023 Inscrição na Conferência PA
Rachel G,,es,Rachel G,,es,Rachel G,,es,Rachel G,,es,Rachel G,,es.
Histórias de família – Rachel G,,es,Rachel G,,es,Rachel G,,es,Rachel G,,es,Rachel G,,es.
My name is Rachel. I am 40 years old and have propionic acidemia. I live with my mom and dad. Three days of the week I work at a work center for the disabled and on 2 days I go to work at the Painted Turtle. Eu amo meus dois empregos, mas a tartaruga pintada é o meu favorito,,en,Eu começo a pintar e fazer outras obras de arte que é vendido ao público,,en,Gosto de ler e ir no meu computador,,en,I participar de eventos no meu programa de recreação especial locais,,en,Nós jogar boliche,,en,tem danças e assistir a peças de teatro,,en,As minhas férias favoritas são a Disney World e os Cruzeiros Disney,,en,Disney é muito bem em ajudar-me com a minha dieta especial,,en,Rachael G,,en. I get to paint and do other artwork that is sold to the public.
I love to read and go on my computer. I attend events at my local Special Recreation Program. We go bowling, have dances and attend plays.
My favorite vacations are at Disney World and the Disney Cruises. Disney is very good about helping me with my special diet.
Teegan
Em memória Loving de Teegan,en
2002-2017
Sam W
Sam W.
Sam was born a week and 4 days late. Everything about his birth was perfectly normal unlike his older brother. I had the birth I wanted; he was breastfeeding well. For 3 days, life was perfect. Then, we got the phone call. His newborn screen had elevated C3. He had to go to the ER immediately. He did not have any symptoms at this point, so we assumed it was probably just a precaution. The tests at the ER showed elevated ammonia, hypoglycemia, and elevated ketones. He was then admitted to the Children’s hospital. After 5 days, we had the diagnosis of PA. He was discharged and stayed out of the hospital until 7 months old. From 7 months to 18 months, he was hospitalized 9 times for illnesses, exhaustion, and constipation. A maioria das visitas foram apenas para um par de dias. After 2 rough hospitalizations, Sam tinha pavor de qualquer outra mulher do que eu (we assume because most nurses and phlebotomists were female). That’s when we decided to have a gtube placed. It was the best decision we ever made. He is now 3 and has not been hospitalized since the gtube surgery. Thanks to the newborn screen, he has never had a crisis. He is where he should be cognitively. Physically, he has hypotonia. He had to have therapy to help him learn to crawl and walk, but he still managed to walk by 18 months. In addition to the hypotonia, his energy levels are noticeably less than kids his age. During his yearly heart exam, ele foi encontrado para ter alguns sinais que apontam para o futuro desenvolvimento de cardiomiopatia. Ainda é muito cedo para fazer qualquer coisa sobre isso por enquanto, we are just monitoring that.
Overall, Sam is a happy and thriving 3 year old. He is all boy and loves guns and superheroes. At the same time, he can be very sweet and loving. He also loves to eat especially chips and anything fried! Nós somos tão gratos por ele e por todos os médicos e amigos que nos ajudaram através de nossa jornada até hoje. Sam está apenas fazendo bem por causa de nossa comunidade PA e sua maravilhosa médico metabólica. Não importa o que o futuro reserva para ele vamos continuar a confiar em Deus e confiar nele para nos levar através dos tempos difíceis.
That’s Sam’s story. Thanks for all you guys do to help with PA.
Christian M.
Christian M. – Febrary atualizados 2019
Christian, also known as CJ, é um divertido amorosa de cinco anos. Ele gosta de ouvir música, dança, e cante. Suas atividades preferidas incluem jogar com sua irmã e assistir vídeos do YouTube. Christian é no jardim de infância dia inteiro e adora socializar com seus amigos. Christian juntou Yoga Clube na escola e ele participa de ginástica, tênis, aulas de mágica, e passeios a cavalo através do distrito de parque. Ele adora viajar e seu lugar favorito para visitar é o Great Smoky Mountains.
Christian’s older sister was diagnosed with Propionic Acidemia through the newborn prescreening, therefore we had a crisis management plan put in place for his birth. Within 48 hours of his birth, we received his diagnosis of PA. Currently, come cristãos 11 gramas de proteína, bebidas Propimex-2, e tomar vitaminas diariamente. Nós sempre parecem acabar no hospital durante a temporada de gripe, mas diferente do que Christian tem sido um pouco reunião muito feliz e saudável menino todos os seus marcos.
história passada – Christian – age 3
Christian, also known as CJ, is a three year old dancing machine. He loves to listen to music and have dance parties in our kitchen and basement. He is the life of the party and always making people smile. CJ attend preschool twice a week and is also involved in soccer and gymnastics. At home, he loves to follow his older sister around and try to play whatever she is playing. His superhero toys are often battling Barbies. Like most other three year olds, CJ loves cars, trucks, and his favorite television show is Paw Patrol.
Maya M.
Maya M. – fevereiro atualizada 2019
Maya é um amor de nove anos. Ela adora assistir vídeos do YouTube e fazer seus próprios vídeos para seu canal MayaTV. Maya adora fazer lodo e ouvir a música em seu iPod. Ela também gosta de viajar e ir de férias com sua família. Maya está em terceiro grau e adora ler, escrever em letra cursiva, e resolver problemas de multiplicação. Ela se juntou a ela Learning Service clube na escola e participa de ginástica, aulas de mágica, tênis, drama, e passeios a cavalo através do distrito de parque.
