Category CFDとは (About CFD)
先週末あたりから、Leoの右足の出が悪くなってきた。硬くて突っ張ってる左足に加えて右足まで…
Since last weekend, Leo's right leg is not moving as he wants. The left one is spastic but now the right leg is becoming like that too...
もう心配で心配で、どうしたらよいものだろう…
I don't know what to do... Just very worried about it...
お薬も5mgに戻したけど、なんだか効いてないような…。
We changed the medicine back to 5 mg since it is not working well...
明らかに悪くなっている。
His symptoms overall is getting worse...
来週は神経科の先生との定期検診。今後のことをじっくり話してみます。
We are seeing the neurologist next week for his 4 months follow up. We are gonna talk about a lot with him.
は～。ママもパパもどよ～んって感じ。
sigh... My wife and I are feeling not good...
心配です。ホント…
so worried ...
Since last weekend, Leo's right leg is not moving as he wants. The left one is spastic but now the right leg is becoming like that too...
もう心配で心配で、どうしたらよいものだろう…
I don't know what to do... Just very worried about it...
お薬も5mgに戻したけど、なんだか効いてないような…。
We changed the medicine back to 5 mg since it is not working well...
明らかに悪くなっている。
His symptoms overall is getting worse...
来週は神経科の先生との定期検診。今後のことをじっくり話してみます。
We are seeing the neurologist next week for his 4 months follow up. We are gonna talk about a lot with him.
は～。ママもパパもどよ～んって感じ。
sigh... My wife and I are feeling not good...
心配です。ホント…
so worried ...
Category CFDとは (About CFD)
CFDと診断されてLeucovorinを飲み始めて半年。あまり効いてない…正直。やっぱりだんだん悪くなってるような気がする。
先日、病院に勤めているLeoの同級生の親から全ゲノム解析でLeoのような症状の双子がドーパ反応性ジストニアであることが判明し、Lドーパという薬で普通の生活が送れている話を聞いた。近所に住んでるみたい。病院も同じようだ。ニュースにもなったみたい。
この病気関係で調べてみたら、セピアプテリン還元酵素欠損症(SPR)なんてのもでてきた。
どちらも全ゲノム解析で確定するみたい。来月の定期検診で担当医に聞いてみるつもり。
奇跡を信じて…
人気ブログランキングへ
先日、病院に勤めているLeoの同級生の親から全ゲノム解析でLeoのような症状の双子がドーパ反応性ジストニアであることが判明し、Lドーパという薬で普通の生活が送れている話を聞いた。近所に住んでるみたい。病院も同じようだ。ニュースにもなったみたい。
この病気関係で調べてみたら、セピアプテリン還元酵素欠損症(SPR)なんてのもでてきた。
どちらも全ゲノム解析で確定するみたい。来月の定期検診で担当医に聞いてみるつもり。
奇跡を信じて…
人気ブログランキングへ
Category CFDとは (About CFD)
3歳4ヶ月。立って歩いているのもやっとな感じ。学校、家でもよく頭から転んで傷だらけ。このころ医者に、検査の結果は問題ないが、脳性まひの一つの運動失調の疑いあり。今後、普通の子のようには成長しないと言われる。言われたときは、何も考えられなかった。目の前、頭が真っ白になり、ただシーンとした時間だけが経っていた。その時間はかなり長く感じられた。ママと二人で泣いた...
3 years and 4 months. Still keeping standing and walking but very unstable. He was often falling at school and home, so he had many wounds on his face. Around that time, the doctors told us that his symptoms are those of cerebral ataxia even though no physical evidence was found. We were told that he would never grow up normal like other kids. We could not think about anything when we first heard it. Nothing was in my head or in front of me. Everything looked blank or empty and the absolute silence dominated the room. It felt lasted very long, and my wife and I were in tears more than ever before.
3歳6ヶ月。上のビデオからたった2ヶ月で立つのも困難になった。
Just 2 months from the video above, at 3 years and 6 months, he started having trouble standing up.
3歳10ヶ月。自分では立てなくなった。病院でいろんな検査をしたけど未だに原因不明。痛かってよね～。様々なサービスを受けるため、症状から脳性まひ・運動失調と診断確定。しかし、このころ、担当の医師が思い当たる非常に稀な病気の検査のために髄液をとる。結果が出るのが数ヵ月後。毎日不安で不安でしょうがなかった。
Became not able to stand up by himself at 3 years and 10 months. He went through various tests at the hospital, but the exact cause was still unknown. To receive various services he needs, he was officially diagnosed as cerebral ataxia. But his neurologist had some idea on a rare disease, so they took his Cerebrospinal fluid (CSF) to test it. I was worried about everything everyday...
