The following was written by Janine Vasquez, mom and wife to a variant CAPS (cryopyrin associated periodic syndromes) crew.
Most parents look forward to the day their child no longer has to use a stroller or need a diaper bag full of supplies. For many parents of children with autoinflammatory diseases, this milestone leaves us having to ask what will happen the next time our child has joint pain, or how will we keep their injectable medicines cool on a trip down to visit family?
We have three children, and all three unfortunately inherited the same disease. We were thrilled to finally get an answer after 10+ years of searching, but that answer has led us to more questions. As our children’s fevers became less severe, other symptoms started to show up. They once went from never getting sick to catching multiple colds, and unfortunately these viruses would trigger their disease flares.
With our youngest on the verge of turning 6, and our oldest almost 13, we had felt our days of using an umbrella stroller were over. The problem was in January, our children caught a virus, and while they were able to fight if off easily, their disease flares became more of a challenge. When you have two children having daily low grade fevers for 6+ weeks, it becomes hard to live your life.
We started out slowly with the idea of a wheelchair. One day, when my youngest was crying about his knees, we decided to try out a store wheelchair. It was a way to try one out with the commitment. The difference was amazing; the trip so much less stressful! We thought to ourselves, “Why had we never done this before?” The reason was clear though, because you had to admit your kids might actually need it, which is never easy.
We eventually eased into using a store wheelchair when needed, but we found that most places only had the electric ones (not good for kids), or the push wheelchair was missing pieces or just dirty.
This wheelchair is lightweight, folds up easily, and you can buy it on Amazon.
After another mom mentioned the idea of needing a lightweight folding wheelchair to help with her child’s stamina, I finally made the leap to looking for one on Amazon. It still took me a week of tossing and turning, but finally one day I hit click and then we were the owners of a Drive transport chair!
Let me tell you, it’s the best decision we have ever made.This chair has allowed us more freedom, and less stress. We went with a transport chair over a conventional wheelchair as they are lighter, cheaper, and fold easily. Ours is a 19-inch, which is wider than usual, but it helps fit two kids at a time.
Our big test came in June, when we ventured to Disneyland for our anniversary. The chair allowed us to have a great time, and for the kids to save their energy to have fun. Our daughter became overheated, so we were able to have her sit and cool off with her cooling vest while we continued to walk to the next area of the park. The chair fits through doorways and the lines at Disney. It also is beyond easy to steer, even with two kids sitting in it. The chair also fits a large diaper bag on the back to store your medications, thermometer, ice packs, or other items you may need on hand.
One unexpected positive result to using a wheelchair/transport chair is that is makes your child’s illness go from invisible to visible. One of the biggest issues with these diseases is that our children look like everyone else and often people only see your child on a good day. People don’t realize your child will have a 105º fever the next day from the activities of today, or they might have a headache due to intracranial pressure, and you can’t see joint pain. We found that with the wheelchair people were more kind and understanding.
We are very happy that we finally broke down and bought the wheelchair. It has given us more freedom than we expected without being cumbersome and we’d highly recommend the Drive chair if you are looking for something lightweight and foldable.
Autoinflammatory diseases are rare, and many have been only recently been discovered in the past decade. Rare and new means many doctors have not learned about these diseases, and many patients can go undiagnosed, or misdiagnosed for years, without beneficial treatment that could help them greatly. Some of these diseases have severe, systemic damage that can develop in various organs, if left untreated. The most severe forms of these diseases can be fatal-sometimes in early childhood or later, if left untreated.
Earlier diagnosis and treatment can greatly improve, and often change lives for the better.
The good news is that many of these autoinflammatory diseases do have treatments available. There is a lot of hope that if we can help people get diagnosed and onto treatment, that they feel better, and be healthier. To raise awareness and education about autonflammatory diseases, the Autoinflammatory Alliance maintains several educational websites including this blog and the free online Autoinflammatory Database that doctors use to help diagnosis patients, attends rheumatology and autoinflammatory conferences in the U.S. and around the world, and helps hundreds of patients directly every year with concerns related to access to care and effective treatment.
