Man, I don’t know where to start, so I’ll just jump right in: HHT (Hereditary Hemorrhagic Telangiectasia) is a rare illness and I’m one of the people who has it. As a survivor, it is my duty to share my story —
Life is Complicated
I already had a complicated medical history—asthma, Crohn’s disease, depression—so HHT was like the cherry on top. I don’t know why I have all these diseases, but I know I’m also blessed. From being able to afford my medical care, to the knowledge I’ve gained, to the top of the line physicians that have treated me, the stars truly aligned for me. Thanks to all those who have helped me along this journey; you’ve made it possible for me to be here, alive and able to tell my story.
I first learned about HHT in February of 2019. But that was 6 months after I had a stroke, which I now know was caused by HHT, and could have been prevented had I been properly treated. Before the stroke, I was having frequent nosebleeds that would last two to five minutes. They would come multiple times during the day and left me exhausted. The worst was when I was working in Georgia in the summer of 2018, helping a customer, and my nose just poured out blood out of nowhere. I rushed to the restroom and had my supervisor take care of the customer. This was happening throughout the summer; some days were better than others, so I simply lived with it. I thought, “I don’t want to miss work to go to the doctor for some nosebleeds, I had these before, it could just be the Georgia heat.” You see, nosebleeds weren’t anything new to me. I had them on and off since I was sixteen. My mother also had frequent nosebleeds, and like me, she had many medical illnesses. She passed away due to congestive heart failure in the fall of 2012. She was never diagnosed with HHT, but she had many symptoms of the illness. If she had been tested for HHT, the information possibly could have changed her outcome—and mine.
HHT is an autosomal dominant genetic vascular disorder, meaning if your parent has HHT, you have a 50% chance of inheriting it. HHT causes blood vessel malformations in multiple organs, most commonly the nose, lungs, brain, GI tract and liver. It affects about 1.4 million men and women worldwide, including all races and ethnicities, but 90% of people with HHT go undiagnosed due to the unfamiliarity of the disease and the fact that symptoms sometimes are not present until two to five decades into an individual’s life. On average, the delay in diagnosis after first symptoms is 27 years! There is no cure for HHT, but it can be treated, and most of the serious complications of HHT can be prevented IF you are properly diagnosed.
Surprise Attack—A Stroke
One day during that summer of 2018, I started having a horrible headache with nausea and vomiting. Somehow, I drove myself to the hospital in the middle of the night, feeling extremely weak while driving. When I arrived at the hospital, my vision started getting blurry. I could barely see, but the big red emergency sign led the way. I understand why that sign is red now. I found a parking space close to the ER entrance and I limped through the automatic doors. I tried to tell the receptionist what was happening to me, but my speech came out like gibberish. She recognized immediately that I was having a stroke. A CT scan of my brain confirmed the stroke and also showed that I’d had some small strokes in the past, not even knowing it! Blood tests at the hospital also showed that I was severely anemic, and I had to have a blood transfusion.
A Detour into Depression
Fortunately, I recovered very quickly from my stroke, regaining my speech and walking abilities. But after all my health problems and lack of support from my family, my depression got worse; I thought seriously about ending my own life. Before I left the stroke unit, I asked to see a psychiatrist, and this led to a stay on the inpatient behavioral care unit, where I learned how to manage my depression and my family situation. It felt like a divine intervention being treated by a team of professionals who really cared about my mental health. Unfortunately, my nosebleeds continued, and I bled about a cupful or more every day I was there. By the time I was discharged, my doctors had set up several appointments with different specialists to see if they could help my nosebleeds and figure out why I had a stroke.
Getting Some Answers
Once discharged from the behavioral health unit, I continued my medical journey. I had four to five doctor appointments with multiple medical specialists over the next three weeks to address all my medical needs. I’m thankful the hospital staff wrote me an itinerary for all of my follow ups in my discharge summary.
There was one appointment that changed my future. That one was with my cardiologist. He wanted to test out the theory that a hole is in my heart was what caused the stroke. So, in early October 2018, I had a procedure to close the hole, and during the procedure he woke me up. I thought I was dreaming. He said, “LaMonne, so we sent a scope to your heart, and it appears there’s no hole in your heart, it appears that there’s a hole in your lung.” I replied, “Oh, okay, thank you, do what you got to do, you’re great.” Then I went back to sleep.
After the procedure, the cardiologist told me that there were abnormalities in my lungs and referred me to a Pulmonologist. She suspected that I had HHT, due to my nose bleeds and the results from my cardiologist. She ordered a genetic test for HHT. Meanwhile, she referred me to an Interventional Radiologist by the name of Dr. Sterling, to further evaluate my lungs. I saw him in January 2019. We discussed my health history and he immediately took X-rays and CT scans of my chest. He saw that I had AVMs in my right lung.
