In Their Words: Stephanie Hukill, Factor XIII

When I was born, everything was fine. But when my umbilical cord fell off, it just kept bleeding and bleeding and bleeding. My mom kept taking me back to the doctor, but no doctor knew what was going on.

So after six or seven doctor visits, my mother had had enough and said she wasn’t leaving until they could tell her what was wrong with me. The doctor did some research and said he thought I had hemophilia. He recommended a blood transfusion, and I’ve been receiving them every two weeks throughout my life.

When I was younger, they’d have to shave the side of my head, because our transfusions were given in the head.

I say “our” because my brother, who was born four years after me, was born with the same condition.

Growing up, I wasn’t allowed to play any sports that could affect my joints. Softball, basketball – couldn’t do it. Really, anything that required strenuous activity were things the doctor told me I could not do.

It was embarrassing in school. You have to tell people about it and explain why you can’t participate in things. No one knows about Factor XIII. No one talks about it. There is still hardly anything on the Internet about it.

It is an invisible disease, sure. The main thing people notice is that I bruise really easily. It’s not a typical, small bruise; they are large, hematoma bruises. But other than that, you can’t tell anything is wrong with me.

I just have to be careful and take precaution. As I get older, I have more problems with my joints. I have to exercise my joints to keep them strong, as a way of avoiding bleeds. But I have to be very careful how hard I push it. It’s like walking around on eggshells every day. If I hit myself with something, or drop a box on my foot, you never know exactly what it’s going to lead to.

I didn’t like talking about Factor XIII when I was younger, but I’ve become a very open person, and I like educating people about it now. People are typically intrigued about the disease because it’s so different.

My doctor once told me that I would never be able to have children. Now I have three kids. I’ve received several calls from people with Factor XIII, wondering how it is possible to have biological children. The risks involved are so great, so people are really curious.

My first two labors went very well, but the third one was very difficult. It got to a point where we just didn’t know how it would end up. But thankfully, everything was all right. And that’s basically how I have to live: a little unsure about what is going to happen on any given day, but remaining happy and thankful for all that I do have.

 

What Is Factor XIII?

Factor XIII is the protein responsible for stabilizing the formation of a blood clot. In the absence of Factor XIII, a clot will still develop but it will remain unstable. When someone has a deficiency of Factor XIII, the tenuously formed clot will eventually break down and cause recurrent bleeds.

Symptoms

Soft tissue bruising
Mucosal bleeding
Intracranial bleeding
Newborns may have umbilical cord bleeding

Diagnosis

Diagnosis is made by normal coagulation screening tests and a detailed family history.

 Click here to learn more about Factor XIII.

 

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