There is a certain quality about the experience of living with a Rare Disease: a bit of an oxymoron in its character. By definition, a Rare Disease patient is one whose disease is found in less than 200 000 Americans (or about 1 in 1500) at any time. For those in Europe, the definition is similar at 1 in 2000 people, https://www.rarediseaseday.org/article/what-is-a-rare-disease. For those of us with any one specific disease entity, indeed we are a rare bunch. The spinal cord disease that we deal with, Arachnoiditis/ Adhesive Arachnoiditis, falls under this definition.
Paradoxically, when Rare Disease patients are gathered together, we are actually not that rare at all! An estimated 350 million people globally are diagnosed with one of the over 6000 known types of Rare Disease. For a list of all types recognized in EU, see https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/.
So, while each disease entity has its own unique symptoms, causes, treatments and such, the overall experience and challenges of living with a Rare Disease are similar.
If you are interested in learning more, see our #RareDiseaseDay 2022 presentation on our YouTube channel https://youtu.be/1mQPkvQKNv4
Those of us with Rare Disease have a whole lot of things in common!
Long Delays in Diagnosis: The average length between symptom onset and proper diagnosis is 4.8 years! Patients see an average of 7.3 physicians before accurate diagnosis is made. (https://www.shire.com/-/media/shire/shireglobal/shirecom/pdffiles/patient/shire-diagnosis-initiative-pag-leaflet.pdf)
Dealing with Stigma of Physician Disbelief: Many physicians, with their limited training and exposure to Rare Disease, become frustrated in their search and begin to openly express disbelief in symptom reporting, often looking for mental health issues to explain what is a primarily physiologic/genetic disorder. Families and patients become discouraged, and physicians often become frustrated with damage to the patient-doctor relationship. "....the absence of proof is not the proof of absence."
Physician education, training, research, industry challenges: because very little is known about each of these rare diseases, each of these entities have only a handful of trained experts in the world. And even for those experts, the paucity of clinical research, evidence-based protocols and other such issues challenges their ability to provide any treatments or suggestions for these patients. Most of our care is made up of trial and error. Because there are so few experts in any one of these rare diseases, patients and their families must travel long distances at great expense to get care.
Research into incidence, mechanisms, treatments and so on iis difficult due to geographical constraints and scattering of patients worldwide: Up until just a few short years ago, research opportunities were very limited for rare diseases. But recent technological advances in big data, social media, biometrics and more have made it possible now to overcome some of the past obstacles. Bio Registries, online patient advocacy groups, video conferencing, big data advances are beginning to overcome the financial and logistical challenges to Rare Disease Research in the past.
Rare barometer* is an interesting project by EURORDIS, capturing the experiences of those who live with rare diseases through suveys and other project tools in an attempt to capture the experiences and opinions of people like us. Our recent Rare Disease Day presentation included some of their findings as it relates to the experiences of having a rare disease and accessing healthcare. You can see the slides in our presentation here; https://youtu.be/1mQPkvQKNv4
But some will say, and are likely correct, that Arachnoiditis is not truly rare. Fact is, until we do the studies to determine incidence and prevalence, we won't know. But one confounding factor is that so few are diagnosed, even when their images (usually MRI with contrast) obviously include images of Arachnoiditis; either clumped nerves or empty sac (no visible nerves) on axial MRI, thickened and misshapen nerve roots and CSF dilation on sagittal views. Yet a recent study* indicated that 3 out of 5 radiologists were unable to diagnose Arachnoiditis, with only 2 in 5, the most senior radiologists providing the correct diagnosis. Given that 60% of radiologists in that study missed Arachnoiditis, it would seem that it may be rare mostly because it's rarely diagnosed.
What can we do, then? We can go far by sticking together as one community; by creating the opportunities for clinical research, fundraising for studies and participating in our community - led research. We can support each other in patient groups and peer support meetings. We can all throw ourselves into educating our healthcare providers, sharing resources available for educating yourself and sharing our professional resources with your doctors.
Finally, we can raise awareness in creative ways. Do you play online games? Create a team called Arachnoiditis Rare Disease, and in the description link our website and add a few words about supporting Arachnoiditis patients worldwide. Or perhaps you have a med school close to you; send the Department of Medicine or its Library a copy of our Educational professional resources, including the latest Tennant Foundation book on reading MRIs for Arachnoiditis. Hold fundraisers and ask for donations to Arachnoiditis Research rather than receive gifts. Join our newsletter, participate in our research survey; the opportunities are endless.
Together we are many! Together we are strong!
In the spirit of Rare Disease Awareness month,
Lori
© Lori Verton
ACMCRN
March 2022.