Updates rather promising

[JennaShi]

I think I may finally be moving forward with potentially getting closer to figuring out the main issue or one of them. Got the genetics test results back but only one of the 81 genes showed up and the variant was VGUS: IKBKAP VGUS, p. L 1139. When you look this gene up, one disease shows up called Familial Dysautonomia which is primarily seen in people who have Askenazi Jewish ancestry. fortunately I do not have the variant to even be a carrier, thank goodness!

So.. With that being said, My new neuromuscular specialist has mentioned that she believes my sfpn is due to autoimmune. She brought up my high TPO and I reminded her of my AIAG and UCTD and she said People with UCTD often have sfn issues. I told her more of my symptoms such as the syncope, issues with orthostatic hypertension, heat issues (like a broken thermostat on top and raynauds in my legs, toes, hands, and lips. And she asked me about pain in different areas. She also asked me to bend my thumb, stretch my skin, bend down, put my knees back (I can do all these things) and whether I had a bump on my chest, and a pea fit between my boobs?? I don't get that one but thinks there may connective tissue involvement.

She is referring me to her colleague who specializes in Fibromyalgia ( not sure if this is related or separate to the above tests?) I looked it up and it seems that alot of people who have Lupus and RA also have Fibro and it seems those with Fibro also are seen with chronic fatigue.

My daughter also is very flexible .. so I'm intrigued by her questions.

Maybe she isn't so bad after all and she just need to redo a whole bunch of tests ( what I call back tracking) and I needed to be more persistent with my symptoms and explain them a little more clearly. Atleast we can rule out Cancer, and genetic from what they tested. I am encouraged and hopefully get closer to a more definitive diagnosis.

[stiff19]

I am pleased and glad you are now encouraged and hopeful 👍

Best wishes 🙏

[JennaShi in reply to stiff19]

Thank you 🥂🤗

[CecilyParsley]

Hi Jenna, really good news that some things have been ruled out. It sounds like a positive appointment, hoorah!! Xx

[JennaShi in reply to CecilyParsley]

Thank you, yes, I am grateful too💗👏.

[Yasoo878]

That all sounds positive. I’m new and haven’t followed your journey but am intrigued by the flexibility things you mentioned. I’m mega flexible too and my rheum asked about my knees bending backwards and my thumbs bending backwards etc...I wondered how on earth it could be relevant till I went home and read lots...my wee girls is very flexible too...

This is a steep learning curve.

Glad you’re getting answers xxxx

[JennaShi in reply to Yasoo878]

Isn’t it interesting?

Were you able to get more answers regarding the flexibility?

My daughter is too and wonder if there is somehow a connection.

[Yasoo878 in reply to JennaShi]

No , not yet. This is the very start of my journey and my health is pretty bad just now so I’m really slow. So really want to find out more.

I’m speaking with a friend of a friend whose apparently really knowledgable on the subject today. I’ll share anything I find x

[JennaShi in reply to Yasoo878]

I hope you get some more answers that will benefit you greatly. This seems to be a complicated process (atleast from my experience, as not everything is presenting itself clearly yet). Thank you, that would be wonderful.

[RosieA]

Gosh! Sounds like a thorough consultation, good. Sorry but what is sfpn?

[JennaShi in reply to RosieA]

I agree, and am thankful. No problem, SPFN is Small Fiber Poly neuropathy.

[RosieA]

Thank you. How does that manifest itself? I have suffered dreadfully recently with pain down my shins and believe me I would be delighted if it were shin splints. Have thought about neuropathy but just trying to ignore it and convince myself that leg warmers are all the rage.

[JennaShi in reply to RosieA]

Here are some helpful links. Small fiber neuropathy, from talking to people on here seems to be commonly seen in people with lupus. There are many causes of it but talking to your doctor would be best to find out. Small fibers are in the skin as well as in other organs and they can affect your autonomic system.

medicalnewstoday.com/articl...

corinthianreferencelab.com

[JennaShi in reply to RosieA]

One thing to keep in mind, these are not tested by emg as they are too small. They are tested through a skin punch biopsy.