What the HHT?

A Voice for the HHT Community

Genetics – The Ripple Effect

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By Desiree Clark

family-genetics-having-the-conversation-with-family-7-638I’ve always been interested in my family’s history. I’ve spent many hours with elderly loved ones, recording their stories and probing their memories for birth and death dates. Once in a while an interesting medical blurb would pop into the mix – when my youngest son had a lobectomy, we found out my husband’s aunt also had one in the 1960s.

A red flag went up and I made a mental note that perhaps this was hereditary. I had planned to investigate, but complications arose with the coiling process for my son and I was quite distracted.

Endovascular Coiling, or Endovascular Embolization, is a process that blocks blood flow into an aneurysm. In the case of AVMs, it’s used to stop blood from flowing through an abnormal connection between an artery and a vein. The procedure is done through a catheter placed in the groin.

Unfortunately, an air bubble leaked though during one of my son’s procedures and for several hours we didn’t know if he would survive or if he had brain damage. I don’t want to scare anyone, because typically this is pretty safe, I just happen to have the family that included in the “small risk percentage” of complications the doctors warn you about before medical procedures. More on that in future blogs!

At one of the post surgery exams, an unusual comment was made by one of our doctors. He asked if our son had any visible birth marks. He said many people with AVMs tend to have them somewhere on their body, but the connection wasn’t clear.

Jacobs birthmark

The birthmark on Jake’s foot.

In retrospect, I assume the doctor was referring to what we now know as the infamous “red dots” many HHT patients have in their mouths, but I’m still not sure. Our son had a small red circle on the ball of his foot. After his comment, I went weak in the knees.

It wasn’t because Jake’s little birthmark was news to me, but my thoughts spun to my newborn baby girl and the rather large strawberry looking mark on her chest. Pure panic set in. Doctors ordered test for her immediately. After going through this for four years with our son I couldn’t believe it was starting all over with my other little one! Thankfully, her tests came back clear and Jake’s next embolization went smoothly. Things seemed to calm down for a while.

The birthmark faded from our daughter’s skin, but it never faded from my mind. Fourteen years later she has PAVMs and has been diagnosed with HHT. I feel like I should put one of those emojis with a frown and tears after that sentence, but really it’s a blessing that we know.


Desiree’s daughter has been diagnosed with HHT and PAVMs.

See, a pebble was dropped in this family pool and each wave resonates with new information. It ripples through the generations with bits and pieces of how to recognize and treat this crazy disease. It began with an aunt who didn’t have a lung, to a little boy with a dot on his foot.

It continues on with another son, a husband, a sister in law. This isn’t the path I thought I would be going down when I began my genealogy, but I’m here and it’s important.

Eventually the ripple will stop, but only if we continue to raise awareness. I’m ready….are you?

One thought on “Genetics – The Ripple Effect

  1. I loved your story. Thanks for sharing. I have a daughter with HHT and PAVMs also.


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