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!)

picure11-1

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).

elforblog-2

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.

 

18 Comments

  1. Christina Friday-Domke on February 22, 2017 at 10:36 pm

    Wonderful blog. Thank you for getting involved.

  2. Robert Domke on February 22, 2017 at 10:45 pm

    Well said. Keep up the wonderful work. Love you guys !

  3. Sue jackson on February 23, 2017 at 12:59 am

    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

  4. Barbara Grauel on February 23, 2017 at 1:01 am

    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.

    • Cassi Friday on February 27, 2017 at 3:06 pm

      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.

    • Teresa on February 27, 2017 at 6:23 pm

      It’s a vein disorder. Just google HHT. It’s a lot easier than trying to explain.

    • Jill Hodge on February 27, 2017 at 7:03 pm

      Hereditary Hemorrhagic Telangiectasia
      Genetic disorder of the blood vessels.
      Also referred to Osler-Weber-Rendu
      Hope this helps

  5. Danielle Garcia on February 27, 2017 at 5:18 pm

    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 🙂

  6. Susan on February 27, 2017 at 5:47 pm

    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.

  7. Stacey Waltz on February 27, 2017 at 6:12 pm

    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.

  8. Angie Hall on February 28, 2017 at 12:57 am

    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.

    • Cassi Friday on February 28, 2017 at 4:05 pm

      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.

      • Stacey Waltz on February 28, 2017 at 5:25 pm

        Hope your mother-in-law’s cauterization is successful. Please keep us posted. My daughter had it twice but still gets severe nosebleeds.

    • Stacey Waltz on February 28, 2017 at 5:24 pm

      Never heard of this. Thanks for sharing. I’m going to ask my doctor about this.

  9. Robin Smith on February 28, 2017 at 9:26 pm

    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.

  10. Laura Paul on March 1, 2017 at 3:58 am

    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.

  11. Seraphine on March 1, 2017 at 7:02 pm

    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 🌱

  12. Lani on March 3, 2018 at 7:55 am

    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.

Leave a Comment