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!)
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).
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.