The Challenge of Being a Patient with a Rare Disease – #PatientStories

Posted on June 2, 2017 I Written By

John Lynn is the Founder of the blog network which currently consists of 10 blogs containing over 8000 articles with John having written over 4000 of the articles himself. These EMR and Healthcare IT related articles have been viewed over 16 million times. John also manages Healthcare IT Central and Healthcare IT Today, the leading career Health IT job board and blog. John is co-founder of and John is highly involved in social media, and in addition to his blogs can also be found on Twitter: @techguy and @ehrandhit and LinkedIn.

The following is a guest blog post by Chelsea Freund who blogs at The Sick and the Dating. This post is part of our series of Patient Story blog posts where we ask patients to share their first-hand experiences with healthcare.

Do you believe in coincidences? Back in 2007, I decided to go back to school to become an R.N. I had been volunteering at Phoenix Children’s Hospital as a “bedside hugger” – which is exactly what it sounds like – and decided that I wanted to be a pediatric nurse, so I was studying away. The subject was advanced medical terminology, and specifically I was on the GI tract. I had been feeling terrible all day. I hadn’t been able to eat, hadn’t had any appetite. There was a nagging pain on my right side that wouldn’t go away. Finally I forced myself to eat something but it really didn’t sit well and the pain became increasingly worse.

I continued studying. I came across a paragraph or two that outlined the symptoms of appendicitis. I stopped. I thought to myself, “No way.” But by that time I couldn’t completely straighten up, and I re-read the paragraphs again. I probed my lower right quadrant. Yes, pain, there was definitely pain. I was sweating. I was also by myself and feeling a little silly; my roommate was off somewhere with her boyfriend, so it was up to me to make something happen. I had two thoughts: 1) I’ll go to the hospital that’s a mile away, and at worst, I’ll feel like an idiot, and 2) I’m going to check ahead in my book to see what else the universe has in store for me. The next chapter was on the eyes. (This is significant.) I drove myself to the hospital, hobbled up to the front desk doubled over, and it turned out my appendix was close to bursting.

I didn’t get to finish my nursing degree. The school system that I had chosen cut out evening classes for nurses and I needed my day job in the tech field in order to survive. But what I learned in school proved invaluable.

I have three-ring binders full of my medical records that I carry with me to new doctors. In the past almost seven years, I have tallied up all of the new doctors I have seen – including those in the ER – and the count is now at 59. This is where my nursing school comes in handy. I can easily communicate using the correct terminology, plus I understand what they are referring to 98% of the time – rarely do I have to ask for an explanation. Friends tell me either that it was a waste that I went to school and that I didn’t get my degree, or that I can finish it out later, and I tell them that I’m pretty sure that I went for this purpose alone: to be a patient, and specifically to be a rare disease patient.

I have been a patient all of my life. Some people are lucky in that they rarely get sick. I was that kid who always sat out from gym class because my asthma was strangling me, or I was allergic to the chlorine in the pool so I emerged from the water with great, big hives. I was always in the middle of or recovering from some upper respiratory or lung infection.

As a young adult in my 20s, I lost all of my hair over my entire body. It’s okay, I had been losing it in increments when I was much younger; it just decided to take a hike permanently when I hit 28. At age 31, I was diagnosed with Hashimoto’s. It’s also not a show stopper – I just have a really tough time losing weight and controlling my body temperature. Going through nursing school actually gave me an advantage over other students because I already understood these processes, and in turn I had a much easier time communicating with my doctors.

I was 36 when I came down with my mystery disease in July of 2010. I have never cursed my student loans – not once. I didn’t have a lot of catching up to do in the medical field to be my own advocate, because this road has been very lonely. I have to advocate a lot while also being very sick. Not once have I ever had someone come with me to appointments or the hospital.

The very first encounter I had with a neurologist was a disaster, but I knew enough not to take his answer as the final word. He performed an EMG on my limbs, checking me for myasthenia gravis, because my face was paralyzed on one side when I was upright and I would get ptosis in both of my eyelids (but they would go back to normal immediately when I tilted my head parallel to the floor), and I had a lot of trouble walking. We agreed I likely didn’t have MS or even Hashimoto’s encephalopathy according to the MRIs I had done. The EMG came out with normal results. He wrote in my chart that what I had must be psychosomatic and sent me on my way.

I started to do a lot of research at that point. After going through 14 doctors in various disciplines, I ended up being helped by a neurosurgeon through Barrow Neurological Associates in Phoenix, simply because I demanded a lumbar puncture since that was the only test I hadn’t had done in the past year. My symptoms resolved for 12 hours, so we repeated the test 4 days later, and the exact same thing happened. We decided to insert a shunt.

