My journey to diagnosis was kind of a rough one. My whole childhood, I would get sick. We would, you know, go, out to eat and I would get sick shortly after. And my parents kind of always just attributed it to, you know, car sickness, or, you know, food not agreeing with me. But when I was 13 and, you know, things were starting to change, I had what they call a catastrophic event and I got really, really sick. My mom is an asymptomatic carrier. She doesn’t present with symptoms at this time. And she, you know, brought that up to them as kind of a last resort, you know. Like, I’m a carrier of this. Could this have something to do with it? And, you know, they were like, ‘You don’t know what you’re trying to diagnose, Ma'am’, you know. And, sure enough, they finally ran a blood ammonia test, and it was, you know, near 1,000. And I was in really bad shape but I’m really grateful, because you know, I think there's kind of a silver lining. My parents lost a son when I was 3 and that’s how my mom found out she was a carrier because it was before the newborn screening tests. And I just kinda think that, you know, had she not known that she was a carrier, that could have been a very different outcome for me.

So, my journey to diagnosis was actually through my last child. I live in Connecticut, so they do various tests on the newborn screening. And, sure enough, day 2 of his life, the NICU had come up and had told us that results had come back abnormal.

And they had thrown the OTC word at us. And they said we don’t really know if this is what he’s dealing with but it kind of seems like this might be it. They had finally said, ah, he does have the OTC, so it would be wise for you to get checked out ‘cause you’re possibly a carrier and you could become symptomatic. I did the test and sure enough, within like three or four weeks, I found out that I was an OTC carrier. 

Mine, ah, was similar to, to yours [Marie] in the beginning. I found out through my second-born. My oldest son, he was born a normal, healthy baby. We didn’t suspect anything wrong initially. He was my second child so we went home, actually, the next day. I called, you know, the doctor. They also do the newborn screening. So, ah, the results of that had come back kind of wonky. Ah, they wanted to do additional testing. It was more testing and more testing, and then finally the results from the genetic testing came in and did confirm that he had OTC deficiency. So, then they said, okay, you know, usually, the mother can be a carrier. So, they wanted to have me tested. I was confirmed a few weeks later that I am a carrier.

Frankie, do you feel a sense of community when you meet other women with OTC?

Absolutely. Yeah, it’s like we all share a bond, ah, that really goes without explaining. Like we feel, I mean, we spend so much time explaining ourselves to everyone else in our lives. Whether it is our family or work or anyone that we run into. Like, they don’t know what this is. So, we’re always explaining ourselves.

So, when you meet other women, and this is for me and my experience, I feel like it goes without saying that we share the same thing that’s going on, and it’s nice not to have to explain myself. And then it’s also nice to feel like I’m not alone. You feel like no one quite understands what you’re going through when you’re not feeling well. It’s hard to find someone to relate to that. So, when you do, like, it’s like an instant connection and an instant family.

How about you, Marie?

Like you said, when you meet women who are dealing with the same stuff, you don’t need to spend time on the back story. You just get that sense of relativeness with other women. Ah, it’s a relief. It’s a relief to be able to share your stresses. And all the other stuff in between that comes with this disorder. 

What about you, Aimee?

It is a very isolating diagnosis and disease. And, I used to not wanna talk about it ‘cause I thought I was alone, and no one would get it. But, you know, as I’ve, you know, grown, I’ve met more people and…it’s so exciting to know that like there’s this instant connection of like you, you get it. You just understand what each other’s going through. Even though your stories might be different and have different, you know, challenges or different components, you, you ultimately understand one another. And that’s been so amazing.