OTC and what it stand for

Hi my name is Sarah and this is my first time that I am going to talk about mine, and my sons medical condition. Its called OTC. (its not over the counter.) Ornithine transcarbamylase deficiency. Its when the body can not break down protein for like it can for "normal" people. We are also missing some ammino acids. That is why we both have to take special medication for it. I have to take just citrulline for right now, where my son has to take citrulline and buphenyl. Its not as rare as it used to be. My boyfriend and I got very lucky that they caught it at his young age when he was just two weeks old. I knew something could of happened but was not a 100% sure, the doctors came in and told us that his newborn testing was off a little, and were informing me about him. I actually started panicking for the first time in a long time, because my adopted parents told me I had it, and then all of a sudden it went away. That is not how it works, it can not ever go away its stuck with us for the rest of our lives.Luckily, we have amazing doctors who are taking good care of us. I was so scared. There are so many things that could happen to him, he could get sick, and go into a coma and pass away like my brother did when he was just four years old. He past away when he had episdoes of encephaloathic coma. Everybody should know about this disorder because if there is someone you know that has it, then you know that they can not eat what they want, they have to be on a diet for the rest of there lives, and the fact that they have to be carefull for the rest of there lives, one time or two times of not taking the medication can cause them to go into the hospital, coma, and possibly die. Make sure you can be there for them, and let them know they are loved. Its the best thing you can do for them.

They first discovered it in my family when my mom had a few siblings that had past away. Then my mom has it, and sometimes, you can get the good gene or bad gene. Which means there is a 50% chance that you can get the gene. My aunt has is my grandmother is a carrier. and my great aunt has it. She was suffering from protein intolerance, headaches, and psychiatric symptoms. She also suffered lots of multiple miscarriages and lost 1 male in early infancy. Its so hard to think that all of this stuff can happen in my family, and when I went to go ask my mom about it she turned around and did not say anything. Do you know how I found out about all of this? The doctors helped me out. How sad. My mom suffers from migraines, intolerance to protein, and symptoms of anxiety and depression. That is how I got my otc is from my mother. I also have siblings that have it. My brother who is 20 has hyperammonemic crisis. He is on medication as well. My other brother who is 14 years old is affected by it also and carries a history of seizures and developmental delay. Basically he has brain damage. He got it when he ate to much protein and went into a coma for three months. It was awful. My sister who is now 18 is a carrier. She does show symptoms. She gets headachs and feels very dizzy sometimes, she also sees spots.

I was born on September 14,1987. In Pennsylvania. At Penn Hospital. I was a smart baby for the most part, I rolled over at four months, sat at six months vocalized my first words at 15 months, and walked at 14 months. 1989 I underwnt baseline developmental assessment. Which I had a developmental quotient of 80. I was also hypotonic which means having less then normal tone. BUt my mother declined for me to take more medicationwhen I stopped taking my medication my intellecutal functioning begain to fail. I had an IQ score of 74. My nonverbal abilities fell in the average range, and my verbal abilities were below normal. I was in special education classes until my 8 grade year. I did and still do suffer from anxiety and depression. I had to go see a psychotherapist when I was 10 to the age of 16. I still get stressed and overwhelmed and angry. Not angry to the point of no return just angry when people say and make me feel like I am not a good person. Now, I am 22 years old with a great job, that I love, and with a four and a half month old son, who I absolutly adore, the best man I can ever ask for, a cat who is great, and a bunch of friend who are there for me and my family no matter what.

OTC is a disorder in which there is a failure of the body to properly process ammonia which can lead to a coma and death if left untreated. If a mother has a daughter there is a more likely chance that she will not get OTC. It is though however, still a 50% percent chance. People sometimes say that it skips generations. No, it does not. It only "skips" some kids because they get the better gene. If the father has otc, the child will have one normal gene and one abnormal gene. When I was first told all of this about four and a half months ago I was like what the heck are you talking about. Now, that they have broke it down for me, its a lot easier. So I was thinking instead of getting into the whole details and teaching you gentics, I will describe it to you how they described it to. Basically, my mom had 6 kids 5 of us are still living one passed away, with all of us, there is a 50% percent chance that we will all get it. When my older brother was born he got the gene, my second oldest brother has no otc, gene. Then there is me. I am a carrier but I still show signs, My next brother has OTC, and then there is my sister she is also a carrier who shows signs, and then there is my youngest brother. Who also has it but he has been in a coma.

There is so much I could say about my life. It has been amazing and the fact that I have OTC, and still going on in my life is great. I am now on medication so I don't feel sick, its great for me, I realize that no matter what I have friends and my family that will take care of me. Its nice to know that I am loved for who I am, now what I have. My family disorder will not interfer with my son or my life, we are going to be strong for each other.