Peter – updated 10/18/18

Ciao, il mio nome è Peter e io sono 24 anni attualmente vive a Rochester, New York. Ho PA. Durante la prima 4 settimane della mia vita, Ero considerato “pignolo”, ma niente fuori dall'ordinario. At 4 weeks, Ho sperimentato vomito proiettile, intorno al tempo mia madre ha iniziato integrare il latte materno con la formula. Mi è stato ricoverato in ospedale e hanno creduto che fosse dovuto al mio sfintere pilorico (il muscolo in apertura dello stomaco) e hanno eseguito un intervento chirurgico. Ho smesso di vomito e la mia salute migliorato per alcune settimane, ma col senno di poi suggerisce è perché sono stato messo sul IV e fu “ripulito” durante la procedura chirurgica.

At 6 weeks, Ho cominciato ad avere crisi di assenza ed è stato nuovamente ricoverato in ospedale. Una diagnosi è venuto due settimane dopo. Gli attacchi erano il risultato di livelli di glicina estremamente elevati che attraversava / barriera ematoencefalica sangue fluido spinale. Tutto quello che potevano fare era iniziare a dieta non offendere e attendere che la glicina per ridurre. Mi è stato iniziato il Propimex (il mio “succo speciale”), e 4 settimane dopo (ancora in ospedale) i sequestri si fermarono e mi è stato rilasciato dall'ospedale.

Il mio tono muscolare precoce è stato influenzato e non mi ha camminato fino 18 mesi. Fisicamente mi sembrava in ritardo, ma le altre prove di sviluppo è stato favorevole. Hanno monitorato il mio sviluppo fisico e mentale nell'arco di diversi anni.

Dal momento che il mio ricovero in ospedale come un bambino non ho mai avuto un metabolico correlato “episodio”, o qualsiasi convulsioni aggiuntivi o ricoveri in ospedale.

La mia dieta è stata integrata con Propimex formula fino a quando avevo circa 4 anni. Ero un vegetariano fino 10 years old when I had my first hot dog! 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.

I was treated with a low dose beta blocker and blood pressure medication to help manage blood flow and hopefully minimize tachycardia events.I have been monitored yearly and my Q time is now “high normal” along with a normal eco cardiogram for 2 anni. 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- Pediatric Genetics and also a yearly visit with the cardiologist. 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,