物語の始まり、軟骨無形成症と断定/ Begining of the Story, Dignosed as Achondroplasia

物語の始まり、軟骨無形成症と断定/ Begining of the Story, Dignosed as Achondroplasia

不治の難病 軟骨無形成症と診断

翌週、私を待っていたのは、まさに運命をかえる診断結果。

骨系統疾患、軟骨無形成症と断定。

実に現実離れした話で、何のことやら呑み込めない私に、成人身長130cm、幼児の高い死亡率という医師の説明に「はっ」と事態に気付きました。
骨系統疾患、軟骨無形成症とは何か。そして、代表的な合併症である水頭症、大後頭孔狭窄とは。これまでの人生で一度たりとも耳にしたことがない。

主治医の話を聞く中で、息子が経験するであろう様々な困難・苦闘・葛藤から「絶望」という二文字が私の脳裏によぎってきました。

喜ばしいはずの出産がとんでもない事実を知ることになる。

 

★軟骨無形成症
15,000~40,000人に1人の確率で起こる突発的な常染色体不良。
代表的症状としては、主として低身長があげられます。骨のうち長管骨という手や足の長い管状の骨の成長軟骨の発達が悪く、成人男子の平均身長が130cm、女性で124cmにしかなれない。幼児期までは様々な合併症を引き起こし、治療を起こった場合の死亡率が5-10%とかなり厄介。3-4か月に一回の割合でCT、MRIなどの検査が必要となる。

まさかわが子にこんな難病がふりかかるとは。

親なら誰もが信じたくないはず。何かの間違いであって欲しいと、ただそう願うばかりでした。

The next week, the moment we were waiting for resulted in a diagnosis that would change my future. The result was that my son was born with “Achondroplasia”. That is, skeletal dysplasia. It was unreal for me, but I realized the emergency situation when I listened the to key words “130 cm” that was the adult patients’ normal height…and the mortality rate of newborns and infants was not so low.

“What is achondroplasia, the serious complication called “hydrocephalus “and “foreman magnum”? I have never heard those words in my life. While listening to the doctor’s explanation, I was worried about that our son would experience difficulties, struggles, and sadness and I almost felt despair. Who knew until yesterday that what were really happy moments could turn into an atmosphere like a living hell?

According to the doctor, achondroplasia (ACH) is a common cause of dwarfism due to a genetic disorder. People with ACH have short stature, with an average adult height of 131 centimeters (52 inches) for males and 124 centimeters (48 inches) for females. The prevalence is approximately 1 in 15,000-40,000. Children with ACH need to have a CT or MRI every 4 months. I really felt there was no future for my son with such an incurable disease. Every parent doesn’t want to believe that truth. The only thing I could do was wish it was misdiagnosed.

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