Thread by @JeffMYau

In March, I received a lumbar puncture. This was key to receiving my chronic inflammatory demyelinating polyneuropathy (#cidp ) diagnosis. I'm sharing my experiences in this 🧵to update folx and to help others who may be struggling similarly with #autoimmunedisorder #raredisease

2/ In August 2022, I noticed numbness and tingling in my hands and feet. The stocking-glove pattern is common in peripheral neuropathies because the nerves that innervate these regions are the longest in the body. If you experience these symptoms, get them checked!

3/ Brain and cervical MRI were normal. Nerve conduction/EMG were normal. It wasn’t clear what was causing my symptoms, but at least we are ruled out a lot of scary possibilities. We settled on a wait-and-see approach.

4/ Fast forward to January 2023, I noticed a slight tremor. Nerve conduction/EMG this time revealed clear changes: slower latencies and reduced amplitudes. Deep tendon reflexes were absent. Something was definitely happening in my peripheral nerves.

5/ In March, I had my spinal tap. Elevated CSF proteins with normal cell counts, plus my results and symptoms, was enough for my neurologist to diagnose me with CIDP, an autoimmune disorder where the immune system attacks the peripheral nervous system () https://t.co/K5pIMpgNNJpubmed.ncbi.nlm.nih.gov/34085743/

6/ We then focused on treatment options, all aimed at stopping the immune attack. This means immunosuppression #immunocompromised #maskup First line treatment comprises corticosteroids, IVIG, or plasmapheresis.

7/ I started on high doses of oral prednisone. Pros: Easy to administer. Cons: a number of potential side effects and problematic long-term ()medlineplus.gov/druginfo/meds/…

8/ I started to track my grip strength daily. I wanted quantitative data for an objective measure of my condition. I had grown weak already (<50% of “strong” adult males) and was getting worse. These measures showed me my rate of decline, but also when I started to stabilize.

9/ I have also tracked changes in my voice, dexterity with the pegboard task, and handwriting as other measures. I'm happy to comment on these measures more in future posts. I'll add that tracking my condition was a helpful way for me to take some "control" of my situation.

10/ With insurance approval, I started intravenous immunoglobulin #ivig therapy. This involves infusing immunoglobulins taken from plasma donors #donateblood #donateplasma The idea is these exogenous antibodies compete with my antibodies for resources that are needed for binding.

11/ Problem is if my antibodies don’t need those resources, IVIG won’t work. So identifying what autoantibodies I have was critical, but this is not part of standard care. We did find a clinical lab to test my serum for particular antibodies associated with peripheral neuropathy.

12/ After 8 weeks results came back negative for known antibodies 🤨. Fortunately, with tests performed in parallel (I’m lucky to have amazing friends here @bcm_neurosci) we discovered that I indeed have antibodies that labeled the paranode region of a rodent sciatic nerve!

13/ Having established that I have a paranodopathy (), we sought to identify the particular antibodies wreaking havoc on my nerves. A screen identified antibodies against neurofacscin 155 (NF155) as the culprit. https://t.co/31FenD8L1tpubmed.ncbi.nlm.nih.gov/35989582/

14/ NF155 is expressed on Schwann cells and plays a critical role in establishing the structure and integrity of the node of Ranvier. See this excellent review from my colleague @MattRasband: pubmed.ncbi.nlm.nih.gov/33239761/

15/ I was then able to look into the literature for other patients with NF155 autoantibodies and their features matched mine, notably a lack of response to IVIG. We then had confidence to change course and start plasmapheresis (or PLEX).

16/ PLEX is a process in which a plasma (containing the antibodies) is removed from the blood. This non-selective "filtering" is like dialysis.

17/ PLEX (in combo with prednisone) likely caused the stabilization of my grip strength; however, I’ve continued to experience weakening of other muscle groups, in particular my legs. I am now struggling to walk. So now we need to decide to hold this treatment course...

18/ Alternatively, I may need a treatment that targets the B-cells which continue to produce antibodies. Rituximab is one such treatment that has had success for #cidp #paranodopathy #autoimmune ().pubmed.ncbi.nlm.nih.gov/34120208/

19/ I’m going to stop here for now. I shared my story today because it's been 100 days since I started my grip strength measurements. Today was also @gbscidp's Walk-and-Roll event in Houston (which I missed, sadly). I hope others experiencing CIDP or autoimmune disorders find...

20/ ...some of this helpful. In the future I plan to post more on topics including:
*the 💩show that is the US healthcare and insurance system
*the curious nature of fatigue
*my struggles NOT to have my existence defined by my disease...

21/ *the scary marketplace of unregulated vitamins/supplements
*“Weber” fractions for patients and clinicians
*challenges for family/loved ones becoming caregivers...
If there are other topics you’re interested in, please let me know! I want to hear your thoughts too!

22/ I’ve learned the importance of being informed and educated about my disease, and to be an advocate at every turn. I recognize all the ways that my privilege has helped me in my process and it still has been a struggle.

23/end I hope that sharing my experiences and connecting to a broader community (@gaincharity) can help others dealing with their struggles. Please R/T and share your experiences with #cidp #autoimmunedisorders or ask questions! Don't ignore your health or deal with this alone!

Thanks, everyone, for all of the ❤️! Also, I neglected to credit my amazing (twitterless) partner, Kelly Barnes, for being an absolute rock for our family as my health has deteriorated. I certainly would not have fared as well as I have without her love and tireless support!

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