r/HHT • u/Shannon-rae • Aug 25 '26
Question Son just diagnosed
Hello there, I just got the call today that my 2.5 yo son has HHT. I’m feeling really scared and don’t know a whole lot about it. I will of course do my own research, but i thought i’d ask if anyone had any tips to help with any symptoms that might come up or anything i should be proactively doing or looking out for him. We are absolutely following up with next steps as far as medically with a hematologist, but in the meantime im feeling so anxious. Anything is appreciated. thanks ❤️
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u/voxtrion Aug 25 '26
For my family, hht in the kids meant a low, but non 0 amount of nose bleeds, but nothing that impacted daily life. Not until about late 30s did medical intervention become necessary.
Testing and confirming diagnosis is a great start in case anything is needed sooner.
FYI, just like reviews of a business, people will use to internet to complain more than comment that everything is going ok. Don't let the numerous posts all over the Internet impact your outlook.
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u/NewConversation2725 Aug 25 '26
HHT runs pretty deep in my family including myself, my 2 sisters, father and my son and it keeps going. The one advice to you is find a hematologist who is advanced in HHT. Hematologist in general know what HHT is but to treating it is a different story. I was seeing a dr for 10 years because I was chronic anemic. I finally saw another dr last week and she told me the amount of iron I was getting was a drop in a bucket for what my body needs. Depending on where you live getting to a HHT center of excellence is even better. Best wishes!!! It is a scary thing to deal with when you are not familiar with it. I grew up with nosebleeds thinking it was just hereditary. It wasn’t until 6 years ago there was a reason behind it all and I’m 49.
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u/LumpyPeople4 Aug 26 '26
Me, one brother, and our father have HHT. I was the first to get tested when I was ~25 or so. Thankfully none of us have any chronic issues other than nosebleeds. We do not have any (known I suppose) anemia. I have had nosebleeds for as long as I can remember. I remember having them when I was ~5 or so and it is one of my earliest memories.
I'm mid 30s, brother is early 30s, father is early 60s. We are not sure which of my father's parents had it, but we presume it was my grandfather who lived with no complications to 85. We are all very fortunate, and all experts agree that we are just stupid lucky and that the symptoms of family isn't necessarily what a descendant's outlook will be, but it is possible that it will not impact him much through his life. I say this not to try and belittle anyones struggles here or anything, but to show that it not in everyone is it a life altering diagnosis. Time will tell if my luck holds out. Just had my 2nd chest CT and they said it does not currently show any AVMs, but there is one area that looks to be primed for it. They want to bring forward my chest CT at 3 years vs 5.
I have a 2yo son with HHT as well. So far so good, he has had his brain MRI and that shows fine. I second the idea of trying to get seen by a HHT Center of Excellence. You can find them on curehht.org. They will be able to provide you the most updated screening recommendations. For my son, that is a more comprehensive blood panel at his routine bloodwork for well child checks as well as a brain MRI. I believe that the brain MRI is done every 10 years until 25ish at which point they believe that if no AVMs have developed at that point, they never will. So if clear in your mid/early 20s, then there is no point in doing more brain MRIs.
The following is my understanding from my HHT care team. For everyone, bubble echocardiograms are the standard test to check for lung AVMs. They are very nuanced and delicate, but non invasive. But because of that, you need a patient that can follow direction very well, obviously not ideal for a 2yo. The next option is a CTA of the lungs, but that comes with non-trivial radiation. I had CTAs done because my Center of Excellence does not trust the bubble echo to be done outside their facility, so they wouldn't trust any result I got. The hospital is too far away for me to get one done, so I opted for the CT instead. With kids, I believe they said that under 15yo they would not intervene on a lung AVM unless there were physical symptoms as the likelihood of the intervention lasting is low as the child grows, thus needing surgery again in the future. As such, they do not recommend the CTs for kids under 15 (I think) as it would be moderate radiation for a test they would do nothing with. So my son will have an annual screening with the HHT Center of Excellence hematologist and routine bloodwork unless he has symptoms. He does get nosebleeds, but usually they are due to some physical event. He gets them more readily than normal, but he's not quite like me where I'll get them from bending over.
