The impact of rare diseases on reproductive health

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Rare Diseases and the Impact on Reproductive Health

It is estimated that 30 million Americans are affected by rare diseases, with many thousands more worldwide. Rare diseases often have serious implications for sufferers, including a range of complications for reproductive health. While the individual impact may vary, here we take a look at the general effects and explore the ways in which reproductive health is affected.

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Disruption of Menstruation

Rare diseases can have a significant effect on menstruation, with sufferers often experiencing disorders such as irregular or absent periods, or the absence of ovulation. Meanwhile, conditions such as ovarian cysts and endometriosis are likely to be made worse by rare diseases, bringing additional symptoms that can have a negative impact.


Infertility is another common issue for those suffering from rare conditions. Factors that might be affected by the disease include hormone balance, sperm production, and egg quality. Furthermore, medical treatments such as fertility drugs may no longer be effective, meaning that options such as assisted reproductive techniques may need to be considered.

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Genetic Mutations

A range of rare diseases are caused by genetic mutations that are passed on from one or both parents. This can introduce ‘new’ genetic material into an individual, leading to important physical, mental, and reproductive health implications.

Risk During Pregnancy

Any rare diseases present in the parents of a child can also increase the risk of complications during pregnancy and childbirth. Some of the potential risks for the baby include miscarriages, neural tube defects, and structural abnormalities.

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Rare diseases can have far-reaching and significant implications for health, with many of these conditions having effects on reproductive health. From disruption of menstrual cycles to infertility, genetic mutations, and risk during pregnancy, those affected may need to seek additional medical attention to ensure safe and effective management of the condition.

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