Right Cheek Swelling

Thanks @artscaping You were right. I got a call 3 days later. However, looks like Mayo Clinic does not take my insurance, so I won't be able to be seen there for now. I wish you luck with your journey! Thank you for your help!

I would add just a little to my previous statement. I have the same symptoms, and have a sort of prelim dX from several labs, including Sequencing.com, Ambry, LivingDNA, and some others. Now that I have a little more knowledge, I can suggest where to look. First, you appear to have a classic case of cutis laxa, probably from your Gelsolin (also called Finnish Amyloidosis or Meretoja's, or some other stuff.) This Gelsolin is often a partner disease to Limb Girdle Muscular Dystrophy R23, or also using labels of FKTN and/or FKRP. NIH at one time carried a paper that mentioned that Gelsolin and LGMDr23 were either identical or different names for the same disease. There are a number of other disorders that fit nicely into this syndrome. A good whole genome sequencing should help immensely. Also, the Methotrexate you are using has kept me alive for 5-6 years. If you take enough of it (my doc says for me to take .80ml, or about 40% of one of those tiny bottles every Monday morning, first thing. ) it slows down the progression of the disease, but does not stop it. My LGMDr23 and GSN are moving along, but are not stopping. My right face areas are puffing out slowly, and my joints in limbs are swelling, but quite slowly. My heart, kidneys, esophagus, brain are all filled with Actin cancer and other stuff now. But at 82, I am getting along rather well, except for the neuromuscular and joint pain. Remember: Gelsolin and FKTN attack the same weak areas of human cells. Gelsolin makes a mess out of the Actin web for GSN protein purposes in the cells, and this opens the cells up for FKTN LGMDr as well. oldkarl