All posts on this blog that inlcude information about my medical care/treatment of Ornithine Transcarbamylase Deficiency (OTC) are for personal documentation and in now way are to be taken as "medical advice".

All management plans are customized to each patient's needs/disorder and my information is exclusive to my specific needs and are overseen carefully by my team at Strong Memorial Hospital in Rochester, NY.

If you have any questions about anything you read here, in regards to UCD's, please feel free to take what you have read directly to your own team.

Remember, I am just a patient, not a doctor. I would LOVE to talk to anyone about "everyday living" with Urea Cycle Disorders and would be happy to answer any questions...anytime at all.


Amy & J.J.

Amy & J.J.
Happiness is possible even while living with a UCD


Wednesday, April 21, 2010

Tale of my OTC diagnosis

I was diagnosed with OTC (ornithine transcarbamylase deficiency) by Dr. Saul Brusilowe at Johns Hopkins Hospital. What is interesting about my story is how I ended up in front of Dr. Brusilowe.

To start with you have to understand that I grew up in (and still live near) Rochester, NY.

In 1985, when I was 12, my aunt had made plans to fly with my grandmother to Virginia to visit my aunt and uncle. My grandmother backed out of the trip at the last minute because she was afraid to fly. Since the trip was planned for Memorial Day weekend and the plane ticket was non-refundable my aunt asked my parents if I could accompany her to Virginia. They said yes.

Right before we were to leave on the trip I came down with sinusitis but my pediatrician told my parents that as long as I took my antibiotics that it was okay for me to fly. So I took my first plane ride and arrived with my aunt in D.C.. I was so lethargic by the time we landed that from what I understand my uncle had to carry me through the airport.

To make a long story short we spent one night at my aunt & uncle's in Virginia and then drove to their cottage on Chincoteague Island. The morning after we arrived at Chincoteague we all went to the beach as it would be my first time seeing this ocean. I pooped out early as I was still not feeling well so my uncle took me back to the cottage to lay down. When I woke up I had a little bit of my appetite back so my uncle fed me a roast beef sandwich and turkey noodle soup. After I ate I went back to lay down until everyone else returned from the beach. When my aunt from Virginia returned from the beach she found me comatose. She is a retired nurse so they drove me to the island medical center. I was then airlifted to Salisbury, MD. The hospital in Salisbury thought I had Reyes Syndrome as I had been given aspirin to combat the fever I was running due to the sinusitis. Salisbury decided the best place for me if I had Reyes Syndrome was Johns Hopkins Hospital in Baltimore so I was airlifted to Baltimore. Mind you that to this day I remember neither of these flights.

So that is how I ended up in the PICU at Johns Hopkins where I woke up I believe a little less than 24 hrs after I went into the coma. And that is where Dr. Brusilowe found me and after talking to my mother (after she flew to Baltimore from Rochester, NY) about my eating habits and my weight. I was 12 yrs old and I was the shortest girl in my class and weighed about 50-55 lbs. diagnosed me with OTC. I was put on Phenylacetate and Benzoate and spent 3 weeks at Hopkins in the PCRU and flew home just in time to attend my 6th grade graduation. Was there so long because all this medication was experimental at the time so they wanted to track me closely.

So as a result of this I am a huge believer in fate because if I had never gone on that trip my life today would be totally different.


  1. Nothing is by chance, for sure!

    So neat that you were treated in the same place as Corrigan receives treatment today! In fact, we were just in the PCRU yesterday!

    Oh and Dr Brusilow? I mean, he is THE MAN...could God have put you in any better hands? I think not!

    Look forward to reading more and more of your story. I will not ask questions in case you are telling your story in order...but I am anxious to know more so keep writing!


  2. What an amazing story! God certainly was looking after you -- wow!! Looking forward to more entries! I'm curious how the teen years/adolescence was like with OTC. :D

  3. LOL... it's me, Pat! But I guess my google account looks like my hubby's name. ???