Why we Traveled 1044 Miles in Search of an Allusive Diagnosis!

May 11, 2019 was a beautiful Saturday morning. A great day for a road trip. It was the start of our marathon journey driving from Upstate New York to Rochester, Minnesota. 1044 miles not counting detours or pit stops. We had a cooler full of drinks and snacks in the backseat of our car, (courtesy of my mom), a full tank of gas, and expectations that ran from optimistically high to “WTF are we doing” low.

My husband, the reason for this trip, was having one of his “good days”, so he slid into the driver’s seat. He was going to take the first shift of our 17 hour drive. In another life, BJ was a professional truck driver, and he was used to driving long hauls. But that was before the tremors, and the muscle weakness and the debilitating fatigue. I don’t know if he felt he had something to prove, or if he just really hates my driving, but he stayed behind the wheel the entire trip. Since all of my offers to share the driving were met with a dismissive “I’m good”, I eventually gave up asking. I made myself comfortable in the passage seat, and began ticking off the States as we made our way West.

Our drive may have started that May, but the story really begins much earlier. So far back in time that I can’t even remember the exact year. What I do remember is taking a day trip with BJ and my folks in early winter to an outlet mall for some Christmas shopping. Our now 13 year old son Micah was just a toddler then. BJ was struggling to keep up with us as we wandered from store to store. He eventually slipped his arm around my shoulders and casually leaned into me for support. That was the first time he told me his feet and legs felt numb and he was having a hard time walking.

But maybe the story goes back even further then that. Maybe this story started a few months after our honeymoon, over 15 years ago. That was when BJ ended up in the ER of our local hospital complaining of electric shock currents of pain running up and down the length of his body. A CAT scan revealed a mass in his neck and a somber physician’s assistant told us it was likely cancer. The next few hours were a blur. While BJ was being injected with Fentanyl for the pain, a volunteer, who was also a cancer survivor, came over to give us a pep talk. A biopsy was scheduled and we were sent on our way with a prescription for Oxycodone, and a million questions going through our heads.

But when the biopsy showed an infection of the lymph nodes, and NOT cancer, we considered ourselves lucky, and closed the door on that chapter. A course of antibiotics and a few weeks rest and things were back to normal. But were they? Was that cancer scare really a sign of what was to come?

After the incident at the outlet mall, BJ began to experience other symptoms. He tried to explain each one away. The increased numbness and tingling in his feet and legs? A result of a bulging disc in his back. The insomnia? That was caused by working third shift. The excruciating headaches were from dehydration and then attributed to a stressful job. When then tremors began in his hands I said enough is enough and we went for a checkup with BJ’s primary care provider who ordered BJ’s first MRI and referred us to a local neurologist.

The results of the MRI were not good. We were told that BJ had two lesions on the frontal lobe of his brain that could be causing his symptoms. We were also told that he could simply have been born with those lesions and they may not have anything to do with what BJ was now experiencing. We were instructed to repeat the MRI in three months to see if there was any changes to the images.

BJ was convinced that he was born with those lesions, so we were both devastated when someone from the neurology office called to tell him his follow-up MRI showed his lesions had increased in size. We were told it was most likely a tumor. For the second time in our marriage, we were faced with the very likely possibility that BJ had cancer. As we waited for the neurologist to call us with our next step, we drove down to the river by our house and talked about our future. Our son was now 10 years old, and the prospect of him growing up without his dad seemed all too real.

But once again, the universe was playing tricks on us. The office assistant was incorrect, and the lesions had not increase in size after all. The neurologist apologized for causing us undo stress, and recommended that BJ get another follow up MRI in 6 months.

At this point, BJ was done with doctors and tests and MRI scans. His symptoms were manageable and he went back to attributing any issues to his bulging disc and stressful job. He blew off the follow-up MRI and life went on as normal. That is, until it didn’t.

My husband is a lot of things, stubborn, confident, and determined. He was never an anxious person, and certainly not paranoid. In 2017, on top of all his other issues, BJ began to experience panic attacks. I remember him calling me from work, telling me the walls felt like they were closing in on him. He said he felt like he was going to have a break down. After talking for a few minutes, he settled down enough to finish out his day. But the episodes started getting worse. His heart would race, his vision would blur and one time he even passed out. When it started to seem like he was experiencing mini seizures, back to the neurologist we went. We chose a different neurologist with a no-nonsense reputation, and thought we would finally get some answers.

The new neurologist put BJ through a series of physical tests that had not been done before. These tests examined his reflexes, his motor skills, his strength and his vision. These tests confirmed that BJ was having neurological issues, but they were also inconclusive. An EEG was ordered to test for seizure disorder, and the results were negative. BJ was diagnosed with essential tremors in his hands, and referred to a physical therapist and an occupational therapist to work on regaining his strength. He never noticed a difference, and stopped going to both after a few months.

2017 was also the year that BJ decided to quit his stressful job and start his own power washing business. Things were going good with his new company, and he was happy to put his old job behind him. It was around this time that his dad moved from his home in Washington State to come and live with us in NY. It was a big adjustment for all of us. But once again, his symptoms became manageable, and he only had to see his neurologist every three months to monitor his progress. We were naive to think everything was ok.

