This is my wife, Renee’s story.
Renee started her battle with HHT, unknowingly, as a young child. After researching her history, with family members, it was determined that she started with nose bleeds at a very young age. She went through the normal cauterizations, and attempted treatments by local ENT’s. The treatments slowed the nose bleeds somewhat, but never lasted.
We met in 2003 and married several months later. In 2006 she developed severe gastric reflux. She was treated by a local gastroenterologist with prescription acid reducers. This helped but didn’t eliminate the problem. After several months, she started feeling full after only eating a few bites of food. Knowing something more had to be at work, we consulted the gastro doctor again. He then ordered an endoscopy. The endoscopy revealed a large mass inside her stomach. They called in a surgeon and proceeded to take her straight to surgery. An attempt was made to salvage part of her stomach, but was unsuccessful. This would start a chain of events that were life-changing for her and our family.
More recently, in 2015, Renee started developing massive, migraine-type headaches. A neurologist ordered a head CT and showed mild encephalopathy, which confused us. Bloodwork revealed high ammonia levels, which we learned, contributed to the encephalopathy. Referred to a hepatologist, we learned after an abdominal CT, that she had lesions in her liver. We were puzzled again as to what this was unfolding. A year later, while battling a very high ammonia level and excruciating migraine in the ER of a local hospital, she was admitted and developed aspirated pneumonia, a couple of days later. A chest CT revealed pulmonary AVM’s in both lungs. Her physician in charge of her case, started putting the pieces together, chronic nosebleeds, possible juvenile polyposis (stomach and colonic polyps), liver and pulmonary AVM’s. He clinically diagnosed HHT. After getting her out of the hospital, research led me to the Cure HHT Foundation. They recommended going to Augusta University Medical Center, a Treatment Center of Excellence, and to see Dr. Gossage. After going and going through a number of initial tests, we were referred to both, an ENT, and an Interventional Radiologist that Dr. Gossage had on his HHT team. After genetic testing, it was revealed that Renee, did indeed have HHT, with the SMAD 4 gene being the culprit.
Two lung embolization’s were performed on separate trips to Augusta, as well as a laser cauterization for the nosebleeds. Both procedures improved her quality of life immensely. Her pulse-ox levels improved, as well as a complete stoppage of her nosebleeds. Life was good.
Since 2016 she has being monitored for the ammonia levels, biweekly. Her results have fluctuated from normal ranges to extremely high. She is taking prescribed Xifaxim, and Lactulose. We more recently reached out to the HHT team in Dallas at Southwestern University, led by Dr. Battaille. We were referred to their interventional radiology team and a procedure was attempted to embolize the liver AVM’s. Unfortunately, due to her complex liver AVM’s, this turned out to be not successful. We consulted with their Hepatologist and he explained that her liver AVM’s were numerous and smaller than expected. We will have to monitor this problem closely.
Unfortunately, we learned, after genetic testing, that our son, Aaron, carries the same genetic mutation. A year and a half ago at the age of 16, we traveled to Cincinnati Children’s Hospital and learned Aaron was dealing with massive polyps in his colon, and would have surgery to remove it. Luckily, the surgical team, led by Dr. Frischer, and Gastro Dr. Palermo, Aaron made a full recovery. It took two surgeries but he is without a colostomy bag. He also is dealing with stomach polyps, as Renee, and eventually will lead to a major surgery. Nosebleeds are also a complication of HHT that he suffers with.
We would like to sincerely thank the Cure HHT Foundation, for without their guidance and references, we wouldn’t have the knowledge or direction we have now. This is a life changing disease that unfortunately took three other family members from Renee, one being her brother in his 40’s. I urge anyone with similar issues, as mentioned in Renee’s story, to please be tested. Your future and the futures of your family depends on it.