When You Marry Into HHT
Greetings, new friends! My name is Cassi Friday and although I married into HHT, this disease has a strong hold on my life. I hope I can contribute to this wonderful blog from the perspective of a wife, mother, scientist and advocate for my loved ones with HHT.
I am a medical researcher with a background in pediatric cardiology and obesity. As a scientist and lifelong student, I want to know as much as possible about the disease that affects my husband, his family and now our 7-month-old daughter. What is the penetrance? What is the incidence of cerebral AVMs? What is the standard of care for pediatric screening?
As a mother and wife, I also want to know as much as possible about this disease from a different point of view. How do we tell our daughter about HHT? Why do we have to keep explaining this disease over and over to our physicians? How do I get blood stains out of the carpet? (Seriously, comment your best tips for carpet stains and getting blood off the walls without taking the paint!)
Anthony and baby Eleanor both have HHT Type 1.
I met my husband, Anthony, in Lexington, KY, right before we started our first semester of graduate school. He told me soon after we started dating about his constant nosebleeds and how doctors thought his family had HHT. No one had been genetically diagnosed or screened, but the generational symptoms were definitely there.
Luckily, my husband’s brain and lungs are currently AVM free (I may have forced him to go get scanned). Since learning this, his mom has been screened and presents with a small cerebral AVM and has had a pulmonary AVM coiled, and my brother-in-law has had a cerebral AVM surgically removed.
As it came time for us to start our family, I wanted to have as much information about HHT as possible. We saw advanced fetal care specialists throughout our pregnancy because our small, military hospital had actually experienced a baby born with HHT several years back who had a complication. This resulted in the need for the baby to be air-lifted to a larger hospital, so they were hesitant to take on another HHT family (although we still received some of our prenatal care at this hospital and it was phenomenal).
Little Eleanor is getting her first HHT screening in March.
When I was pregnant, my mother-in-law had a genetic test to see which HHT mutation the family has, so the genetic testing for our daughter would be easier. The results gave the diagnosis of HHT Type 1, a mutation in the gene encoding the protein, endoglin.
We had a great pregnancy with our daughter, Eleanor, and she was born a couple hours away at a University medical center. A few days after she was born, she had a blood draw and her blood was sent for testing of this gene. She is also positive for HHT Type 1.
In a couple weeks, we will be visiting St. Louis Children’s HHT Center of Excellence for her to be screened. Her condition may be a bit complicated because she also has a mild congenital heart defect (patent ductus arteriosus) that has not resolved. I’m looking forward to blogging about this experience and I hope it can give some insight to others about the process of pediatric screening.
Thank you all for your bravery, advocacy and testimony. I’m so happy to contribute to such a great community.
Wonderful blog. Thank you for getting involved.
Well said. Keep up the wonderful work. Love you guys !
HI, my name is sue from Ohio. I also married into hht . Both of our sons have it and now one of two grandaughter has it. And yes the older u get the worse it is. Thank you
I worked in a hospital for over 30 years and I have never heard of this. What does HHT stand for? I’m so sorry Ellie has it to. I look forward to your blogs and you educating us about this.
Hi Barbara! Thank you for reading about HHT. It stands for Hereditary Hemorrhagic Telangiectasia. It causes blood vessel malformations and is sometimes called Olser-Weber-Rendu syndrome. You may have heard of that one. It isn’t very common and it is hard to diagnose. The most common symptoms are recurring nosebleeds from telangiectasias in the nose.
It’s a vein disorder. Just google HHT. It’s a lot easier than trying to explain.
Hereditary Hemorrhagic Telangiectasia
Genetic disorder of the blood vessels.
Also referred to Osler-Weber-Rendu
Hope this helps
Can you Google it? The reason I ask this is because whenever I try to say it, it does not come out right because I use talk and text. I would not even know how to begin to spell the words. It’s a blood disorder.
I married into HHT as well! Even when you don’t have the disease, it still completely engulfs your life. My husband and my 5 year old daughter have HHT/JPS. I completely feel where you are! To get out blood stains soak with salt and water – may take awhile, but it gets them out 🙂
Thanks for your post. I, too, married into HHT. My tip for removing blood from carpets and walls is peroxide. Spray the bloody area and wipe the excess fluid once it stop bubbling. I usually use a carpet cleaning machine on the carpet to remove the excess fluid.
