罕見疾病患者一直是社會上較為弱勢的一群。以往對於罕病患者的相關議題大多著重於社會福利政策、醫療資源分配或健康照顧等，但這些討論均是對於「已經存在」的罕病患者的安置，本論文想要討論的則是在罕見病患的發生之前，即罕見疾病嬰兒被誕生時，是否有減少病人受苦的可能，一個罕見病人能否有機會擁有同等幸福人生的根源性問題。 當前在遇到罕見病患「該不該」生育小孩的問題時，通常會面臨兩難的選擇：⑴明知孩子可能嚴重的不健康仍執意生育，這樣的選擇經常會面臨道德上的責難；⑵但是在另一方面，一味的限制其生育權利也意味著剝奪其完成、經驗懷孕過程、及想要有一個有血緣關係小孩的可能，並且否定尊重其生育自由對罕病家庭的幸福所產生的正面整體的貢獻。如果在醫療科技的協助下，如基因治療、基因增強等，給予有基因疾病的胎兒胎內治療或增強，這是不是生育自由的範疇所涵蓋的？現今的文獻多集中在討論嚴重畸形兒是否應該墮胎，或者生下嚴重畸形兒會造成對於家庭與社會的負擔，並沒有從幸福家庭的角度去論辯罕見疾病患者的生育權利，以及是否可以擁有更積極的生育權利。因此，本論文以「權利」為進路，從「能擁有子女的家庭幸福」角度來探討積極的生育權，在證成生育是一種道德權利外，並期待日後能成為政府在修改政策時，建立他們的法律權利的參考。 Rare disorders patients are the more vulnerable group of society. Most topics about the rare disorders patients focus more or less upon social benefit policies, allocation of medical resources, or health care and so on. These topics concern more about the treatments of rare disorders. The focus of this thesis is on the basic problem whether there is a possibility to reduce their pain before rare disorders babies are born, and whether there is an opportunity for them to own the a happy life like a normal family. When a rare disorder family faces the dilemma of giving birth to a baby, they usually have two possible outcomes. Either they insist doing it though they know that the baby may be seriously unhealthy and face the charge of being immoral. Or, they are deprived of the right to give birth to a baby. The latter will deprive their experience of the conception process, deprive their chance to have a baby with consanguinity, and to deny them the freedom of giving birth which may contribute to the happiness of the rare disorders family. With the help of medical technology, such as gene therapy and genetic enhancement, we explore whether it should be consider as part of the freedom to give birth that we should give the fetus of rare disorders genetic treatments. Now most of the time, we argue whether the deformity baby should be aborted, or how it will make a heavy burden to the family or society. We seldom consider their birth right in the light of the value of a happy family and whether they possess the more positive birth right, for example to get help for gene therapy, genetic enhancement and so on. This thesis argues for the moral right of birth of rare disorder patient from the value of enjoying a happy family and hope that it may serve as the ground for the establishment of a public policy that treats such birth right as a legal right in the future.
