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Canadian Expert Pa.ents in Health Technology Conference
Ronald M. Laxer Ian Stedman
November 7, 2016
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Objec.ves
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Autoinflammatory diseases
• A new category of disorders related to abnormal ac.va.on of the immune system
• Individually extremely rare, but new diseases being described every few months
• Associated with gene muta.ons therefore run in families
• Signs and symptoms can look like many different disorders involving mul.ple systems
• Significant morbidity, long term complica.ons and even mortality
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Cryopyrin associated periodic syndromes: CAPS
NOMID: Neonatal-‐onset mul.system inflammatory disease; CINCA: chronic infan.le neurological cutaneous and ar.cular syndrome Image copyright: FCAS and MWS: HJ Lachmann; NOMID/CINCA: Club Rhuma.smes et Inflamma.ons. Available at hZp://www.cri-‐net.com/base_image/display_rub.asp?rub=periodique (Accessed 5 May 2009)
Familial cold autoinflammatory syndrome (FCAS)
• Autosomal dominant • Cold-‐induced
– Ur.carial rash – Arthralgia – Conjunc.vi.s
Muckle–Wells syndrome (MWS)
• Autosomal dominant • Ur.carial rash • Sensorineural deafness • AA amyloidosis (in 25% of pa.ents) leading to renal failure
NOMID/CINCA • Progressive chronic meningi.s
• Ur.carial rash • Deafness • Visual and intellectual damage
• Destruc.ve arthri.s
MILD SEVERE
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Advocacy
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Access Dr. Laxer, I am a 32-year old father of a 21 month old girl who appears to have developed an ongoing “rash” that is identical to what I have had for the past 14 years. Until my daughter presented with this issue I never took the time to try to figure out what was wrong with ME. Seeing her with the non-itchy urticaria has caused me to spend the past year reading everything I can and trying to figure out what exactly is going on. I have recently stumbled across Muckle-Wells and it seems to me that I have many of the symptoms of this disease. Since I was a pre-teen I have had arthritis (this lessened in severity as I got older); I suffered from migraines (also lessened in severity as I aged); I have had non-itchy urticaria and bloodshot eyes since I was 17 years old; I learned in 2012 that I have hearing significant hearing loss and I now know that I have fertility issues (an extremely low sperm count). My daughter has had 2 bouts of rather severe arthritic symptoms in her legs; has had the same urticaria on a consistent basis and has had the very occasional bloodshot eye (although pink eye and fevers can be par for the course when a kid is in daycare). I write to you because I am a resident of the GTA and I know not who to turn to in order to seek a diagnosis for myself and my daughter. I realize that you are a paediatric doctor, but are there non-pediatric doctors in the city (or country, for that matter) who deal with CAPS conditions? My daughter’s physician dismisses her rash as being a “what kids get” and does not seem interested in providing me with a referral. Perhaps if I can show that I have MWS it will make it easier to convince others that my daughter should be tested. I have attached pictures of my daughter’s leg and mine, both covered in urticaria. Thank you so much for taking the time to read this email. Respectfully, Email received March 2014
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Typical Pa.ent Flow and Diagnosis for Pa.ents with Autoinflammatory Diseases
Timeline
3 years 4 years 2 years 6 years 7 years 5 years ≥ 8 years 1 year
Most pa.ents have frequent courses of an.bio.cs by age
10
S Internist
Family physician/ Pediatrician
Dermatologist
Nephrologist
Rheumatologist
Ophthalmologist
Neurologist Otolaryngologist
Allergist
GI
Pneumologist PaPent
Urologist
Audiologist
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The Blind Man and the Elephant
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One family with FCAS
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What are pa.ents to do?
• Geing diagnosed – Geing a referral – to who? – Gene.c tes.ng – Other specific tes.ng
• Ongoing follow-‐up • Access to treatment
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Access
h2p://www.dic8onary.com/browse/access?s=t November 6 2016
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Access and Rare Diseases
• Being aware of the diagnos.c possibility – EDUCATE HEALTHCARE PROVIDERS
• Is there someone to refer to? – CENTRES THAT DEVELOP EXPERTISE
• Knowing who to refer to – DEFINING REFERRAL PATTERNS
• Prepared to make a referral – COMFORT OF PRIMARY CARE PROVIDERS, RECOGNITION THAT
SOMETHING CAN BE DONE • Undertaking diagnos.c tes.ng – accessing gene.c tes.ng
– MAKING IT EASY TO OBTAIN • Access to treatment
– INDUSTRY, INSURANCE, GOVERNMENT FUNDING
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Centres of excellence for CAPS and other autoinflammatory diseases
• Ability to assess, inves.gate, diagnose and manage pa.ents with autoinflammatory diseases
• Knowledge of appropriate treatments and how to access them
• Develop teaching tools • Play an advocacy role – promote existence of the centre
– Lead the development of a provincial registry – Access to medica.ons
• Lead and collaborate in research ac.vi.es
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Centres of excellence for CAPS and other autoinflammatory diseases
Making the Diagnosis
Treatment
Research
Advocacy
Teach
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Centres of excellence for CAPS and other autoinflammatory diseases
• Each medical school / province should have a Centre – Par.cipa.on from Pediatrics and Medicine
• Subspecialists can include Rheumatology, Allergy-‐Immunology, Infec.ous Diseases, Dermatology, Gastroenterology, General Pediatrics/Internal Medicine
– Gene.cist and gene.c counsellor • Develop a na.onal registry
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Family Supports
• Every family has different needs – Accessible informa.on – Care providers – Income – Knowledgeable Physician – Access to medicine – Gene.c and/or psychological counselling – Community – Hope
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Summary
• Autoinflammatory disorders are but one example
• Very small disorder-‐specific communi.es
• Hard to mobilize or to even know what to do if/when mobilized
• Need strong “champions” to provide hope and open doors for advocacy
• Need access to early diagnosis and comprehensive informa.on
• Centres of Excellence are absolutely crucial!
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