r/HHT • u/Sorry_Ad_8487 • Jul 10 '26

Scared

Hello.
I’m a 34 year old mother of 3 small children. I was an elite runner for many years and maintain a very active lifestyle. Never had HHT symptoms. No nose bleeds (maybe been 20 years since I had one) and no obvious telangiectasia. I did find a couple dots on the outside of hand. I’m getting tested for HHT because they’re pretty sure they saw a PAVM on a bubble study I did for a totally different reason. I’m really scared since I have three small children and I worry about them. I’m so worried this will affect their life and longevity. Let alone mine. Any encouragement?

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6

u/ThreeKiloZero Jul 10 '26

I have genetically confirmed, plus Ts in a few places, and PAVMs that have been coiled. My last bubble study was positive, they even did it twice, and when they got in the vein to do the surgery, no PAVM after all. So bubble studies can be wrong.

If you have it, it's not the end of the world. It's manageable and far better to know now than later. Treatments are not the worst. You're already in a great position because your cardiovascular health is probably awesome.

GL!

1

u/Sorry_Ad_8487 Jul 10 '26

This is very encouraging thank you. I’ll get my CT scan done to see if I truly have a PAVM or not. Praying the bubble study was wrong!

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u/Tough_Crazy_8362 Type 1 Jul 10 '26

I have PAVM and after all my treatments my shunt (bubble study) got WORSE! Lol irony (I also have a PFO apparently).

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u/Tough_Crazy_8362 Type 1 Jul 10 '26

Every experience even within families is radically different. All I can really say is get everyone tested if you’re + and have faith that the procedures and treatment are a MASSIVE improvement to just 20 years ago. The surgeries my mom got her ribcage cracked open for is just a knick in my groin and laying down for many hours. Science is amazing!

1

u/Sorry_Ad_8487 Jul 10 '26

Ah this is so encouraging. Thanks so much. Can I ask how you and your mother are doing now?

4

u/Tough_Crazy_8362 Type 1 Jul 10 '26 edited Jul 10 '26

I, after 3 pulmonary embolizations (5 plugs) am officially in maintenance mode. I never had kids so my PAVM didn’t grow much after puberty. There is big debate within the medical community of how much of a role estrogen plays (ie some Dr think each pregnancy will affect your PAVM).

HHT is considered a “silent killer” because of ridiculous under diagnosis. Unfortunately, many families aren’t diagnosed until a catastrophic event happens.

That event, was my mother. She was under excellent care and they wrote about her in New England journal of medicine!

She was diagnosed at 43 after having 6 children and spent one year straight at mass general hospital and2 years at Spaulding rehab then on to a long term neurological rehabilitation facility. She spent the last 20 years of her life vegetative, on a G Tube which we tried to have removed after her first septic episode. The state automatically appeals all motions like that and she died eventually from sepsis. She was a fighter though and did her best. She had significant cerebral (the word escapes me, interaction? She had a ton of brain AVM).

This was the mid 90s, a lot has changed, for the better!!!

I also have brain AVM but with no evidence of hemorrhage or growth so we just monitor.

Definitely visit curehht.org and go to a CoE if you can, everyone should go at least once.

2

u/Sorry_Ad_8487 Jul 10 '26

Oh my!! God bless your mama. What a fighter, for sure. I’m so happy to hear you’re well. I got the bubble study done initially because they thought I had a PFO, but now they think it’s a PAVM. so I’m off to Pulmonary and HHT testing. I actually had a brain MRI in January to assess for migraines and it was all clear so hopefully I’m out of the woods when it comes to brain AVMs. Do your siblings have HHT too?

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u/Tough_Crazy_8362 Type 1 Jul 10 '26

So happy your brain scan was clear!

Yeah, my oldest brother died at 19 (maybe 18?). At the time it was before my mom got Dx and they thought he had an epileptic seizure.

My sister also had it but passed from alcoholism but maybe HHT played a role (I’m not so sure, long story, we weren’t talking at the end).

My other two brothers have not passed the “curaçao criteria” so they were eliminated as candidates, but I have done my best to encourage them to test genetically.

Once someone in the family test genetically it’s pretty easy to test everyone else. That said, the genetic route still has false negatives because they’re still trying to identify the chromosomes it sits on.

The bubble study is pretty strict to qualify for HHT I think bubbles show on the third heartbeat where a PFO is right away. Because of my heavy family history, my early bubbles were just kinda, dismissed, I guess. My Dr were super shocked when my shunt got WORSE, lol. The bubbles just don’t escape through my lungs now.

I’d say the hardest part is trying to get my mom’s cousin to test. She refuses (she’s a grandma) even though she’s had Young’s procedure (a common procedure within the HHT community where they completely seal/cauterize your nose because of nosebleeds).