Maya foi diagnosticado com Propionic Acidemia depois de chegar em casa do hospital. Tivemos a sorte de ter um diagnóstico rápido através do prescreening recém-nascido e evitou qualquer crise metabólica. consome Maya 13 gramas de proteína por diária boca. Ela bebe Propimex-2 e toma vitaminas. Overall, Maya é uma menina feliz e saudável que faz todos sorrir com a sua personalidade bem-humorado.
maia – 7 years old
Maya é uma criança de sete anos, enérgico, e menina hilariante. Ela está atualmente em primeiro grau onde seus temas favoritos são de classe computador e aula de ginástica. Maya adora viajar. Seus locais de viagem favoritos são qualquer coisa que envolva uma praia e sol. Ela passa, basicamente, todo o seu verão em acampamento Yogi Bear dos avós. Ela adora "dirigindo o carrinho de golfe", swimming, fishing, e tentando pegar rãs. Maya adora experimentar todas as atividades. Ela tem estado envolvido em ballet, aulas de hip hop e toque. Ela tem sido em Lego clube, clube Mad Scientist, cozinhar clube, e clube de arte. Ela também tentou ginástica e teatro. passatempos favoritos de Maya incluem fazer vídeos de si mesma e brincar com todas as suas bonecas.
Maya foi diagnosticado com Propionic Acidemia através dela prescreening recém-nascido. Com a detecção precoce, fomos capazes de evitar qualquer grande crise. Atualmente Maya consome 13 gramas de proteína por via oral e bebidas Propimex-2 diária. Ela não é um grande fã de todos os compromissos do seu médico, mas entende que ela precisa deles para se manter saudável.
Scarlett Camille
Scarlett Camille 4/5/2006-11/21/09
The most wonderful thing in the world happened on April 5th, 2006 … you were born….Scarlett Camille.
Since then life was changed forever in a very special way!
There’s so many things you brought to my life, endless wonders, incredible sweetness, such a tiny little miracle child, unforgettable moments, joy that grew and grew, more love than you could ever dream possible!
I will never forget your strength and courage, and I will be forever proud to have had such a darling daughter.
Although your time here was short, you filled my heart with a lifetime of memories.
What a treasure, a touch of heaven here on earth.
Mommy’s little angel…
Awaiting the touch of a little hand and a smile from a little face.
Love you Bunny Bunny Bunny*
Reprinted from Autumn 2010 Boletim informativo
![](https://www.pafoundation.com/images/Gwen-1-2015.jpg)
Gwen
Gwen M. – updated May 2015 |
My beautiful girl just turned 9 years old this year and it seems nothing short of a miracle. At 2 days of age, Gwen became catastrophically ill, her body temperature dropped below 90 graus, ammonia level exceeded 1,500 umol/L and she stopped breathing. She was placed on a ventilator and received peritoneal dialysis for a couple of days until she came out of her coma and was breathing on her own. On her 3rd day she was diagnosed Propionic Acidemia and her future was very uncertain. During Gwen’s first 3 years of life she spent as much time in the hospital as she did at home. Although she’s been admitted more than 50 times, she’s undoubtedly one of the happiest people on Earth. At age 1 she stopped eating by mouth, and since then she’s been fed 100% by a feeding tube because she refuses to eat anything. For many years she wore a backpack to carry her feeding pump, but she is now able to tolerate her formula through small bolus feedings and has a nurse who cares for her during the day.Gwen knows she’s very cute and she plays that to her advantage. What she does not yet know is that she’s very brave, has an endless capacity to forgive, an amazing will to live, and a beautiful spirit from God that has touched the lives of hundreds. She talks non-stop, sings the entire time we’re in the car, jumps off of anything she can climb on, loves to dance, play with her American Girl dolls and spend time with her brother and friends. She’s in second grade and receives special education services for PT, OT, math and reading. She’s also in Brownies and on the Special Olympics swim team! She is a miracle, a daily blessing, and a ray of sunshine in any room. I am grateful for every day I have with her and so proud to be her mom.
—————————————————————————- Gwendolyn Grace M. was born at 3:33 p.m. on February 3, 2006. She will soon be only 5 months old, but has already brought a lot of drama to our lives! She was diagnosed at 3 days of age with Propionic Acidemia. At 2 days of life we found ourselves at Columbus Children’s Hospital emergency room only hours after being discharged from the hospital of her birth. We were quickly transferred to the NICU, where we spent the next 2 weeks. That first night at Children’s, her ammonia level reached over 1,500 & she had stopped breathing. The fantastic medical staff acted very quickly. Gwen was intubated & put on dialysis. We nearly lost her a couple of times during that stay, but she pulled through. She ended up having another episode less than 2 weeks after being discharged. Once again, she pulled through magnificently. We have quickly learned the fragile nature of good health, the strength of a family, along with the amazing power of prayer. My baby girl is nearly 4 months old & seems to be beating all the odds. Despite her rough beginning, she is meeting all her early milestones. Gwen has an awesome fun club, including her brother, parents, grandparents, aunts, uncles, cousins, doctors, nurses, teachers, & friends. We are so grateful for their love & support. Check out our new web-site with even more pictures – Click Here. Gwen’s 1st B-day!!!! |