Peroxide is safe for babies and pets. I have used it on a variety of fabrics and none have stained. I also use it to get blood off clothes and other fabric items. If the item is small enough, I soak it 25-30 minutes in cool water and peroxide before washing.
My family has a history too on my mother’s side. She had an AVM in her brain and it was cauterizes. My sister and I have them in our lungs and have had them coiled. My Doctor was Dr. Justin McWilliams at UCLA. He was absolutely amazing! I had my three daughters genetically tested. Only on has a tiny AVM in her lungs and needs to have it monitored every 5 years. She also has profuse nosebleed as do I. Recently I started having severe bleeding on the roof of my mouth. I was referred to a ENT at UCLA Medical Center to cauterize it. That is where I had my lungs coiled. It’s an HHT Center of Excellence. I highly recommend finding a HHT center of excellence. Best of luck to you and your family.
I have HHT. I am a patient at UNC center of HHT excellence. I have been started on transexemic acid 650mg TID to help with nosebleeds. This new medication has changed my quality of life! My nosebleeds are less frequent and less bleeding! I would highly recommend this treatment.
That is awesome, Angie! I’ll have to look into this. My mother-in-law has gotten one round of cauterization and she has seen a slight improvement in her nosebleed severity/frequency.
Hope your mother-in-law’s cauterization is successful. Please keep us posted. My daughter had it twice but still gets severe nosebleeds.
Never heard of this. Thanks for sharing. I’m going to ask my doctor about this.
Thank you for the information
Hello Cassi,
As a woman with HHT, a sister of an HHT positive woman, a mother of 2 . . . well, you get the picture! My son had a terrible time with the nosebleeds prior to a laser cauterization.
TO CLEAN UP THE BLOOD: Oxiclean, oxiclean, oxiclean. Mix it with HOT (the hotter the better) water. You can dissolve it into hot water and run it through a steam cleaner, use it with a mop, sponge, cloth, etc. It is peroxide based (hence the oxi), but it’s more specifically for this purpose. It really doesn’t foam much, which is helpful. I actually prefer Clorox 2 (their oxygen bleach) for clothing. You can just dab some on, add a bit of water (hot is best) and leave it – sometimes even leave it for a day or two.
It’s always nice to hear of others who are dealing with HHT. It runs in my dads side and I was diagnosed with it on Feb. 13, 2014 with an AVM in my lung. Go figure that the beginning of March when I was suppose to have surgery to remove it, we discovered we were expecting our oldest. The Cleveland clinic is an amazing resource on the east coast that has an amazing team of doctors who focus on HHT. I currently live in Louisville and would love to know what all you’ve been able to have done for your daughter.
Peroxide can bleach, use with caution. I use scalding hot water and hand soap. And I mean scalding. Living with HHT, thoughts with you all ????
Aw, this was a really nice post. In concept I wish to put in writing like this moreover – taking time and precise effort to make an excellent article… however what can I say… I procrastinate alot and under no circumstances seem to get one thing done.
Hi! I come from a family of HHT. My dads side of the family has it. He has a brain AVM he has never had treated. We have type 1. I was screened before getting pregnant with no AVMs and had nosebleeds frequently. Once I gave birth I stopped having nosebleed, my son is now 2. He was tested around 18months and was positive. He has had no screening yet.. I hate the thought of him having to be sedated for an MRI. The UNC chapel hill HHt center recommends to wait until he is 3 to be screened . What have y’all heard about screening infants or kids?
Hello. I come from a large family with my dad’s side being the sufferers of HHT. Myself and my two sisters have it along with my dad and a host of aunts, uncles, and cousins. My sisters and I never knew about our family history of HHT up until a year ago. I am in my early forties and my main concern has always been the nosebleeds. I’ve had them ever since I was a child but didn’t know why. I guess what I’m saying is that it’s good that you have an early diagnosis of HHT for your beautiful little girl, but that for the most part she will lead a relatively normal life even if the HHT was unknown to your family. HHT primarily starts affecting people when they are older. I wish your family the best of health!
Hi Cassi,
Thanks for your blog. Just a query regarding hht, just wondering if you have any information on this particular topic.
Has there been a link between hht and cerebral palsy, my two year old son has been recently diagnosed with mild cerebral palsy affecting his lower legs. I have hht myself with very small avms on my lungs, I have yet to test him for hht. Just wondering has there been link between cerebral avms and cp? Thanks.
Well said. Keep up the wonderful work. Love you All of you ! and Congo!!
great Love you All of you thanks for sharing…