作者: Jayne
我第一個HSAN1A的症狀出現是在我12歲左右。當時我在收銀台付款。我伸手進錢包拿零錢，但我的手拿不起銅板。我告訴母親，母親叫我別擔心。從那時起，每次看醫生的時候，我都會和醫生提這件事。我有偏頭痛，我知道我母親擔心我得腦瘤。但是，似乎沒有一個醫生擔心這件事。
我34歲時生了第二個孩子。我開始覺得照顧他有困難。我報名參加了“媽媽與我”的課程，但我所能做的就是坐在旁邊看他玩耍。我被診斷有子宮內膜異位症，因此我一直認為之所以我無法做其他媽媽所做的事是因為這個緣故。我的盲腸也開過刀，所以我告訴自己這也是原因的一部分。
我從不喜歡健身房或任何形式的體育活動。雖然運動使其他人感覺舒服和健康，但卻使我感到疲倦和疼痛。我曾經游泳，並且練習打網球，但膝蓋受了傷，所以就此停止了。
我一直感到不舒服，疼痛，和疲憊。最終，我被診斷出患有睡眠窒息症。我以為這就是為什麼我不想做大家都在做的事情。我曾經開玩笑說我一生都在計劃開始生活。這不是開玩笑。除了睡覺以外，我從來沒有力氣或渴望做什麼事情。我母親以為我用睡覺來逃避生活。我們之間有很多的不愉快。後來短短的幾年，我的公公婆婆和父母在短短的幾年間相繼去世。我最大的打擊是失去我的母親。這讓我相信自己健康狀況的惡化是來自於身體對這些事情的反應。
當我的腳趾頭開始有灼熱感時，我找不到任何方法來緩解。於此同時，我的女兒被診斷出患有癲癇。我覺得她的神經科醫生很好，所以我去看他。我的家醫科醫生和這位神經科醫生都認為我患有慢性脫髓鞘性神經炎(CIDP, Chronic inflammatory demyelinating polyneuropathy) 因此開始了靜脈注射免疫球蛋白(IVIG, intravenous Immunoglobulins)每個月五天的療程。開始時，因為有可能引起致命的過敏反應，所以在住院部進行，而我有許多過敏反應。之後，在門診進行，每天8小時，連續去5天。當時我在教風險兒童¹，而每月缺勤也不是一件好事。保險公司決定讓我在家接受治療。我常態性低血壓突然飆高，所以我被送回醫院的輸液中心。 在治療後的第二天，我就因急性副作用而被送回醫院，之後就沒再繼續了。
後來，我在紐約長老會醫院看了一位好醫生²，韋默醫生（Dr. Weimer) 。評估後，他告訴我，我可能永遠都不會知道原因，所以我們只能控制疼痛。不幸的是，後來紐約長老會醫院停止接受我的保險，所以我找了附近的疼痛科醫生來控制我的疼痛。
我的疼痛科醫生讓我服用美沙酮(Methadone)（唯一一種讓我止疼的藥物！）這藥對我頗有效的，除了每年還是會有幾次疼痛發生的時候，我需要去急診室拿額外的止痛藥。所以後來我的專科醫生就給我開口服嗎啡讓我在疼痛發作的時候服用。有一次痛的時候什麼藥物都沒效，於是我的醫生開了Gabapentin給我。我一天最多服用30毫克的美沙酮和900毫克的Gabapentin 一天三次(共90毫克的美沙酮和2700毫克的Gabapentin)。那真是好多藥！加了Gaba後我就不再有疼痛了。
去年的一天，我突然發現我再也無法站在洗手台邊刷牙了。如果我的身體不靠著某些東西，我就會無法控制的往後退著走³ 。那時後，我回去找韋默醫生。他立刻注意到我的狀況惡化許多。那天，我做了許多的神經檢查。化驗室抽出了我的血液送出去做很多檢驗。從他問我的問題當中，我可以感覺到他認為我有hATTR⁴，那是一種致命的神經疾病。這一次他們幫我做基因檢查了。
因為保險已經開始給付這種曾經要價25,000美元的檢查。這也就是為什麼他五年前沒有幫我檢查的原因。
十一天後，韋默醫生親自打電話給我。他說他有好消息也有壞消息。好消息是我沒有致命的疾病。壞消息是，嗯，你已經知道了(Hsan1a)。現在我已經知道我的診斷是什麼了。我了解了L形絲氨酸以及應該服用的量。我買了開始吃。它吃起來的味道像濕濕的土。我服用的時候會作嘔。我每天需要吃大約三大湯匙。我試著把它攪在果汁裡一起喝，但也差不多。我後來感到頭痛，噁心和腹瀉，所以我就停止服用了。幾週後，我決定吃一點點，然後每週增加一些些。一個星期都還沒過完副作用都回來了。因此，我決定嘗試一下錠劑。我得每天服用一整瓶才能獲得我應該服用的劑量。那光是花費就不可能，每瓶要價約30美元。
我後來回去掛他的號，讓我的孩子也也接受檢查。這是遺傳性疾病，只要父母中其中一位有，就有機會傳給下一代。我女兒沒有被遺傳到。所以，她的女兒不必接受測試。不幸的是我兒子遺傳到了。當我們被診斷出來時，他的妻子才剛發現她懷孕了，因此他們的新生兒子也需要進行檢查。我可能永遠都不會知道我是從父母的哪一邊得到的，如果我是被遺傳來的而不是自己突變的話。我父親57歲的時候去世。雖然他有一些症狀，但他從未提及疼痛。我母親去世時71歲。我知道她沒有任何症狀。因此，我可能是(家族中)第一個被發現這種疾病的。當我發現這個疾病有多罕見的時候，我其實感到很震驚！我知道我的突變點在地球上僅只有另一個人和我一樣！我很幸運能與她討論此事，並與她分享信息。
由於這種病非常罕見，而且關於疾病還有很多未知的部分。我的醫生說應該要在身體能接受的範圍內盡可能的多服用L絲氨酸。我嘗試每天服用12到16顆，而不是40顆⁵。我分次服用， 一次4顆，一天三次。如果一次服用太多，我會頭疼。我是希望吃一些總比沒吃好！
我目前的症狀讓我的生活變得困難。我很少開車。我的腳幾乎沒有感覺（除了神經性的疼痛之外！)我無法分辨出腿部到臀部的尖銳刺激和鈍刺激之間的區別。我的手很沒力。從前我視為理所當然能做的事情現在已經不能做了！我無法釦鈕扣，戴首飾或打開東西。玩橋牌時，我也很難握住撲克牌。我也幾乎不再煮飯了，因為鍋子很重，而且我也很難使用刀子。