These lung AVMs, often seen in people with HHT, are abnormal blood vessels that are missing capillaries; without capillaries, the blood is not properly filtered and small blood clots or bits of bacteria that would normally be filtered out can get through the AVM and travel to the brain where they can cause a stroke or brain abscess. (Some people with HHT have AVMs in their brain and if a brain AVM bleeds, it causes a hemorrhagic stroke. An MRI of the brain is a standard screening for brain AVMs)
At that time, I was ignorant of HHT and was unsure about all the symptoms. When I told him my mother’s medical history, he started putting things together. With pulmonary AVMs, nosebleeds and a family history of nosebleeds in my mother, he was pretty sure I had HHT.
After he analyzed my lung images further, Dr. Sterling decided to perform an embolization procedure on my right lung.
Embolization is an outpatient procedure that can be done without general anesthesia. I was sedated but awake during the procedure. Dr. Sterling used X rays to guide a small catheter up from the femoral vein at the groin into the pulmonary arteries. Contrast radiography was used to locate the pulmonary AVMs and block off the blood flow to the AVMs with small fibered coils or plugs. Because the blood no longer circulates through the AVM, the “hole” or shunting of blood stops. No more clots or debris can flow through the AVM, which prevents you from having a stroke or brain abscess.
Treating My Anemia
That January, I also started seeing a fantastic Gastroenterologist by the name of Dr. Hurley, to treat my Crohn’s disease. I informed Dr. Hurley of my background and all the procedures I had done prior to seeing him. He recommended that I go to the Johns Hopkins HHT Center of Excellence because he knew they were most equipped to deal with my complicated medical situation. I agreed and that same day, he reached out to Gina Robinson, the nurse coordinator of the Center.
Dr. Hurley also referred me to a local Hematologist by the name of Dr. Huang. She checked my iron levels and saw that I was still very anemic. She recommended that I try iron infusions. I instantly recalled sitting with my mother when she had iron infusions; we used to sit together and eat pasta from Olive Garden and have amazing conversations while we waited for her treatment to finish. It’s funny how life comes full circle. My mother was always concerned about my nosebleeds as a teen; now at age 27, I see why. It didn’t take much thought for me to agree to do iron infusions. I have total trust in my physicians. We treat each other well. I am thankful.
Iron is essential to making the red blood cells that transport oxygen throughout the body. When you are bleeding regularly, the iron your body usually stores gets used up, and then you don’t have the iron to make more red blood cells. This results in iron deficiency anemia, which is a common problem for people with HHT. Symptoms of anemia may include weakness, fatigue, lightheadedness, and shortness of breath. If anemia goes untreated it can cause damage to the heart. The heart will have to pump more blood to the body to make up for the lack of oxygen, which can eventually cause heart failure and damage other organs. Many people with HHT suffer from anemia due to losing blood from nosebleeds and/or AVMs in their GI tract. There are a number of treatments for anemia, including iron, medications and procedures to reduce nose and GI bleeding.
Dr. Huang scheduled two appointments for my iron infusions. After the first one, I was instantly feeling better. The iron treatment improved my overall wellbeing. More iron meant more focus, and little to no fatigue. I was able to accomplish tasks at a faster pace than before.
In early February, I received a call back from nurse Gina Robinson about getting me set up for further evaluation and treatment at the HHT Center. She sent me an abundance of paperwork to fill out before my visit and told me exactly what to expect. Gina is so amazing and resourceful, and she made the process of getting care at Hopkins smooth.
February 12, 2019 is a day I will forever remember. I received a call from my pulmonologist with the results of my genetic testing. She confirmed I had HHT. The funny thing is, I had totally forgotten about the genetic testing since it had been so long. I shared this news with all my providers including Gina. Since my diagnosis of HHT was now definite, Gina immediately set up appointments to get me checked by the HHT team doctors at Hopkins.
In the meantime, I had more pain in my gut and I followed up with my Crohn’s disease doctor, who recommended I start Humira injections once a week to control my symptoms. Due to insurance, there was a delay in getting the medicine and I ended up having a miserable time, developing a rectal abscess and later a fistula, which was extremely painful and required surgery. After all that, I was able to finally get the Humira, and my Crohn’s disease has been much better since then.
Help for My Nosebleeds
In March, after recovering from my surgery, I went back to the HHT Center at Hopkins to see an Otolaryngologist (ENT) by the name of Dr. Rowan. Dr. Rowan examined my nose and read the notes from my last ENT doctor. He pitched the idea of taking me to surgery to treat the telangiectasias (another name for AVM’s) in my nose with a laser, as well as to further investigate what was going on inside my nose. But he stressed that he would prefer not to do surgery on my nose because I had a pin-size hole in the septum of my nose, and surgery could make it worse. He prescribed Rose Geranium oil nasal drops to help with my nosebleeds and told me to come see him again in a month.
