Category つぶやき (Tweets)
今夜中の1時。今日はLeoの夜泣きがひどい。風邪でたんがノドに詰まっても、筋肉の
コントロールが出来ず、あまり上手くせきができないからか…お腹に力が入らないから、慢性的に便秘でガスが溜まっているのか…
It is 1:00 AM now. Leo keeps crying. Maybe nasal congestion? Phlegm? Constipation? Gas? Because of CFD (Cerebral Folate Deficiency), he has hard time getting phlegm out, controlling coughing, and due to muscle weakness in the trunk area, he is always constipated.
言葉が出ないから、
ただひたすら泣いて訴えるしかないんだろうけど
ホント、分かってあげられなくてゴメン…
子供が一生懸命泣いて訴えてるのに
分かってあげられない。こういう時が
正直つらい。ただただこっちも
泣いて抱きしめるしかできない。
もうちょっと言葉がでれば分かるんだけど…
少しづつ練習していこうね。
But the worst is he cannot tell us what's wrong verbally and the only way is just crying hard. It is just too tough to see your son in pain, but you don't know why exactly he cannot talk. The only thing I can do now is to hold him tight and cry together, repeatedly saying sorry, sorry, and sorry... Well, Leo. We need to practice more together, so let's reduce the situations like this little by little, ok?
コントロールが出来ず、あまり上手くせきができないからか…お腹に力が入らないから、慢性的に便秘でガスが溜まっているのか…
It is 1:00 AM now. Leo keeps crying. Maybe nasal congestion? Phlegm? Constipation? Gas? Because of CFD (Cerebral Folate Deficiency), he has hard time getting phlegm out, controlling coughing, and due to muscle weakness in the trunk area, he is always constipated.
言葉が出ないから、
ただひたすら泣いて訴えるしかないんだろうけど
ホント、分かってあげられなくてゴメン…
子供が一生懸命泣いて訴えてるのに
分かってあげられない。こういう時が
正直つらい。ただただこっちも
泣いて抱きしめるしかできない。
もうちょっと言葉がでれば分かるんだけど…
少しづつ練習していこうね。
But the worst is he cannot tell us what's wrong verbally and the only way is just crying hard. It is just too tough to see your son in pain, but you don't know why exactly he cannot talk. The only thing I can do now is to hold him tight and cry together, repeatedly saying sorry, sorry, and sorry... Well, Leo. We need to practice more together, so let's reduce the situations like this little by little, ok?
Category CFDとは (About CFD)
約9ヶ月ぶりのアップ。
Leoは、たった一年で歩くどころか、自分で立てなくなった。
その間、日本とアメリカで様々な検査をして分かったこと。
それは、Leoが脳葉酸欠乏症（中枢系葉酸欠乏症, Cerebral Folate Deficiency, CDFとも言われる）であるということ。
この病気は脳、脊髄を含む中枢系の葉酸値が極端に低くなる病気で原因は不明。
葉酸値が低いと脳からの信号が体全体に伝わりにくくなり、結果、体全体のコントロールができないくなる。
症状としては脳性まひの一種である運動失調に近い。
Updated for the first time in about 9 months.
Leo has become unable to stand up by himself in the last year, so naturally walking is impossible now.
He went through all kinds on diagnostic tests in the U.S. and even in Japan.
What we found is that he has Cerebral Folate Deficiency (CFD).
The cause of this very rare disease is, in short, the extremely low level of folate acid (5-methyltetrahydrofolate or 5-MTHF)in the brain/spinal fluid, which prevents signals to go normally from brain to the peripherals or vice versa. The symptom itself is those of cerebral ataxia, which is another diagnosis that he has too.
Leoは、今は何をするにも介助が必要。でも毎日リハビリがんばってる。
Leo now needs 24/7 support but he is trying hard everyday, practicing how to stand up and walk at physical therapy, how to finely control the muscles at occupational therapy, how to speak at speech thrapy, etc.
自分は最大限がんばっているだろうか？
Leoのつらさを十分分かってあげられてるだろうか？
When I look at him, I always ask myself "am I trying hard like Leo?" or "am I really understanding what he is feeling when going through this tough situation?"
なんだかそうじゃない気がする。
もっとがんばらないと。Leoのように。
I feel like I am not.
I need to try harder, much like Leo.
Leoは、たった一年で歩くどころか、自分で立てなくなった。
その間、日本とアメリカで様々な検査をして分かったこと。
それは、Leoが脳葉酸欠乏症（中枢系葉酸欠乏症, Cerebral Folate Deficiency, CDFとも言われる）であるということ。
この病気は脳、脊髄を含む中枢系の葉酸値が極端に低くなる病気で原因は不明。
葉酸値が低いと脳からの信号が体全体に伝わりにくくなり、結果、体全体のコントロールができないくなる。
症状としては脳性まひの一種である運動失調に近い。
Updated for the first time in about 9 months.
Leo has become unable to stand up by himself in the last year, so naturally walking is impossible now.
He went through all kinds on diagnostic tests in the U.S. and even in Japan.
What we found is that he has Cerebral Folate Deficiency (CFD).
The cause of this very rare disease is, in short, the extremely low level of folate acid (5-methyltetrahydrofolate or 5-MTHF)in the brain/spinal fluid, which prevents signals to go normally from brain to the peripherals or vice versa. The symptom itself is those of cerebral ataxia, which is another diagnosis that he has too.
Leoは、今は何をするにも介助が必要。でも毎日リハビリがんばってる。
Leo now needs 24/7 support but he is trying hard everyday, practicing how to stand up and walk at physical therapy, how to finely control the muscles at occupational therapy, how to speak at speech thrapy, etc.
自分は最大限がんばっているだろうか？
Leoのつらさを十分分かってあげられてるだろうか？
When I look at him, I always ask myself "am I trying hard like Leo?" or "am I really understanding what he is feeling when going through this tough situation?"
なんだかそうじゃない気がする。
もっとがんばらないと。Leoのように。
I feel like I am not.
I need to try harder, much like Leo.
