How an unusual chain of events changed my life
It was one of those glorious, sun shiny, blue-sky days that make the mountains picture perfect. My husband, Craig, and I flew to Park City, Utah for the opening weekend at Deer Valley. We hit the slopes early and breezed through the lift lines. The slopes were pristine and vacant, one of the perks of skiing several weekends prior to the holiday rush. Little did I know that soon my life was about to change and I would discover I have a little known and often-undiagnosed condition known as Hereditary Hemorraghic Telangectasia (HHT).
After a few runs, we felt like we were getting our ski legs back. Halfway down “Reward” (a ski run whose name’s irony became evident later), I realized I bit off more than I could chew and needed to regroup. I seemed unusually short of breath and hot, but thought the combination of altitude and menopause might be taking its toll. I panned the mountain vista. It looked like an HDTV gone berserk. Pixels were jumbled and blacked out. I slowly skied down to Craig who was patiently waiting a short distance below. As I looked at his face about a quarter of it was missing. Imagine his face as a face of a clock. Everything from 9 to 12 o’clock was gone.
“Are you okay?” he asked.
“Not really. You’re missing a part of your head,” I replied.
I could tell that he was not quite sure if I was joking or not so I further described my physical symptoms. I could read concern in his eye – the one I was able to see. I definitely wanted to get off the mountain. Waiting for the ski patrol or being left on a somewhat deserted slope on my own while Craig sought help, didn’t seem like good options. We skied very slowly down to the lodge. I was glad I wasn’t being judged on form or speed as I picked my way down the slope taking long, wide, awkward, even slapstick turns.
Certain that this was a case of severe altitude sickness, I was surprised when, after a chug of Gatorade and a brief rest, there wasn’t any improvement. We packed up our skis and headed back to the townhouse. As we passed the Park City Urgent Care Center along the route home, Craig pulled into the parking lot and said, “Let’s just be sure.”
We were fortunate to find the waiting room empty. Since it was still early in the day, not many ski injuries had logged in. I wobbled into an examining room and described my symptoms to the nurse practitioner. As she took my blood pressure, I glimpsed at what she wrote on my chart.
“I don’t know whose blood pressure you just took, but it isn’t mine,” I said.
“Yes, it is high, 160/112,” she replied.
The doctor came in and continued with the examination. She was thorough, compassionate and honest. She sat down in front of me and eye-to-eye delivered the news.
“Look,” she said. “I know you came in here under your own power, your conscious and you don’t feel horribly sick. But I think you might have something more serious going on here than altitude sickness. It could be an aneurysm or a stroke. In either of these cases, early intervention is essential. I would like to order an ambulance and get you down to Salt Lake. I don’t think it’s a good idea to drive on your own. If you go in with the paramedics you won’t sit in a waiting room and waste precious time.”
Without a second thought, Craig said, “Order it.” My head was spinning, not from my malady, but from the doctor’s analysis of the situation. With several hospitals to choose from, we decided on University of Utah Medical Center by coin toss, a decision that certainly was divinely guided.
Within the few minutes it took the paramedics to arrive, my blood pressure seemed to increase by a thousand fold. My legs buckled as I struggled to get onto the gurney and I tried desperately to stay conscious. The paramedics lifted me on the gurney and started an IV. My blood squirted out like Buckingham fountain. I touched Craig’s hand goodbye as they closed the door, both of us trying to reassure each other that everything would be alright. The ambulance was a flurry of activity. The med techs administered oxygen, IVs, and kept me talking to keep me awake. Sirens blaring, the ambulance worked its way through Parleys Canyon. The driver shouted out “Left, right”, so the paramedics could brace themselves for every roadway curve. The journey could only be compared to “Mr. Toad’s Wild Ride” at Disney World.
The doctor was right. Once we arrived at the Medical Center, there was no waiting, it was go to the head of the class, pass go and collect two hundred dollars. The emergency room team poked, prodded, tapped and asked. Neurologists were called in for their expertise. I was X-rayed, scanned and finally had an MRI. As I was wheeled out of the radiology room, the resident neurologist met me. This was her opportunity to practice her bedside manner because I could tell by the look on her face this was less than welcome news. She gave me the results gently.
“Mrs. Colmar, you’ve had a stroke, caused by a blot clot that traveled to your brain.”
Stroke? Can’t be, no way! I tried to stay emotionally detached from the news to concentrate on what she was saying. Occipital lobe, visual slice, blot clot, words swirling through my now compromised brain. A lone tear eked out as I pondered the future. I was admitted to the hospital immediately and they quickly began to administer medical treatment (clot busters) to mitigate the damage to the brain.
Rest through the night was sporadic since frequent medical checks were necessary. Craig rested in the recliner next to the bed. When the new day dawned, I was hoping to open my eyes and be fully recovered. No such luck. The big black spot was still present. I spent every minute trying to shift my vision to catch up to the blob, to no avail.
It was early in the morning and the resident teams began their rounds. I felt like a story line in “Grey’s Anatomy”. White, female 54, no history of high blood pressure or diabetes, non-smoker, athletic and slim (125 pounds, but if you ask me, I’ll still tell you my butt looks big). The only recent change in medication was the addition of hormone replacement therapy (HRT) for menopausal symptoms. Could this be the reason for the stroke? I wanted to kick myself for trying to combat night sweats and hot flashes by taking HRT. The team and the resident weren’t convinced HRT was the only reason. More tests would be ordered.
