His Beautiful Smiles

Searching Cure for Progressive Degenerative Disease

 

嬉しすぎるニュースが!(Great News!)


Edit Category 病院 (Hospital)
今、神経科の先生から電話があった。
I just got a call from Leo's neurologist.

なんと、前記事の全エクソン配列解析を保険会社とLabが承認したとのこと。
He said the insurance company and the lab have approved the Whole Exome Sequencing for Leo!

まさか承認されるとは、先生も我々も思っていなかった。
None of us thought they would, so what a great news!

先生も電話の向こうで興奮していた。
The doctor sounded very excited about it on the phone.

こちらはほぼ半泣き…
And on my side, I was half crying...

$7000(70万円)の費用を全額だしてくれるみたい。
The cost (approx. $7000) will be paid by them.

初めて健康保険が保険らしいことをしてくれた。
I know that's what the insurance is for, but still I appreciate that they did the job!

ありがたい。本当にありがたい。
I cannot appreciate it enough.

先生にも感謝感謝!
And of course, thank you, doctor!


Leo!やったぞ!
Leo! We did it!

ついにここまで来た!
We have finally got here!

我々の血も採ってテキサスの研究所に送るみたい。
Our blood is also sent to the lab in Texas.

当然、我々が抱える因子も分かることになるし、間接的にSenaのも分かることになる。
This means we, as parents, will know what we have in our genome and indirectly know about what Sena has too.

もし何か因子を持っていたとしても、それを知りたいと昨日ママと二人で話したばかり。
My wife and I just talked about it last night. Even if we do have something, we agreed that we would like to know about it.

人生一度きり。
Life is just once.

そして最終地点は同じ。
The final goal is the same for everyone.

だから知りたい。
So we want to know about it,

残りの時間を有意義に過ごすために...
to live our remaining life better...

日々の生活で注意すべきことを明確にするために...
to live our life better knowing what to do or what not to do...

そして、もっと長くLeoと一緒にいるために...
And to live and continue to support Leo for much longer...


(c)Todd 2013

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

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


Edit Category 病院 (Hospital)
今日は整形外科のFollow Up。
We went to a follow-up with Orthopedics.

いつものメインのところではなく、若干近場で内陸のところへ。
Today, the doctor is in the office in inland a bit closer to our home.



空いてるからこっちのほうがいいかな?
It was not crowded, so I prefer there actually to the main office.

それにしても内陸は暑い。家を出た時は24度。それが30分車で内陸に行くとこんな感じ。33度って…
But the inland was hot! Our home was 80F but the inland was 96F.



約2年ぶりの整形外科。
It was for the first time in 2 years.

2年で立てなくなったLeoを見て先生もびっくり。
The orthopedic doctor seemed quite surprised the fact that Leo has became unable to stand up in the last two years.

今日はレントゲンを脊椎すべてと骨盤近辺を計3枚。
We took X-ray images of upper/lower spine and the hip.

背骨の曲がりも足首のねじれも無く、何も異常なしとのこと。
No sign of scoliosis and no distortion on his ankles and legs, so it was all normal.

どこに行っても、どの検査をしても異常なしといわれる。
We always hear this wherever we go. "It is all normal."

こんなに異常が明らかなのに…
Even though he is obviously not growing normal...

異常なしという検査結果を聞くたびに、安心すると同時に、また暗い闇に突き落とされる。
Whenever we hear those normal test results, we feel relieved, but at the same time, we are thrown away in the dark again...

この笑顔だけが唯一の救いだ…
This smile always saves us whenever we feel down...




神経科定期検診(Follow Up w/ Neurologist)


Edit Category 病院 (Hospital)
今日は神経科の定期検診。道中の車の中では、音楽に合わせて、Leoがマイクを持って熱唱!ちなみに彼のお気に入りはミュージックステーションで見たAKBとモー娘です。既にオタク?(^^)

We went to see Leo's neurologist today as a regular 4 months follow-up. Leo was singing a song on the radio on the way. He likes music especially the Japanese girls groups on TV. Already OTAKU?



