7 Insights for Rare Disease Specialists, From a 'One in a Million' Patient


Dear Rare Specialists,

We patients need your help. Below are seven challenges I’ve experienced in accessing appropriate care. Unfortunately, these experiences are not “rare” for patients like us. May we work together to alleviate and one day, even cure these rare disorders and illnesses.

1. Rare patients must climb a “brick wall” of medical ignorance. Oftentimes, doctors’ lack of knowledge about rare diseases can prevent us from accessing proper care, especially continuing care as we hunt down every specialty clinic for any help.

2. Judging the patient instead of taking interest. My recent visit to see my fourth neurological specialist serves as an example. The doctor walked into the exam room late and just glared at me. No introduction, just an intimidating stare. I offered my hand to shake and introduced myself and my husband. I had to fill him in on everything his staff and my referring PCP had told him about my case for weeks.

3. Little desire to listen to prior specialists. My specialist had my records from the UCLA neuromuscular clinic and the notes from the chief of the clinic who diagnosed me on the computer in front of him. He had my husband and me there to explain all I’ve endured with stiff-person syndrome (SPS) over 20 years. He had all of the forms I submitted prior to the appointment, which I fought via endless phone calls to expedite due to the aggressive severity of my debilitation.

He could have glanced at UCLA’s notes or even taken a moment to view the referral. As usual, I explained everything about SPS the way one doctor would speak to another. I told him how much I needed his help because the only med I take for SPS is not controlling my spastic exertions, especially in my sleep. (I am homebound by intractable rigidity and seizing which results in acute pain without any relief or assistance.)

4. The patient often has to “be the doctor” in the room. He had no idea what to offer for acute pain management. Nothing. Except to tell me he does not like pain meds. Apparently, he had no issue with untreated disabling life-long pain. When I inquired about the plasma-based therapies for SPS, he said he thought they were “too dangerous,” particularly with my anemia and they never have been able to convince insurance to cover their atrocious cost. UCLA recommended them regardless. UCLA also recommended Percocet at least and a much higher dose of diazepam. He just prescribed one more pill a day for three months, even though he admitted it probably would not be enough.

I asked him to consider genetic testing, and he said “it was too expensive” to insurance companies. I let him know I know how it works and to let me worry about my portion of cost. He tabled it and would not prescribe it. My husband and I advocated aggressively, trying to get him to understand he was leaving me without any treatment. His resident stood in the room the entire time, asked me a few basic questions and spent all of her time assisting him on the computer.

He then confessed I knew far more about SPS than he knew, even though he was treating three other patients who have it. I had to be the doctor in the room. I had to tell him what he should be ordering for me.

5. The patient often has to suggest the help. I demanded a wheelchair, which my PCP refused to order until I saw him, since she thought he could recommend a better walking aid. She also refused to continue my pain care since she thought he would know of something better. She would not listen to me when I told her UCLA and every other clinic had no other options for me. So, I waited without any walking assistance for six weeks until this exam with him. He said the wheelchair was fine, but he did not know how to order it through their computer system. He instead said he’d send a note to my PCP asking her to order the wheelchair. Between my nurse advocate re-faxing my PCP and me calling her office, we finally got through to someone so she would read his note and prescribe the chair. I never heard from anyone in my PCP’s office.

The medical supply folks just called me. This afternoon, the wheelchair will finally be delivered. It only took six weeks of my tenacity.

6. The rare disease patient must remain tenacious. I persist in my desperate search for an educated SPS specialist. My nurse advocate, who I have for the first time in 20 years through my husband’s employer, wants to try to get me in to see the one national expert at Johns Hopkins. Due to his high demand, it’s nearly impossible to see him. If we can convince him my case is severe enough and it remains without treatment, he may see me. Another sojourn to yet another state to plead for treatment. 

7. Specialists have to care in order to provide care. Upon leaving the exam room, the specialist walked off and said to his resident: “Now can I go home?” It was before 2 p.m., and I did everything I could to be prepared and not be treated like an impediment to my doctor’s free time. Our first step is making doctors care about us and utilize empathy for us.

This is a typical rare disease patient battle to obtain treatment, to save our own lives and the lives of our children with rare diseases. We need orphan, rare disease research funding to save millions of lives. No more of “no more help” for SPS or any other rare disease patient. No more “automatic condemnation” to endless struggling until our bodies give out. Without a basic level of compassion there will continue to be no help for us. Specialists have to care to provide care. For now, I remain my own specialist.

The Mighty is asking the following: What’s the hardest thing you deal with as someone with a chronic illness, and how do you face this? What advice and words of support would you offer someone facing the same thing? Check out our Submit a Story page for more about our submission guidelines.


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