August is Autoinflammatory Awareness Month!

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Updated 7/29/20

The Autoinflammatory Alliance declared August to be Autoinflammatory Awareness Month in 2015. This is the month that autoinflammatory organizations and patients with any of the autoinflammatory/periodic fever syndromes, such as PFAPA, CRMO, CAPS, HIDS, FMF, TRAPS, USAID, and others around the world can work together to fundraise for research and education and bring more awareness to these very rare diseases.

Why August? August is generally the hottest month for many regions in the Northern Hemisphere. So it seems a perfect month to raise awareness about these syndromes that cause intense systemic inflammation and for many very high fevers that may rival the high temperatures in your area.

Disease awareness months lead to an increase in patients getting a proper diagnosis and treatment, help raise funds for research, and offer support and community for patients. We want International Autoinflammatory Awareness Month to be all of these things, but we need your help. Keep reading to learn what you can do.

Visit our official International Autoinflammatory Awareness Month website and follow the dedicated Facebook and Twitter pages to learn more, find events around the world, and get involved! 

Our Mission

The Autoinflammatory Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases.

What Can You Do?

Fundraise for Autoinflammatory Education and Research

Donations support the efforts of the Autoinflammatory Alliance to increase awareness and education on these diseases, help patients get a proper diagnosis sooner, and raise funds for research. Some of our efforts include this blog and other websites, the development and maintaining of the Autoinflammatory Database that is free for doctors to use, and attendance at rheumatology and autonflammatory conferences around the world.

Click here to learn more about our history.

Support the Autoinflammatory Alliance and you will help:

  • Fund more research-the more we raise, the more we can accelerate new discoveries and help for patients
  • Increase awareness in the United States and internationally about autoinflammatory diseases
  • Produce more educational materials in print and digitally for patients and medical professionals
  • Translate educational materials into more languages
  • Keep the Autoinflammatory Database updated
  • Maintain and update our saidsupport.org blog and the Autoinflammatory.org website.
  • Fund attendance at medical conferences around the world.
  • Fund future autoinflammatory and immune dysregulation symposiums.

More About How Your Support Helps Fulfill Our Mission

2016 Autoinflammatory Symposium

In 2016 we supported and helped coordinate the 1st Symposium of Autoinflammation and Immmune-dysregulation held at Walter Reed National Military Medical Center and in collaboration with the National Institutes of Health was just one of the many Autoinflammatory Alliance 2016 highlights. Read more of what we accomplished in 2016 here

In 2019 the Autoinflammatory Alliance co-sponsored and was a major funder and coordinator of the internationally attended 2nd NIH-WRNMMC Symposium on Autoinflammatory & Immunedysregulatory Diseases which brought researchers and doctors together to address unmet needs for the care and treatment of autoinflammatory diseases. The week’s events included a medical symposium, disease focused working groups, and a patient and family education day.

Dr. Fauci, Director of the National Institute of Allergy and Infectious Diseases (NIAID), opened the symposium which included autoinflammatory/immune dysregulation experts from around the world speaking on genetics, treatments, biomarkers, new diseases such as HA20, and so much more.

The medical symposium addressed important research and new information on autoinflammation and immunedysregulation to help train doctors on these diseases. The medical symposium was also open to patients.

2019 Patient and Family Education Day

Following the symposium, the Patient and Family Education Day was a fully packed day of adults getting a crash course in all things autoinflammatory while the kids played games, painted, and made new friends. Click here to see videos of the patient day.

Autoinflammatory Alliance President Karen Durrant spoke at the closing of the 2019 NIH-WRNMMC Symposium on Autoinflammatory & Immunedysregulatory Diseases. You can see her speak at 8:16:30 in the video above.

One of the main goals of the program was to form a network of clinics and experts from North and South America, and guidelines for care, treatment and how to manage complex cases for a number of autoinflammatory diseases, which your donations can help fund.

Our booth at the 2019 American Academy of Allergy Asthma & Immunology Conference

When not cancelled due to a pandemic, the Autoinflammatory Alliance regularly attends rheumatology and immunology medical conferences and meetings. This gives us a chance to talk directly with doctors and researchers around the world to share experience and knowledge. Our booths at these conferences where we provide free educational materials to medical professions is always very popular and very busy with hundreds of doctors stopping by daily. Your donations can help us continue to attend these conferences.