To make a difference and help more patients, we really need your help!
What do I need to do for a “Virtual 5K Your Way” fundraiser for the Autoinflammatory Alliance?
This is a fun, easy, and creative fundraiser that you can do anytime, anywhere, and however you want to help raise money in honor of all the brave and amazing patients that face a lot of pain and challenges from their autoinflammatory disease daily.
1. Find a sport or activity that you like, and set up your own team, or support our main “Virtual 5K Your Way” fundraiser. You can run, walk, bike, skip, dance, swim, skate, rock climb, surf, or anything you like to do, and collect donations for your event.
If you don’t want to do a sport for the fundraiser, you can have a board game, craft, or puzzle-making marathon, or just get friends and families to donate your cause. You do not have to host an event–but if you want to, that is great!
2. Share your photos with us of what you do–the more creative, the better! We would like to feature some of your amazing efforts to inspire others. We have a facebook event page where you can share what you are doing.
Top Virtual 5k Your Way fundraisers will win prizes!
4. Earn great prizes for your donation, or for your fundraising team efforts! We have a number of recognition prizes, and something for everyone that donates $25 or more. You can view the prizes for each donation level on our “Virtual 5K Your Way” page. All donations are tax deductible in the US. Our IRS EIN is 20-4915307.
5. If you are planning an event (in August, or anytime) and want to have information, awareness bracelets, or other items for your fundraiser, please contact us.
6. You can also support some of the teams that are fundraising this month.
Autoinflammatory Disease Awareness Bracelets are available for your event. Order here.
Supporting the Autoinflammatory Alliance means that more funds will be available to:
Increase awareness in the United States and globally about autoinflammatory diseases
Produce more educational materials in print and digitally for patients and medical professionals
Fund more research
Fund patient picnic meet-ups
Translate educational materials into more languages
2016 is the year we need to “go big” on research fundraising-but we need your help!
This year, we want to build a large research fund to help get more autoinflammatory disease research funded, and support more collaborative projects with doctors and medical centers to help more patients. We need to have your support and raise over $100,000 (ideally $200,000) to make a big impact and support more patient-centered research. Remember the ALS Ice Bucket Challenge? They raised over $200 million, but with only $1 million of those funds, they finally were able to find the gene that causes that disease, Imagine what could be done for autoinflammatory diseases with that sort of funding? This is possible with your help.
The Autoinflammatory Alliance is a 501(c)(3) non-profit public charity run by a diverse board of patients and parents dealing with autoinflammatory diseases. The majority of our work is done on a volunteer basis, with low overhead and donated use of technology, internet, phone, and office space so we can use our donations to the fullest possible. We try hard to make every dollar donated go the farthest.
We are already doing big, innovative, and beneficial projects that make an impact, but we could do so much more if we had greater funding.
Our current awareness efforts and materials have made a big global impact: we are a leader in autoinflammatory disease information for doctors and patients worldwide. Our comparative chart of autoinflammatory diseases is the leading teaching guide to medical professionals globally. This has led to many more patients getting diagnosed and onto treatment. However there is a great need for more information, and updated materials, which we are working on, but we need more funds to get these projects done.
We have the largest moderated private patient communities online for autoinflammatory diseases and are in touch with many patients daily that need help with finding specialists in their area and clinical trials for their disease, understanding their medical tests, procedures or genetics, and advocacy and help with access to genetic testing and treatment, and how to manage day-to-day life with an autoinflammatory disease.
In 2014, we hosted patient picnics across the United States. We will have more of these events for families in 2016.
We had a very successful care package program for Rare Disease Day 2015, that brought much needed support to almost 400 children with autoinflammatory diseases during the wintertime when many patients struggle the most with their disease symptoms. Imagine what we can do with more funding!
Patients contact us to request printed materials about these diseases, such as our Healthier Ever After book and program that helps children and their families better manage life with injectable medications. Doctors contact us for these materials as well. These materials cost money to produce and ship, but make a big difference for many patients.
Our Autoinflammatory Disease Database is used by doctors worldwide to help get patients diagnosed faster. Donations help keep this database free and open to the public online.