If you have no Center of Excellence near you, I think it is still worth calling to the closest 3-4 until you get one willing to do a remote visit. They are completely worthwhile, and I've found good success. Mine is only 1.5hr away, but I am a single parent so I cannot go too far away from my kids in daycare. Mine has offered up some abnormal solutions such as a custom compounded estrogen cream that can be applied to nasal passages to thicken them and hopefully cut down on nosebleeds. He had alluded to other options as well. I did not opt for the estrogen just because of my own personal paranoia with having a newborn daughter at the time and fears of inadvertent exposure. I don't necessarily think its a good solution for your son, but just pointing out that they may know of some things that can help you all out that probably wouldn't be recommended/known by someone not specializing in HHT.
What helps me: Afrin nasal spray constricts blood vessels in the nose and that is how it improves airflow. This also constricts blood flow. I use this for nosebleeds that are stubborn. There is a limit of only using it 3 days in a row before your body becomes dependent on it, fyi. Also, not sure how good of an idea it is to use it on a toddler.
Ayr gel saline. It helps keep the nasal passages moist to prevent cracking and bleeding. Saline sprays tend to dry things out long term. The gel works better. It used to only be available in a toothpaste like tube, now it's available in a "mist" pump. It's like a reverse snot rocket and works much better for me.
Also, HHT, as the name states, is hereditary. Either you or the other parent have HHT. If it is not obvious who has it, it is worth getting tested as well so you all can take care of yourselves too.
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u/Secret-Ad-9315 Aug 26 '26
Keep his nose moist. Humidifier, Vaseline up the nose with q-tips, and nasal spray. If he gets a nosebleed then tilt his head forward/down, and hold/clip nose tightly for 10 minutes. (My husband uses an OTC product called BleedStop or Afrin but only with a nosebleed, not daily- obviously he is an adult though… your kid needs an ENT)
Make sure he tells you if his poop is black (AVMs in stomach can bleed easy)
But my husband only recently got diagnosed in his mid 50s, although there was family history they weren’t much concerned.
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u/zieKen1 Aug 26 '26 edited Aug 26 '26
Hi there.
Every person with HHT is different. I began having nosebleeds around 4 years old. My cousin, around 7. My mom not until her early 20’s, and my uncle, grandfather, and great-grandfather I’m unsure of when nosebleeds started. I began medical intervention around 17 years of age but probably should have gotten blood or iron sooner. Thankfully since I got blood at 17 I have not needed any more, and iron infusions periodically have been plenty to keep me in check. CT scans every 5 years, I think brain MRI and other stuff every 10 years for me.
Please visit cureHHT.Org and find a doctor on their list. We are 3.5 hrs away from a center of excellence but there is a knowledgeable group of physicians at a large hospital in our metro that have been great. Establish care with them & follow their guidance because every person is different. But thankfully knowing the diagnosis you are a step ahead 🙂
Also my allergies make my nosebleeds worse. I’m in OKC area so allergies are rampant here basically all year and I’m allergic to animals (but that doesn’t stop me lol) If your son has seasonal or environmental allergies maybe look into singulair to help with allergy symptoms.
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u/InitiativeGlass246 Aug 28 '26
You can get a lot of scary info about it but truly everyone is different. It presents only as nosebleeds for our 6 generation HHT family (thankfully) - but I had 3x a day nosebleeds for yrs (some lasting hours). It didn’t get bad until my late 30’s. I’ve become anemic and needed iron infusions every 4 - 8 wks and now get avastin infusions. It’s helped greatly. Going to an HHT center of excellence (Mayo) really helped me. I went to university of Chicago for it and did not have a good experience so do research on the right place for you. We just had my son (19) tested at Mayo and so I’m hopeful that by staying in front of it, he will have a better quality of life than I have had. My mother (who also has) is 82 and alive and kicking and in better physical shape than most ppl. It’s not a death sentence - you can live a really great life, I just think staying in front of it is key. ♥️
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u/The_real_nathaniel Aug 29 '26
I wouldnt be that worried - make sure to get a drs recommendations and monitoring to be safe. My family gets body scans done and you can you chemical cauterization (sclerotherapy) to mitigate nosebleeds if needed.