Donate to the Autoinflammatory Alliance Here

Strawberry Ice Cream Cone

Coordinate a Beat the Heat of Autoinflammatory Diseases fundraiser with your local ice cream shop – raise money and educate while beating the summer heat with ice cream!

Here are some fundraising ideas:

*These are ideas from past fundraisers. During the pandemic we encourage all fundraising to be virtual.

In 2015 the governor of West Virginia proclaimed August Autoinflammatory Awareness Month.

Get a Governor’s Proclamation

We want each state to recognize August as Autoinflammatory Awareness Month. To meet this goal, we invite anyone to contact their state governor to request they issue a Governor’s Proclamation. You can do this as an individual or if you live in a region with several other families, make a bigger impact by working together and contacting your governor as a group. And please share with us your efforts! You can give us updates on our Facebook page here.

Currently the states of Texas, South Carolina, and West Virginia recognize August as Autoinflammatory Awareness month.

Initiating Governor’s Proclamation

  1. Combine the cover letter, sample proclamation, and any other necessary materials into a sealed envelope. Click here for a PDF of a sample proclamation and cover letter you can use.
  2. Send your request to the address provided in the State Governor’s Contact list. U.S. mail should be used unless another form of communication (fax, e-mail, etc) is mentioned in your state/territory guidelines.
  3. Make a follow-up call to the governor’s office if you receive no information within 2-3 weeks of sending your request.
  4. Seek publicity after the governor approves the proclamation. It is great to have a state adopt the proclamation; it is even better to have the local newspaper report the action. Send a representative to the meeting when the proclamation is being adopted. Frequently, the governor’s office will present a quality copy to an appropriate recipient. Take photos.
  5. Be sure to send a follow-up thank you to the governor for the proclamation.

Become an Advocate

In August, all the legislators return to their hometowns for a few weeks. You can set up an appointment to meet with your elected officials when they are in your area, and this is a very good way to start advocating for issues that concern our community.

You can contact your elected officials through this great system with the Rare Disease Legislative Associates (RDLA) to email them about issues that concern you.

Keep checking for more updates here and on our Facebook page. We will post events and more ways you can get involved.

Autoinflammatory Awareness Month is AugustRaise Awareness and Educate Others on Social Media

Sharing information on Facebook, Twitter, Instagram, and other social media sites and holding fundraisers for the Autoinflammatory Alliance are some more ideas of how you can help.

Be sure to use the autoinflammatory hashtags:

#autoinflammatory #autoinflammatoryawareness

#autoinflammatoryalliance #notjustafever

#morethanafever #hope4said #august4autoinflammatory

Don’t forget to link back to our Facebook page here or our Twitter page here!

Autoinflammatory Awareness graphics on this page may be downloaded to use for awareness efforts on social media, blogs, and websites. The graphic may not be altered without written permission. We ask that if used on a blog or website that a link be included to one of our websites or Facebook page.

Awareness_1

Use this graphic for your social media profile picture!

 

Graphic credit: PythonKitten

 

Graphic Credit: PythonKitten

 

Graphic Credit: PythonKitten

Click here to add this International Autoiflammatory Awareness Twibbon to your Facebook or Twitter profile.

Click here for more ideas on how you can help the Autoinflammatory Alliance at any time of the year.

The Autoinflammatory Alliance is a nonprofit organization dedicated to helping those with autoinflammatory diseases.

Donate now to help with awareness, education, and research for these rare diseases.

Donate Now

List of Cryopryin-associated Periodic Syndromes Research and Information

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caps guidebook

CAPS Guidebook produced by the Autoinflammatory Alliance. Click here to open.

Cryopryin-associated periodic syndromes include familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). Below are some links to studies and other informative resources on these fever syndromes. This is not an all-inclusive list. For more research studies, search PubMed.gov.

Detailed information on FCAS, MWS, and NOMID can be found here at the Autoinflammatory Alliance website. Diagnosing, genetics, symptoms, and treatments are discussed at length.

Cryopyrin-Associated Periodic Syndromes (CAPS) Guidebook – You can download a PDF of this highly informative guidebook with photos of rashes here. This book was written by Karen Durrant, RN and Autoinflammatory Alliance founder and president and Dr. Raphaela Goldbach-Mansky MD MHS–U.S. Federal Liaison to The Autoinflammatory Alliance, Dr. Hal Hoffman, Dr. Kieron Leslie, and Dr. Ben Rubin.

