What Does it Take to Get Treated for Rare Disease? Part 2

I contacted my specialist and he hunted down my primary’s email from her office staff.

She never replied to his email.

When I called her office again to inquire as to why, her MA told me she does not even return her own staff’s emails. That’s all the help I received.

So, I went back to my specialist and he called her staff personally and hunted down her cell number. He called and had to leave a voicemail.

After a few days, my primary returned his call (at last) to ask why couldn’t a local neurologist handle this instead of her medical system, just asking for her sign off on his order? Yes, really.

He had to explain everything to her including how this basic process and treatment usually works. Things I already repeatedly told her, but she decided not to believe me, the rare disease pariah. It required my Johns Hopkins specialist to gain her attention.

My primary’s MA then called me to say they had to “fill out paperwork and fax it up to the Infusion Clinic upstairs.” She promised to keep me informed of the latest. Well, you can guess what came next.

No one called me.

I called my primary’s office back, and after awhile, the MA called me. She told me I had to call the Infusion Clinic because they could not understand what was happening. She had to give me an inside number since they do not provide those to rare disease patients in distress like me. The phone number did not work. I had to call my primary’s again. After several hours, the MA calls me with another number and some names of who should answer. I called, and the woman who answered was curt and irritated at me, even after I explained everything to her.

She told me they had been waiting to hear from my insurance company for a second authorization they wanted; the first my Johns Hopkins specialist had already obtained.

At this point, it had been two weeks since my primary sent them everything they needed to schedule my infusions. The woman on the phone told me I needed a better primary care doctor, who is their director of internal medicine/primary care, just two floors beneath this woman.

I do not think she even realized my primary care doctor is their own system’s Director of Internal Medicine/primary care downstairs from the Infusion Clinic, since she did not bother to look at the documents well enough. She just kept trying to raise her voice over mine and get me off of the phone, a trick with I have become familiar over 22 years. I refused to hang up and as my body seized and the pain sliced through, I fought with all I had, borrowing energy from some unknown force, to tell this woman succinctly and clearly that a “pre-certification” from my insurance never takes this long.

They honored my specialist’s spinal MRI order within one day.

She told me they would “keep an eye on it,” completely disdainful and indifferent to my suffering and their incompetent withholding of my medically overdue and urgent treatment. She had a kind of loathing in her voice that told me it is my fault I have the rarest form of a very rare disease. This loathing told me I am a horrible person for fighting for my medical care; why should she care if I continue to progress and remain untreated?

I called back the MA at my primary’s, at the MA’s request, and two hours later, she returned my message after my primary doctor has left for the day. I told her everything the woman in infusion upstairs told me and, at least, the MA was aghast at how I was treated and what was said to me.

The MA vowed to inform my primary doc and work with her to remedy the neglect of their Infusion Clinic. After a week, no phone call from my primary’s office or Infusion.

I contacted my Johns Hopkins specialist once again for his help since that seems to be the only way anything is accomplished for my medical well-being. He is on vacation until after the weekend, but I hold onto the hope that he can call again and correct these injustices, all just so I can receive my infusions and not be essentially paralyzed at home.

I share this one odyssey to show what adult, infant, and child rare disease patients must endure just to obtain essential medical attention and treatment.

Multiply it by 22 years of progression and an ignorant, unnecessarily cruel medical system for my rare disease fight. We are not well enough to fight endlessly for care while so horribly ill, but we do it because we have no other option.

I need to thank my rare disease neuromuscular specialist at Johns Hopkins with all of my being.

To him: Whether or not you can get my home infusion clinic and primary doc to help anymore at this point, you gave me back the shreds of hope to which I cling. Hope that I might one day receive the medical care that was ordered, approved by insurance, and available for me to try, but is being kept from me because of a careless medical system; my home medical system is rated the best one here, of all ironies. No primary doctor is accepting new patients in my area, either.

May I maintain the strength to keep waiting, during what will be the fourth month, for that phone call from Infusion that says “Yes, let’s schedule your medically urgent care. Yes, lift your seized arm to try to hold the phone; we’re going to give you some dates to come in for treatments.” When that happens, I will know my compassionate, truly amazing and incredibly knowledgeable, Johns Hopkins specialist, eight-driving-hours away, will have worked his magic upon an immovable people who work two miles from my home.

Lastly, to someone else: My aggressive SPS does not make me a medical pariah; it makes me your patient who requires your basic medical attention, dear home clinic. I already have done all of the work for you. Your turn to provide the medically vital treatment.

Update: I found out, after I repeatedly called my primary doctor’s MA, that the Infusion Clinic has been ignoring three pieces of paper they needed to fill out and send to my insurance company for 17 days, as they sat on their clinic desk, in spite of all of my inquiries. Three pages in order to ensure my treatment.

My primary doc stepped in, took away the pages from Infusion, and filled out and faxed the few pages to my insurance company in an attempt to procure my treatment for which now I have waited four months. Now, I just have to hope someone will contact me soon to schedule my first infusion appointment.

My Johns Hopkins specialist and his staff are not responding to me any longer, either. As hard as I fight, especially over these last four months, I still do not have medical care from my doctors. I remain untreated and in constant physical danger as a result. This story is far too common for SPS patients. We are left with no treatment and no medical attention. It has to stop. I hope sharing my story will help to stop this neglect.


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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