My Great-Grandfather's Death Certificate Lead To My HHT Diagnosis

My great-grandfather, Benjiman Grimmett, struggled with bleeding problems all of his life. However, bleeding was not an abnormal occurrence to my great-grandfather. Benjiman’s mother also suffered from horrible nosebleeds, and bleeding was a normal thing in the Grimmett family. Even though my great-grandfather suffered from nosebleeds all of his life, as he became older his bleeding worsened. By the time he reached his seventies he began to require blood transfusions. His bleeding became worse and worse, and in 1974, at the age of 79, he passed away from the consequences of internal bleeding. My grandfather and father also inherited this bleeding condition and continued to live with the annoying daily nosebleeds.

The family picture (from left to right) is Katie's grandmother (Sue Grimmett), grandfather (Harold Grimmett), father (Allen Grimmett), and Katie Grimmett- a Junction City, Ark. resident shares her family's struggle with HHT.

In 1990, I was born, and the doctors soon discovered that something was terribly wrong. I was blind. After an examination, an ophthalmologist determined that I had been born without optic nerves and declared that I would never see. My parents did all they could for me and implored their family and friends to pray. After weeks of praying and waiting, one day my father came in to our living room and noticed that for the first time I looked up at him and followed him across the room with my eyes. My parents took me to the doctor, and the pediatric ophthalmologist fell down on his knees to thank God for doing what neither he nor any other physician could do. From that point on, I continued to grow into a healthy young girl, except for one thing: I began to get the family nosebleeds. I required cauterization of my nose from time to time and dealt with the bleeds as they came along. However, in December of 1999, I had an experience my family and I will never forget. During the night of December 8th, my parents heard me coughing, and my mother came to check on me. She found me lying in a pool of blood, and I was rushed to the emergency room. The ENT performed surgery and stopped the bleeding from my throat. After a couple of days in the hospital I was released to come home. However, exactly two weeks later, I had another attack which was worse than the first. This time I had lost so much blood that I had gone into shock. I was given a blood transfusion, and the doctor performed surgery on my throat once again. At this time, my family realized that the inherited bleeding condition was more than just an annoying nosebleed problem. Soon afterwards, my grandmother found my great-grandfather’s death certificate and discovered the name of this strange condition, Osler Weber Rendu Syndrome.

Osler Weber Rendu Syndrome, or Hereditary Hemorrhagic Telangiectasia as it is now commonly referred to, is an inherited bleeding disorder which affects approximately 1 in 5,000 people. HHT affects the nose, skin, lungs, brain, liver, spine, and other organs. Its main consequence is nosebleeds. However, HHT can also cause telangiectasias (small spots which burst open and bleed) on the skin or on the major organs. Spots on the organs are referred to as arteriovenous malformations and can cause serious damage, such as stroke or brain abscess, if left untreated. HHT affects men and women equally, and affected individuals have a 50% chance of passing the disorder to their children. With this knowledge, my family now had the power to fight this rare condition.

After my throat surgery, I had a CT scan to check for AVMs on my lungs. The test showed that I had two malformations, and I was sent to the nearest HHT treatment center at the time, which was in Salt Lake City, Utah. While in Utah, I had coils put on my lungs to fix the AVMs, and in 2011, I had the same procedure at the newly opened HHT Treatment Center in Dallas, Texas. I now have ten coils and a plug in both of my lungs. I require follow-ups every few years to check for new AVMs. In addition to the lung scans, I had a MRI of my brain in August of 2012. The MRI revealed that I have a small AVM. The test also showed something interesting. Part of my brain did not develop. The doctor at the HHT Center in Little Rock has concluded that the brain AVM caused me to have a stroke while in my mother’s womb, and, thereby, a portion of my brain did not develop. We now know why I was born without eyesight. This discovery has been the most recent part of my journey with HHT, and this disorder continues to have an impact on my family.

The greatest inspiration in my life has always been my grandfather, Harold Grimmett. He battled nosebleeds from a young age, and as he aged his bleeding became continually worse and at times he required blood transfusions. However, in spite of all of his bleeding, he had a zeal for life and a great love for his family. He always wanted to know how I was doing and how my bleeding was. My grandfather never focused on himself. Instead, he desired to help and be a friend to everyone around him. Unfortunately, we lost my grandfather in October of 2011 due to a stroke. The exact causes of the stroke will never be known, but one thing is sure, no one will ever take his place and HHT has caused too many tragedies in my own family and in countless other lives. For this reason, I am on a mission to spread the word about HHT and encourage people to give blood for those who suffer. Education is power, and it is my desire that through my efforts others will be saved from tragedies and will get diagnosed and treated before it is too late.