Ian Stedman (CORD), Ron Laxer (The Hospital for Sick Children)

Canadian Expert Pa.ents in Health Technology Conference

Ronald M. Laxer Ian Stedman

November 7, 2016

Objec.ves

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

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

Advocacy

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

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

The Blind Man and the Elephant

One family with FCAS

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

Access

h2p://www.dic8onary.com/browse/access?s=t November 6 2016

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

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


Making the Diagnosis

Treatment

Research

Advocacy

Teach


•  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

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

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!

Healthcare

Ian Stedman (CORD), Ron Laxer (The Hospital for Sick Children)