Living with OTC deficiency as a female has proved very interesting, and unexpected. If you have been following my blog at all, you might know that I have a rare genetic disorder callled OTC deficiency. Essentially, my body can’t break down toxics, including ammonia, caused by protein intake. All my life, I hated eating meat. I’ve never been crazy about eggs either. To be quite honest, I’d start to eat a piece of meat and enjoy the first four bites and then suddenly, the taste would change and I couldn’t stomach another bite. Which I know is strange. So all my life I have restricted protein intake, preferring veggies and carbs. And many people with OTC deficiency do restrict protein intake. Which can be problematic.
Protein Intake is Tricky
If a person with OTC intakes too much protein, this can be dangerous as it can cause a spike in ammonia in the blood. That can result in headaches, fatigue, nausea and vomiting. But, if we restrict protein intake, this is also dangerous as our bodies can also then spike too much ammonia as it breaks down the protein in the body, causing symptoms and even a catabolic state, which happened to me early in my pregnancy. And that was quite uncomfortable and scary. Once my blood ammonia had really spiked, I displayed psychiatric symptoms as well, thinking and saying things that no one in a normal state of mind would say. I never expected that living as a female with OTC deficiency would include this.
It is important to note that “elevated concentrations of ammonia in the brain as a result of hyperammonemia leads to cerebral dysfunction involving a spectrum of neuropsychiatric and neurological symptoms (impaired memory, shortened attention span, sleep-wake inversions, brain edema, intracranial hypertension, seizures, ataxia and coma). Many studies have demonstrated ammonia as a major player involved in the neuropathophysiology associated with liver failure and inherited urea cycle enzyme disorders.” National Library of Medicine.
Managing OTC Deficiency
So, how do I manage this condition? To be quite honest, it’s managed through diet. Monitoring my diet has been key for a year now, since I became so ill that my cognitive function became impaired. I had to begin to consume much more protein than I ever had in my life, especially since I was pregnant. And even now, I still have to make sure I eat just enough protein, but not too much. While I was pregnant, I was told to eat between 50-60 grams of protein. I aimed to eat 12-15 grams of protein every meal and the rest I consumed through medical protein, a special supplement for those with urea cycle disorders, such as OTC deficiency. Usually for females with OTC being careful with diet is enough to manage the condition.
How much protein a patient with OTC deficiency should consume will vary naturally, based on height and weight, any likely other factors. As I’m not a doctor, I’m not going to pretend to have all the information here, but I am just sharing what I know through my own experience and research. Although, I will say, many doctors likely know less about this condition than I do, as it is so rare. A male with this condition would need more careful care than a female, generally speaking. Males with this condition can also suffer impaired cognitive function and have died from the condition as well. My own cousin died as result of this condition at 18 months, back in 1980, and I have spoken with others who have lost children much younger, which is utterly heartbreaking.
Medications for OTC
In my case however, since I presented with high blood ammonia, which I think shocked my doctors, they decided to be really proactive and put me on medications to treat urea cycle disorders. While I am not sure, as I am not an expert, I don’t think it’s common to place women on these meds. In fact, my own metabolic specalist has said I may not have to take these for the rest of my life. The medication I am on is called Ravicti, and I also take L-citrulline.
The schedule for my diet and taking meds and supplements can be taxing as I should not go longer than 12 hours without eating, need to take these meds and the protein supplements three times a day with every meal. I can’t tell you how often I’ve forgotten, and of course, I need to take meds with me if I am eating out. Which I usually forget to do. Ravicti “is a prescription medicine used for long-term management of high blood levels of ammonia (hyperammonemia) caused by a condition called a urea cycle disorder (UCD). RAVICTI should be used if the UCD cannot be managed with a low-protein diet and dietary supplements alone. RAVICTI must be used along with a low-protein diet and in some cases dietary supplements.” Essentially this medication does what my body cannot. Which I cannot express how thankful I am that this exists.
I know that I have had other OTC episodes in my life. Having an actual diagnosed episode during my pregnancy really highlighted to me that some of the medical issues I dealt with when I was younger were likely due to high blood ammonia. Of course, at that time of those episodes, I didn’t know I had this metabolic condition. I worry about this to a certain degree-how symptomatic am I? Is diet alone enough to manage this condition or do I need these meds? How do I manage this diet and maintain a healthy diet that I enjoy eating? Some of these questions plague me at times. Living with OTC deficiency as a female has proved more problematic than I initially thought when I diagnosed. I hope that I have raised some awareness by sharing my experiences here on the blog, because it’s likely more widespread than the word “rare” would suggest.
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