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.
Category CFDとは (About CFD)
Leoがちょっと前まで歩けていビデオを見るのはつらいけど、症状の記録のために時系列で過去４年のビデオをざっと振り返ってみる。正直、ここまで悪くなるとは思ってなかった。今後の新薬の開発や研究に役立ててほしい、何とかLeoや同じ病気に苦しむ人々によい治療法が開発されるようにとの願いをこめて。
It is tough for me to see Leo walking in these videos, but I review them here just for the record of how his symptom progressed over the latest years. To be honest, I didn't expect that the symptom gets this worse, but I am hoping that these videos help promote R&D in new medication or new treatment for Leo and others who suffer from the same disease.
Leoは普通に何の問題もなく生まれた。
Leo was born absolutely normal without any problem.
6ヶ月で寝返り。
6 months old, turning over.
7ヶ月で飛行機とハイハイ。
7 months old. Doing airplane and crawling.
9ヶ月でハイハイマックス ＆ Royとボールの取り合い。
9 months old. Fast crawling and play with Roy over a toy.
11ヶ月で立ち上がる。いきなりすくっと立って驚いた。
11 months old. Standing up. He just stood up! A big surprise!
1歳で歩き始める。よちよち歩きがかわいい
1 year old. First walk. Cute...
It is tough for me to see Leo walking in these videos, but I review them here just for the record of how his symptom progressed over the latest years. To be honest, I didn't expect that the symptom gets this worse, but I am hoping that these videos help promote R&D in new medication or new treatment for Leo and others who suffer from the same disease.
Leoは普通に何の問題もなく生まれた。
Leo was born absolutely normal without any problem.
6ヶ月で寝返り。
6 months old, turning over.
7ヶ月で飛行機とハイハイ。
7 months old. Doing airplane and crawling.
9ヶ月でハイハイマックス ＆ Royとボールの取り合い。
9 months old. Fast crawling and play with Roy over a toy.
11ヶ月で立ち上がる。いきなりすくっと立って驚いた。
11 months old. Standing up. He just stood up! A big surprise!
1歳で歩き始める。よちよち歩きがかわいい
1 year old. First walk. Cute...
