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Rare Challenges

Receiving the right diagnosis at the right time is crucial when it comes to living with a rare disease. However, for many people with periodic fever syndromes the path to diagnosis can be long and bumpy.

Rare diseases, such as autoinflammatory conditions like SJIA, AOSD and periodic Fever syndromes FMF, TRAPS, HIDS/MKD, CAPS are subject to a lack of general and scientific knowledge and understanding about the diseases.[1] This lack in knowledge and understanding often results in people with rare conditions like periodic fever syndromes feeling stigmatised, isolated, and excluded from their social community.[1]

Receiving the right diagnosis at the right time is crucial when it comes to living with a rare disease, not only in relation to the implications it can have on one’s health, but also on one’s social life and interactions. However, despite the importance of getting the diagnosis right, over 25% of people with rare diseases currently wait 5 to 30 years from when their symptoms began to when they receive an appropriate diagnosis and 40% receive an initial wrong diagnosis.[2] Find out more about the path to diagnosis here:

 

So, what makes it so difficult to diagnose rare diseases like periodic fever syndromes?

  • Similarity in symptoms and lack of exposure: Diagnosis can be challenging because these conditions are rare and many other conditions have symptoms that mimic them which, amongst others, include appendicitis, acute rheumatic fever and drug allergies.[3,4,5] Some doctors may not have come across these diseases before, so may not suspect them for quite some time when undertaking investigations.[3] What makes it even more difficult in the case of periodic fever syndromes is that there is no ‘typical’ picture even with a specific syndrome, the pattern of symptoms and flare-ups can vary considerably from one person to the next.[3]
  • Lack of scientific knowledge: Due to the rarity of diseases such as periodic fever syndromes, there is a lack of incentive for publicly driven research and many general physicians may only have limited, if any, exposure to patients with these conditions.[1,2] As a result the general medical and scientific communities hold minimal scientific knowledge of less than 1,000 of the more ‘well-known’/ frequent rare diseases such as Gaucher disease and Leukaemia [1,2,6,7]
  • Lack of information: Due to the limited level of medical knowledge and exposure, people with rare conditions often find there is not much information available to them about the diseases they are living with. In addition, prior to diagnosis they experience a lack of access to expert knowledge as often they will not be referred to the appropriate specialist immediately.[1,2]

Raising awareness of and educating people on rare diseases is one of the most important things we can do to help people who affected by these conditions to help ensure that they receive the right diagnosis at the right time, as well as the understanding and support that they need.

Periodic Fevers are asking for your help to spread the word about rare autoinflammatory conditions such as periodic fever syndromes and the challenges associated with diagnosing these diseases, by following us on Facebook and Twitter, if you are not already doing so, and sharing the video above with the people around you.

 

References:

1. “Rare Diseases: Understanding this Public Health Priority” 11/14, Eurordis, November 2005: http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf (Accessed May 2016)

2. “The Voice of 12,000 patients - Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe” Eurordis, 2003 - 2006 http://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf (Accessed May 2016)

3. National Amyloidosis Centre. Available from: http://www.amyloidosis.org.uk/fever-syndromes/inherited-fever-syndromes/ (Accessed March 2016)

4. American College of Rheumatology. Familial Mediterranean Fever (Juvenile). Available from: http://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Familial-Mediterranean-Fever-Juvenile (Accessed May 2016)

5. Song, SJ et al. A Case of Adult Onset Still’s Disease Misdiagnosed as Septic Arthritis. Knee Surg Relat Res, Vol. 23, No. 3, Sep. 2011

6. NORD – National Alliance of Rare disorders. Available from http://rarediseases.org/even-well-known-rare-diseases-pose-diagnosis-problems/ (Accessed May 2016)

7. American Cancer society. What are the most common types of childhood cancers? Available from: http://www.cancer.org/cancer/cancerinchildren/detailedguide/cancer-in-children-types-of-childhood-cancers (Accessed May 2016)

Kids Corner

Want to help your child understand their illness ? Why not visit Kids Corner with your child and read Paula and Tim's explanation of autoinflammatory disease and their experience of attending school and after school activities with their condition.

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Kids Corner

March 2016 - GLDEIM/ACZ885/0088