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The Disaster of Misdiagnosis

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I live in Norwood, Colorado with my husband Jon, daughter and our pets. We’ve lived in rural southwest Colorado for 14 years now. Jon works as a teacher at the Norwood Public School teaching art and shop, and I own and manage a small coffee shop in Telluride that is attached to a bookshop. I also do special commissions like Christmas ornaments and jewelry that is sold in a shop in Telluride. We have never been high or middle wage earners, but we have modestly gotten by on what we have. Both Jon and myself are quite practical, economical and manage our financial tightrope ok.

Our story really starts when I got sick in 2015 to the point that I was unable to work. I lost my appetite, lost weight, my abdomen began to swell and was truly uncomfortable in my own skin. After 7 weeks of investigations, I was finally diagnosed as having non-functioning gallbladder, which had to be removed. Although relieved that a solution was in sight, it meant that we then had all of the medical bills to deal with, and my loss in earnings. The total cost from these investigations and the surgery (due to sickness, surgery and recovery) was surprisingly covered under Medicaid. We were in the clear.

But four months later, unfortunately, I got sick again. This time, it was different. I was bleeding quite heavily constantly. A few more investigations later it was confirmed that I needed to have a full hysterectomy. And once again,I had to stop working, so the sooner the operation and recovery could happen,  the better.

But in this short span of time between surgeries, I’d lost medical insurance and could no longer be covered by Jon’s. And we didn’t qualify for Obamacare either. Without any insurance coverage, we were told that the operation would cost $20,000. A huge amount for anyone, but impossible for us to even consider given our current finances.  Luckily, Colorado has a sliding scale for people without insurance, and thanks to help from the doctor’s administrator, I was able to qualify for a discounted rate, which meant the surgery could go ahead. The total cost was $8,000. And a little over a year later is we are still paying this off.

But two weeks before my surgery was due to happen, Jon was out on one of his annual bike trips when he became unwell. He had chest pains, dizziness, difficulty breathing and shortness of breath.

He thought he was having a heart attack so he was immediately evacuated off of the mountain and taken to hospital.

After investigations, Jon was cleared of having a heart related issue, however, they felt that further testing under his GP would be useful to get to the bottom of what might have been going on. The GP diagnosed costochondritis, swelling of the cartilage around his ribs and sternum. Although thankfully not life threatening, Jon was told that his body would take months to heal. The next week, I then had my hysterectomy. And while I my health started to improve, over the next six months Jon’s did not.

Jon health started to go down hill, and he began suffering migraines, heart palpitations, tightness in his chest and fatigue. The next doctor we went to see thought that Jon must have just been coming down with a flu virus. But she was wrong. Less than a week later, he was rushed to the ER. Jon’s already troubling symptoms had worsened. After several tests, the ER doctor finally found what they thought could be going on with Jon and he was diagnosed with a rare blood cancer, Polycythaemia Vera.

This unusual type of cancer occurs when your bone marrow all of a sudden decides to make a lot of red blood cells, and just doesn’t stop overproduction. Meaning, in Jon’s case, that his red blood cell count was dangerously high, making his blood thick like molasses which inhibits it’s ability to pump through his body properly. This was the cause of his breathing issues, dizziness, chest pains and numbness in hands and feet. Jon was told he was at a high risk of having a stroke or heart attack. Left untreated, someone with the disease could have a life expectancy of less than one year. This was beyond the worst case scenario for us and a huge shock. Over the last few month’s Jon’s life had been in danger and we had no idea about any of it.

The doctor explained that we immediately needed to get Jon’s blood levels down, which meant having to have a phlebotomy asap. Performing a phlebotomy isn’t an easy process, as it’s the extraction of a mass amount of blood very quickly and can further tire you out. In that first week, Jon had four phlebotomies, a huge amount of blood loss for anyone. The ER doctor informed us that it was extremely important for Jon to now go to see a specialist hematologist/oncologist as soon as possible to formulate a plan for him going forward. We then learned it was likely Jon would have to undergo months of tests to come, meetings with specialists, and more phlebotomies. The situation made Jon extremely scared to be on his own in case he suddenly had another turn, a stroke or a heart attack. Mentally we were both extremely stressed and exhausted by this, as was our young daughter.

On a practical level, it also meant that in addition to running the café, and managing child care, I was also brought in to help teach Jon’s classes with him on days he was too drained to do it on his own. Something I’ve been doing ever since. And it’s exhausting for all of us.After his visit to the ER, we did meet with a local haematologist/oncologist about Jon’s condition. And, as suspected, he ran more tests on to confirm the severity and cause of Jon’s illness. The most important was, was the JAK2 gene mutation test.

This test is hugely important because this gene is the one which can cause the bone marrow to start over producing red blood cells. Luckily, Jon tested negative, and it proved he didn’t have this mutation. Further tests also showed that he didn’t have any cancerous tumours which could also be the cause of this disease. But that left us with more questions than answers. The specialist informed us that only one percent of Polycythaemia Vera (or PV) patients test negative for these two key causes (tumors or JAK2 gene), but the doctor was positive that Jon had PV and so was going to treat Jon accordingly. We questioned this. Given the low percentage of people who have this illness without either cause, we asked for further investigations to be done. The only one which could have completely confirmed the diagnosis of PV was a bone marrow test. Unfortunately, at this time, the doctor felt that was unnecessary given the rest of his symptoms. Trusting the specialist’s opinion, we went ahead with more phlebotomies as instructed. The doctor estimated 3 to 4 months before Jon would start to feel better, as long as he maintained his PV with phlebotomies.

