作者: Amber
我的SPTLC1基因有錯譯的突變，在c.431 T>A。我一直到30歲才發病。我的雙腳有非常疼痛的灼燒感，非常嚴重。有時也會有電擊似的疼痛。這些疼痛讓我的走路變得很困難。
為了要減緩疼痛，我的脊髓裡放了一個刺激器，一個放在T8的脊椎節裡，另外一個叫做DRG刺激器，這一個直接和鉛一起放在我的脊髓裡的L-4，L-5，和S-1的位置上。
這些刺激器並不會減緩疾病的進展，基本上它們和疾病本身無關。他們只是去刺激那些控管我雙腳感覺的神經根部。當神經死亡的時候，那個過程是緩慢而疼痛的。刺激器的幫助是藉由干擾從我的雙腳傳回腦部疼痛感覺。刺激器就像一個保全人員一樣: “ 給我停在這兒，疼痛訊息不許過去！”
隨著我的神經死去，在灼熱感階段結束之後，神經就完全的死亡…一點感覺也沒有了…
我不太確定到底是刺激器的關係，還是lyrica的藥物作用，還是我的神經已經完全死了，很不幸，我從小腿以下已經沒有任何感覺了。我的雙腳還是能動，我還是走挺多路的，但是我的腳底有傷口，那是因為我沒有感覺而引起的。
我的手指只有在最前端有些麻。我流汗不多，我的雙腳也一直很冰冷。當我站起來的時候有時血壓會變超低，但除了這些之外，我還頗正常的。
英文原文：
I have a missense on the SPTLC1 gene, at c.431 T>A I didn’t start getting symptoms until I was about 30 years old. Very painful burning sensations in my feet. Very severe. Sometimes lightening strikes. The pain made it difficult to walk. 😞
To help with the pain I had two spinal cord simulators implanted. One at T-8 in the spine, and the other stimulator called a DRG stimulator (stands for dorsal root ganglia), that one was implanted with leads directly on the dorsal root ganglia of the L-4, L-5, and S-1 areas in my spinal cord.
The stimulators don’t stop the disease. In fact, they have nothing to do with the disease at all. They simply stimulate the nerve roots responsible for sensation in my feet. As nerves die, the process is slow and painful. The simulators help by scrambling the pain sensation from my feet back up to my brain. The simulators are like body guards… “Stop there! No pain gets through!”
Also as my nerves die, after the burning phase, then complete nerve death sets in… No feeling at all.
I’m not sure if it’s the stimulators, or my Lyrica, or just complete nerve death, but unfortunately I don’t feel ANY sensation from my calves down through my feet. My feet still work though. I still walk a lot, but I am getting ulcers on the bottoms of my feet since I cannot feel them.
Only the very tips of my fingers are slightly numb.
I don’t sweat much, and my feet are always super cold! I do get super low blood pressure sometimes when I stand up, but outside of all that, I’m fairly normal.