In 2015, we launched our searchable autoinflammatory disease database, with an updated, interactive comparative chart, hyperlinked references and links to other resources, materials and genetic testing labs. This project has used up most of all of our budgeted database funds, in addition to grants, and we need to raise more money so we can expand it’s features, and get the chart and this search site translated into other languages.
More outreach to doctors, and support for patients will help more people with autoinflammatory diseases to get an earlier diagnosis, and helpful treatment that may change their lives.
If you want to read more about how we help people with autoinflammatory diseases, take a look at our reviews on Great Nonprofits!
Looking for some Autoinflammatory Alliance gear to wear for your event, or anytime? Visit our online cafepress shop.
Here is a video featuring our first patient picnics for autoinflammatory diseases, from 2014. Many of these people had never met someone else in person with an autoinflammatory disease, or their same disease before these picnics. We want to bring more people together like this, and other events to educate, empower and energize our patient community, and also the doctors and caregivers of patients with autoinflammatory diseases, and we need your help. Please support the our fundraiser today! Thank you.
At 6 months old Olivia had spent most of her life in the hospital. But this day was a day to celebrate as she was well enough to go outside for the first time in 4 months!
The following was written by Jill DiStefano, Olivia’s mom. Olivia was the 4th person diagnosed with NLRC4 macrophage activation-like syndrome (NLRC4-MAS), a type of periodic fever syndrome.
This is Olivia’s story and how we came to find out about her NLRC4 mutation.
Olivia is only the 4th person to be diagnosed with NLRC4-MAS, and there is still much to learn. I wanted to share her story, in the hope that it will help others to get diagnosed and start treatment as soon as possible.
Olivia was born on January 26, 2015, two days before her due date. It was an uncomplicated delivery and she had a healthy weight at 7 lbs. She was “healthy” until approximately seven weeks old, when I noticed she started coughing and had occasional sneezing, but I just thought she was coming down with a cold.
At 7 weeks old Olivia developed a fever and rash that was diagnosed as parainfluenza, but the fever never went away and the rashes kept returning.
At 7 weeks old she was diagnosed with parainfluenza.
On March 20, 2015, after her night time bath I noticed a rash on her chest–it reminded me of roseola, but she did not have a fever and appeared well. The next day, on the 21st of March she woke up from her afternoon nap with a high fever of about 103º F. I took her to the emergency room and she received the standard “fever work-up.” She still had the rash on her chest. She was congested and coughing and they suspected something respiratory. Her white count was normal, and the chest x-ray also looked fine. Her urine test was also negative for infection. Of note, the ED physician did state that her spleen felt a little enlarged, and ordered an ultrasound. We were told that her spleen was “mildly enlarged,” but that it was “nothing too concerning” and that with viruses, the spleen can get enlarged. Also, her AST and ALT liver enzymes were “slightly elevated,” but again, nothing off the charts. We were sent home with the diagnosis of bronchiolitis/croup. The ED called the next day to let us know that her respiratory panel was positive for parainfluenza (a virus that can cause bronchiolitis).
But the fever never left.
She had a fever every day from March 21st onward, along with having a very “croupy” cough. I was told to expect the symptoms for about a week. On March 31st I called the pediatrician to let her know that her cough had improved but she still continued to have daily fevers– it was strange too, because the fever was every 24 hours, and she would always spike at night. Every day she would be cool earlier in the day, and I would think, “Today is the day no more fever,” and then that night around 1 a.m. she would wake up to nurse and boom–another fever!
I brought her back to the pediatrician on the 31st of March and she was diagnosed with a right ear infection. It made sense to us, because of how bad her croup was presenting daily. She was placed on amoxicillin, but she continued with daily fevers despite the antibiotics. I called back on April 3rd to report the continued daily fevers, and she was switched to Augmentin. On April 4th she woke up at 7 a.m. with a 104ºF fever and did not look well. I took her back to the ER and she was admitted.
She was originally admitted because they were concerned that she could have “atypical Kawasaki’s.”
