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Understand The BPES Condtion

Any couple expecting a child often have hope for a normal child. In rare cases, however, some children may be born with rare conditions affecting their physical appearance, mental state or their general growth. If a child is born with a genetic condition affecting the above named, both the patient and their families have an almost equal share of disturbing experiences as the child grows. These people may be affected by stigmatization in certain localities, how they mingle with the others and the types of jobs they can do are limited.

BPES is the abbreviation of one such genetic condition called the Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome. BPES is a condition that affects infants from their birth classifying it as a congenital disease. It mostly affects the eyes and the reproductive system. Research has shown that BPES is a hereditary disease. This means that the families with individuals with the condition have the highest probability of passing it on to their offspring. The disease has common symptoms experienced in genetic conditions such as growth retardation, mental problems and physical malformations. BPES in addition to these has two major symptoms special to it.

The first most common symptom shown in individuals with BPES is defects in the eye and specifically the eyelids. Malformed eyelids impair the vision of the patients. The eyelids will be drooping and do not open well. Apart from the drooped eyelids, the distance between corners of the eyes is enlarged and such eyes do not see well. What a long distance between the corners of the eyes does is to prevent easy movement of the eyeball reducing the ability of the eye to make a clear vision.

The reproductive system is another part affected by the genetic condition if it does not touch the eyes. Young girls and women affected by the condition will have a problem of premature ovarian failure. Though they have normal ovaries, their ovaries will not be functional. It is even hard for the premature ovarian failure to be detected by an ultrasound scan. Unless this condition is rectified, the patients are rendered infertile.

Now that the condition’s symptoms have been brought forward we will see what available solutions are there. The drooping of eyelids is sometimes left if the eyelid drooping does not prevent vision. In extreme cases, however, eyelid surgery is done. The surgery involves lifting of the drooping eyelids and the patient goes on with his or her normal life. Rectification of the ovarian failure can also be done if the condition is identified. Hormones involved in the functioning of the ovary are added into the system artificially. The patient’s body is given an injection of reproductive hormones like progesterone of estrogen. These rejuvenate the ovaries and the start functioning properly.

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