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Searching Cure for Progressive Degenerative Disease

 

神経科のFollow Up (Neurology Follow-up)


Edit Category 病院 (Hospital)
2日連続での定期健診。
Doctor follow-ups two days in a row.

今日は神経科。4ヶ月ぶり。
Today's was the 4-month follow-up with his neurologist.

さまざまな検査結果はいつものようにすべて異常なし。
During the 4 months, various tests were done and the results came back as all normal, again...

そして、とても重要な検査結果が発表に。
And one of the most important results is...

それは以前書いたFR抗体検査の結果。
That's the result from Folate Receptor (FR) antibody assay

で、結論は異常なし。
To say the conclusion first, it was all normal.

つまり、LeoはCFD(脳葉酸欠乏症)ではないことが判明…
This means that Leo does NOT actually have CFD (Cerebral Folate Deficiency).

薬のLeucovorinも効かないから、そうだろうとは予測していたが、またこれで原因不明度が増してしまった。
We had expected the result since the medication Leucovorin did not improve his symptoms. But that takes us back to the beginning and deepens the mystery on the root cause...

一年前Leoの病気の根本の原因をやっと見つけたと思ったのに...
We thought we had finally found the root cause a year ago, but now we were dumped in the dark again...

このブログのタイトルも変えないと…
And I need to obviously change the blog title now...

IMG_1554_2013082615534757d.jpg

そして、また新たな原因探しの旅が始まる。
Another journey of searching the root cause starts today...

といっても、日米で、単体の検査はもうするのも無いくらいしている。
although we have gone through so many tests here and in Japan, so the numbers of tests remaining is pretty exhausted.

ということで、担当の先生と話した結果、全エクソン配列解析を「受けれるように動いてみよう」とのこと。
After we discussed with his neurologist, we agreed to "make an effort" to have "Whole Exome Sequencing".

「受けれるように動いてみよう」とは、この系の遺伝子検査は新しすぎて、保険会社も州のMedi-Calも承認しないということ。
"make an effort" means that the tests like Whole Exome Sequencing is so new that neither insurance companies nor State Medi-Cal cover the cost.

つまり実費…
In short, it will be all out-of-pocket...

まあ、分かってはいたけど… 
We knew that already, but..., oh well...


では、全エクソン配列解析(Whole Exome Sequencing)とは何ぞや?という話になる。
Anyway, what is Whole Exome Sequencing in the first place?

実は全ゲノム配列解析(Whole Genome Sequencing)は知ってたけど、これは知らなかった。まだまだ勉強不足…
We knew "Whole Genome Sequencing" but did not know about it. I need to study more...

まあ、要は全ゲノム配列解析の簡易版というか実用版らしい。
In short, it is a realistic alternative to Whole Genome Sequencing.

全ゲノム配列解析は約30億ある塩基対すべてを読み込んで、遺伝子変異が見られるかを分析する。
Whole Genome Sequencing reads the entire 3 billion base pairs to find out genetic mutations causing the diseases.

しかし問題はコスト。
The problem is the cost.

最近安くなってきたとは言え、ゲノムすべてを読み込むのに最低10万円。
It has been getting cheaper, but still just reading the entire genome costs at least $1000.

しかし、もっともコストがかかるのがその後の解析でウン百万円かかる(らしい)…
But more expensive is the analysis later, which could amount to tens of thousands dollars.

Appleの前社長のSteve Jobsがこの全ゲノム配列解析に1000万円払った話は有名だ。
Famous story is that the former Apple CEO Steve Jobs reportedly paid $100,000 for the test.

そこで出てきたのが、この全エクソン配列解析。
So this is too expensive for a regular person like me and that's why this Whole Exome Sequencing was invented.

これは端的に言うと、ゲノム全体の2%のみを解析することで遺伝子変異の85%をカバーするというもの。
In short, it reads only 2% of the entire genome that covers 85% of areas where the diseases come from.

タンパク質をコードするゲノムのうち、ヒトの疾患の原因となる遺伝子変異の約85%はエクソン領域が由来で、そこにターゲットを絞った解析方法らしい。
It is targeting at those 2% exome areas that are responsible for 85% of generic diseases (it is also called "targeted exome capture").

だからコスト面で現実的かつ、膨大が計算が省かれるから解析も速く効率的なようだ。
Thus, it is realistic method in terms of cost, and fast and efficient with significantly less computation.

コスト面で現実的といっても、ウン十万円から数百万円の話。
Well, it is realistic compared with the cost with whole body sequencing, but still costs thousands or tens of thousands dollars.

その検査を「受けれるように動いてみよう」ということのようだ(涙)。
Anyway, we started going in that direction.

また行政やその他に助成プログラムがないか探す日々。
And I need to find some financial support program to get this test done.

そして、遺伝子変異を特定しても、大多数の脳疾患は現状では治療法や治療薬がないのが現実…(もちろん今のところは…だけど)

And it is the reality that even if we found the root cause, most of the brain diseases don't have cure as of today...

「不治の病」って言葉…
"disease without cure"...

もっと遠くに聞こえる言葉だったのに…
The phrase used to sound unreal to me...

今はたまにとても近くに聞こえるときがある…
But now it sounds really real sometimes...

また、もっともっと努力して、遠くに聞こえるようにしていかなきゃ…
I need to work harder and harder so that it again sounds unreal...

そして一緒にそんな言葉ふっ飛ばそうぜ!
And let's beat that phrase together!

な!Leo!
Right? Leo!

IMG_1581.jpg

Newer Entry嬉しすぎるニュースが!(Great News!)

Older Entry整形外科のFollow Up (Orthopedics Follow-up)

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カリフォルニア・サンディエゴ郊外在住。失調症の息子のことを中心に、日米の障害児事情の比較や、ふと思ったことなどを書いてます。コメント、TBフリーです。

From San Diego, CA. Topics on my son with ataxic CP, US-Japan comparison on physically-challenged children, and just some tweets from life. Comments welcome.

leosena

Author:leosena
FC2ブログへようこそ!

 
 
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