Part III: No Nosebleeds, No Problem?

If you meet with a geneticist, they ask you about your family.  My father had a brother and a sister, but my mother was one of thirteen children. Nine of them were sisters who lived to adulthood. The sisters and my mother were all very close, despite the geographical distance between my mother and the rest of them after she married. When I think of extended family, I think of my mother’s side of the family.

My mother and her sisters happened to keep good records of each other’s medical conditions, which was something I was able to share with the geneticist.  My mother’s father had a stroke and, of the nine sisters and one brother who lived into full adulthood, four of them had strokes, or shocks (pronounced “show-ocks” by my family in Massachusetts). It seemed to me “show-ocks” were something almost normal that happened to people. A sad part of life.  I’ll note here that a rate of four out of ten siblings with strokes is pretty close to 50%.  With respect to HHT, though, one thing that was missing:  I asked around, and nobody had nosebleeds.  Only me.

Still, I gave the family medical history to the genetics lab at the University of Texas – Southwestern. The counselor said that there was a chance I had HHT, and I could get tested if I wanted, but they weren’t convinced.  By that time, my mother and father had passed away, so I couldn’t ask them anything. Remember, I was in denial of HHT, so I decided not to get tested.

I never had the chance to be close to my mother’s sisters’ kids, my cousins. They lived far away. They were older by 5 to 20 years.

In the years prior to visiting the University of Texas – Southwestern Center of Excellence, I had connected with one of my cousins via Facebook.  It was nice being able to relate to her on an adult level, and she was my window into the rest of the family.  I had been telling her about my doctor visits. When I heard from the genetics people that they didn’t think that I had HHT, she was very happy.

Two weeks later, she was dead of a stroke.

Back I went to the genetics people. Now they thought I should be tested. So, I did, and I do have HHT. Five years of denial and wondering finally ended.

More to come.

3 Comments

  1. Tina on November 14, 2019 at 2:59 am

    Hello I’m new to this and reading up. I am going to see genetics to see about hht I have had 5 major operations in the last 15 years they started at age 42. None when I was a child. And some long gaps in between ops. I have telangestasias few on lips and face lots on body. My two youngest brothers have had nose bleeds since childhood and still get them. In denial like you but know something is wrong. Would appreciate some fed back and more of your experience on this. Will put my email on. Many thanks. Tina

  2. John Campbell on February 20, 2020 at 9:04 pm

    Hello, Tina. It’s a big step to pursue a diagnosis, isn’t it? I think denial is natural. Yes, yes, yes, go see a genetics lab. Now, one thing is that you might want to refer them to one of the HHT Treatment Centers which are listed in the “News and Resources” section of the CureHHT website. There are a few known genetic mutations that can cause HHT. If the Genetics lab that you are going to is not familiar, then the HHT Treatment Center could advise them. Then, if it turns out that you and / or your brothers have HHT, the treatment centers can recommend the right treatment. The one here in Dallas has helped me tremendously so that my nosebleeds are much less frequent and lengthy compared to before. Would like to know how it turns out for you.

  3. John Campbell on February 20, 2020 at 9:06 pm

    BTW, I just saw your comment today which you posted on Nov 14th! Darn! I certainly wasn’t ignoring you.

Leave a Comment





This site uses Akismet to reduce spam. Learn how your comment data is processed.