Talking With Your Doctor

My name is Juli. I’m 46 years old. I live with my husband and my son and my new puppy, Jaime. And I live with OTC. Growing up, I did have a lot of different symptoms. Nausea. Terrible stomach pains a lot. My hair was very thin. My nails didn’t grow. I didn’t eat very much. I just wasn’t hungry during the day. People thought I had an eating disorder.

When I did go to the doctor, they would run a gamut of tests and everything would come back normal. They’d pull my mom aside and say, “This is all in her head. This is something she’ll outgrow.” Even in my early 20’s, when I ended up in the emergency room for similar symptoms, they ran all the tests that they could and they couldn’t find anything. So the next step was to pull in a psychiatrist to ask me if I felt safe at home. Do you feel safe in your relationship? That was very hard. Because I knew something wasn’t right and nobody was listening to me.

I was first diagnosed with OTC in 2011, I had just given birth to our third son, Eli. And he had passed away after a battle with OTC and two failed liver transplants. Our first son, Luke, is not affected at all, our second son, Noah, was also affected and he passed away at four days old.

Shortly after Eli passed away, I was tested myself. I got a call from a genetic counselor. No one in my family had even heard about this, including myself.

As a woman living with OTC, you know, you hear a couple terms. You hear carrier and you hear someone with OTC and, and to me, personally, those terms are interchangeable.

There are lots of women that are told they’re just carriers of OTC and maybe they haven’t experienced any symptoms, or maybe their symptoms are so mild that they don’t recognize them as symptoms. If they feel like something is wrong, that they’re experiencing these, you know, talk to your doctor about it. You know your body more than anyone else. Just because you haven’t had symptoms in the past doesn’t mean you can’t start developing them.

So, another thing is just really trust your body. Even if the doctors are telling you there’s nothing wrong with you, if you know something’s not right, just trust yourself. Keep advocating and fighting for yourself. Because you are the only one that truly knows you and knows what you feel like. So please, don’t stop fighting for you.

Family is very important to me and I don’t want to miss a thing. So what I can do right now is protect myself the best of my ability. Staying on my medication, keeping with my low-protein diet, just trying to live the best fullest life I can so I can be present for my family, so I can be fully present for my son, so I can be there at all of his activities. So I can see him play in the band, so I can be there with my husband, go on trips, go for walks, and just be able to live my life.