American College of Rheumatology: Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) – This is an easy to understand overview of CAPS. It’s especially good for sharing with family and friends to help explain yours or your child’s condition.

Cryopyrin-Associated Periodic Syndromes: Difficult to Recognize, Diagnose, Treat – Cases studies and details of the symptoms, pathogenesis, diagnosing, and treatment of the different CAPS diseases.

Some highlights from this study:

  • “The most important issue is that existing damage is usually not reversible; thus, diagnosis and initiation of treatment need to be prior to development of damage. IL-1 inhibition improves existing hearing loss in only ~20–33% of patients and not after deafness has already occurred.14 Treatment usually prevents further hearing deterioration.”
  • “In many patients, the dose and frequency of IL-1 inhibition therapy need adjustment over time, particularly in children and in those with a more severe phenotype. Anakinra can be increased up to 8–9 mg/kg/day and canakinumab to 600 mg (in children ≤40 kg, 8 mg/kg) every four weeks.31,33,35 Other patients may need less frequent administration of canakinumab.”

Canakinumab treat-to target strategies increase complete response rate in CAPS – Real-life effectiveness of canakinumab in CAPS was significantly lower than in controlled trials. Treat-to-target strategies may improve the outcome of children and adults living with CAPS.

NOMID Nomad – A Journey with Neonatal Onset Multisystem Inflammatory Disease – Follow the journey of Martha who was born with NOMID before it had a name or treatment.

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes – “Our evidence suggests that CAPS may occasionally be presented as a late-onset, recurrent inflammatory disease without urticarial-like rash. In some patients, AA amyloidosis in strange locations like urinary bladder may complicate the clinical course.”

A New Syndrome in the Spectrum of Cryopyrin-Associated Periodic Syndromes (CAPS) Caused By the Novel R918Q NLRP3 Mutation – The rare R918Q mutation found on exon 7 causes a new CAPS syndrome that involves hearing loss and muscle weakness. Patients improved on anakinra.

Papillary edema in Muckle-Wells syndrome

Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians – This is a comprehensive overview of CAPS symptoms, treatments, and long-term prognosis. It give detailed information on how Ilaris works in CAPS patients and dosing needed to control CAPs symptoms.

Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry – This study evaluates the disease progression, including age of onset and severity based on the specific mutation.

Cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 mutation. – “These data document the possibility of myeloid-restricted somatic mosaicism in the pathogenesis of CAPS, underscoring the emerging role of massively-parallel sequencing in clinical diagnosis.”

Brief Report: Anakinra Use During Pregnancy in Patients With Cryopyrin-Associated Periodic Syndromes 

Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation – This is a case report of two Indian brothers diagnosed with MWS later in life. From the study, “In our family, the onset of the disease and symptomatology favor a diagnosis of MWS. The two patients also exhibited overlapping features with FCAS as shown by exacerbation of symptoms upon exposure to cold and NOMID like papilledema, chronic aseptic meningitis, and headache. The proband’s father had died of chronic kidney disease. Though he had no aforementioned features of MWS, his renal disease may have been due to amyloidosis secondary to MWS.”

Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations – This study looked at patients with the variant CAPS mutations V198M and Q703K. They found a high rate of multiple sclerosis (MS) diagnosed in their study population along with other neurologic symptoms such as migrains. Also noted, Il-6 was high in some patients.

Some more info from this study:

“Nine of our 17 mutation-positive patients had a diagnosis of MS. Possibly coincident MS and CAPS has only been described in very few cases and it has been questioned whether MS-like lesions on brain MRI represent CAPS-related CNS manifestations or subclinical MS in CAPS.22,23 Our patients clearly fulfilled the diagnostic criteria for MS and additionally had systemic CAPS-associated symptoms, strongly suggesting concomitant MS and CAPS. However, it can be difficult to distinguish MS and coexisting CAPS from CAPS with CNS manifestations, as both conditions show episodic exacerbations and promptly respond to GC therapy, particularly in patients with optic nerve involvement or cerebral vasculitis, as shown in 4 of our patients. CAPS in patients with MS should be considered in individuals with additional unexplained recurrent symptoms such as myalgia/arthralgias, urticarial rash, uveitis/conjunctivitis, and severe headache syndromes.”