But unfortunately, Jon’s health didn’t get better. In fact, a month after Jon’s original diagnosis (and six phlebotomies later), we decided to get a second opinion. As we live in a fairly remote area, this meant travelling seven hours away to the Colorado Blood Cancer Institute in Denver. The new specialist reviewed Jon’s case, concurring with the first specialist’s assessment and treatment plan. He felt there was no need to medicate Jon as such.We left him unsure really of what to do next. The treatment wasn’t seeming to make Jon any better, but both specialists had told us the plan would help him. We decided, ultimately, to stick with their advice and continue the plan, despite reservations. But as the months went on, Jon did not improve.He got worse. Concerned about what was going on, we continued to push the hematologist on the idea of confirming PV through a bone marrow biopsy. And every time he told us to just give us time.

By the fifth month after his diagnosis, Jon was drained completely of all energy and it was clear that the plan wasn’t working as the doctors had said it would. Jon and I began thinking about the altitude where we live, and if a change in elevation (since this seemed to have all began at 12,000 ft) would help Jon’s current condition. Jon contacted a local high elevation specialist to chat with him about his condition. He was unsure, but thought that going to sea level would be worth a try to see if he saw any improvement. So Jon took a leave from the first two weeks of school, I got my shifts covered, we pulled our daughter out of school too and we packed up and went to California for a week of camping to see if it helped. Unfortunately Jon showed little improvement.

Both before and during our trip, Jon had been trying to reach out to his local hematologist to discuss his case. But he never called back. Instead, the doctor’s assistant returned our calls, saying that everything sounded normal and that he was sure that Jon was fine (sight unseen). Confused and fustratied by the lack of support from this doctor, we also reached out to the hematologist that Jon had seen in Denver too. Having followed the treatment plan to date with deteriorating health, the doctor in Denver was also now worried. He decided it was time to do the bone marrow test after all.

Two days after his biopsy test, the results came back. Jon did not, in fact, have Polycythaemia Vera after all. Yet another misdiagnosis, the third for Jon in less than a year and the most harmful too. This meant that for the past 5 months, Jon was aggressively treated for a disease he did not have. And to top it off, the specialist informed us that he had no idea what to do next. Utterly shocking on every level.We went home, and decided we needed to find someone else who could help us, someone who was able to help continue doing tests and someone we could find a way to trust after what had happened. The local high altitude specialist that we had been consulting referred us to another haematologist/oncologist, Dr. Prchal at the Huntsman Cancer Center in Salt Lake City.

Although only six hours drive from our home base, it was out of state. Meaning Jon’s health care was not going to cover the doctor’s visit, treatments or tests. Still, we felt we had no choice but to try him. At this point, we were desperate.Luckily, we got an appointment for the beginning of September. This again meant pulling both myself and Jon out of work, and our daughter out of school, but it was hugely worth it. Within the first ten minutes of our session, Dr. Prchal he was asking questions and running tests that no other doctor had done at this point. It as clear that he understood that Jon’s symptoms were real, that we had been misdiagnosed and also, in his opinion, mistreated for the disease as well. When we revealed that Jon had fourteen phlebotomies, Dr. Prchal was visibly shocked.

People are no longer supposed to use bloodletting as a treatment for PV because of the damage it can do. Dr. Prchal had anticipated that those doctors who did still use phlebotomies did so sparingly, using a maximum of four in the same period that Jon was ordered to do fourteen. In his opinion, it was beyond irresponsible medical treatment. It was damaging. And so, we come to our current state of affairs.

More tests have been ordered by Dr. Prchal and his team. We know that (thanks to the ill-prescribed fourteen phlebotomies), Jon’s iron and ferritin levels are extremely low, beyond anaemic levels. This means that he is still dizzy, time disoriented, delayed thinking process, is sleepless, has shortness of breath,chest pains, migraines, and numbness in his hands and feet. All thanks to the miss-diagnosis of Polycythaemia Vera.

And because of this, Jon is not fit to work, or be left on his own for long periods or to even walk across a room unaided on bad days.

Dr. Prchal estimates it will take about three months of iron level medication to help Jon get back to being a functioning human again.

We had no choice in the end, but for Jon to take a leave of absence from work for this period of time. Luckily, Jon’s health care will stay intact, covering any in-state investigations and our daughter’s dyslexia exam.  Unfortunately, though, Jon will not be paid while on leave. He’s already used all of his sick days due to traveling for doctors visits, tests and investigations, and the school he works at doesn’t have coverage for his situation. Which means that our family is without his income or my normal income while he rests at home to recover. Until Jon is well enough to be left on his own, I can’t work full time-either. I have to be his carer along with everything else. A job I don’t mind doing, but leaves us in a really precarious financial condition.

All of our savings (which were very small to begin with) are gone due to the ongoing medical issues we both have had over such a short period of time. Right now, it leaves me with an immediate shortfall for upcoming bills. By the start of October,  we are tapped out. So far, we’ve spent nearly $16,000,  including costs for my health issues and Jon’s. And we still don’t have an official diagnosis for Jon. The road ahead will be a long one with further tests to come and further costs.

So that’s where we are. I’m scared, and stressed and I don’t know what else to do at this point. While we have put our cafe on the market to help pay for the bills, it still hasn’t sold. Even if it does sell, it will take months, something we can’t financially wait for. I’ve tried asking my parents, but unfortunately, they aren’t in a position to help financially. Jon’s father has dementia and is in a care home, so he is unable to help as well.

Any help you can give in any way would be an immense help to us. Thank you again.

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About the author

Mavis Bennett

Mavis Bennett

A western Colorado resident for most of her life, Mavis Bennett is the publisher of the Montrose Monitor. She has written for newspapers and magazines more than three decades and founded the popular Monitor Magazine in 2003. This web site is the logical progression for the Monitor.