Why My Anniversary Wish Is a Doctor Who Will Not Neglect Rare Care

In July my husband and I celebrate our 20-year wedding anniversary. He doesn’t deserve to spend it with me incapacitated by a rare neuromuscular disease that has not even intrigued specialists or doctors enough for 22 years. I do not deserve it. I have spent 22 years in a devoted diagnostic odyssey. My husband joined me in this rough journey for the entirety of our marriage. I am very lucky because he did so and continues to fight on with me in extraordinary dedication and tremendous love. Still, we both deserve so much better. We deserve concern from the medical community. I deserve a doctor who cares and wants to try to help instead of blowing me off because I am rare and they do not know how to begin to address my illness on the first visit.

The worst and most recent medical appointment for help, or any effort at all from a new PCP, astonished me and my husband with outward hostility and discrimination. The doctor had all of my transcripts from my specialists and former PCP two months ahead of my appointment, including special letters from my top specialist explaining and attesting to the necessity for the continuation of my medications, since they are the only prescriptions the medical community can offer the most rare, debilitating variation of what has been diagnosed as stiff-person syndrome (SPS).

Immediately, this new PCP entered the exam room, which was too small for my wheelchair, with a sarcastic smirk on his face. He did not introduce himself, so I conducted the introductions firmly, but respectfully. When he ignored me and my husband in the room, he scanned details of my transcripts on his computer and shook his head, letting out a disbelieving chuckle. Finally, after too long of this particular nonsense, I asked if anything was amusing about my rare medical history. He decided to make eye contact with me at last and said, “They love running up the bills to label something ‘rare,’ don’t they?” Now, I was sitting in a tiny hardwood chair and I couldn’t even move my arms or legs. I used the wall to hold up my head to meet his gaze and asked, “How much do you charge to question the top neuromuscular specialists in this country? I waited nearly three months to see you and try to obtain some medical support from you, not another barrier. I cannot even stand up for examination. Please believe my expert doctors and listen to me. Please.”

He was awkward, hesitant, and his silence spoke volumes. “I’ll listen to your heart and lungs, but that’s all I can do for you,” he finally announced. “That’d be great. I thought you were going to serve as my primary care doctor as well. I need the same regular check-ups and visits as any other patient. It is my right to receive primary medical care. I do not expect you to know everything. I am accustomed to explaining my rare disease to all of my specialists and my former PCP. I really need you to support me.”

He just stared at me — a sarcastic, disbelieving stare. I was the enemy, the patient with rare, progressive neuromuscular disease. He was the intimidated doctor ready to take out his willful ignorance upon me. He did listen to my heart and lungs and then stared at me some more. “I am trying to find a specialist at the Mayo Clinic or catch a lucky break and be eligible for a clinical trial at the NIH.” He just smirked and replied, “Yeah, you let me know how that goes.” Never once did he ask how my daily life was affected by rare debilitation, so I told him. Every time I spoke up clearly and concisely for myself, he became more hostile. Our insurance is excellent, so I wondered what his problem with treating me could possibly be.

Finally, he told me to pee in a cup so they could check for any drug abuse. I have no addiction history whatsoever, and I have never abused drugs. I was labeled “Pollyanna” in school because I did not drink or party with drugs. I was being punished for the only two prescriptions the medical community can offer my rare condition. He deliberately flouted these regular prescriptions and additional emergent letter from my most recent specialist, stressing the vitality of the continuation of these meds in order to prevent seizures, bone fractures from twisting, squeezing muscles, and, of course, for the intractable acute pain. This new PCP who refused to exert any effort to adhere to my medical records or to listen to me told me if he was going to prescribe these meds, I had to find a way to pee in a cup with no help from anyone, despite the fact I am confined to a wheelchair.

I told him that, sadly, I was used to this discriminatory treatment, but I could not believe he was dismissing my official medical transcripts, which he had two months to glance at before my appointment was available. Every time my husband tried to talk, this PCP raised his hand out in front of him to indicate he refused to listen to him. My husband works for a medical research facility not too far from the PCP. They research and study rare neuromuscular disease, so in addition to bearing witness to 20 years of my rare battle, my husband is highly informed and articulate in discussing my disease. The PCP really did not want to hear anyone educated and knowledgeable on my rarest SPS. He would not even adhere to my specialists’ notes, records, and letters.

