We need a CURE-help make CACP known

We NEED A CURE, Help make CACP known


Who are we?


Hello! We are parents and healthcare professionals, David and Kari. Our daughter Kinslee was initially diagnosed and treated for juvenile arthritis at age 2 (though we had concerns since several months of age).

After many failed arthritis medications including weekly shots, bi-weekly infusions, and several other oral medications, our very bright and dedicated pediatric
rheumatologist began researching other possibilities. 

We were fortunate for him to refer us to the NIH (National Institute of Health) with some of the most devoted researchers, and genetic testing was performed. Finally we had our answer, CACP. (This summed up version of our story makes it’s sound simpler than it was and some patients we’ve met have gone as long as decade before being properly diagnosed.)

Unfortunately, CACP is rare, there’s not a lot known about the prevalence and progression of the disease, and there is no cure. After feeling a bit hopeless and alone, we decided to take matters in our own hands. 

David initiated contact with CACP researchers and doctors, and Kari set up a Facebook page to begin spreading awareness and start communication with patients and families affected by CACP. Now we have formed a small group of families, doctors, and researchers ready to support the work of growing our patient and family support, spreading the awareness of CACP, and researching possible treatment options. 

But we need your help! To initiate all these wonderful ideas and efforts, we must first raise funds to file as a nonprofit, build our web presence, and apply for IRB approval to start research. Please consider donating and sharing our page, any contribution is greatly appreciated and one step closer to helping manage the pain for those with CACP and other joint related diseases.

What is CACP?


CACP syndrome is a genetic mutation of the protein lubricin which is important for lubrication in the body. This results in multiple complications: Camptodactyly (permanent bending of fingers/toes), Arthropothy (joint disease), Coxa Vara (structural hip deformity), and Pericarditis (fluid accumulation around the heart). CACP is estimated to occur one in 1-2 million. Currently, there is no cure or treatment for CACP with the exception of surgical intervention, physical/occupational therapy, and pain management.

Why is appropriate diagnosis important?


CACP is often first diagnosed or misdiagnosed and treated as Juvenile Idiopathic Arthritis (JIA), leading to ineffective arthritis medications with harmful side effects. Rare diseases like CACP are largely unknown to doctors leading to years of unnecessary injections and infusions as well as under-diagnosis of the rare disease. Obscured, in part, by confusion with JIA there is much to learn about CACP syndrome including its true incidence, symptom characteristics/progression, and potential treatments.

How your donation will help:

Any contribution you make directly supports the initial start-up and operational costs of the CACP Research Foundation as a nonprofit organization.

Estimation of Costs:

1. Filing as a non-profit organization with the State, the IRS, and the Secretary of State for fundraising:
$500-$1,000

2. Website Design: $500

3. Logo Design: $500-$3,000

4. Institutional Review Board (IRB) required for the initiation of research: $5,000-$23,000

Mission of CACP Research Foundation:

Our mission is to shine a light on our rare disease stripes by bringing awareness to CACP Syndrome and supporting research for treatment options of CACP and related joint diseases, including arthritis.

 Commitment of CACP Research Foundation:

Presently obscure and under-diagnosed, we aim to generate awareness for the recognition of CACP and proper diagnosis. We are dedicated in supporting research for successful treatments and cure.


Thank you all so much for your much needed support in this exciting endeavor! We cannot do it without you! We appreciate all contributions! And we also want to thank you for sharing our post to further spread awareness to our cause.