VARIANT CAPS CREW FUNDS

Hello. We are the variant CAPS CREW.
Charles, Chad, California, and Cruz!!!

Our family found out in 2014 that 4/5 of us have a rare genetic disease. This was after many years of fighting for answers...

(CAPS) Cryopyrin-Associated Autoinflammatory Syndromes are a group of rare genetic diseases caused by mutations on the NLRP3 gene. The mutation that Charlie, Chad, Cali, and Cruz have, is located in an unusual area of the gene, which not only results in an atypical (variant) presentation of the disease, but also makes our case difficult to treat.

Some of the specialist we have seen:
- Infectious disease
-allergy/immunology
-audiology
-dermatology
-otolaryngology
-physical therapy
-occupational therapy
-radiology
-rheumatology
-neurology
-ophthalmology

CAPS affects your entire body, and there is no cure.

Over the years, the stress of living with children who are chronically ill has taken a toll on us emotionally, physically, socially, and financially.

We have the opportunity to travel to the National Institutes of Health (NIH) in Maryland to participate in a clinical trial that will help the doctors better understand our disease, and what role the NLRP3 gene plays in genetic inherited hearing loss. We will be the second family in the world participating in this particular study with this mutation. It will involve sedated MRI w/contrast, hearing tests, blood tests, and a rheumatologic visit.  We are also currently working with our CAPS specialist here at Rady Children's hospital. He has taken additional blood and genetic tests from us, and is working in his own lab to better understand our mutation. This research and our case was recently presented at the ISSAID in Germany. This conference is attended by doctors around the world and is specifically for auto-inflammatory diseases.

While NIH attempts to cover fees for patients participating in a clinical trial, such as lodging, coast to coast travel is still expensive for a family of 5.

Additionally, hearing aids are not fully covered by medical insurance, and this is with our expensive high option plan we pay into biweekly. At this point, unless we can find a way to halt the progression, all 4 of our variant CAPS crew will lose their hearing. Currently, Charlie and Chad are in need of hearing aids, as progression of hearing loss starts in late adolescence.

 We are also facing additional costs of braces for Chad who has an under-developed jaw due to poor growth. Even with additional dental insurance, most of the cost is not covered.

Charlie has always worked hard for our family. A Marine veteran, and current federal firefighter. He often has to work through his own constant pain and stiffness, because our children have had to come first. He has not been able to participate in additonal opportunites over the years due to the health of our children, and I have never been able to go back to work. Our lives have been consumed by this disease for many years.

*Learn more about CAPS with this infographic*

We are also very active in the rare disease community. We currently run a page (The Flying Lifeguards) on Facebook where we have a birthday club for children with autoinflammatory diseases, and also recently raised funds to make 'activity bags' for children who attend the Fever Clinic at our local hospital.

The variant CAPS CREW