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What is holoprosencephaly (HPE)?
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Holoprosencephaly is a word with which many people are unfamiliar. For many families, they can remember the exact moment when they heard the word "holoprosencephaly" for the very first time. That 17-letter, seven-syllable word changed their lives.
Everyone will agree that the statistics are depressing, and the medical websites are confusing and frightening. Families for HoPE seeks to provide hope to families and physicians by sharing stories of infants and children who have defied the medical statistics to turn HPE into HoPE.
HPE is a disorder characterized by the failure of the prosencephalon (the forebrain of the embryo) to develop. During normal development, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of pregnancy. HPE is caused by a failure of the embryo's forebrain to divide to form bilateral cerebral hemispheres (the left and right halves of the brain), causing defects in the development of the face and in brain structure and function.
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This brain malformation can range from mild to severe and is classified into four types:
(1) Alobar (severe) - where the brain is not divided and there are severe abnormalities.
(2) Semi-Lobar (moderate) - where the brain is partially divided and there are some moderate abnormalities; where there are two hemispheres in the rear but not the front of the brain.
(3) Lobar (mild) - where the brain is divided and there are some mild abnormalities.
(4) Middle Interhemispheric Variant (MIHV) - where the middle of the brain (posterior frontal and parietal lobes) are not well separated.
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HPE is a condition without a cure or a standard course of treatment. Treatment for HPE is symptomatic and supportive. Children with HPE can also have secondary conditions such as mental retardation, epilepsy, diabetes insipidus, pituitary and hormone disorders, movement disorders and spasticity, gastroesophageal reflux, respiratory disorders, and hydrocephalus.
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According to the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations,
“It is estimated that HPE affects between 1 in 5,000-10,000 live births. Since many pregnancies with a fetus diagnosed with HPE end in miscarriage, the frequency of HPE among all pregnancies may be as high as 1 in 200-250. Current studies indicate that only 3% of all fetuses with HPE survive to delivery and the vast majority of these infants do not survive past the first six months of life.” |
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According to Families for HoPE, there are children defying these statistics every day. Technically, some of them aren't even considered "children" any longer as they are adults in their late teens and twenties! They are our sources of inspiration and hope.
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