Kabuki Syndrome Network in Japan Newsletter 歌舞伎ジャーナル  第27号

《平成16年1月11日》

 DNA検査が終った今、報告できるお話

 ボストン大学に血液を送るまでに数回ミルンスキー博士とメールでのやり取りをしました。そのうち、差し障りのないものは歌舞伎ジャーナル第22号にてお知らせしましたが,それ以外のものを今回その概要を報告します。原文については,後半に掲載しています。

@ 10月27日 ミルンスキー博士への質問

DNA検査の結果、8番染色体が異常があったとき、または正常のときどのように主治医に報告すればよいか。

A 10月28日 ミルンスキー博士からの回答

・これは、頭の中によく入れてほしいのですが,リサーチプロジェクトであって,歌舞伎症候群を正確に診断するものではない。

B 11月3日  ミルンスキー博士への質問

・Aの回答を受け,「以前あなたは,私達に向けて,歌舞伎症候群と正確に診断されなければならない」と発表されたのではないか,Aの回答文とでは、私は矛盾を感じる。

C 11月4日  ミルンスキー博士からの回答

・既に今はAで統一されている。

以下、原文

@ 10月27日 ミルンスキー博士への質問

Dear Dr.Milunsky:

Thank you for your sending me the form of informed consent. It was so difficult to translate in Japanese that it took many hours to understand. I have other questions as follows;

We don't have a medical doctor in our network as a member, so I am asking advise to my daughter's doctor regarding the blood sample. I am afraid we will not be able to send the blood sample of all our members all at once.

Please advise me, if the blood test result identify him/her as a Kabuki Syndrome carrier or not, what would be the suitable procedure to take? Is there anything that I, as a coordinator of Kabuki Network to pay special attention, in asking them for cooperation to the blood sample?

I don't know how to talk the result of blood test to my daughter's doctor . What will be the suitable treatment that he/she should do? I'm not good at in English. Please reply me again.

Thank you.

Toshinobu Ozeki

A 10月28日 ミルンスキー博士からの回答

Dear Mr. Ozeki:

We hope to receive several of your members' blood samples along with their parents' at the same time. Keep in mind that this is a research project and is not designed to change the specific care of a patient already diagnosed with Kabuki syndrome. As per our protocol, you will receive the results of the testing that will indicate whether the affected person with Kabuki syndrome shares the typical genetic finding. I am hopeful that you can coordinate several families to send their bloods at the same time.

Best wishes.

Yours sincerely,

JEFF MILUNSKY, M.D.

Director, Clinical Genetics

JM:afg

B 11月3日  ミルンスキー博士への質問

Dear Dr. MILUNSKY

Thank you for your mail.I felt difference of your writting about diagnose with kabuki Syndrome between CASE A and CASE B.

CASE A

 We believe that we have found the underlying etiology of Kabuki syndrome in your son/daughter. Further studies on chromosome 8 are underway. Another blood sample in a green top tube is requested along with a blood sample from the child's mother (green top ? 10cc). Once our findings are confirmed, we will be in contact with you again. We are very excited about our initial findings and hope to provide additional information over this next month.

 The blood needs to be shipped overnight Priority Delivery by Federal Express and can be billed to our Federal Express number Best wishes.

JEFF MILUNSKY, M.D.

CASE B.(you send me it 10/28)

Keep in mind that this is a research project and is not designed to change the specific care of a patient already diagnosed with Kabuki syndrome. As per our protocol, you will receive the results of the testing that will indicate whether the affected person with Kabuki syndrome shares the typical genetic finding.

Would you please reply and explain me you diagnose our son/daughter with Kabuki Syndrome.

There is a big wall of languages, so I regret I can not express my thought.

Next

Maybe You wanted some photos. Is this OK? (Face and Fingers)http://www003.upp.so-net.ne.jp/kabuki_j/chara.htm

(X-RAY and CT) http://www003.upp.so-net.ne.jp/kabuki_j/gall.htm

Best wishes.

Yours sincerely,

Toshinobu Ozeki

C 11月4日  ミルンスキー博士からの回答

Dear Mr. Ozeki:

The picture on the Japanese Kabuki Syndrome Network page is fine. The Case A that you refer to is an old email sent out to the families that we have already enrolled. The email referred to as Case B is meant for you. After genetic analysis, we will provide you with information regarding your child. This information will indicate whether your child shares the typical genetic finding found in other children in our research study.

When do you think we can expect blood samples from you and others in your network?

Best wishes.

Yours sincerely,

JEFF MILUNSKY, M.D.

Director, Clinical Genetics

JM:afg

 

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