Chris' Story

I Have HHT and Two Young Children.

Hi! My name is Chris. I have HHT and have two young children. HHT can cause bleeding problems and/or put one at risk for stroke problems and/or brain abscesses. What symptoms people with HHT have, or how this mutation is expressed is individual to each person. Long before we knew anyone in my family had HHT, I had a stroke event when I was eleven years old, with several years of symptoms leading up to it. The cause was determined to be a brain AVM which was then removed.

I was lucky. I did not die or become disabled as many have. I have minimal complications from my stroke. But had we known about HHT back then, and what screened for, much of the drama related to my brain AVM could have been avoided, with treatment given prior to my symptoms.

Genetic Testing 

Almost five years ago when I was expecting my first child, genetic testing became available for HHT. Umbilical cord blood from my son Sam was sent to be genetically tested when he was born. The test came back positive for HHT in spite of the fact that at his young age there were no outward signs.

Screen for Potential Complications

Because we now know that he has HHT we know to do this for him:

  • He had a brain MRI to look for blood vessel malformations (AVMs) when he was 5 months old. At 6 months, he had surgery to remove the AVM that was found. Aside from the obvious benefit to Sam this provides (no bleeding stroke at a later date with potential serious complications), I also don’t have to worry that he might have a ticking time bomb that could go off at any time.
  • We know to check his oxygen saturation annually (a test as simple as taking a blood pressure) and watch for symptoms of large blood vessel malformations in his lungs that would be treatable if they did appear.
  • We know that even if he doesn’t have large blood vessel malformations in his lungs (and no symptoms), he still may have small ones and requires antibiotics prior to going to the dentist and prior to some other medical interventions. This will help protect his brain from bacteria that might not get filtered though his lungs as they would in a person without HHT.

So to sum up – genetic testing has allowed us to screen for potential complications before they cause a disability and to allow us to treat (antibiotics) and hopefully prevent disability all because we know Sam has HHT.

On the other hand, my second son Henry, who is 2 ½, did NOT test positive for HHT when he was similarly tested as a newborn. Subsequently, we did not have to put his little body through an MRI at an early age. We feel safe knowing Henry will not run the same risk as Sam at the dentist or during other procedures that might cause a subsequent brain abscess or stroke.

Without genetic testing, both boys would have to be put through the same expensive screening processes. Without genetic testing, we would have to assume that both boys had HHT until proven otherwise. HHT often does not express itself with obvious outside symptoms until much later in life so screening would be ongoing. And the ramifications of not knowing or not screening can be dramatic, debilitating, or even deadly.