As children, we are taught from a very young age to question everything. There is no such thing as a dumb question. We learn through asking questions. We are told we need to question authority. So why is it when it comes to the rare disease community, so many questions are left unanswered?
When you become a part of the rare disease community, you do not receive an invitation. You are not welcomed in with a cup of coffee and pinned at a new membership meeting, you’re thrust into a new realm without a roadmap. There may be others traveling in the same general direction you are, but your headlights are the only ones on the road. Suddenly there are no shortage of questions.
What does the diagnosis mean? What will the treatment look like? Who will be my doctor? My loved one’s doctor? What’s the prognosis? And the most frequent question – why?
My daughter is one of those 15 million, and while we are grateful she has the best possible medical care and celebrated her seventh birthday this year, there are still questions about her health and future. Why?
My father was diagnosed with a rare disease called amyloidosis in 2013. His diagnosis came just weeks before he passed away. For two years prior, he was in and out of emergency rooms where highly trained medical staff, the best in Kansas City, could not treat him. Why? He didn’t have a diagnosis, and therefore he didn’t have a treatment protocol. But even if he had a treatment protocol, there was no guarantee that the highly trained medical staff would have had it on record and could have executed it. So we stand in the gap.
When my daughter was born in 2009, she spent a few days in the NICU for hypoglycemia and jaundice. We were released in five days and when she didn’t put on weight as expected. We increased her feedings and masked what was really going on with her.
Four months pass and we’re in the emergency room because of a single feeding I missed because I let her sleep. Suddenly ten different medical professionals are crammed into her cubicle in the emergency room, struggling to save her life while my husband and I stand there. In the gap. Five days later she is diagnosed with panhypoputuitarism and secondary adrenal insufficiency and we are the only headlights on the road. We are discharged with scant information on how to treat this rare diagnosis, which comes with pills three times a day, a daily injection, and two emergency injections.
When you are diagnosed with adrenal insufficiency, or AI, a little vial of SoluCortef is your lifeline. See, people who do not have adrenal insufficiencies naturally produce up to ten times the normal amount of a hormone called cortisol, which is vital to the maintenance of blood pressure and heart muscle tone, as well as sugar and salt balance, during times of physical stress. When illness or injury occurs in adrenal insufficient individuals, however, an immediate additional dose of glucocorticoids (hydrocortisone) is necessary to avert adrenal crisis. Delaying treatment means shock, heart failure, coma and/or death. We’re not talking about delaying treatment for a few hours, we’re talking 30 minutes or less.
For around eight dollars a syringe, you can buy this shelf-stable med and carry it with you. It’s literally life insurance for AI patients. So we buy the meds. We get the medical bracelets. We put stickers in our car windows, magnets on our tailgates and labels on her seatbelt.
We hole up at home and read everything we can get our hands on regarding her treatment and prognosis. We talk to doctors. We explain her condition to family. And we’re feeling like we can handle this diagnosis. We can handle the daily shots and meds and treatment protocols. We have several emergency injections on hand and we’re ready for the worst. If she breaks her arm, give the shot. If she has uncontrollable vomiting, give the shot – the list goes on, but we’re confident – we’ve got this.
Now before you all get excited and think the happy ending is just around the bend, it’s not. Today the gap for treatment of rare disease patients in an emergency medical situation looks much different than for the “typical” population because even though we never leave the house without these kits, they are useless. They are useless because without proper treatment protocols, EMS will not administer them in an accident.
Imagine. Seven years of appointments, treatments and tests. Imagine growing up and not knowing any different. Imagine being seven and battling a rare disease while your parents drag you across the country to meet with doctors while looking for a diagnosis for a new condition that you’ve developed.
You’d probably want a break, right? Maybe it would be nice to jump in the car and head out with the family to grab an ice cream cone. But life happens. There’s a car accident. You break your arm, but mom and dad are out cold. Who will give you that shot? Who will prevent your medical crisis, prevent a coma, and save your life? Who will stand in the gap?
Typically, you might think the highly trained EMS staff will do it. You can hear their sirens in the distance, the Calvary has arrived.
But there are no protocols in place. The tool is there and everyone knows how to use it, but because there aren’t printed instructions, no one is allowed to use it.
And we’re not the only ones affected. There are 30 million Americans who play Russian roulette with their lives every time they leave their house. Drive their car. Cross their county line. Ride their bike.
If we are to question everything, in my opinion, it’s worth noting that the two billion dollars in NIH funding for rare disease research means nothing. It means nothing at all to me if we can’t develop emergency protocols that allow our highly qualified EMS providers nationwide to use the tools at their disposal to save lives. A piece of paper might be all that stands between rare disease patients’ lives and the research pool NIH has to draw from.
So what’s the solution?
We are pushing to create a National Emergency Treatment Database for Chronically Ill and Rare Disease Patients that would help emergency physicians access treatment protocols for the 30 million Americans who live with a rare disease.
EMS could have a quick access to show limited information such as Emergency Treatment Protocols and medications to be able to provide emergency treatment in the field. Patients would identify themselves as registry members via medical bracelets, QR code stickers on their vehicles and driver’s licenses, and local notification of EMS.
Currently, EMS protocols for rare disease patients are handled on a county-by-county, state-by-state basis. This means that there is no continuity of care when a patient travels outside of their home area. A patient can do everything right – carry their emergency meds, wear a medical id, inform their local EMS, even mark their vehicle – but that means nothing if EMS cannot treat due to a lack of protocol. This lack of information means delayed treatment and possible death. There is no reason an EMT should ever stand in the field with medications in hand and watch their patient die because they don’t have a piece of paper permitting them to treat the patient.
Going forward, we might not be able to close the gap between rare disease patients and the rest of the population when it comes to emergency treatments. But we can certainly fill it with the lives we save by establishing a national rare disease database.
I am currently lobbying Congress to establish such a database, but I need help to demonstrate how far-reaching the lack of protocols really is. Beginning August 1st, and for the next year, I have started wearing a different non-profit organization’s t-shirt every day to represent those affected by rare disease and/or chronic illness. Each day, we will use social media to share info about the disease, organizations that support that patient population, and the beautiful faces of people battling that condition, as well as their stories. At the end of the year, we’ll use those shirts to create a quilt that will be presented to the National Institutes of Health to commemorate our year of awareness.
How can you get involved? Easy. Join us. Check our calendar to see if your chronic or rare disease is currently represented on the #Wear4Rare calendar. If it’s not, book a slot. If it is, please email us at [email protected]. We want to tell your story! We would also love to add more non-profit organizations to our Database Coalition – please join us. Together we can shed light on this gap and we can close it with the lives we save.
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Lead photo source: Thinkstock Images