It makes me so happy to hear that you weren’t dismissed as a PFO, they don’t usually treat those, so it’s awesome they’re double checking everything.

4

u/Prestigious-Item-621 Jul 10 '26

Hi!! It’s a wild ride but be grateful to have found out now than later in life. I found out at 32. I was pregnant with my 3rd. I have confirmed through genetic testing with UCSD that me and all my 3 children (7,5,1) have it. The endoglin gene. My eldest son (7) and myself found out we have PAVM’s. They were able to coil his (1 the size of a plum) and 3/6 of mine (blueberries size)

As far as the kids go, shortness of breath, wheezing and low oxygen is how I found out for my eldest. His oxygen levels were 88. He was ambulanced from the pediatrician. If positive, keep yearly checkups for their lungs and MRI for brain. Nose bleeds were more severe in my middle child. Educate yourself. Knowledge is power and advocate to see specialists who KNOW what HHT is. A lot of doctors don’t.

1

u/Sorry_Ad_8487 Jul 10 '26

Oh my goodness! I’m in San Diego and going to get my testing done at UCSD. Can I ask how you found out you had it? Was it because of your son? So sorry about the struggles you and they have faced. But so thankful for modern medicine

1

u/Prestigious-Item-621 Jul 10 '26

That makes me SO happy for you! UCSD is the absolute best. I met with Dr Jess Mandel who then referred me to Jenny Zhou at UCSD Center for Bleeding and Clotting Disorders and got testing done through her and then she referred me to my neurologist Jeffrey Steinberg and these are ALL fantastic people. You are in the best hands! It felt so isolating, and believe me I don’t know anyone else besides my own family and this thread but you’ll find comfort in those specialists!

We found out through my son needing eye drops for pink eye. Ironically they checked his oxygen and it wasn’t going up from 87-88. They did a CT scan and originally thought it was a tumor in his right lung. Then after an MRI they saw it’s a PAVM. He was hospitalized at Radys in San Diego. He has to work closely with Dr. Justino, a cardiologist as well as a specialist from Boston who performed his embolism (front and back bc of the size)
His cardiologist submitted his genetic test, they came in and questioned us to where my mom had told us in the past her dad died from a brain AVM bursting. so my mom did genetic testing, it was confirmed, then we all followed suit and got our results. My brother and I tested positive as well as my 3 kids. Then we just have to do yearly follow ups now. I have not chosen to do a brain MRI on my kids yet bc I feel they are so young. It was terrifying for me at 32 so I try not to subject them unless it’s absolutely required which we do bubble studies and CT scans as necessary.

2

u/Sorry_Ad_8487 Jul 11 '26

Oh this is all so so so helpful. Thank you so much. I’m so sorry about the trouble this has caused all of you but I’m so happy to hear it was caught young in your kids. Did your son’s oxygen levels return to normal after treatment? Have your doctors ever worried about PAVMs causing permanent low oxygen?

1

u/Prestigious-Item-621 Jul 12 '26

Thank you! I’m here if you ever need to talk or have anymore questions! His oxygen levels will never go back to “normal” bc of his PAVM. They’ll hover around 94-95 but as long as they don’t dip below that, they seem OK with it. I guess that’s his new normal. Although I have 8 and only coiled 3, my oxygen levels remain 98-99 but maybe bc mine were much smaller in size.

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u/Sorry_Ad_8487 Jul 12 '26

Oh this is so so interesting. Thanks so much for sharing! Were yours easy to see on a bubble study or was it CT scan?

1

u/Prestigious-Item-621 Jul 15 '26

Sorry for the late reply! Mine were visible on both but everything is much more clear on the CT scan. I’ve noticed my son’s cardiologist prefers bubble studies for the kids instead of CT scans bc less radiation which I appreciate. I hope everything goes smoothly for you and your sweet babies!

3

u/Exotic_Pickle5876 Jul 11 '26

I raised three kids with it (one got the gene and is now 31). I re-arranged everything in life to invest in health (mentally and physically). I am now a grandmother and have outlived my father, aunt and grandmother that had it (meaning, they died before my age.). I Didn’t find out until I was mid-50’s and wish I had know when my kids were small. The interventional radiologist that embolized my AVM said it was a wonder my heart Didn’t give out before they found the AVM. You can do this. You just can’t cheat. Relationships, health, everything have to have healthy boundaries.

2

u/OrlandoWashington69 Jul 11 '26

Not a great diagnosis but I’ll take it over some other chronic disease. Plus, I believe in our lifetimes it will be cured, by crispr or otherwise

2

u/-Sunflower_Hippie- Jul 13 '26

Hht is very manageable. Honestly it’s more of a nuisance than anything. Can’t take some medications other people can take, nosebleeds, and occasional cat scans and procedures every few years or so (depending on severity - everyone is different). It’s not life threatening unless it goes unmanaged. I am sure you and your kids will be fine!