Peter – updated 10/18/18
Peter
Hola,,en,mi nombre es Pedro y yo soy,,en,años viviendo actualmente en Rochester,,en,Tengo PA,,en,Durante el primer,,en,semanas de mi vida,,en,Fui considerado "quisquilloso",,en,pero nada fuera de lo común,,en,Experimenté vómito proyectil.,,en,en la época en que mi madre comenzó a suplementar la leche materna con fórmula,,en,Me ingresaron en el hospital y creyeron que se debía a mi esfínter pilórico.,,en,el músculo en la abertura del estómago,,en,y realizaron cirugia,,en,Dejé de vomitar y mi salud mejoró por unas semanas.,,en,pero la retrospectiva sugiere que se debe a que me colocaron en iv y me “limpiaron” durante el procedimiento quirúrgico,,en,Comencé a tener ataques de ausencia y fui readmitida en el hospital.,,en,Un diagnóstico llegó dos semanas después.,,en, my name is Peter and I am 24 years old currently living in Rochester, New York. I have PA. During the first 4 weeks of my life, I was considered “fussy”, but nothing out of the ordinary. At 4 weeks, I experienced projectile vomiting, around the time my mom started supplementing breast milk with formula. I was admitted to the hospital and they believed it was due to my pyloric sphincter (the muscle at stomach opening) and they performed surgery. I stopped vomiting and my health improved for a few weeks, but hindsight suggests it is because I was placed on iv’s and was “cleaned out” during the surgical procedure.
At 6 weeks, I began having absence seizures and was re-admitted to the hospital. A diagnosis came two weeks later. Las convulsiones fueron el resultado de niveles de glicina extremadamente elevados que cruzaron la barrera hematoencefálica hacia el fluido espinal.,,en,Todo lo que pudieron hacer fue iniciarme en una dieta no ofensiva y esperar a que la glicina se redujera.,,en,Me inicié en Propimex,,en,mi "jugo especial",,en,semanas después,,en,todavia en el hospital,,en,Las convulsiones cesaron y fui dado de alta del hospital.,,en,Mi tono muscular temprano fue impactado y no caminé hasta,,en,Físicamente me pareció retrasado pero otras pruebas de desarrollo fueron favorables.,,en,Supervisaron mi desarrollo físico y mental durante varios años.,,en,Desde mi hospitalización como bebé, nunca he tenido un "episodio" metabólico relacionado,,en,o cualquier convulsiones adicionales o estancias en el hospital,,en,Mi dieta se complementó con la fórmula Propimex hasta que estuve a punto.,,en,Yo era vegetariano hasta,,en. All they could do was start me on a non-offending diet and wait for the glycine to reduce. I was started on Propimex (my “special juice”), y 4 weeks later (still in the hospital) the seizures stopped and I was released from the hospital.
My early muscle tone was impacted and I did not walk until 18 months. Physically I seemed delayed but other development testing was favorable. They monitored my physical and mental development over several years.
Since my hospitalization as an infant I have never had a related metabolic “episode”, or any additional seizures or hospital stays.
My diet was supplemented with Propimex formula until I was about 4 years old. I was a vegetarian until 10 años cuando tuve mi primer perro caliente,,en,Mi comida favorita era y sigue siendo la pasta.,,en,Tuve citas semestrales en la clínica metabólica en el Centro Médico de la Universidad de Rochester en la que un dietista sugeriría la cantidad de proteína que debería ingerir,,en,Tomé mi almuerzo durante mis años de escuela secundaria para ayudar a controlar las cantidades de proteínas,,en,Fue relativamente fácil permanecer dentro de las pautas de proteínas ya que no comí mucha carne,,en,En el Instituto,,en,Comencé a tener palpitaciones cardíacas rápidas y algunas veces tuve problemas en la clase de gimnasia cuando teníamos que correr largas distancias. Me enviaron a un cardiólogo pediátrico para un ECG de línea de base y tuve un tiempo Q ligeramente prolongado.,,en,Esto se ha observado en otros pacientes con PA.,,en! My favorite food was and still is pasta. I had bi-annual appointments at the metabolic clinic at the University of Rochester Medical Centerin which a dietician would suggest the amount of protein I should be eating. I took my lunch through my high school years to help control protein amounts. It was relatively easy to stay within the protein guidelines since I did not eat a lot of meat.
In high school, I began having rapid heart palpitations and sometimes struggled in gym class when we had to run long distances.I was sent to a pediatric cardiologist for a baseline EKG and had a slightly prolonged Q time.The doctors determined that I had metabolic induced cardiomyopathy. This has been noted in other PA patients.
Me trataron con un bloqueador beta de dosis baja y un medicamento para la presión arterial para ayudar a controlar el flujo sanguíneo y, con suerte, minimizar los eventos de taquicardia. Me han monitoreado cada año y mi tiempo Q ahora es "normal" junto con un ecocardiograma normal para,,en,He aprendido que si hago ejercicio con el estómago casi vacío,,en,me siento bien,,en,Tengo una taquicardia ocasional inducida por adrenalina, pero he aprendido a controlarla tomando respiraciones profundas para detenerla rápidamente,,en,Fui a la universidad y me gradué con un negocio de música.,,en,Grado de interpretación vocal,,en,y luego siguió con un segundo grado en Administración de Empresas.,,en,Yo vivia en los dormitorios,,en,comió comida del campus,,en,y tuve una gran experiencia universitaria,,en,Realmente no tuve ningún problema al comer comida del dormitorio ya que había muchas opciones vegetarianas disponibles,,en 2 years now. I have learned that if I exercise on a near empty stomach, I feel fine! I do have an occasional adrenaline induced tachycardia but I have learned to manage it bytaking deep breaths to stop it quickly.
I went away to college and graduated with both a Music Business / Vocal Performance Degree, and then followed with a second degree in Business Administration. I lived in the dorms, ate campus food, and had a great college experience! I really did not have any issue eating dormitory food as there were many vegetarian options available. I tend to self-regulate and really am not a big meat eater. I probably eat meat or fish2 to 3 times a week. By the way, I LOVE sushi.
I am currently employed as a National Sales Representative for a company which sells HR, payroll and other services to local businesses. Since middle school, I have been involved in musicals, opera productions, and a cappella groups.
With respect to my current medications, I currently take Levo carnitine and it can be a struggle to keep my free carnitine in the normal range. I have blood tests once per year and the only thing elevated is glycine and propionic acid levels. All other amino acids remain in the normal range. As mentioned I take a beta blocker and an ACE inhibitor.
I have yearly appointments at U of Rochester Med Center- Genética pediátrica y también una visita anual con el cardiólogo.,,en,A lo largo de mi vida, U of R ha luchado para mantener un especialista metabólico a tiempo completo en el personal,,en,Mi médico actual cubre tanto la genética como el metabolismo y está extremadamente ocupado.,,en,Nunca he sido tipificado genéticamente y me encantaría apoyar la investigación futura o la comprensión de la enfermedad,,en,Mi familia y yo estamos encantados de compartir detalles con cualquiera que esté interesado,,en,Esa es mi historia,,en,Y sé que soy uno de los afortunados.,,en,Espero que mi historia anime a los padres y niños que aprenden a vivir con PA,,en. Over my lifetime U of R has struggled to keep a full time metabolic specialist on staff. My current physician covers both genetics and metabolics and is extremely busy.
I have never been genetically typed and I would love to support future research or disease understanding. My family and I are happy to share details to anyone who is interested.
That is my story, and I know that I am one of the lucky ones. I do hope that my story encourages parents and children learning to live with PA.
Thank you,
