Lance's Story

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HHT - ever heard of it?

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Me neither, not until over a year ago at the age of 40.

I have it. And my 2 daughters have it. And I’m learning just about everything I can about it.

HHT stands for Hereditary Hemorrhagic Telangiectasia - also known as Osler Weber Rendu disease.

About 1 in 5,000 people have HHT. That makes it “rare.”

But it’s more common than some of the diseases and disorders you’ve probably heard of - ALS, Hemophilia, and Muscular Dystrophy, for example.

It’s hereditary and doesn’t skip a generation - there’s a 50% chance of a parent passing it to their child. 

 

It’s estimated that only 20% of the people who have it are currently diagnosed. And it’s a disorder that most doctors aren’t familiar with.

 

Why? 

 

Possibly because there isn’t an FDA or AMA approved medicine specifically for HHT to treat it. Maybe because it is a bit complex. The more I learn, the more I think of it as being “specific.”

 

What does HHT do?

 

It’s a genetic mutation that affects the blood vessels, any of them/anywhere. And it causes bleeding, and/or malformations between arteries and veins. 

 

Depending on the mutation, it can target more specific areas of the body - in my case, potentially the brain and the lungs. For others it can affect the liver, GI tract, and even the spine.

 

For most, it affects the nose and skin. We often deal with nosebleeds - a lot. 

Some even uncontrollably. It can cause iron deficiency, anemia, and just generally interrupt life.

 

There are some treatments to slow the bleeds - some of them are cancer treatments, and experimental.

 

A family history of nosebleeds is often the biggest red flags that anyone might have HHT.

Otherwise, some people and families affected by it aren’t aware because there are little to no symptoms.

So some people don’t find out until a catastrophic health event affects their family: aneurysm, cerebral hemorrhage, epilepsy, brain abscess, stroke, high-cardiac output heart failure, among others. It can even be mistaken for more common things like asthma and PFO (a hole in the heart).

 

But there aren’t always visible symptoms. And HHT can affect people differently, even within the same family. 

 

On average, it takes 27 years to diagnose HHT. I was 40, despite having nosebleeds my entire life, and asthma when I was a kid.

 

So when I started experiencing worsening health 4 years ago, and no answers, I had to push. 

 

And when I finally had answers, I knew I had to advocate.

 

This is for anyone who’s ever had to Advocate.

 

-A portion of the proceeds will go to Cure HHT.

Cure HHT is a Non Profit that raises awareness about HHT, researches and improves treatments, and increases patient access to care. Cure HHT trains Doctors and establishes Centers of Excellence to provide specialized treatment and monitoring for the disorder.

I have had the opportunity to meet several of the folks from Cure HHT while in Washington DC, sharing my story along their side to politicians, and advocating for government funding for HHT research and establishing Centers of Excellence.

I can personally that Cure HHT is a fantastic organization - They treat everyone affected by HHT like family.

 

Thank you for your support.

Thank you for your Awareness.

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-Lance Pelletier