What Does it Take to Get Treated for Rare Disease?

Dear Primary Care Clinics, Rare Disease Warriors Are Not Pariahs; We Are Your Patients. -From a SPS Fighter

As a rare neuromuscular disease patient, who fought 21 years for a SPS or “Stiff Person Syndrome” diagnosis, I was certain after four visits and testing with my premier SPS specialist at Johns Hopkins, that my home Connecticut medical system in which my Primary Care Doctor works, would honor my rare disease specialist’s faxed order for plasma infusion. These treatments are for my progressive, severe muscular rigidity that confines me to a wheelchair and keeps my muscles in excruciating seize.

When the order was put in, my specialist’s wonderful nurse confirmed the order was received and accepted by my home clinic in March of this year.

For me, living with SPS means any physical activity from picking up and trying to write with a pencil, to attempting to type, to fighting to take a shower intensifies my muscular rigidity and seizing. The muscular constriction squeezing my ribcage makes breathing difficult. My cemented muscles this week have made it impossible to bend my legs or walk. The plasma infusions are the next step to attempt to grant me relief and a good possibility of improved mobility.

Back to March: My specialist faxed my infusion order to my home infusion clinic in CT from Baltimore. Patients with rare and more common diseases often have one or more specialists who can help them in states other than the one in which we reside, if we are that lucky, and it is common practice to receive your infusions at your home infusion clinic since the treatments are frequent and last months. Also, your specialist and your primary doc know you are not well enough to travel endlessly and afford lengthy stays at hotels near specialist clinics.

After a week of hearing nothing from my home infusion clinic, I called and was told they’d have to find the order. Weeks ensued of me calling, leaving messages, receiving no return calls at all. Finally a nurse from the infusion clinic calls to tell me, three months later in May, that the medical system did initially accept my specialist’s order but, then, changed their minds and rejected it saying one of their own doctors had to order it. She also said “and nobody bothered to tell you.”

She advised me to speak with my primary care doctor there and just have her sign off on the order to fulfill a bureaucratic demand.

To give background on my primary clinic: I had already exhausted neurology there and no one could help, nor did they seem to really care to help me. I instead received sarcasm, inappropriate jokes about my body being “weird,” and a confession of complete ignorance; their neurologist to whom my primary referred me, told me I knew more about SPS than he.

He did not even try to seek out another specialist for me because he said he didn’t know anyone here who treated Stiff Person Syndrome.

Because of this, I had decided to seek out the finest specialist and SPS researcher at Johns Hopkins; the best thing I could have done for myself. However, I kept seeing my home primary doc of nearly two years, and I have been keeping her fully informed regarding my medical need to receive help from the Hopkins specialist, who could actually provide it.

So, back to getting my primary doc to sign off on the order: I leave detailed phone messages which are sent electronically to my primary doc about what happened and how badly I need her help. My Johns Hopkins specialist kindly re-faxed, for the third time, his infusion order including protocol, instructions, and prescription, all of which any Infusion Clinic is supposed to be capable of handling. He, of course, faxed it twice to my primary doc’s office so she would have it, read it and sign off on it for me, since the infusion clinic, two flights above her, refuses to help or speak with her downstairs in Internal Medicine.

They place the burden of every bit of communication and possibility of help upon me, the severely ill and disabled rare disease patient, even though it would be simple to communicate with one another, as they are inter-departmental and tend to grant one another more respect than they do the patients.

This in comparison to my specialist from Johns Hopkins, who would help immediately with faxes and provide even more documentation than needed.

Finally, I had to pay for an appointment with my primary doc, as if I was seeing her for medical attention, just to talk with her directly about what was going on so she and I, and the infusion clinic upstairs, were all on the same page… and because she never returned any of my calls.

She immediately stormed into the exam room angry at me and telling me she needs communication. Yes, really. I told her about every communication I made and how she never returned my calls. She immediately became very quiet and shook my specialist’s infusion order at me (hey, at least I knew she had it) and asked why I can’t just stay in Baltimore for several months, the entirety of my treatment, and have it done there?

As a rare disease patient, I thought she had understood my debilitation regarding travel and finances for infusions that would last for months.

I told her my own home clinic should be able to provide my medically urgent treatment. I had long ago supplied her with my entire Johns Hopkins record as well as my specialist’s contact card, but she just refused to call or email him.

She said she was afraid of not knowing what to do if I had a reaction.

I told her the Infusion Clinic is supposed to handle that and, if they cannot, the ER is directly across the street. I begged her to have a brief phone consult with my willing specialist at Johns Hopkins.

But she never contacted him.

She simply refused to follow her own employers’ instructions and sign off on my order so I could receive my desperately needed medical care.

Keep an eye out for part 2 coming soon, to see if Angela finally got her treatment.


Angela Davis

Angela Davis

Angela Davis is a rare disease writer and advocate. She was published in last year’s congressional press release to support and fight for the ultimate passage of Cures Now, and she has 16 published pieces on The Mighty. She is also a published fiction writer and is working on her first novel every time her disease permits. Her pieces on rare disease have been shared by prominent organizations such as Global Genes and NORD. Once a busy writer, Angela grew progressively debilitated over 22 years with the rarest 20% of a rare neuromuscular disease, Stiff Person Syndrome, which affects one in a million and has no effective treatment or cure. She lives and battles for medical care in Bar Harbor, Maine with her devoted husband, Devin. They have one sassy rescue cat named Maeve. After care at UCLA Neuromuscular Clinic and Johns Hopkins, Angela is now without any specialist attention since she has exhausted help from top rare neurological doctors in the USA. Angela’s Twitter: @DavisAngesdavis, Facebook: angela.s.davis.37

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