Shortly after they left, part of my usual morning routine occurred; a nosebleed. When I say usual, I’m not kidding. My nosebleeds were sometimes daily, always weekly and so regular they seemed normal. My bedside tray table was stacked up with bloodied Kleenex just in time for the arrival of the attending neurologist. He studied my chart and we revisited the circumstance of my admission. Then he glanced at the stack of tissues.
“Do you get nosebleeds often?” he asked.
“Once a week at least,” I responded.
“How long has that been going on?” he continued.
“As far back as I can remember,” I admitted, with the creeping realization that frequent nosebleeds perhaps aren’t that normal after all.
He pulled out his otoscope and other gadgets and checked out my nose, the interior of my mouth, my eye rims and then curiously examined my hands.
“Do you see this tiny red spot?” he asked.
This probably wasn’t the best time to ask that question. I’m not even sure that without my compromised vision and 250 strength-reading glasses, I would have been able to see the spot. With a hand held mirror, he showed me a larger spot on my lip. When he pressed it with his finger it disappeared and then almost instantly reappeared.
“Have you ever heard of or does anyone in your family have Osler-Weber-Rendu, also known as HHT?” he asked.
I mentally flipped through the pages of family medical history. If nothing else I would have remembered that I had forgotten some condition with a weird name.
“It doesn’t ring a bell,” I answered.
“Well, given that you are in otherwise good health, we’ve been trying to pinpoint the cause of your stroke. I am going to send up a genetic counselor and our interventional radiologist to review your case. I am also going to order additional scans to determine if there is unfiltered blood passing through your system.”
The spontaneous decision back at the Park city Urgent Care Center to go to the University of Utah Medical Center was the best decision I ever made (next to marrying Craig). As luck, karma, fate, or faith would have it; I landed in one of eight research/treatment centers for HHT in the United States. (Chicago, our home, is not an HHT center.) There was a good chance that this condition, completely unknown to me, was responsible for my stroke. The exceptional observation of the neurologist probably prevented me (and possibly my offspring) from subsequent strokes.
Later that afternoon after my scans, I was visited by a genetic counselor, Jamie MacDonald. She did a thorough inquiry of my medical history and my family medical history. The big red flag indicating the possibility of HHT was my chronic nosebleeds. Then she walked me through the intricacies of the condition. Being one in a million didn’t seem that special anymore (there are approximately 1.2 million people diagnosed with HHT). Jamie also gave me the results of my screening and scans, which indicated that I had a pulmonary arteriovenous malformation (PAVM). In layman’s terms a PAVM is an artery-vein connection in the lung that lacks the capillary filters that cleanse the blood of debris as it passes through the body’s blood system. In my case, a clot was not filtered in my lungs, passed through my blood, and landed in my brain. The protocol for repair would require a pulmonary embolization to decommission the PAVM. My concern though was not for the impending procedure but for the first word of my condition; Hereditary. Of all the things I wanted to pass on to my children, this was not one of them. Jamie assured me that we would tackle every avenue of the condition one step at a time.
The following day, Craig and I met with two interventional radiologists, Dr. James Carlisle and Dr. Allene Burdette, who explained the embolization procedure. They would insert a small tube (catheter) into a large vein in the groin. The tube would pass through the blood vessel to the AVM in the left lung. A coil would be placed in the artery leading to the AVM to stop the blood flow, decommissioning the AVM. The procedure would take 1-3 hours followed by 72 hours of restricted activity. After meeting with Jamie and the doctors, I knew I was in excellent hands. The embolization took place once I had been stabilized from the stroke. A week after having my stroke, a 4cm PAVM was embolized and another was put “on watch” with a follow-up scan scheduled in a year’s time.
Three weeks after my stroke and embolization, we took an unusual family vacation. While we frequently visited Park City for skiing, this trip would also incorporate a screening for HHT. Naturally my children were concerned for me and my recent medical adventure but all of us agonized over the uncertainty of their conditions until the day of the screening. We were praying that if they had the condition at all, they would not be the 15% who have AVMs in the brain. Out of respect for their privacy (and HIPPA laws) I won’t reveal which of the children have been diagnosed with HHT. I will say that the lung-based condition was detected (thankfully no brain AVMs) and can now be monitored to prevent the unexpected. This is extremely important not only for my children but for monitoring their offspring during infancy as well.
It has been difficult to come to terms with the events of that day in December. What could have been a debilitating stroke turned into a life saving diagnosis. My vision has improved with time, and the only remaining evidence of my stroke is a very narrow visual cut in the upper left corner of my field of vision. My second PAVM has since been repaired and now my condition will be monitored on a five-year schedule.
Most HHT patients are not as lucky. Because nosebleeds are often treated and not “diagnosed”, HHT patients can experience gastrointestinal hemorrhage, suffer incapacitating stroke and even death. My neurologist in Chicago, after reviewing my case, said HHT is very under-diagnosed and might well have been missed if I had my stroke here. Talk about right time, right place!
I was given a gift that others with my condition don’t often receive. There is no way to repay, Craig, Park City Urgent Care doctors/EMTs, the medical teams and staff at University of Utah Medical Center, family and friends whose expertise, care and compassion guided me on the road to recovery. My fortunate outcome of an unfortunate circumstance is unexplainable. I’ll never know why on earth things happened the way they did that day, a remarkable chain of events illogically leading to my diagnosis. My gratitude for renewed health is the reason for this story and the hope that it will raise awareness of HHT in both the general population and the medical community. Don’t ignore the big red flag (nosebleeds) that I left unchecked most of my life. Early intervention of HHT can transform a potentially life-threatening condition into a manageable life-lesson.