我的平衡感很差，如果我一個人出去，我會用步行器。我將身體靠在門上，所以我有足夠的時間在洗手台刷牙。我獨自一人的時候我也儘量不淋浴，因爲到目前為止，我已經跌倒三遍了。
我對未來的期待是維持自己能做的事(或進步)以便我可以繼續與我的孫子們在一起。我有一個十歲的孫女，她幫我很多忙。我的剛出生的孫子兩個月大。我能夠照顧他的。我希望我能夠為我的兒子和他妻子所決定要生的所有孩子提供相同的照顧。對我來說，能對我的家庭提供照顧是重要的。當我無法做到這一點時，我將不會真正活著。
我已經做完了物理治療(PT)和職能治療(OT)，這些提供了一些幫助，但大多數情況下是教我技巧，來解決我的殘疾問題。我的生命在很短的時間內從100降到了零。 L絲氨酸並不是一個很確定性的幫助。即使它發揮了它所被期待的功效，那也只是能維持我現在的狀態。是的，這也是我想要的。但是，我真的不想每次想要自己一個人做某件事的時候就會聯想到我其實需要人幫忙載我一程，不然就是想到我根本沒辦法用我的手拿起任何東西。我也希望我再也不需要吃藥了！我已經吃太多了，而這個太多也只能讓我「過得去」而已。
說了許多，我想起了我的醫生給我打的電話。我的“壞消息”本來可能更糟的！因此，我會試著記住這一點，並對我仍能夠做的事感恩和感謝仍能和我一起分享感受的朋友。
¹ 輟學生或誤入歧途的未成年
² New York Presbyterian Hospital
³ 與病友做過確認，是因為肌肉萎縮無力而導致的
⁴ hereditary Amyloid Transthyretin 遺傳性澱粉樣變性是一種常染色體顯性疾病，由TTR基因突變引起，導致錯誤折疊的TTR蛋白積聚為澱粉樣沉積物，堆積在多個器官包括神經，心臟和胃腸道的疾病
⁵ 以體重計算，她應服用40 顆以達到服用建議量
原文:
My first symptom of HSAN 1A came when I was around twelve. I was at a cashier paying for a purchase. I tried to reach in my wallet to get some change and I wasn’t able to make my hand get a coin. I told my mother who told me not to worry and from then on every time I saw a doctor I told him about it. I had migraines and of course I know my mother worried I had a brain tumor. But, none of the doctors seemed worried.
I had my second child when I was 34. I began to have difficulty doing things with him. I signed us up for Mommy and Me classes but all I could do was sit and watch him play. I was diagnosed with Endometriosis and decided that was why I couldn’t do what other moms did. I also had my appendix out so I told myself it was part of the reason.
I never liked gym or any kind of physical activity. While it made others feel good and healthy, it made me feel tired and achy. I was a swimmer and tried to play tennis but I injured my knee and that ended that.
I kept feeling blah, achy, and exhausted. Eventually I was diagnosed with Sleep Apnea and again, I thought that was why I didn’t feel like doing what others did. I used to joke that I spent my life planning to start living. It was no joke. I never had energy or desire to do much but sleep. My mother thought I was sleeping to escape life. We had been through a lot of unhappiness. Sometime later on, I had lost my parents and my parents-in-Law in just a few years, the biggest blow was losing my mother. So, I believed my declining health was a physical reaction to those.