However, we didn’t know I would be allergic to the shunts. I had 10 surgeries in less than 4 years. My body clogs and strangles and breaks the shunts in rebellion, now only days after surgery. My neurosurgeon gave up on trying to keep a working shunt in me. But I feel like we found something out in the process that we wouldn’t have found out if the failures wouldn’t have kept happening only because we moved the location of the shunts, and that is that the membranes in my brain are extra thick. My neurosurgeon has only seen that in one other patient in his lifetime.

After my neurosurgeon stopped operating on me, I moved back to Minnesota so my family could help to care for me – I can’t be upright for any length of time before my face becomes paralyzed and my eyelids are 80% closed, and the pressure in my cranium builds to an intolerable level. After I moved, a former acquaintance happened to find my dormant account on Twitter. He had actually been looking for a former client with the same first name, but was happy to reconnect. When he read my blog, he encouraged me to actively use Twitter to make connections and join chats. It’s because of his tutelage that I’ve been a guest on podcasts, became a product blogger, and have been in contact with various researchers, so I’m forever grateful.

One of the researchers I connected with has discovered the lymph node system in the cranium, which was previously thought not to be present. We traded a few emails, but the biggest barrier is that I’m a human, and he works mainly with rats. It’s a big leap to go from rodent to human in his world, even if we can both see the possibilities. So though there may be some sort of connection between my thick membranes and his newly-discovered brain lymph node drainage system, he’s probably not going to look at me until my brain is ready for slides.

Since I’ve moved to Minnesota, it’s been very difficult to convince doctors to see me, much less keep me as a patient. In fact, after five unsuccessful tries to get in, I now have an official letter from the Mayo Clinic telling me they will not see me because I’m too rare to diagnose or treat. I had one neurologist tell me she was “just a neighborhood neurologist,” so there wasn’t anything she could do for me. I had a rheumatologist tell me to do Thai Chi, and then write in my records that I was being non-compliant for not doing it, even though my severe vertigo doesn’t even allow me to stand in a shower. I’ve had endless doctors pat me on the knee and tell me that they couldn’t help me but they were sure “someone” could.

I finally settled on a neurologist – I think she was the 58th doctor to see me – because she ordered the tests I asked for, and even one I didn’t: I wanted an upright MRI because everything happens with my symptoms when I’m upright, and I got a cognitive function test to boot. When the upright MRI showed that all of my ventricles collapsed and I have a tumor, she attempted to refer me to a neurosurgeon. The neurosurgeon sent a letter back saying that “nothing looked out of the ordinary.” I’m no expert, but then again, I’m no slouch – and I just happen to know that looking at my corpus callosum on the MRI, it should not look like Charlie Brown’s crumpled up hair swoop. The search continues for any neurosurgeon in the state of Minnesota who can handle my case. The neurologist has agreed to keep me as a patient, but her nurse often calls and starts with, “The doctor doesn’t think she needs to see you, but if you feel like you want to see her, you can.” That’s not exactly the welcoming committee.

I do have a few excellent doctors. I wish I could clone my GI doctor and carry him around in my pocket and take him out when I need a pep talk. He has the best bedside manner and has taken the time to talk to me about what is happening with me besides my intestinal tract because he’s truly interested and he wants to help. I think my pain doctor is a standup guy too; he’s in the process of moving to another medical group and deliberately chose one that didn’t have a non-compete clause. It meant less money for him, but it also means he can keep seeing the same patients. He has learned to respect me because he recognizes that I do my research and I’m a rule follower.

I have another doctor and diagnosis simply because of coincidence, and it’s a big one. While I was trekking around and being rejected by so many doctors, a friend called me up and said, “Why don’t you make an appointment with this mast cell activation syndrome doctor? It seems like you have a lot of the symptoms.” I thought to myself, “Well, why not? I’m making all of these appointments. What’s another appointment?” It turns out that that particular doctor takes a year to get into for the initial appointment. There was a cancellation, so I got in within eight months. And I did get the diagnosis. And it’s the reason my body rejects the shunts. And this doctor moved to Minnesota a year before I did. I have been assured that he won’t send me away like all of the other doctors.

So if we are in the same city and we happen to meet, I might show you my stupid human trick, which is to tilt my head so that the fluid moves around in my cranium and my face becomes un-paralyzed and I can see again. If you have the time, I may whip out my binders of medical records. I can explain everything to you. You just need to believe what you are seeing and keep an open mind.

Thanks to Chesea for sharing her story. Be sure to read other