By April, I had been using the nasal oil every day, taking my Humira injections, and getting IV iron infusions. I did my best to stay active. I enjoy going to the gym to lift weights. The gym is the best therapist for me. It keeps me fit and helps me solve problems. While I work out, I think of everything that I need to do and ways to do it. I come up with my best art and ideas while in the gym.
One morning when I was leaving the house to get my oil changed, I had another one-hour nosebleed. It was so exhausting. The bleeding started in the shower and continued while I was getting dressed and driving to the shop to get my oil changed. While I was waiting for my vehicle to finish up, I called Dr. Rowan about my nosebleed. He said I should come into his office as soon as I could because he had a feeling it might be necessary to move forward with surgery after all.
I saw Dr. Rowan the following week and he examined my nose. He told me the overview of the surgery he planned to do, which included laser treatment of my telangiectasias and injecting Avastin into some of the blood vessels in my nose.
Avastin or Bevacizumab, is a drug used primarily to treat cancer patients, but research has shown that Avastin reduces bleeding in HHT patients. Avastin works by inhibiting blood vessel formation. It can be injected directly into the nose or given by IV, to help reduce both nose and GI bleeding.
Dr. Rowan scheduled my procedure for June. A friend from church took me to the surgery, which was not too painful. Dr. Rowan did a fantastic job. But it took about a month to fully receive the benefits from the nose procedure, and for a while my nosebleeds were still bad.
Depression Strikes Again
But I was still having family problems, and I was exhausted from all the medical problems I’d had over the past months. I started to feel depressed again, really miserable. In despair, I started planning to take my life again.
When I saw Dr. Rowan for my after-surgery follow up, the news about my nose was good—he successfully got rid of the majority of telangiectasias that were causing bleeding in my nose and the Avastin seemed to be preventing new telangiectasia growth. But Dr. Rowan couldn’t get past the depressed look on my face. He knew something was wrong as soon as I walked in. He told me he was bummed out that I wasn’t feeling well and that he always looks forward to seeing me because he loves how I ask a lot of questions and tell jokes with him. That was nice to hear, but after the appointment I was still an emotional wreck. I went to the restroom and cried.
In the car, while driving home, I called Gina Robinson. I was completely honest with her about my suicidal thoughts. Since I was already in Virginia by that time, she told me to go to INOVA hospital and that she would call to tell them to be expecting me. I checked into the hospital and ended up being admitted to an inpatient psychiatric hospital nearby. After many tries of different medications, with the support of the staff and my friends, and with faith in God, my depression lifted. I was grateful to be alive, and to have kind and wonderful doctors to take care of all my illnesses.
Return of the Nosebleeds
Unfortunately, my nosebleeds returned with a vengeance, about 8 months after my treatment with Dr. Rowan. On a Thursday evening in mid-February 2020, I was out at night driving through Arlington, VA, and I stopped at McDonald’s to get some food. I had a thirty-minute nosebleed at McDonalds. After my nosebleed stopped, I ate and drove home. In the car, I started crying because I was so frustrated about being so sick and tired all the time. When I cried, I started bleeding from my nose again, and coughing up blood that had gone down my throat. Construction was being done on the highway where a lane was blocked off and people were merging. I was unable to make the merge and pulled into the construction lane. I opened my door and vomited blood mixed with McDonalds. An officer came to my vehicle immediately and said, “Sir, are you okay!? Did you get shot!?” My speech was garbled from crying and bleeding and I stammered out, “I have, I have, Hereditary Hemorrhagic Telangiectasia.” He said, “WHAT IS THAT!?” So I pulled out my iPhone and showed him my Medical ID, which explains all about HHT. I went to the hospital, but there wasn’t much they could do for me, and the bleeding finally stopped.
It’s been a long road, and my health still isn’t perfect, but it is manageable. It’s challenging for me to work because I get tired easily. But I continue to receive IV iron infusions twice a month, and I plan to start IV Avastin soon, which should help my nosebleeds.
Being ill revealed much about life to me. Lenses worn by a few and far between. Mental strength that only arises from situations that are unique. I am thankful I persevered. I go to therapy, take my medications, and get the medical care I need to manage all my illnesses—depression, Crohn’s disease and HHT, the cherry on top. We each have a cross to bear, and I’m bearing mine so well now, you could add another one. That’s how strong I am now. I am truly blessed and thankful to be alive.
This story was edited by Sara Palmer. For more information, please visit www.curehht.org