Everything but HHT … The Story of a Diagnosis

As a former lawyer and a professional musician, I always thought I was kind of healthy. I say kind of because I’ve always had bad headaches, got tired easily and sometimes was so pale, but who cares, right? I just got used to it.

I even used to practice bouldering (rock climbing) about 3-4 times per week while living in New York City and worked as a professional musician performing with various bands and singers in the city and other states.

 

After various years I moved back to Mexico City and was going under stress when I had a few episodes of GI bleeding. It wasn’t the first time it had happened so I didn’t freak out, went to see a gastroenterologist who sent me some medicines to stop the bleeding and reduce inflammation, and since I had had a couple of endoscopies in the last recent years and everything looked normal (except from my IBS and celiac disease), the doctor decided to wait and see if the meds worked. They did.

 

About six months later I had a bad headache while having dinner with a friend, but for the first time ever I completely forgot how to speak for a couple of seconds; then I freaked out.

The next day I went to see a neurosurgeon who requested some tests. She said that I had a really bad migraine that was causing episodes of epilepsy without convulsions, it was a “petite mal” kind of epilepsy. The doctor sent me a medicine to treat migraines and epilepsy which I was supposed to take for 2 years. The medicine made me be even more tired. I had hair-loss and gained a couple of pounds while the migraines continued to get worse. The doctor kept telling me I needed to take the medication or otherwise I’d get worse, so after 10 months of trying and taking the meds I finally decided to change doctors.

 

This is where the journey to my HHT diagnosis begins.

 

I went to see a neurologist who on the first consultation told me that my headaches were not migraines.  He said that the kind of pain I had was very particular and very similar to the one people with a congenital heart problem had called Patent foramen ovale.

So, I had a bubble echocardiogram done, which showed many bubbles going through, so the cardiologist who made the test said I had a patent foramen ovale (PFO).

Then I went to see a cardiologist specialized in treating PFOs, he studied the results of the bubble echocardiogram and said I had a big PFO which needed to get closed with a device called Amplatzer PFO Occluder.

 

Next thing, I was at the hospital getting a catherization done to get the Amplatzer installed in my heart when the doctors said to me: “Congratulations, you don’t have a PFO”. You can go home tomorrow morning and don’t worry about anything”.

 

Wait… What???

 

This was the hardest part of my diagnosis journey. I didn’t know what was wrong with me, but I did know there was something off, while the cardiologist sent me home like nothing and told me to not think about it or anything regarding my health, I was starting to get really worried.

I just had a catherization done to install a device in a hole in my heart which I didn’t have!

 

Again… What???

 

While the doctors said everything was fine I just couldn’t sleep that night at the hospital, something was wrong.

The next morning, while leaving the hospital I called my neurologist to update him. He said it was a weird situation so he requested a transcranial doppler test, to see if there were bubbles going through my head. They did, there were many bubbles, actually.

 

The next step was to get MRAs with contrast for my thorax and head to see what was going on and… Bingo!

There was an AVM on my liver and many small ones on my lungs.

 

The doctors involved in these tests didn’t know about Hereditary Hemorrhagic Telangiectasia (HHT) nor the cause of my AVMs, but they consulted with various doctors and the possible diagnosis of HHT came up.

 

With all the results in hand, I went to see a great hematologist who fortunately knew plenty about HHT. He requested more tests and he was the one who integrated the final diagnosis of HHT. This doctor was also intelligent and kind, so he walked me through the disease, detailed possible emergency scenarios, told me how to take care of myself and how to avoid and treat anemia, he also referred me to other specialists to check and possibly treat my AVMs.

 

Before seeing this great hematologist, I went to see another hematologist who was recommended by the other doctor I was seeing. This was a really bad experience since she had no idea about what Hereditary Hemorrhagic Telangiectasia was and started to make up stupid things like people with HHT don’t grow enough (while I’m 5’10), and that they have one arm shorter than the other and other nonsense stuff.

 

Today I’m in the lucky 10% of people with HHT who do have a diagnosis.

Before, I had lived my whole life taking risks while being unaware of my condition, doing things like practicing karate and basketball when I was younger, or more recently, doing rock climbing, hiking up temples in Japan and even tried parachuting.

 

I’m grateful for the doctors who helped me get the diagnosis of HHT, as well as my family and great friends who have supported me through all this. But I’ve also met doctors who have no idea about the disease and I myself had lived my whole life without knowing I have this condition, until last month.

I went through some crazy stuff before getting the right diagnosis, so I’m sharing my story with the intention of raising awareness about HHT as well as letting other people with HHT know that they are not alone.

3 Comments

  1. Alicia Reed on May 16, 2019 at 5:07 pm

    Yes!!!! This!!!! There are too many Doctors that don’t know about HHT and often misdiagnose us and mistreat us. I had the headaches, too, where I couldn’t speak or think straight. My son is now having them and my insurance is denying an MRA for him.
    I will keep fighting the insurance! I’m so glad you found a Doctor that knew and correctly diagnosed you.

  2. Dana on May 16, 2019 at 11:08 pm

    Happy to hear you are fine now and thank you for awareness !
    As an Hht particient , the headeche syndrome is a part that I’m less familiar with. I guess it occurs when you have Avm in your brain.
    Good luck ,you are strong person !

  3. Karen Topaz DRUCKMAN on May 17, 2019 at 12:02 am

    I found this story not only touching but informative and would love to share it with the HHT community in Switzerland. would cure hht and Maleny be willing to allow us to translate it and post it on our website and/or on our Facebook page?

    Thanks in advance,

    Karen Topaz Druckman
    HHT Swiss

Leave a Comment





This site uses Akismet to reduce spam. Learn how your comment data is processed.