Author Archives: Angela Waits
Conferenza di famiglia 2023
2023 Registrazione alla conferenza PA
Rachel G,,es,Rachel G,,es,Rachel G,,es,Rachel G,,es.
Storie di famiglia – 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. I love both my jobs but the Painted Turtle is my favorite. Ottengo a dipingere e fare altre opere d'arte che viene venduto al pubblico,,en,Amo leggere e andare sul mio computer,,en,Frequento eventi a mio Programma speciale ricreative locali,,en.
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.
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 mesi, he was hospitalized 9 times for illnesses, exhaustion, and constipation. La maggior parte delle visite erano solo per un paio di giorni. After 2 rough hospitalizations, Sam era terrorizzato di qualsiasi altra femmina di me (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 mesi. In addition to the hypotonia, his energy levels are noticeably less than kids his age. During his yearly heart exam, è stato trovato per avere alcuni segni che puntano al futuro sviluppo della cardiomiopatia. E 'troppo presto per fare qualsiasi cosa su di esso quindi per ora, we are just monitoring that.
Complessivamente, 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! Siamo così felici per lui e per tutti i medici e gli amici che ci hanno aiutato con il nostro viaggio finora. Sam sta solo facendo bene a causa della nostra comunità PA e la sua meravigliosa medico metabolico. Non importa quale sia il futuro per lui continueremo a confidare in Dio e contare su di lui per ottenere attraverso i momenti difficili.
That’s Sam’s story. Thanks for all you guys do to help with PA.
Christian M.
Christian M. – aggiornato Febbraio 2019
Christian, also known as CJ, è un amante del divertimento di cinque anni. Ama ascoltare la musica, danza, e cantare. Le sue attività preferite includono il gioco con la sorella e guardare i video di YouTube. Christian è in asilo nido pieno giorno e ama socializzare con i suoi amici. Christian si è unito Yoga Club a scuola e partecipa nella ginnastica, tennis, classi magiche, e passeggiate a cavallo attraverso il quartiere parco. Ama viaggiare e il suo posto preferito da visitare è il 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, mangia cristiani 11 grammi di proteine, bevande Propimex-2, e prendere le vitamine tutti i giorni. Abbiamo sempre sembrano finire in ospedale durante la stagione influenzale, ma diverso da quello cristiano è stato un po 'incontro molto felice e sano ragazzo tutti i suoi traguardi.
storia passata – 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. – aggiornato febbraio 2019
Maya è un bambino di nove anni innamorato. Ama guardare i video di YouTube e facendo propri i video per il suo canale MayaTV. Maya ama fare melma e ascoltare la musica sul suo iPod. Le piace anche viaggiare e andare in vacanza con la sua famiglia. Maya è in terza elementare e ama leggere, scrivere in corsivo, e risolvere i problemi moltiplicazione. Si è unita la sua Learning Service Club a scuola e partecipa nella ginnastica, classi magiche, tennis, Dramma, e passeggiate a cavallo attraverso il quartiere parco.
Maya è stata diagnosticata la propionico Acidemia dopo il suo arrivo a casa dall'ospedale. Siamo stati fortunati ad avere una diagnosi rapida attraverso la preselezione neonato e evitato qualsiasi crisi metabolica. consuma Maya 13 grammi di proteine al giorno per via orale. Beve Propimex-2 e prende vitamine. Complessivamente, Maya è una bambina felice e sano che fa sorridere tutti con la sua personalità umoristica.
maya – 7 anni
Maya è un bambino di sette anni, energico, e divertente bambina. Attualmente è in prima elementare dove i suoi soggetti preferiti sono di classe di computer e lezione di ginnastica. Maya ama viaggiare. Le sue posizioni di viaggio preferiti sono tutto ciò che coinvolge una spiaggia e sole. Passa in pratica tutta la sua estate a nonni Yogi Bear campeggio. Adora "guidare il carrello da golf", swimming, fishing, e cercando di catturare le rane. Maya ama provare tutte le attività. E 'stata coinvolta nel balletto, classi hip hop e toccare. E 'stata in Lego del club, Mad Club Scientist, club di cottura, e un club d'arte. Ha anche cercato di ginnastica e teatro. hobby preferiti di Maya comprendono la realizzazione di video di se stessa e di giocare con tutte le sue bambole del bambino.
Maya è stato diagnosticato un propionico Acidemia attraverso la sua preselezione neonato. Con la diagnosi precoce, siamo stati in grado di evitare qualsiasi grave crisi. Attualmente Maya consuma 13 grammi di proteine per via orale e bevande Propimex-2 al giorno. Non è un grande fan di tutti gli appuntamenti del suo medico, ma capisce che ha bisogno di loro per rimanere in buona salute.
Scarlett Camille
Scarlett Camille 4/5/2006-11/21/09
The most wonderful thing in the world happened on April 5th, 2006 … tu sei nato….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, e sarò sempre orgoglioso di aver avuto un tale figlia cara.
Although your time here was short, you filled my heart with a lifetime of memories.
What a treasure, un tocco di paradiso qui sulla terra.
Mommy’s little angel…
In attesa del tocco di un po 'di mano e un sorriso da un po' di faccia.
Love you Bunny Bunny Bunny*
Reprinted from Autumn 2010 Notiziario
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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 degrees, 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!!!! |