I am So Lucky!!!

A silver lining is a funny thing. You wish you could see it while you are mucking your way through a crisis, but you can’t, and it often doesn’t show up for a long time, if at all. My silver lining appeared in the most unexpected of ways.

This HHT story seems like it should start with a list of really weird symptoms, a lifetime of strange unannounced nosebleeds or the funny red dots all over my lips which look like reverse freckles – but it starts somewhere entirely different.

At forty-six, the truly unimaginable became reality. I was diagnosed with Stage II Invasive Ductal Carcinoma, or simply known as breast cancer. Like any cancer diagnosis, this was terrifying news, but compared to other cancers, the survivability rate today if diagnosed early is excellent. I benefited greatly from the others who brought breast cancer into the forefront. I had the standard surgery, followed by chemotherapy, radiation and now I am on medication for five years – I am going to be ok. This was a very difficult time, but survivable, which is not the case for so many people. I lost my hair and my overall sense of security. I never believed that something terrible was going to happen to me and I wondered, what is the silver lining in this? What life lessons do I take from this? Is this the part of my story where I write off this experience to dumb luck, or am I thankful that I do not have a terminal cancer? Even a couple of years later, wading my way through survivor’s guilt, I still could not answer these questions.

After being cancer free for two years, I wasn’t feeling so great. My energy was low; I had a hard time doing things that normally came pretty easy to me: hiking, biking or walking up the big hill by my house. I just felt bad… was the cancer back? Could it be the twenty pounds I put on courtesy of cancer pharmacology? Obvious to my doctors, or so they thought, it was probably the far-reaching side effects from chemotherapy and radiation. What a bummer!

Here we go again! To be on the safe side, more tests were ordered! Let’s do a bone scan… Nope – it all looks good! Let’s check your blood for cancer markers…. Nope – it all looks good! Let’s send you to a cardiologist, it could be the chemotherapy you had…. Nope – heart is in terrific condition! Let’s send you to a pulmonologist, it could be damage to your right lung from radiation…. Hmmm…. yes, there is a little damage to your right lung, but more significantly, you have an AVM (arteriovenous malformation) in your left lung, and you need to get that treated immediately. This AVM made me a prime candidate for a stroke or brain abscess. My pulmonologist wanted to treat me at the local hospital to avoid a catastrophic event as soon as possible! This AVM would surely account for the oxygen-deprived blood leaving my lungs and sapping my body of energy.

HOLD ON was all I could think while on the phone with my doctor!

What on earth was going on here? None of this sounded right to me. What is an AVM and why is it in my lung? On the phone with the pulmonologist, I did what every person would do in this situation, consult my close friend Google. Google’s search revealed that AVMs are a tangled web of arteries and veins that are not properly connected with capillaries. This made no sense to me, I was baffled! It took a few more clicks Googling AVMs before I found a connection to HHT. The list of symptoms associated with AVMs and HHT looked familiar to me. A family history of nosebleeds, my own nosebleeds, skin telangiectasias (a word I will never be able to pronounce, but essentially tiny AVMs presenting as small red or purple dots). Yikes, it seemed I had every symptom. There it was – HHT, Hereditary Hemorrhagic Telangiectasia… now there is a mouthful! Most doctors know this from a test question in medical school as Osler-Weber-Rendu Syndrome. I started rattling off the information I was reading to the pulmonologist, and he started asking me questions. Do you have nosebleeds? Do you have telangiectasias? Do you have a family history of nosebleeds or unexplained deaths? Yes, to everything! The most important thing he said was “I can’t believe I missed this, but I’ve never had a patient with a lung AVM”. Turns out these lung AVMs (or PAVMs, for the pulmonary part) are very rare – less than one percent in the general population, however, they are a common occurrence in people with HHT.

Lucky Silver Lining #1 – The additional tests my doctors ran because they suspected a cancer related condition led to a new and rare diagnosis of HHT. Without this, I am just a middle age woman who needs to get in better shape! How many people can say that cancer saved their lives?

After being referred to UCLA’s HHT Center, I began my never-ending trek along the infamous traffic-clogged 405 freeway. I met amazing doctors who had not only heard of HHT, they were experts in the various ways it could impact one’s health. They were reassuring and knowledgeable. I would need some coils placed in my lungs to prevent a catastrophic event, and a MRI to rule out brain AVMs – no big deal. I was not worried about that, it seemed impossible that anything was amiss with my brain. At this point, I was aggravated by the dozens of physicians I had seen in my life that completely missed those pesky red freckles and coincidental nosebleeds – not so coincidental after all!

After a brain scan and a meeting with the HHT Director to schedule my lung procedure, my doctor informed me that the Co-Director of the UCLA HHT program would call me from his vacation to go over my brain scan. Don’t ask me why this didn’t freak me out, but at the time, I thought “Oh, how nice! Doctors that work on vacation.” That was a phone call I will never forget. With breast cancer, I was given a pink ticket and instructions to come back and bring someone with me. I found out the pink ticket was a special pass out of the waiting room to a cozy office where you were going to get some bad news.

This phone call from my vacationing doctor did not come with a pink ticket, or requirement that I “bring someone with me”. I was at work in a sterile conference room, with my future husband conferenced in from his job. The phone call started with pleasantries, followed by, “Well, we will have to talk about your four brain AVMs at some point, but right now I want to talk about your brain aneurysm.” “Excuse me, my what?” I almost couldn’t hear him. I had to stop him and ask what the hell we were talking about. I have brain AVMs AND an un-ruptured brain aneurysm? It did not seem possible because – my head felt fine! The good news was there was no evidence of hemorrhage (bleeding from all this unnecessary and unwanted junk in my brain). Still, I felt like the train was coming off the tracks and my life was crashing in.

