By Katie Mitchell
I 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.
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.