Every story is unique, every journey different, but we’re all in this together

We didn’t really know HHT was HHT until my mother was diagnosed in middle age by her symptoms alone.  Before that, we believed it was just nosebleeds that ran in our family, beginning with my grandmother.  We didn’t have much reason to believe otherwise. Grandma never had much trouble other than nosebleeds.  I never recall her even having any emergency treatment for them…no ER visits or nose packing.  After my mother’s diagnosis, the nosebleeds continued to worsen and she eventually started bleeding intestinally.  She died just before her 80th birthday.  But she endured through many infusions, ER visits, nose packing, a skin graft in her nose and more.

There were 6 of us kids.  By the time my middle brother was 36 years old he suffered an aneurism…it left him handicapped, no short term memory, his speech very hindered.  My oldest sister had many AVMs in her lungs and embolizations were relatively new at that time. She had a stroke during a procedures and became handicapped and her speech suffered. Thankfully, the procedures have become more effective.  She recently died but endured many embolizations, blood/iron infusions because of internal bleeding and she had several strokes over the years.  She lived a full life despite these complications.  Her sense of humor was always infectious. I was always amazed by her ability to adjust to her circumstances.  I know that those closest to her knew the hardest of her days and her moments of frustration with the disorder.  And I am grateful to all the great doctors and our family/friends for the care of my beloved sister.  I have another brother who has regular infusions due to blood loss with HHT. He also has had the benefit of an experimental treatment that has served him well (Avastin).  He continues to endure the necessary treatments as needed.

Somewhere in the middle of all the above, I noticed my oldest daughter was having regular nosebleeds and grew concerned.  I had nosebleeds off and on since childhood and mostly attributed them from being overtired at times.  My youngest daughter was having migraines which grew to be more severe from 2nd grade through high school.  By high school she was missing a day a week from school with excruciating headaches and a few visits to ER for help.  And a visit to a neurologist too.  Nothing was found at the ER nor by the neurologist–she was given pain meds.  At that time there was genetic testing.  I found testing for all three of us, myself included at UHSL, Salt Lake City.  I had to be tested before my daughters were.  Because I have HHT, both daughters were tested.  The oldest with the nosebleeds did not have HHT.  To my great surprise, my youngest with migraines was diagnosed with the disorder.  Not only were her lungs full of AVMs, but she had one in her brain.  The migraines could have been attributed to HHT, if doctor’s were more aware of the disorder and our family history.  I, myself, did not know migraines could be a symptom.  It was a blow to my soul.  All these years of watching my siblings go through their trials and not knowing I have it myself…then finding that my daughter was now diagnosed.  Life seemed to turn upside down.  My young teenage daughter had AVMs in her lungs and one in her brain.  She was scheduled for brain surgery before we left the hospital and embolizations of AVMs in her lungs to follow shortly after.   The only thing that got us through it was the shock of the discovery and the urgency of her condition at the time….We were so impressed and thankful that the Neurosurgeon sat, knee to knee, with our daughter in his office and was honest with her about what needed to happen….  And she made the choice clearly, “GET IT OUT.”   There have been many lung AVM embolizations since and more physical and emotional trauma than I could ever imagine for someone so young.  When her friends were worried about the color of their lip gloss, she was learning about mortality.

The woman I know now, as my daughter, works to encourage and support others who struggle in ways that are part of the human and social conditions.  A very noble effort for someone who has been through so much herself.  Her journey with HHT continues to be a hindrance with AVMs in her lungs and now intestinal bleeding.  She’s had her first infusion.  And all I can do is be her mother and love her.  It’s a pretty helpless feeling as a parent.  I remember my parents aged 10 years after my brother’s “aneurism” (roughly in 1983) which was probably, in actuality, an AVM in his brain.  He is still living, in his 70’s, in independent care.  And what about me?  My nosebleeds have increased, but still mild by any comparison I’ve seen.  And I’ve had lung AVMs treated by embolization with no side effects.  There is no rhyme or reason for the degree to which one suffers from this disease.

If you are someone who knows someone who is dealing with HHT, please know that every STORY is unique.  With HHT there is no way of predicting the journey of how it will effect you or your loved one.  You manage this disorder by diligent medical testing and treatments. The rest is hope and a courageous heart.  Your support is appreciated with magnitude.  Sharing your story is powerful.