I Have OTC Deficiency, A Frightening Metabolic Condition

I have OTC deficiency. This is rare, and not something you’ve probably ever heard of and that’s because it’s a metabolic condition or disorder that is genetically linked. OTC deficiency doesn’t really affect my life too much, however this varies and is more problematic for males because this condition is X chromosome linked.

My Family History

I live a perfectly normal life. I don’t experience pain or have fainting spells or weakness in my limbs. I can run and work and live and am perfectly healthy. But, from my youth I always experienced sensitivities to food and vomited a lot. My mother tells stories about how when I was an infant, she was always covered in baby vomit because every time I ate, I spit up a ton of milk again. So I was known as the kid who just threw up for no reason.

Going further back, I have a first cousin who died very young, at less than two years old. I was only a few months old myself when he died, and for many years I didn’t know exactly how he died. My mom said something was wrong and that there was an ammonia build up in his body that went to his brain and caused his death. Being so young myself, I didn’t ask many more questions.

However, when I was twenty-six I did get a letter from Mount Sinai Hospital in Toronto letting me know that my cousin, the sister of the deceased cousin, had tested for OTC defiencey and was a carrier of this gene mutation. It was this gene mutation that caused her younger brother’s death. I did some research, talked to my cousin and discovered that this metabolic disorder is caused by a mutated gene on the X chromosome that signals the body to cleanse ammonia build in the blood caused by protein intake to not function as it should. So my body does not do a good job at de-toxifying itself from that ammonia. As a result I have from a young age, restricted protein intake. I hate meat. I refused to eat it as a young child, resulting in many tears and drama around the dinner table.

Now, as a female, I am lucky in that I have a copy of the functioning gene from the X chromosome donated by my father at conception. My mother’s is the carrier of the mutated gene, which she inherited from her mother, as did her sister who passed it on to two children, a son and a daughter. Her daughter (my cousin) thrives as I do, but her son (also my cousin) passed away from the condition since it was undiagnosed. Speaking with genetic counsellors and specialists now, I know that should I have a male child and pass along this mutated gene, it can be managed with a low protein diet and other supplements. However, I doubt that was the case forty years ago should our family have known of the condition.

Related Article: Ill with My Frightening Condition, OTC Deficiency

Am I Afraid?

When I fist learned of this at the age of twenty-six, I was afraid of finding out whether I had this condition. I considered myself to be in good health, and the knowledge that I might have this condition sent me into an ethical rabbit hole. I had always assumed that I would have children. What did this mean for them? Could I pass along a gene that could potentially result in the death of my own child? The idea was terrifying. Genetic testing was available at that time, however, I chose not to pursue it because I knew that should I become pregnant, I would never be willing to abort a child who had tested positive for this in utero.

About a year or two later, I become very ill and needed to have surgery to remove my gall bladder, a routine day surgery. I waited a month and a half to have the surgery, and I was in agony the entire time. After the surgery, I was ill for an additional three to four months. My GI ran every conceivable test on me, only to find nothing in the end. He could not explain why my recovery was so prolonged or why I experienced pain during my recovery. I was well by then however and life moved on.

Many years later however, when I was dating my now husband, we talked about this condition and I could tell it freaked him out. However, when I had been very ill, I had told my GI about my family history, and he had not pursued it leading me to think that it couldn’t be a possibility that I had this mutated gene. However, I knew my family history scared my now husband and I began to prepare myself to look into testing myself for OTC deficiency. And then, I ate a huge steak.

Recognizing the Signs

Now, you have to understand I do not eat meat. I eat very small amounts a couple times a week and could totally live happily as a vegetarian (which I did once for a year) and never feel deprived. Sometimes, so much as the smell of cooking meat disgusts me, and eating it can make me sick to my stomach. But that fateful night, my now husband cooked a really nice thick piece of steak. It was on the rawer side, which I like and I ate the whole damn thing. Like, it must have been six ounces of meat, maybe more and I usually eat next to nothing.

Remember that scene in Harry Potter and the Chamber of Secrets where Ron barfs up slugs? Well, that night, I woke up and I had a similar experience. I literally threw up chunks of undigested meat. It was physically hard, felt just as gross as Ron vomiting up slugs looked, and this happened three times that night. I still shudder with the memory of how it felt travelling up my throat, and how my stomach moved like sludge that night. I was ill for a week. I had in-taken way too much protein and for the rest of the week I had a headache, experienced extreme fatigue and just felt God awful. I took three days off work and forced myself to go in the other two. This is what is considered symptomatic for a female who had OTC deficiency. I knew then that I needed to be tested. I had done enough research on the subject to know that it was a very real possibility that I had the condition as well.

This experience gave me pause and I looked back on my life and my own medical history. I had recovered very poorly from my gall bladder surgery. I had experienced a lot of stomach aches and episodes of vomiting in my youth. As a young pre-teen I had had two surgeries as well, one of which I had also struggled to recover from. Knowing my history and having done my research, I knew that I probably had the mutated gene. I was just hoping that I didn’t. However, testing proved that I did indeed have OTC deficiency and explained so much of what I had experienced. I believe I am the most symptomatic woman in my family.

Living with The Knowledge

When I was twenty-six, I didn’t want to be tested because I was afraid and just didn’t want to face with the choices before me, or at least what I thought were the choices based on what I knew and the information passed on to by my cousin. She did have a child around the same time, or a few years a later anyway, and she was considered a high risk pregnancy because of OTC. She did follow through with genetic testing of her child in utero and luckily, her son did not have the mutated gene. She did not exactly paint a picture of a bright future for a boy who had the gene however.

But, when I was ready to find out, I was about 37, an age where you know you only have so many years left to become a mom. Testing and meeting with genetic cousnellors took about a year, and when I did get the positive result I was upset, but it wasn’t as devastating a blow as it would have been had I received the diagnosis at twenty-six. And science advances and I have been assured that should I pass the gene along to a male child, it is something that can be managed, especially since the mutation in my family is considered mild. Had I found out about this mutation when I was twenty-six, I would have severely suffered from anxiety and although avoidance is not something I would advise in general, I think it was best for me at that time as I believe now as I did then, that I had known, it would have affected my romantic relationships. Sometimes ignorance is truly bliss. And sometimes time is needed, as I as was far better able to cope when I did find out some ten years later.

So this is my story. Sometimes what is frightening is really not scary after all.

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