The Role of the Genetic Counselor - Empowerment Series - 3/14/19
34:06-35:56
So our last set of case examples. Here we'll cover how genetic counselors support their patient's emotional needs and psychosocial concerns.
ご紹介する症例も残すところあと2つとなりました。この症例では、ご両親の願いや心理社会的不安に遺伝カウンセラーがどのように対処するかをご紹介します。
Our next case involves a 17-year-old girl, who was clinically diagnosed with Marfan syndrome early on in her childhood, and she received this diagnosis without any genetic testing because she had a high Marfan syndrome systemic score and she also has a father with a genetically confirmed diagnosis of Marfan syndrome. One thing to know is that our patient never had any genetic testing at least not to date.
患者さんは、子どもの頃にマルファン症候群の臨床診断を受けた17歳女子です。彼女はマルファン症候群の全身スコアが高かったことから、遺伝子検査を受けることなく診断が付きました。父親は遺伝子検査により、マルファン症候群であることが確定しています。この患者さんは、これまでに遺伝子検査を受けたことがないということは覚えておいてください。
So while I'm collecting information about this family's history, the patient's medical history, her mother made a comment that really caught my attention.
家族歴や患者さんの病歴について伺っていた際、母親からの一言が心に引っかかりました。
She had mentioned that she really, really did not want her daughter to have any children and I looked over her daughter, she didn't have much reaction to this statement but I still felt it would really be important to figure out why her mother felt this way.
母親は「娘には絶対出産して欲しくない」とおっしゃいました。娘さんは特に反応しませんでした。私は、母親がこうした発言をするに至った背景を知る必要があると感じました。
So I asked her to share more information about, you know, why she had that sentiment and I came to find out that the patient's mother and father both felt pretty guilty that Marfan syndrome and its associated health risks were passed on to their daughter and they really didn't want that to happen again in their grandchildren.
その理由について母親に伺ったところ、父親、母親ともに、娘さんにマルファン症候群やそれに伴う他のリスクが遺伝したことに罪の意識があり、将来、お孫さんに再び同じことがあってはならないと考えていることがわかりました。
And many parents who have passed a genetic condition onto their child feel guilty for doing so, even though it was something that was completely beyond their control. So after really validating that their emotions were completely normal, I thought it was also appropriate to segue into talking to them about different reproductive options. Next slide.
遺伝性疾患がお子さんに遺伝したことについて、全く手の及ばないこととはいえ、罪の意識に苦しむご両親は大勢います。そうした反応は全く正常であることをご理解いただいた上で、出産に関するその他の選択肢についてお話することが妥当であると考えました。
So now our patient had not yet had any genetic testing and her father's results from long ago had been lost because he'd had them several decades prior, I believe, and if we were able to obtain a positive genetic testing result for this patient now, this would open the door for a few different reproduction options for her when she's ready to plan her own family.
この娘さんはまだ遺伝子検査を受けておらず、父親についても検査を受けたのが数十年前と思われましたので、結果は入手できませんでしたが、もし、この患者さんから陽性の検査結果が得られれば、将来、家族を持ちたいと考えた時に、幾つかの選択肢が利用できる可能性がありました。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.org にアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