Oivia was admittied to the hospital for six days for a “fever of unknown origin work-up.” They kept searching for another infection, thinking that maybe she was “just unlucky to get another infection because she is little, has a brother in day care, etc.” The Infectious Diseases specialist was consulted but every test was coming back negative for infection. They did talk about doing an whole body MRI as it was on the algorithm for “fever of unknown origin,” but then her urine test showed “CMV virus.” So we were told, “this was the reason for the fever–she just happened to get another virus.” With that we were discharged, again being told that it was “just a virus” and it had to run its course. We were still finishing up the Augmentin for the ear infection. We were discharged on April 9th. She was still having fevers, but her fevers were “going down” at that point. During this hospital stay her nursing pattern had changed–she would only nurse for a few minutes at a time and she would cry at times after pulling away from the breast. I was told that when babies don’t feel well, they will do shorter more frequent feedings then standard longer ones. Also, since I breastfed, her stools were always “loose,” so at that time I did not know that it was more loose than normal–she was actually having diarrhea.
Who can say no to that face?
On April 11th she developed another rash.
This one looked like hives. She was on day 9 of 10 of the Augmentin, so I thought it would be strange to develop a rash like reaction so late in the antibiotic but when I called the pediatrician I was told to stop the Augumentin and that the hives for were likely from the antibiotic. The rash was gone by the following day on April 12th. During this same time on April 11th she continued to not want to nurse very long ,and she threw up a bottle twice. I also witnessed watery diarrhea happen when I was changing her. If I didn’t witness it, again I might have missed it since her stool is always loose.
On April 13th she woke up very dehydrated and was brought to the ER. During the ER visit, she had a lot of diarrhea and ,she was admitted. Once again they were looking for a virus. Being told “she could of picked up a GI bug.” She also continued to have fevers EVERY day.
The first week of her admission they were chasing an infectious cause.
When nothing was coming up as an infectious cause, and she continued to have diarrhea with nursing issues, plus her abnormal lab values they starting consulting many, many, many specialists. We were told she could have JMML (juvenile myelomonocytic leukemia) or HLH (hemophagocytic lymphohistiocytosis) amongst many other scary diagnosis.
What really led the doctors in a new direction was the whole body MRI (boy do I wish that was done the first time!) Her entire GI tract was inflamed. Also, the MRI noted inflammation in her fascia on all of her limbs, plus fluid in her elbow and knee joints.
Her EGD (esophagogastroduodenoscopy) and colonoscopy showed:
Active gastritis with extensive glandular damage in her stomach
Marked active and chronic duodenitis with extensive crypt loss and epithelial regenerative changes
Severe active and chronic colitis with extensive crypt loss and epithelial regenerative changes
She also had a muscle biopsy that actually DID NOT confirm fasciitis- they think that she was third spacing fluid from her poor nutrition and it was the fluid that look like inflammation on the MRI.
As far as her other abnormalities that led to the doctors suspecting NLRC-4 and sending for genetic testing, they were:
Elevated ferritin
Elevated sIL2
Elevated Triglycerides
Elevated CRP
Elevated immunoglobulin E and M. Of note her immunoglobulin A and G were normal.
Enlarged spleen
Slightly enlarged liver with slightly elevated liver function tests. (Bilirubin was completely normal).
Olivia has had some amazing doctors along the way. She now has a diagnosis and is on treatment. Doctors are now planning for her discharge from the hospital!
Now that we have a diagnosis, we can start treatment.
She was diagnosed with NLRC4-MAS! NLRC4-MAS is a genetic condition she was born with. There are medications that have been helpful in other patients with NLRC4-MAS so we now have hope that Olivia will now get to live a healthy life.
August 2015 Update: It’s been a bumpy road for Olivia since her mom sent us this post. But we are very happy to report that her treatment is working and they are planning to leave the hospital very soon! This is a huge cause for celebration as Olivia is now 6 months old and has spent most of her life in the hospital. We are so happy for Olivia and her family!
The following was written by Janine Vasquez, mom and wife to a variant CAPS (cryopyrin associated periodic syndromes) crew. 
