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.

Rachael G.

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.

Sam W

Sam W.

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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 M.

Christian M.

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

Christian M.

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 M.

Maya M.

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 M.

Maya M.

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.

ScarlettSince 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

Reuben

Reuben

Reuben

Article from Spring 2013 Boletim informativo

When people ask me about my brother it’s impossible NOT to smile. He is such an amazing person! He’s friendly, strong, funny and has an infectious laugh. Reuben is completely comfortable being himself. He doesn’t judge others and has the purest soul I’ve ever met. It doesn’t bother me that he can’t drive, that sometimes I have to “translate” what he’s saying to others, or that everything in his world is related to a sport’s team- that’s “Rube”, my baby brother and my best friend.

I remember the day he was born very clearly, I was five years old and I was nervous, very anxious to meet what I thought would be a little sister. I remember being ushered into the room with my grandparents and my mama had the bow on the newborn cap covered up with her hand and then FINALLY she unveiled it and my life was forever changed- Reuben Wade Kleckley was born March 22nd, 1984. He was named after four generations of Kleckley men and I’m sure my parents had dreams of him playing professional baseball like my daddy and granddaddy did, but God had bigger plans for him.

When Reuben was two days old, he became very ill. He was having seizures and went into a coma- and the doctors really couldn’t tell my parents why this was happening or what was wrong. No one had any answers and I remember it was a very confusing time for me because what was a happy occasion quickly became a scary time for our family. Once he was moved to ICU, I wasn’t allowed to see him because no children were allowed, and that was hard because as a new big sister that’s all I wanted to do. After a few days, the nurses and my mom got together and broke the rules- dressing me in scrubs from head to toe so that I could hold him. I remember his baptism and watching him being baptized in ICU with my baptismal gown on, wires all over and a specimen cup taped to side of his head so he wouldn’t pull out his IV again- he was such a pitiful little sight. When Reuben was about a week old, he was flown to Johns Hopkins in Baltimore and was diagnosed with Propionic Acidemia, at the time there were only about 75 cases in the country so the doctors really didn’t give my parents a lot of hope. Most children didn’t live past infancy and those who did, typically had significant developmental delays. The latter proved true for Reuben.

As a child, in those first years I don’t think I really noticed that he had global delays- not walking until he was two or using phrases until he was four. It never dawned on me that he wasn’t doing things like other toddlers, I was just happy he was with us since there were so many times he almost wasn’t. I think we were more focused on his health with surgeries and trips to Duke to see specialists than any delays. I know my parents knew early on that he was going to have challenges, but it took me awhile before I noticed he was different. I remember the questions from friends and family and sometimes the stares when we would go out in public- it made me angry as a child, but it never made me angry at Reuben, it made me angry at the ignorance or other people. The only thing that bothered me about growing up with a special needs brother was that it was very isolating, I didn’t know anyone else like me and I didn’t have any friends who understood. I had no one to talk to about it. My parents would try, but I was afraid of feeling or saying anything that might hurt them or make them worry.

I think the question I get asked most often is, “Do you ever wish your brother was normal?” Sometimes people are shocked when I say “no”. I mean, what is “normal”? I think about how happy Reuben is, how much he enjoys the simple things in life and how, at 28, he is completely unaware of the negativity in this world. He’s had a lot of struggles, but he’s had so many more positive experiences! Having a sibling with special needs is not something you wish for and it’s not always easy, but Reuben has given us so much more than we could ever hope to give him. Christmas mornings are still exciting, watching him sing “Victory in Jesus” always brings tears to my eyes and it’s because of him that I’ve dedicated my professional career to working with children with special needs.

For a long time I’d heard “you’re so good with Reuben”… so, my family wasn’t surprised when I changed majors my junior year at USC, to work with children with disabilities. Once I met my first child with autism, I was officially hooked. I became an Early Interventionist after graduating in 2003 and in November, 2011, I partnered with a colleague to form Carolina Behavior & Beyond. Our company provides early intervention services to children with disabilities and developmental delays, mainly serving children from birth to age five. I love what I do and it’s truly amazing to see a child develop and transform before my very eyes. I found my purpose in life and I know without a doubt, I have Reuben to thank for that. He’s taught me that being different is not the end of the world, that there is wealth in every life if you have the heart to find it, and that you don’t have to be in the big leagues to pitch a no-hitter.

Atualização sobre Ruben!

Ás certo-hander foi escrito em 1992 para uma aula de redação criativa que eu estava fazendo na época

Ruben será 40 on his next birthday so it's probably time for an update. He's been very healthy since March 2020. Reuben frequenta um programa diurno quatro dias por semana e um programa de meio período em nossa igreja, uma vez por semana.

Ele adora todas as coisas de beisebol e futebol americano da NFL. Over the course of many Christmas's and birthdays he's accumulated almost all the team jerseys and hats. We know he's upset about something, o que raramente acontece, quando ele joga o chapéu. Reuben joga em um time de beisebol e basquete com necessidades especiais e adora música bluegrass em todas as suas formas.

Morar com Reuben é ser recebido pela manhã com "Deus te abençoe, mãe". Sua risada pode surgir por qualquer motivo ou por nenhum motivo e é tão contagiosa quanto um resfriado comum.. Ele adora ir à igreja e a um restaurante, even though he probably won't eat anything, ele adora estar perto de pessoas. Reuben has been assigned the position of is Happiness Co-Ordinator at his sisters' Early Intervention company and is the primary reason she chose to work with children with special needs.

Ele é alimentado por sonda com toda a sua nutrição, uma mistura de Duocal, Anamix e Garanta e vai petiscar batatas fritas ou Cheetos.

Ele me ensinou muito sobre paciência e como aproveitar as pequenas coisas da vida e ficar satisfeito com qualquer coisa.

vem em nosso caminho.

Please feel free to contact me if you'd like to talk about our kiddos. Posso ser contatado em

Patt@CarolinaBehavior e Beyond.com

Reuben

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.

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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!!!!