Originally Posted by Jason'sDad

My name is Jason Henning and I am reaching out to anyone after much research online and many unanswered questions. I was hoping you can take a few minutes, read my message, and point me in the right direction. Any help would be greatly appreciated as my heart hurts watching my son go through these issues.
My 15 year old son, Jason II has been having issues with is hands for about a year now. I first nofticed when I told him to grab my arm one day and his grip was non-existent. After some probing, he told me that he could barely take notes in school anymore and that his hands freeze up and hurt (not sure why he didn't tell me when it started but he is 15..)*

Symptoms & diagnosis:

Once he closes his hands, it takes 3-5 seconds for them to re-open. The pain seems to be along the muscles that go from the middle of the hand to the web of his fingers. When he repetitively opens and closes his hand as quickly as he can he said it tightens & feels very weird all the way up his arm. So far he hasn't noticed issues with other parts of his body except his legs while taking stairs. He has a lot of pain when writing, playing drums, video games etc. so it's all been limited but unlike a muscle strain, it doesn't get better after prolonged resting. The pain has gotten worse over time which is our biggest concern. He is an amazing kid, an excelling 9th grade Honors student and an aspiring artist & musician. He is a drummer and draws/paints very well & very often so his hands are obviously important.*They have already ruled out arthritis and similar issues after x-rays, blood work etc.

They believed it to be Paramyotonia Congenita & this made some sense because as I said it gets worse with repeated use. The SCN4a genetic test results were ok though from what I can see after receiving his DNA testing. Tests were inconclusive due to an unknown variant in the CLCN1 gene. The unknown is 680t to 227a. It does show a known myotonia congenita defect CLCN1 variant 1453a to 485g. Forgive me if I wrote this incorrectly but I am new to this. I find it odd that he doesn't have the warm up effect but I assume it's due to the unknown variant?? Our neurologist didn't know what to make of this and said we will need to see the geneticist. We have an appointment but it isn't until July unfortunately. Being a real estate agent, this is like another language to me but I'm doing my best to research as much as I can. ...