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A rare disease, as its name suggests, is a pathology that affects a very limited amount of the population (It is estimated that 1 in every 2000 people). They generally affect people from birth (although it can occur at any stage of life), and due to its low frequency, the causes, evolution or treatment are often unknown. Can a woman with a rare disease successfully achieve a pregnancy? What is the risk of transmitting the same disease to your child?
80% of rare diseases have a genetic component. These diseases can be inherited or due to a chromosomal abnormality (for example, loss or gain of genetic material).
Some of these rare diseases can also be caused by exposure to teratogenic substances (chemicals, toxic substances, radiation, ...) during pregnancy or due to environmental factors.
It is estimated that 6 to 8% of the world's population are affected, more or less. In Spain there are more than 3 million people affected with some type of rare disease.
Many of those affected may not be able to lead normal lives, but what happens when a woman with a rare disease stays or wants to become pregnant?
Every woman is different, and every pregnancy is unique. However, due to the peculiarities of women with rare diseases, their pregnancies can be considered risky (it all depends on the disease, we remember that there is a wide range). With what it is likely that the controls to which the woman is subjected are more exhaustive than those of low-risk pregnancies, with more frequent visits to the gynecologist and to the different specialists who carry the mother's own pathology.
And the delivery may have to be scheduled at a certain date, so that you can control the symptoms, and have everything that is required for mom and baby to be safe.
It is very common for women with rare diseases to take medication to control symptoms, or to reduce discomfort. Most of the time, these drugs are teratogens (cause malformations) and the mother should stop taking it during pregnancy, or at least for a few months. For the same reason, mothers who need certain medications to feel better and are not compatible with breastfeeding, once the baby is born will have to opt for artificial feeding.
Approximately 50% of rare diseases have neurological symptoms. More than half of these rare pathologies affect the child population. Most of them are quite serious and disabling (in 65% of those affected), degenerative, chronic or directly fatal (in 50% of cases).
The 5 most common rare diseases are: patent ductus arteriosus, systemic lupus erythematosus, Noonan syndrome, obesity due to melanocortin receptor deficiency, congenital bilateral absence of the vas deferens.
Some rare diseases make pregnancy impossible for women, either due to sterility, or having repeat abortions. However, pregnancy is not impossible, and carried out with rigorous controls, it is most likely that the pregnancy will come to term normally.
To find out more, you can go to FEDER (Spanish federation of rare diseases).
You can read more articles similar to Rare diseases in pregnancy, in the Disease category - on-site nuisance