When the tops of my toes began to burn I found nothing to bring them relief. At the same time my daughter had been diagnosed with Epilepsy. I liked her neurologist so I saw him. My primary doctor and the neurologist decides I had CIDP and I began a course of IvIG. This was given over five days every month. The first I had as an inpatient because it can cause a lethal allergic reaction and I had many allergies . Then, I had it as an outpatient. I went five days in a row, eight hours each day. I was teaching at risk kids at the time and my monthly absences weren’t a good thing. The insurance company decided to have my treatments done at home. My usually low blood pressure spiked, along with other acute side effects. I was sent back to the hospital, and that ended the treatment.
Later on, I saw a wonderful doctor at NY Presbyterian Hospital, Dr. Weimer. After the evaluation he told me I may never know the cause so we could only treat the pain. Unfortunately, NY Pres stopped taking my insurance so I saw local pain management doctors to manage my pain.
My pain management doctor kept me on Methadone (the only med that touched my pain at all!). I did pretty well with the exception of a few flares each year which sent me to the ER for extra pain meds. So, my PM doctor gave me Morphine orally to take during the flares. One time I had a flare that didn’t respond to anything. That’s when my doctors added Gabapentin to my meds. I could take up to 30mg Methadone with 900 mg GABA three Times a day. That’s a lot of medicine! Once the GABA was added I stopped having the flares.
One day last year I noticed I could no longer stand at the sink to brush my teeth. If I weren’t leaning against something I would walk backwards without being able to control it. When that happened I returned to Dr. Weimer. He noticed right away how much I had declined. That day I underwent extensive nerve testing and the lab sent my blood away for numerous tests. I could tell by his questions thought I had hATTR, a fatal nerve disease. This time they were able to run genetic testing as insurances had begun to cover this used to be $25,000 test. That’s why he hadn’t run the test five years earlier.
Eleven days after the test was taken Dr. Weimer called me personally. He said he had good news and bad news. The good news is I didn’t have the fatal disease. The bad news is, well, you know(HSAN1A) Now I knew my diagnosis. I learned about L Serine and how much I should be taking. I bought it and began. It tasted like wet dirt. I gagged when I took it. I needed to take about 3 tablespoons daily. I tried mixing it with juice but nothing helped. I got headaches, nausea, and diarrhea. So, I stopped it. A few weeks later I decided to take a little and would add some each week. I didn’t get through the first week without the symptoms returning. So, I decided to try the pills. I would need o take a full bottle daily in order to get the necessary dose. That cost would be prohibited. It costs us about $30.00 per bottle.
I had to return to see him so my children could be tested as well. It runs in families and only one parent is needed to have it for offspring to inherit it. My daughter did not get it! So, her daughter doesn’t have to be tested. Unfortunately my son did. His wife had just found out she was pregnant when we got the diagnosis so their new son will have to be tested. I will never know which parent I got it from if in fact I got it from one and I an not a de novo patient. My father died at 57 and although he had a few symptoms, he never mentioned pain. My mother was 71 when she died. I know she didn’t have any of the symptoms. So, I may be the first, I was shocked to find out how rare this disease is! My particular mutation is known to be shared by only one other on earth! I’ve been lucky enough to speak with her about this thing and share info with her.
Since it is so rare and not a lot is known, my doctors said that I should take as much of the L Serine as I can comfortably take. Instead of the 40 pills I should take daily, I try to take between 12 and 16, and I take them separatel, like 4 pills a time and 3 times a day. If I take too many at once, I get a nasty headache. I’m hoping some is better than none!
My present symptoms make my life difficult. I rarely drive. I have little to no sensation in my feet ( other than the neuropathic pain!). I can’t tell the difference between sharp and dull stimuli on my legs up to my hips. My hands are weak. I have trouble doing things I used to take for granted. I can’t do buttons, put jewelry on, or open things. I have trouble holding my cards when I play bridge, I also don’t cook much any more as pots are heavy and using a knife is hard.
My balance is terrible and I use a walker if I’m out alone. I wedge my body against a door to stay at my sink long enough to brush my teeth. I try not to shower if I’m alone as I’ve fallen three times so far.
What I hope for my future is to maintain my ability (or improve) so I can continue to spend time with my grandchildren. I have a ten year old granddaughter who helps me a great deal. My new grandson is two months old. I am able to care for him. I want to be able to do the same for all children my son and his wife decide to have. That’s the most important thing to me in my life-caring for my family. When I can no longer do that I won’t really be alive.
I’ve done Pt and OT. They have helped a little but mostly give me tricks to work around my disability I want to reverse it. My life went from 100 to zero in a very short time. The L Serine isn’t a sure help. Even if it does what is hoped, that will be to maintain where I’m at now. True, I want that. But I really want not to have to think about this disease every time I want to do something on my own only to find out I need a ride or I can’t hold the pieces any more. I also want to no longer need my meds! I take too much just to get by.
After all this, though, I think about the phone call my doctor made to me. My “bad news” could have been so much worse! So, I try to remember that and be thankful for the things I’m still able to do and give thanks for the friends I’ve made and can share my feelings with.