Category つぶやき (Tweets)
結局また夜中の2時。
Well, it is 2 in the morning... again...
湯船に浸かってLeoの病気の原因について携帯で検索し始めたのが0時…
It was midnight when I started searching the web for Leo's symptoms in the bathtub.
さすがに2時間は入りすぎ(^-^)。反省…
Well 2 hours were just a bit too long...
今度受けるエクソーム解析についても検索していたら、一つまだ遺伝子検査をしていないけど、症状がピタリと当てはまる病気を発見。
I was also searching the information on whole exome sequencing and just found another disease that his symptoms fit well with.
病名はCharlevoix-Saguenay型常染色体劣性遺伝性痙性失調症。長いので英語の頭文字をとってARSACS(Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay)と言うらしい。
It is called ARSACS(Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay).
これも含め、今度のエクソーム解析で85%の既知の遺伝子疾患がわかる。
The exome sequencing we are having soon will reveal many including this one.
何か分かればいいけど。
And we strongly hope we find something.
期待70%。不安30%…
Feeling like 70% excited, 30% uneasy...
今までも様々な検査で期待を裏切られてきたから…
because we have been disappointed with too much expectation on the findings so far...
でも今回のは、今までの検査とは次元が違うからかなり期待大。
But this is different from all the tests we have done so far, so we are excited more than feeling uneasy.
とにかく原因が知りたいです。
We just want to know why.
神様、お願いします…
That's all, so God, please let us find the cause.
Well, it is 2 in the morning... again...
湯船に浸かってLeoの病気の原因について携帯で検索し始めたのが0時…
It was midnight when I started searching the web for Leo's symptoms in the bathtub.
さすがに2時間は入りすぎ(^-^)。反省…
Well 2 hours were just a bit too long...
今度受けるエクソーム解析についても検索していたら、一つまだ遺伝子検査をしていないけど、症状がピタリと当てはまる病気を発見。
I was also searching the information on whole exome sequencing and just found another disease that his symptoms fit well with.
病名はCharlevoix-Saguenay型常染色体劣性遺伝性痙性失調症。長いので英語の頭文字をとってARSACS(Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay)と言うらしい。
It is called ARSACS(Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay).
これも含め、今度のエクソーム解析で85%の既知の遺伝子疾患がわかる。
The exome sequencing we are having soon will reveal many including this one.
何か分かればいいけど。
And we strongly hope we find something.
期待70%。不安30%…
Feeling like 70% excited, 30% uneasy...
今までも様々な検査で期待を裏切られてきたから…
because we have been disappointed with too much expectation on the findings so far...
でも今回のは、今までの検査とは次元が違うからかなり期待大。
But this is different from all the tests we have done so far, so we are excited more than feeling uneasy.
とにかく原因が知りたいです。
We just want to know why.
神様、お願いします…
That's all, so God, please let us find the cause.
