What the HHT?

A Voice for the HHT Community

Keep on Keeping on

7 Comments

By Katie Mitchell

FamilyI had never heard of Hereditary Hemorrhagic Telangiectasia, and obviously had to learn how to even pronounce it!! Thank goodness there is an abbreviation for it. HHT is much easier to say, but I still have to explain it to everyone!

As you know, HHT is a genetic blood vessel disorder that affects one in 5,000 people worldwide. I happen to have the familial mutation of the endoglin gene. So, what does this mean for me specifically? Well, every HHT patient is different. Every HHT patient has different symptoms, which can be quite aggravating because most of us want someone with the exact same symptoms so that we can find a solution!

I am 39-year-old wife and mother of three girls who was diagnosed with HHT at age 32.  After years of heavy menstrual bleeding and occasional nosebleeds, I knew I didn’t feel 100 percent or even 50 percent. But, I still pressed on!!

Fortunately, when my younger brother went for a routine physical the doctor was able to run a battery of tests because his blood oxygen level was at 84 percent. The doctor knew that was not normal for a 27-year-old young male who was a runner and kayaker. My younger brother was diagnosed with HHT, so my older brother and I immediately went to the pulmonologist and radiologist to have tests run. The test determined we had HHT as well.

AVM in lung.jpg

Example lung AVM

I have lung AVMs, but no brain AVMs. I had my lungs coiled at the HHT Center in Chapel Hill, NC, along with my younger brother.

While the coiling of AVMs in my lungs seem to be doing great, I do suffer from severe anemia. Because of this I chose to have a hysterectomy to help with all of my blood loss. I thought it would be a quick “fix” to all of my bleeding. I learned quickly there is no quick fix. I still suffer from sever anemia.

My hemoglobin levels have been as low as 5, but typically range between 8 and 11. I feel like a million dollars when I am an 11. With my anemia, I have had to undergo iron infusions (infed iron) every 6 to 12 weeks. Currently, I am on a 6 to 7 weeks schedule for routine infed iron infusions. For my nosebleeds, I use a nose compound my hematologist gave me. It seems to cut down on my daily bleeds. I also try to eat a healthier diet without certain foods that may trigger my bleeds.

HHT has taught me a lot about myself and my body. I have learned to slow down and rest, which can be hard for a mother of three young girls. My hope is that we can find a cure to stop this disease sooner rather than later. But, in the mean time, I press on and deal with the day-to-day and the bleeds and lack of energy.

If there was magic pill to take to keep my iron up, I would be the first in line! I am fortunate to have a family that supports me and walks alongside me because some days are harder and more frustrating than others. I do know that I am wonderfully and perfectly made. So, for now, I keep on keeping on.

7 thoughts on “Keep on Keeping on

  1. Yes! Keep going! There is a light at the end of the tunnel!!!!

    Liked by 1 person

  2. My family members have HHT as well. I lost my grandfather and mother due to hemorrhaging. Don’t stop fighting. They will find a cure. Good luck to you.

    Liked by 1 person

  3. i lost the half of my left lung because of and AVM and im only 25 yr old .. i am waiting to see with the doctor if yes or not i got some others AVM and if im really stuck with the HHT too … like you say . day to day

    Liked by 1 person

  4. Katie, Ask the doctors at Chapel Hill if you are a candidate for treatments to reduce your bleeding. Treatments do exist and you deserve to have as high a hemoglobin level as possible. Good luck to you!

    Liked by 1 person

  5. Tell us about the compound for your nose that your ENT prescribed. Good story. Thanks!

    Like

  6. Jag är från Sverige o fick min hht diagnotiserad 2010 har det på levern, hjärnan, magsäck, tarm, och näsa
    Får järn fusion varannan vecka och iblan blodtransfusioner
    Har tre barn och två har ärvt den har även fem barnbarn men vet inte om de fått ärva den.
    Min mamma har den och hennes tre syskon av sju och hennes pappa hade den. Jag har två syskon och tbå har fått diagnosen

    Like

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