先生と話すのは4ヶ月ぶり。色々話した。やっぱり左足がドンドンつっぱってきた。右足も何だか最近固い。その他近況報告して、とりあえず今のLeucovorinを一日5mgの継続と、一応ドーパミンの薬の処方箋をもらってきた。もしかしたら少し改善するかもという淡い期待を込めて。

We talked a lot about his symptoms. His left leg is getting tighter and the right one is also a little bit too. We decided to continue the current Leucovorin medication 5mg/day and got a prescription for L-dopa, the precursor of dopamine, hoping it helps ease his symptoms.

あと、前にやったミトコンドリア病のDNA検査はミトコンドリア内のDNA検査で陰性だったけど、やはり進行性なので、今度は細胞核のDNA検査(ポリメラーゼ•ガンマ(POLG))をしてみることに。

And he ordered another DNT sequencing test called Polymerase gamma (POLD) and see if any mutations not in the mitochondria but in the actual nucleus. The previous DNT test was that of the former.

しかしいつものように、そこはアメリカ。保険会社から認証されるまで数週間。検査して結果は数ヶ月後。医療技術は世界一かも知れないけど、保険のシステムは先進国最低かな。よく言われるように。

But this is U.S. The approval from the insurance company takes a few weeks and another few months of waiting for the results. As is often said, medical skills and equipment in the States is probably No. 1 in the world, but the health insurance system seems the worst in the industrialized countries.

この間、Leoが日本で一週間の検査入院中には12個のDNA検査を一度にして、結果は2週間後にサクリと。
When Leo stayed at a hospital in Japan, he took 12 DNT sequencing tests all at once with a tiny cost and waited for a few weeks for the results.

その話をしたら、先生は「我々医者もそうしたいけど、この国の医療は保険会社に牛耳られてるから、歯がゆい」とのこと。
When I talked about it, the doctor said "of course, doctors here want to do the same thing but the system is governed by the insurance companies, so I am frustrated ...".

アメリカではまさに「健康」まで「買う」もの。正直、健康ではないひとにはタフな社会です。TPPで日本の宝である皆保険制度が守られることを願うばかりです。

In the States, health is also one of the many things you "buy" and it is a tough society if you are not healthy. I am hoping that Japan protects the national health insurance system the treasure of the country even after the start of TPP.

Senaからのビデオレター


Edit Category 病院 (Hospital)
半年前の話だが、Leoとママは、一週間の検査入院(11/26-11/30)と検査結果待ちのため、日本に1ヶ月滞在した。Senaとパパはサンディエゴでお留守番。そのときに撮ったSenaから検査入院でがんばってるお兄ちゃんへのビデオレター。事前打ち合わせもないのに、なんだかうまく撮れました。

About 6 months ago, Leo and my wife went back to Japan and stayed there for a month. It was for his one week stay at the hospital for various tests. Sena and I were just waiting in SD. So we shot a video to cheer him up! It went amazingly well without any planning beforehand.

Here it is (Sorry, all in Japanese, but saying something like "hang in there! we will see you soon and let's celebrate your return with delicious food!").



これを見たLeoは何度も何度も再生をリクエスト。終わってからは涙目になっていたとママが写メで報告。
それを聞いてパパは号泣(また?^^)。

My wife sent back a picture after he watched it over and over. She said his eyes were in tears... My eyes were in tears when I heard it too (again?) :-)

画像-0007

Leoも痛い注射や点滴、MRIや脳検査のまずい麻酔薬なども、よく耐えたとのこと。
Leo endured all of the painful pokes, shots, IVs, MRI, horrible taste narcotics,etc.

Senaのこのビデオレターのおかげかな?
I bet this video helped him go through that.

これからも一緒にお兄ちゃんを支えていこうね!
So Sena. Let's keep supporting your bother together like this, OK?
 
01 2020
SUN MON TUE WED THU FRI SAT
- - - 1 2 3 4
5 6 7 8 9 10 11
12 13 14 15 16 17 18
19 20 21 22 23 24 25
26 27 28 29 30 31 -

12 02


 
 
 
 
 
 
 
プロフィール (Profile)
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!

 
 
検索 (Search)
 
QRコード (QR Code)
QR
 
 


ARCHIVE RSS