彼得 – updated 10/18/18

Hello, 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. 癫痫发作是甘氨酸水平极度升高的结果，血液/脑屏障穿过脊髓液,,en,他们所能做的就是让我开始进行非违规饮食，等待甘氨酸减少,,en,我开始使用Propimex,,en,我的“特制果汁”,,en,几周后,,en,还在医院,,en,癫痫发作停止了，我从医院出院了,,en,我的早期肌肉张力受到影响，直到我才走路,,en,身体上我似乎推迟了，但其他开发测试是有利的,,en,他们在几年内监测我的身心发展,,en,自从我作为婴儿住院以来，我从未有过相关的代谢“情节”,,en,或任何额外的癫痫发作或住院时间,,en,我的饮食补充了Propimex配方，直到我,,en,我是素食主义者，直到,,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”), 和 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 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 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. 我倾向于自我调节，真的不是一个大肉食者,,en,我可能会吃肉或鱼2,,en,次每周,,en,顺便说说,,en,我喜欢寿司,,en,我目前在一家销售人力资源的公司担任全国销售代表,,en,当地企业的工资单和其他服务,,en,中学以来,,en,我参与过音乐剧,,en,歌剧制作,,en,和无伴奏合唱团,,en,关于我目前的药物,,en,我目前服用Levo肉碱，将我的游离肉碱保持在正常范围内是一件很困难的事情,,en,我每年进行一次血液检查，唯一提升的是甘氨酸和丙酸水平,,en,所有其他氨基酸保持在正常范围内,,en,如上所述，我服用β受体阻滞剂和ACE抑制剂,,en,我每年都在罗彻斯特医学中心任职,,en. 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- 儿科遗传学以及每年一次的心脏病专家访问,,en,在我的一生中，U of R一直在努力为员工保留一名全职代谢专家,,en,我现在的医生既包括遗传学和代谢学，也非常忙碌,,en,我从未进行基因分型，我很乐意支持未来的研究或疾病理解,,en,我和我的家人很乐意与感兴趣的人分享细节,,en,那是我的故事,,en,而且我知道我是幸运者之一,,en,我希望我的故事鼓励父母和孩子学习与PA一起生活,,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,