In August of 2018, BJ began to experience new and frightening symptoms. The numbness in his feet and legs started to travel up the left side of his body into his neck and face. He was having difficulty swallowing and he was having bouts of double vision. His gait became so unsteady that he started borrowing one of his dad’s canes to get around. I will admit right now that I am a horrible human being. When BJ’s new symptoms started I attributed it to anxiety from starting a new business and having his dad move in with us. I was dismissive when he tried to talk to me about how bad he was feeling, and I made him feel even worse by nagging him about not going out and drumming up new business for the company. I have no excuse for the way I acted, except to say that none of the doctors we had seen up to this point where able to tell us what was wrong with BJ or give us a concrete reason for his symptoms. I started feeling resentful that I had to get up and go to work every morning while he stayed home with vague issues no one could explain. I have to live with that and I try to make it up to him daily.

I was at work when BJ called to tell me he was driving himself to the ER. That should have been my first clue something was not right. BJ HATED going to the ER. Usually I would have left work to meet him there, but I was busy and just told him to call and let me know what was going on. The second time he called was to tell me they were admitting him ASAP. They feared he could be having a stroke. I left work and rushed down to the ER

When I got there, they already had BJ in a room hooked up to monitors and other equipment. I could see why the staff feared he was having a stroke. His speech was slurred, his face looked like it was drooping on one side, and he couldn’t swallow. His double vision was not going away and he couldn’t walk without assistance. They took him in for an MRI and he suffered a panic attack in the machine because of his inability to swallow.

The results of the MRI showed a new lesion on his brain, located in the Pons region of his brain stem. You can read about the functions of the Pons HERE. Of all the places for BJ to get a new lesion, this was the absolute worst. Because this lesion was the cause of all his new issues, we decided to give it a name. We wanted the name to sound foreign and alien, and YAG was born. From that point forward, whenever anyone would talk about the lesion on his Pons, we let them know it was YAG. We got some strange looks, but sometimes you have to keep your sense of humor when dealing with things that scare you to death.

BJ was scheduled for a spinal tap to give the doctors and specialists more information for a diagnosis, but the results came back inconclusive. His blood work showed low vitamin D, but nothing else out of the ordinary.

One by one, various conditions were ruled out. It wasn’t stroke, Lyme Disease, or MS. They said no to Sarcoidosis, Parkinson and a host of other neurological issues. When they ran out of neurological causes, the ER doctors finally concluded that YAG must be cancer that had metastasize from another area of BJ’s body. A full body MRI was scheduled to locate the origins of the cancer. This was the THIRD time BJ and I were told he had cancer, and instead of being devastated and scared, my reaction was PROVE IT! They couldn’t. The full body MRI came back negative for any cancer. YAG was still a mystery.

BJ was given a mega dose of intervenes steroids at the hospital and sent home the next day with a referral to yet ANOTHER local neurologist.

Our appointment with the new neurologist was quick and to the point. We were basically told that no one locally could diagnose BJ’s condition and it was recommended we travel out of our area to seek a second opinion. After much research, we chose Johns Hopkins in Baltimore based on their nationwide ratings in the field of neurology.

So in October of 2018, we had our first appointment with a neurological specialist and his team of problem solvers. We took to calling our new neurologist “Dr. House” after the diagnostic expert from the tv show by the same name.

The first thing our new neurologist noticed, that all the others before had missed, was that BJ’s MRI’s showed multiple old lesions that had healed over the years. This indicated that YAG, and the first two lesions that showed up in 2016, were not isolated. After more physical exams, follow up MRI’s of the brain and spine and enough blood tests to feed all the vampires in Transylvania, BJ was tentatively diagnosed with a demyelinating disease of the central nervous system of unknown origin. To read more about demyelinating disease click HERE.

Without knowing the cause of BJ’s demyelinating condition, treating him could be risky. Immunosuppression drugs carry their own set of risks, and without a clear diagnosis, there was no way to predict how BJ’s body would react to that treatment. The neurologist decided to put BJ on a massive dose of oral steroids for 7 days in the hopes of further minimizing his latest symptom, and that protocol worked. His double vision went away, he regained some strength in his legs and he was able to walk again without the aid of his cane.

A full body PET scan was ordered to look for any inflammation or other abnormalities which could help the specialists at Johns Hopkins pin-point a diagnoses to BJ’s condition, but again, the results were inconclusive. We were told it now appeared that inflammation was the probable cause of BJ’s demyelinating condition, which basically meant the demyelination was a symptom of the disease and not a cause of the disease. But what it really meant was that we were no closer to having any answers.

In February of 2019, BJ got another follow up MRI of his brain and spine. Happily, YAG showed signs of healing. The bad news (and it seems like there is always bad news) is that the MRI showed two new active lesions on his brain, and lesions on his spine.

We were told about a special MRI machine at Johns Hopkins had that could zero in on  lesions making it easier to do a brain biopsy. After discussing the pros and cons of this procedure, we decided to pass. Another option was for BJ to try the immunosuppression drugs and hope for the best.

While we were mulling over our (lack of ) options, “Dr. House” and his team were still diligently trying to find us answers. It was near the end of April, 2019 that the amazing team at Johns Hopkins admitted they were unable to offer us a diagnosis. We have so much respect for BJ’s neurologist for wanting the best possible care for him. Instead of guessing on a possible treatment, or putting him through more tests and scans, he told us it was time to go to “the best of the best”. And that’s how we got our referral to the Mayo Clinic in Rochester, Minnesota.

And that takes us back to the start of our 1044 mile road trip, looking for allusive answers at a world famous clinic. Praying they can help us, because if they can’t….where do we go from here?

I will post a link to my entry on our road to Minnesota HERE once it is ready, and

I will post a link detailing our time at Mayo Clinic and what we found out HERE.