Lucky Silver Lining #2 – I have a brain aneurysm, but it had not ruptured. I have lung AVMs and brain AVMs, but they were treatable. I like to say I had lung and brain surgeries, but they are only procedures. After the doctor placed coils in the lung AVM through a catheter from a vein in my groin, a month later they put me to sleep and navigated the arteries from my groin to brain, to drop off a little pipeline stent across the brain aneurysm. The lung procedure was a piece of cake, but the brain procedure was more challenging. It took me some time to recover from this, but honestly, I wasn’t afraid of the brain AVMs or my children’s fate quite yet! One day at a time was the best I could do. I just couldn’t think about anything else. I have not mentioned this yet, but HHT is inherited. You do not catch it, you are born with it.

Fast forward six months: I knew I had HHT type 1, located on chromosome nine (a great name for a band, “Chromosome Nine”). The gene mutation can be benign. For example, my 91-year-old father suffers from mild daily nosebleeds, and that is the extent of it for him. Looking back on my family history, I have reason to believe that I have lost more than one family member to HHT; however, I cannot be sure, as HHT was not diagnosed in my family at the time. I had three pregnancies where I had a bloody nose every single day of each pregnancy. I complained frequently to my OB/GYN about the nosebleeds, and in hindsight wish he had the knowledge to diagnose me then. Pregnancy can be dangerous for someone with HHT and lung AVMs. If you have a bloody nose everyday for 26 months (total pregnancy time), something could be wrong. It is staggering to me the number of doctors I have seen in twenty-five years that missed the clear markers of HHT. I want to go back to every doctor I have ever seen and tell them to ask more questions; it is lifesaving!

HHT is an autosomal dominant genetic disorder, which means there is a 50/50 chance of passing it on with each pregnancy. Based on my new knowledge of symptoms, I believed only my youngest would be affected. Once again came unexpected news – all three of the boys have HHT…as it turns out; my genes are as bossy as I am. The math was easy to figure out, 50/50 with each pregnancy; however, I still could hardly process this. My youngest at sixteen was a given – he has frequent bloody noses – but my middle son at 19 only had a couple of nosebleeds in his lifetime, and my oldest at 21 has never had a bloody nose and is a cross country athlete. On closer inspection from the professionals with a penlight, all three had tiny telangiectasias in their mouths.

Lucky Silver Lining #3 – My children know! They are less likely to have a catastrophic event from HHT, because they know. They will have their lungs scanned every two to five years for  PAVMs, which are present but very small in all three – they may grow over time and can be treated if they grow. All three are negative for brain AVMs. My boys will be able to screen my future grandchildren for treatment or choose genetic screening. No one else in my family needs to meet an untimely end due to HHT, because now we know!

Back to those four pesky brain AVMs. Two of them are “micro” and do not need treatment. The other two are a little more problematic. According to my doctor, if I live long enough, without treatment there is an 84% likelihood that one of the two AVMs in my brain will hemorrhage. I do not understand this probability math, although my doctor tried to explain it to me. One AVM is operable, but the other is not. In July, the doctors delivered a blast of radiation (radiosurgery) directly to those two AVMs. I was hesitant to do it, but I couldn’t ignore the advice of my doctor, whom I trust, and the evidence of success his team presented. Additionally, I have taken to presenting this question to all my doctors, which I suspect they usually don’t like, and don’t want to answer: what treatment would you recommend if the patient in this case were your wife, sister, mother? The answer was unequivocal, and unanimous: treat. Over the course of three years, in a best-case scenario, the radiation blast will cause the CAVMs (“C” for cerebral vs “P” for pulmonary) to shrink down, giving me the rest of my life without having to worry about a brain hemorrhage. Until then I wait, which is something I have never been good about – so I practice patience. There is data that HHT brain AVMs are less likely to hemorrhage, so that gives me some peace.

Lucky Silver Lining #4 – I am really fired up! This entire experience got me thinking – how can I get involved, how can I make a difference? I survived breast cancer thanks to treatments developed as a result of heightened awareness and activism, and the funding and research that accompany awareness. This awareness does not exist on that scale for HHT because of its rarity.

One in 5,000 people in the general population has HHT and ninety percent affected are undiagnosed. This fact alone motivates me to be a voice and bring awareness to HHT so the undiagnosed can get treated.

Obviously, curing and treating HHT is a worthwhile pursuit. More immediately, we can diagnose that ninety percent who don’t know they have HHT, before they suffer life-threating complications, or unknowingly pass it on. My father did not know his lifetime of bloody noses could be deadly for his children and grandchildren. What about the rest of the families out there like us that have no idea?

Lucky Silver Lining #5 – I am so lucky I am alive! Having the benefit of being treated, my goal is to help others. To the extent I can be a voice and or provide guidance. It all makes sense now and I am excited and hopeful!

The best way to get people diagnosed is to have educated doctors. The most noteworthy doctors to miss the HHT diagnosis are dermatologists, OB/GYN’s, ENTs, dentists and general practitioners. Nevertheless, it is equally important to have educated patients. If you have telangiectasias, ask among your family about anyone else with bloody noses. If you have a reoccurring bloody nose, look for the telangiectasias on the lips, in the mouth and on the fingertips. If these exist, ask about family history. Why does something so simple seem herculean? I don’t have the answers yet, but I know there is a large HHT community to which I already belong, and many others can and will benefit from our combined efforts to raise awareness.

MaryAnn Donnelly
Redondo Beach, California

Supervising Physician
Justin McWilliams, MD
UCLA HHT Co-Director