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, December 1, 2010

Yearly visit to my UCD specialist

So as some of you may be aware, the specialist who had been following me at Strong Memorial Hospital here in Rochester, NY, Dr. Georgianne Arnold, left for a new job at Children's Hospital in Pittsburgh.

Met her temporary replacement, Dr. Jennifer Kwon, yesterday morning.  Appointment went very well.  Ammonia was only 55, which for me is good.  I know that is not optimal but I also range high.  I am not currently anemic and that is something I always struggle with.  My amino acids were within the normal range.

So I do not have to go back for another year.  In the meantime, I am going to try eating some probiotic yogurt everyday to try and deal with some tummy/intestinal issues I am having.  We are also going to try and get my heath insurance to cover citrulline or arginine again since I will be on a new health plan after the 1st of the year.

Only bad part of the appointment was getting my labs done because once again I got a phlebotomist who did not understand the importance of putting the vial of blood for the ammonia level on ice right away. 

But knock on wood, I am stable and and the doctor was happy with my labs so I am happy.


  1. Hi Amy - New to your blog. Our daughter is almost 4 months old and has been diagnosed with CPSI.

    We struggle with the lab draws almost every single time - there needs to be a better understanding of how to do these ammonia draws! Every lab person tries to do it differently and we constantly are correcting them. Can't believe that after 25 years of being treated, you're STILL having issues.

  2. Hi Amy and Kate,
    We have a protocol for drawing blood for ammonia and every UCD family should have a copy with them when they get ammonias drawn (Am, don't you have it from our NUCDF conference resource CDs?). As Amy knows, my family has been dealing with OTC deficiency for 15 years. We make sure that one of the two lab techs who know what they are doing (that we trained--ha!) are at the lab when we go in (we call ahead). You may have to ask your geneticist to call the lab supervisor and get those folks on their toes (in the old days, our geneticist used to make heads roll). You can also call the lab supervisor and request that the issues be addressed. You are right, at this point in time there really is no excuse for lab errors with ammonia! Warm regards, Cindy Le Mons, National Urea Cycle Disorders Foundation

  3. HI! I have OCD im 23 years old. Im constantly worried about my ammonia level. Do you guys know about any machine for at home checking? My doctor told me because of the freezing issue they cant make any kind of devise to check the level at home but im still looking.... maybe :)

  4. It is a 7 minute window for when the vial gets drawn, put on ice, and ran to the lab here at Texas Children's Hospital. I love our nurses! But am leery of others at places where they have no idea of the protocol.