“Our observations expand the spectrum of neurologic manifestations in patients carrying the low-penetrance cryopyrin/NLRP3 mutations V198M and Q703K. Undoubtedly, prompt CAPS diagnosis and treatment is of great importance. However, this is a challenging task in patients who show CAPS-like symptoms but lack classic manifestations of FCAS, MWS, or CINCA and may have concomitant MS. The association of CAPS and MS indicates that the NLRP3 gene may be another immunologically relevant gene locus linking autoimmunity with autoinflammation.”

 

What’s Your Best Day Like? (Despite SJIA)

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novartis your best day photo graphic

Click on the graphic for more info. To submit photos to the Picture Your Best Day campaign, send your photo and caption to pictureyourbestday@voices-of-inspiration.com

In honor of May being National Arthritis Awareness Month, we are focusing this blog post on a rare autoinflammatory arthritis, systemic-onset juvenile idiopathic arthritis (SJIA), which is also referred to as Still’s disease.

We have invited Becky Milne, whose 13-year-old daughter Maren has been living with SJIA since 2001, to talk about her family’s experience with SJIA and introduce a new program from Novartis Pharmaceuticals Corporation (Novartis) intended to help raise awareness of SJIA and build connections between families living with its challenges.

“Picture Your Best Day” invites families living with SJIA to submit a photo of what a good day looks like for their family, to serve as an inspiration to other families who are living with the disease, and to remind them to cherish the good days, in order to help sustain through the tough ones. 

Picture Your Best Day by Becky Miline

I’ve heard many stories over the years about the bad days of systemic juvenile idiopathic arthritis. Maren and I have many of our own. When dealing with a chronic disorder like SJIA, “best days” can be few and far between. Or can they? We actually have a long list of best days. When too many days are bad, even the smallest triumphs become cause for celebration.

Our best days have been the day Maren could finally hold her newborn brother without her wrists, shoulders, and elbows giving out and just last year, her joints finally allowed her to learn to ride a bike at the age of 12. My personal favorite day was when she finally started walking again just before she turned 2.

sojia picture your best dayWhen Maren was able to ride the ATV by herself for a few laps before having to give her hands and wrists a break was a big best day. She was able to feel the joy and freedom. That’s cause for celebrating!

These are some obvious best days, but what about less obvious ones? Some best days when living with SJIA may come as a surprise to some people.

The best day during her toddler years was her day of diagnosis, because it ended 10 months of wondering what was going on in her body. It gave us answers, and led to a treatment. When Maren was 2, she finally just sat down and let me give her a shot without fighting about it.

Another notable moment was the time Maren had the biggest, proudest smile beaming from her little face when she said she didn’t want a Child Life Specialist to come and sit with her before a needle stick.

Once she started school, best days were when she could squat and stand back up again without assistance, or when she could get out of bed without using her dogs for a boost up. Completing a school assignment without me having to write it out for her brought out our happy dance.

Our best days also happen when Maren changes medications, if one stops working for her, because that means that there are still some treatment options available.

Best days of homeschooling for Maren allowed us to balance her fatigue and lack of mobility with her studies. Maren’s return to public school was a best day because she was excited that she could physically keep up, for the most part, with her friends and classmates.

Your best days might not look like ours, or maybe they do. Maybe your best day is that a heating pad helps soothe the pain or the ice pack allows your child to move a joint. Maybe your best day is when you didn’t have the attendance clerk sigh noticeably when you called your baby in sick.

It could be when your child can finally turn a doorknob, button a shirt, or when the morning stiffness only lasts 30 minutes instead of 45 minutes. My hope is that each of you will see the “best day” and celebrate the moment, no matter how insignificant it may seem. When coping with a chronic disorder, the bad days will get us down, making those best days all the more significant. One day we will all celebrate The Best Day….. the day of the cure.

 

If you are a parent or caregiver or a child living with SJIA, and want to participate in Picture Your Best Day, click here, and learn how you can share a photo of a good day that your family has experienced. Together, we can help raise awareness, and help provide hope and inspiration to other families who are living with the challenges of SJIA.

Your support helps us to keep spreading awareness and helping more patients of all ages! Please consider a donation today to the Autoinflammatory Alliance–a 501(c)(3) non-profit charity for all autoinflammatory diseases. Click here to donate. Thank you!