この数ヶ月後、検査の結果が出て、非常に稀な病気である脳葉酸欠乏症が判明。2012年11月のことだった。最初の受診から約2年。もしかしたら薬で症状が少しよくなる可能性が出てきた。空が抜けるような青空だったのを今でも覚えている。
A few months later, the results came back and found that Leo has a very rare disease called Cerebral Folate Deficiency (CFD). It was October 2012 and two years had passed since Leo saw the doctor for the knock-knees in 2010. The neurologist told us that there is a potential that he gets better with medicine. I still remember that the sky was very clear back then.
3 years and 4 months. Still keeping standing and walking but very unstable. He was often falling at school and home, so he had many wounds on his face. Around that time, the doctors told us that his symptoms are those of cerebral ataxia even though no physical evidence was found. We were told that he would never grow up normal like other kids. We could not think about anything when we first heard it. Nothing was in my head or in front of me. Everything looked blank or empty and the absolute silence dominated the room. It felt lasted very long, and my wife and I were in tears more than ever before.
3歳6ヶ月。上のビデオからたった2ヶ月で立つのも困難になった。
Just 2 months from the video above, at 3 years and 6 months, he started having trouble standing up.
3歳10ヶ月。自分では立てなくなった。病院でいろんな検査をしたけど未だに原因不明。痛かってよね～。様々なサービスを受けるため、症状から脳性まひ・運動失調と診断確定。しかし、このころ、担当の医師が思い当たる非常に稀な病気の検査のために髄液をとる。結果が出るのが数ヵ月後。毎日不安で不安でしょうがなかった。
Became not able to stand up by himself at 3 years and 10 months. He went through various tests at the hospital, but the exact cause was still unknown. To receive various services he needs, he was officially diagnosed as cerebral ataxia. But his neurologist had some idea on a rare disease, so they took his Cerebrospinal fluid (CSF) to test it. I was worried about everything everyday...
この数ヶ月後、検査の結果が出て、非常に稀な病気である脳葉酸欠乏症が判明。2012年11月のことだった。最初の受診から約2年。もしかしたら薬で症状が少しよくなる可能性が出てきた。空が抜けるような青空だったのを今でも覚えている。
A few months later, the results came back and found that Leo has a very rare disease called Cerebral Folate Deficiency (CFD). It was October 2012 and two years had passed since Leo saw the doctor for the knock-knees in 2010. The neurologist told us that there is a potential that he gets better with medicine. I still remember that the sky was very clear back then.
Category CFDとは (About CFD)
2歳ちょうど。走ってます。でも、Ｘ脚なので主治医に見てもらったら、偏平足だから心配ないと言われる。このころまでは何も悪いなんて思わなかった。
Just turned 2 years old. Running! But we saw his doctor for the knock-kneed legs, but she said "no worries, it is just flat feet." So we never thought that something bad was going to happen back then.
2歳5ヶ月。実家に帰ったときの歩行の様子。ちょっと不安定に見える。親父に医者に行くように薦められる。
2 years and 5 months. Walking near my parents house in Japan. Looks a bit unstable, so my dad recommended us to go see a doctor.
2歳11ヶ月。近くのビーチで。歩行がかなり不安定になってきた。このころにいろんな医者に見てもらい始めるが原因不明。
2 years and 11 months. At the beach nearby. Walking was getting more unstable and started seeing various doctors, but the cause was unknown.
Just turned 2 years old. Running! But we saw his doctor for the knock-kneed legs, but she said "no worries, it is just flat feet." So we never thought that something bad was going to happen back then.
2歳5ヶ月。実家に帰ったときの歩行の様子。ちょっと不安定に見える。親父に医者に行くように薦められる。
2 years and 5 months. Walking near my parents house in Japan. Looks a bit unstable, so my dad recommended us to go see a doctor.
2歳11ヶ月。近くのビーチで。歩行がかなり不安定になってきた。このころにいろんな医者に見てもらい始めるが原因不明。
2 years and 11 months. At the beach nearby. Walking was getting more unstable and started seeing various doctors, but the cause was unknown.
Category CFDとは (About CFD)
1歳4ヶ月でビールの缶を積み上げる。
1 year and 4 months old. Piling cans of beer.
1歳5ヶ月。歩行も安定してきた。
1 year and 5 months old. Walking firmly.
1歳6ヶ月でサーフィンのバランスの練習。このときは「将来はプロサーファーだね」なんて言ってたな～(涙
1 year and a half. Practicing balance for surfing. I remember I said "Future pro surfer here!"... tears...
1歳11ヶ月。まったく普通の歩き方。
1 year and 11 months old. Normal gait.
1 year and 4 months old. Piling cans of beer.
1歳5ヶ月。歩行も安定してきた。
1 year and 5 months old. Walking firmly.
1歳6ヶ月でサーフィンのバランスの練習。このときは「将来はプロサーファーだね」なんて言ってたな～(涙
1 year and a half. Practicing balance for surfing. I remember I said "Future pro surfer here!"... tears...
1歳11ヶ月。まったく普通の歩き方。
1 year and 11 months old. Normal gait.
