14. Testing and Diagnosis

Remember WAY back in post number 6- I talked about needed to split the stories of the birth family journey and the journey toward finding out more about HHT? Well…it’s time to come back to the HHT piece of the story.

At this point, it’s near the end of June 2019. Only a little more than two months had passed since I got the results back from AncestryDNA, and so much of my life had changed already. It was time now to begin testing to determine whether or not I had HHT (Hereditary Hemorrhagic Telangiectasia). The plan was to begin with clinical testing. It was explained to me that, because AncestryDNA had already linked me to a family who we knew were positive, DNA testing wasn’t immediately necessary. Clinical testing was indicated because I showed additional symptoms (nosebleeds).

The first test was referred to as a bubble echo, or bubble study. It’s just like a regular echocardiogram (ultrasound of your heart), except you also get an IV, and at the end of the study, a physician injects agitated saline into your IV. They watch the micro bubbles travel through the right side of your heart, and monitor whether any of them make it back to the left side- and if they do, how many, and how quickly they get there.

In a normal study, the lungs take care of the micro bubbles, so they aren’t expected to return to the left heart. I was watching that screen. I’m not a cardiologist, or a physician of any kind…but I know what I saw, and I was pretty sure it wasn’t good.

One of the perks of working in the facility where you’re receiving your care is that your care team is made up of your friends. So, shortly after I arrived home from my study, I got a phone call from my friend, Dr Patel. He had already had the chance to review the report…as I suspected, it wasn’t good. He confirmed that I failed the study, and would now need a chest CT (cat scan) which would identify where, how many, and how large the AVM(s) were in my lungs. The bubble study wasn’t as specific, but based on the “grade”, he was confident that “we’re going to find something big in your lungs”, and he was pretty certain I’d need intervention for that. He told me “AncestryDNA may have literally saved your life, and the lives of your kids”. That was heavy, heavy, stuff…considering I almost never did it.

Wow. OK. Another deep breath. Another bunch of mixed feelings. On one hand, I was (and still am) so thankful to him for the personal care. I was relieved for the knowledge…I still can’t believe how close we came to never knowing any of this. I had a few questions for him that he answered that day. We were about to leave for vacation- can I still go? Yes. Can I get on a plane? Yes. You’re sure this can wait a few weeks? Yes. Anything I can’t do, any restrictions at all? “Scuba diving. You can’t do that.” No problem…it’s never been on my list!

Once he said things could wait, I intentionally scheduled the CT, and HHT clinic follow up for after vacation. We were going to visit National Parks we had never seen, and I wanted to fully enjoy that trip. I didn’t WANT to know the details about what was in my lungs, because I didn’t want to worry. So, on his advice, I put it out of my mind temporarily and our family had a wonderful vacation.

When we got home, I had the chest CT, which confirmed four pAVMs (pulmonary arteriovenous malformations) aka abnormal blood vessels in my lungs. One in my lower left lung was large enough that it needed treatment. One in my lower right lung was questionable for treatment, and two in my upper right lung were too small to treat. I followed that appointment with a visit to the HHT clinic, where I met the physician who is the director of the HHT Center of Excellence at the facility, as well as a genetic counselor and a few other care team members who had a LOT of information for me that day. Also, since I had now tested clinically positive, blood was drawn for genetic testing. If I were to test positive (which was expected), each of my children had a 50/50 chance of also testing positive, so they would all need to be tested as well…and this is where I started to really worry. It’s one thing to find out something for yourself and manage it. It’s something else entirely to realize you may have passed something to your children that you didn’t even know you had.

I have a daughter, and twin boys (fraternal). My daughter and the oldest of my boys, Maggie and Connor, in my mind, were most likely to test positive. They both have nosebleeds like I do, and they’re genetically more like each other. The youngest of the boys, Brady, seems less like them genetically. He has had occasional nosebleeds, but far less. He’s just “built” differently- Maggie and Connor look more like each other, etc. Generally, I just felt like that was the likelihood.

Of course my DNA came back positive, so all three kids sent back “spit tests” for their DNA. Maggie’s specimen was insufficient, so she had to go back for a blood draw, and her results were then delayed by a week or two behind the boys.

I was at work when the call came. It was lunchtime and I was in the cafeteria with a few friends. Maybe I should’ve let it go to voicemail but I couldn’t…I had been waiting. It was Katie from genetics. She was calling to tell me that BOTH my boys were positive. I just felt the air go out of me. Unprepared doesn’t begin to cover it. Somehow I had really convinced myself that Brady would be negative. And honestly, what did it matter? It broke my heart that ANY of my kids were going to have to deal with this…but ALL of them? And, I realize that I didn’t have Maggie’s result yet, but I was sure she would test positive. Her nosebleeds were just too similar to mine.

We went back to work after lunch, and thankfully, it was a slow day. I was having a hard time getting it together emotionally, so my boss sent me home. There wasn’t much time left in my shift anyway, and she (and our team) is AMAZING. I walked out to the garage and got in the car and called Derek and told him. I could barely get the words out…I’m not sure when is the last time I cried that hard. I just felt so BAD about it. I KNOW it could be worse. I AM thankful for the knowledge, and that we have access to healthcare, and for many, many things, believe me. But in that moment, I was really, really sad.

A week or two later, Maggie’s test confirmed that all three kids have HHT just like their momma.

Around the end of July, I had a consultation with Drs Patel and Ristagno. Dr Ristagno (Ris-tah-nee-o) is also an Interventional Radiologist- he and Dr Patel partner to treat patients like me. It was the first time I had met Dr Ristagno, and I really liked him. He was calm and gentle, but obviously knowledgable and confident. It was clear that he and Dr Patel were comfortable together, which also made me happy. They explained the procedure to me, answered all my questions, and we signed consents. Before we left, we got to talking about how my diagnosis came about. As anyone reading this blog knows, it is not a short story, but I tried!

When I finished, he just looked at me, and said, “Well…I think you’ve got a pretty amazing hairdresser.”

He was absolutely right.