Getting a normal child is every couples expectation. In rare cases, however, some children may be born with rare conditions affecting their physical appearance, mental state or their general growth. Such children born with these genetic conditions may have difficulties as they grow up and their families also get a share of the child’s predicament. Apart from being stigmatized in some places, the type of jobs or activities they engage in are limited.
Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome is one such genetic condition mostly abbreviated as BPES. BPES is a condition that affects infants from their birth classifying it as a congenital disease. The eyes and the reproductive system of patients are the two parts affected most by this condition. BPES has been classified as a hereditary disease through research. Families with individuals having the condition, therefore, have very high probabilities of getting offspring with the condition. 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.
Individuals with the condition are mostly identified by the deformed eyelids. Due to deformities of the eyelids, the vision of the patients becomes impaired. It becomes difficult for the drooping eyelids to be lifted properly.Due to the drooping state of the eyelids, the patient is unable to lift them well. The eyelids drooping is not the only problem as the eyes may also have a problem with the distance between the corners of the eyes which in this condition are long. 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. Help and resources may be found at http://www.bpesfoundation.org/.
Apart from having drooping eyelids, some people with BPES have the disease-causing its symptoms in the reproductive system. This is mostly for young girls and women who when affected by the genetic condition have premature failure of the ovaries. Though they have normal ovaries, their ovaries will not be functional. sometimes, even an ultrasound scan does not detect this condition. Failure to correct the condition however means that the patient cannot reproduce.
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. To give the patient a normal life, the eyelids are lifted surgically. If the failure of the ovary is detected, it can also be remedied. This is done by artificial addition or replacement of hormones involved in functioning off the ovaries. The patient’s body is given an injection of reproductive hormones like progesterone of estrogen. Upon doing this, the patient’s ovaries become functional.
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