I told him, fine, I’d twist myself to pee in a cup, but he’d better have those prescriptions ready or I would be in emergency care, because that is what would have happened since he was fine with playing with my life. I also requested he run regular bloodwork on me, the usual CBC plus ferritin and iron checks since I battle anemia and require Venofer infusions for it. I reminded him, knowing he did not bother to notice, that regular bloodwork had not been ordered for me since the previous fall. It was well overdue. Again, he just stared at me and said nothing. It felt cruel and mocking. Message received.

I was pushed to their bathroom door near their lobby for all to see, and I slinked and shuffled by myself to the toilet. I grabbed onto a bar on the wall and did my very best to pee and aim into the cup without my seized hands dropping the cup into the toilet. I managed to capture a sample all on my own through the sheer force of my indignation. Of course, my drug screen results were clear. The PCP told me he’d send the meds to my pharmacy and told me “good luck in getting any specialty help.” I told him “Oh, I will find help, I am good at it.” He just raced of to his office and slammed his door, angry he had his lack of skill as a basic PCP exposed and fuming that he had to deal with a rare disease patient.

When my husband pushed me in my wheelchair to checkout, the staff was flustered and made us wait and wait in a tiny space while they tried to locate my post-visit print out. When they finally gave it to me, they had left off anything that indicated my prescriptions, just two, were ordered or that any bloodwork had been ordered. I made them correct it and the women working the desk said “We’ll just put a sticky note on his computer so he does not forget.” I told them I had been there all morning and had gone through unprofessional, discriminatory hell enough already. I told them I was heading to my pharmacy right now and they were going to make certain my promised regular meds were waiting for me. My husband told them in 20 years of my medical appointments, he’d never witnessed such abominable, outwardly hostile treatment from a doctor as I/we had just suffered. Again, they just stared at us. “So, now we just outwardly hate patients because they have a rare disease? That’s where we are again?” my husband demanded. They just stared, handed me my checkout summary, and we left.

At the pharmacy, my meds were there and were being filled. Persistence on your part, no matter how negligent your medical treatment, manifests results. No bloodwork had been ordered, though, ever. So, with the whole area claiming no PCP was accepting new patients, I turned to my nurse case manager, a much needed benefit through my husband’s job, and she found me a PCP who was very eager to treat me, it’s just still a wait. At least, thanks to my nurse, both my husband and I will be her patients soon. When I called the PCP’s office, the staff were so compassionate, eager to help, and sent me new patient packets ahead of time. Soon, I will have my new appointment. Until then, it’s yet another just summon the superhuman strength to wait for primary treatment. As for a specialist for my especially rare disease, only a few exist in the country and have waiting lists years long. I will keep fighting for my right to a proper specialist as well.

In the meantime, my husband and I deal with my seizing, spastic musculature, vomiting, ever present acute pain alone. We both know more than any doctor so far, anyway. Yes, this is unacceptable, and it is rare disease reality. While friends post online all about their summer vacations at resorts, and colleagues brag to Devin about all of their summer travels to Europe at work, we consider it a tremendous achievement if I can make it outside with my husband’s help one day a month. I pay for that one day out for iced coffee, for enjoying views of the gorgeous outdoors, with even tighter and more stone-like muscles for several weeks.

My husband deeply, truly loves me, and I adore him. I know we deserve so much more for our 20th wedding anniversary. We are both rare warriors, and all rare warriors deserve so much more from the medical community, from their friends, from colleagues, from anyone who can offer compassion and the kindness we are too often denied. This is the reality of rare and it is far too common. In a culture that tends to choose cruelty and indifference toward anyone not of the “status quo,” kindness is itself a rare condition but desperately required. Rare patients like me should not ever have to fight this hard for basic medical attention, for basic dignity, for basic requests for help.

My anniversary wish is that some rare neuromuscular specialist out in the world will want to take an interest in me, that he or she will deem my complex case worthy of proper attention. May they comprehend how much progressive suffering they may be able to prevent or relieve. May they understand and empathize with how it affects my family and personal life, and help to champion the rare disease cause. Our anniversary wish, after battling this diligently and this hard during all 20 years of a loving marriage, is that a rare specialist would want to treat my case as one that is as deserving of careful attention as anyone else with my rare history. We deserve that. All of us deserve rare care! It’s about time we receive it.