"Being natural caregivers, we figured out what we could do locally so no one would ever have to go through this again.“
My husband Allan and I consider ourselves very responsible adults and have often been accused of being overprotective. The term “caregiver” always felt right and natural. Family is the most important element in our lives, and we care deeply for each and every family member. Nowhere was this more obvious than in our dedication to protecting our children, grandchildren, nieces and nephews and their children from the problems associated with hereditary hemorrhagic telangiectasia (HHT). HHT is a genetic disease that can cause death or other tragic outcomes if not diagnosed and treated.
Although we were aware of the genetic disease in my husband’s family, we did not know about DNA testing, the need to screen for organ involvement, or the connection between HHT and PH. What we knew about were nosebleeds, possible blood transfusions and the need to get “checked out” before becoming pregnant. Ever-vigilant, we made sure our daughter had a pulmonary evaluation before her wedding date.
When we learned about DNA testing, my husband, our children and grandchildren were all tested. We learned who did and did not have HHT. We read everything we could find on the HHT Foundation’s website. We became committed to increasing awareness of this “silent killer.” We urged our nieces and nephews to get tested, mostly because they were starting their own families. They refused. It became a rather uncomfortable topic at family get-togethers. My oldest son wrote a letter to his cousins, citing some tragic cases of children dying or having strokes or other complications due to not knowing about HHT until it was too late. I thought it was a bold and courageous move on his part to risk alienating his cousins but one that was necessary.
In November 2008, shortly after he sent his letter to three cousins, we got a call that one of them, our niece in Florida, was very ill. We had assumed she had HHT because she had frequent severe nosebleeds, but recently she had been having some breathing problems and was diagnosed with exercise-induced asthma. Unaware of the possible connection between HHT and “breathing problems,” we were shocked to learn that a pulmonologist had just diagnosed her with PH; she could be dying.
Everyone moved into “crisis-caretaker” mode, making calls to a specialist who treated HHT and PH, getting our niece quickly transported 500 miles to the Augusta, Ga., HHT Center of Excellence where she was diagnosed with Class 4 PH, right heart failure, and water retention at a critical level. She spent weeks in the hospital being stabilized. While there, she tested positive for HHT. There was no need to continue talking about HHT testing. The cousins all got tested, and no one else was positive.
We couldn’t be with our niece, who lives 1,200 miles away. We called her every day, and she sounded so weak when she said, “I don’t want to die; my little girl needs her mother.” We didn’t know what to do beyond providing a long distance shoulder to lean on, but we figured out what we could do locally so no one would ever have to go through this again.
We started a support group in Philadelphia. We spread awareness on the Internet, on Facebook groups, to doctors and to the media; we talked about the potential consequences of not being diagnosed. We talked about our niece and how untreated HHT and subsequent PH had changed so many lives. We talked about how her parents and husband shared caregiving roles as they adjusted to changes: trips to the hospital, daily preparation of Flolan®, preparing a PH-friendly diet. All this as our niece faced challenges like showering with a Hickman catheter, taking medical leave from work and trying to spend meaningful time with her husband and daughter.
Three years have passed. Our neice is doing well. The current medications are keeping her PH symptoms under control, but the HHT-related nosebleeds are still a problem, in part because some of the necessary PH meds affect bleeding. We increased our involvement with the HHT Foundation, reaching out to give care and support to people all over the world. We feel that we are making a difference, and you can, too.
Read more about PH and HHT | HHT Foundation International
By Gwen Olitsky, MS, PH and HHT Caregiver
This article was first published in Pathlight Summer 2012