Thanks for finding this site! I am very glad to hear that your son is responding well to the canakinumab. GOSH is a wonderful facility, and I am in touch with many patients that are going there, or other hospitals in the UK that have CAPS or other autoinflammatory diseases. If you would like to connect with them, let me know with a private email at email@example.com or through our website at www.nomidalliance.org
I wanted to tell you that there are small, but growing number of cases of variant CAPS, and some families that have a mutation that can cause CAPS symptoms in some members, but some can have the gene mutation, and not show symptoms. Many have the V200M mutation, but some have other mutations. I am in touch with many with these forms of "variant CAPS"and can help you get connected with other patients that have this in their family. Most CAPS does not present this way, but there are some unusual presentations, like Alan had, and we are really at the tip of the iceberg on understanding all the genetics right now.
Here is a helpful article about some people in the UK and elsewhere that had some members in a family with the gene, that showed symptoms, and some that had the mutation without symptoms.
Here is the main info that you might find interesting:
"In contrast, V200M, which was present in all subjects with MWS in family C but also in the unaffected grandfather (Figure 4), has also been associated with FCU susceptibility (12). The V200M variant was present in 1 of 130 Caucasian controls and 2 of 48 Indian controls and was also identified in 2 cases among a group of 50 subjects with apparently sporadic periodic inflammatory disorders. Review of these 2 subjects, both of whom had periodic fever, revealed that the clinical features bore some resemblance to those of MWS and FCU/FCAS, although the resemblance was not sufficient to make a diagnosis by clinical criteria. The first patient had limb pains with atypical rash, and the other had urticarial/edematous-appearing skin lesions with histologic findings showing a predominantly polymorphonuclear leukocytic infiltrate consistent with FCU/FCAS, but no sensitivity to cold. "
Some people that have the mutation that do not present with full CAPS have had selective symptoms or atypical ones. It is good that you are not having any Mitch!
Let me know if there is anything we can do to help you to get connected with others in the UK, or if you need information. Since 2006 The NOMID Alliance is dedicated to increasing awarenes, care and treatment for patients with CAPS and other autoinflammatory diseases.We have a lot of resources online at our website, to print out,or to have mailed to you to help. There are also some helpful patient groups that you can find in the Connect area of our website at: http://www.nomidalliance.org/connect_links.php
The NOMID Alliance