What is Holoprosencephaly (HPE)?

It occured to me today that some of my friends might not know what Holoprosencephaly is.


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. This brain malformation can range from mild to severe.
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 delays, epilepsy, diabetes insipidus, pituitary and hormone disorders, movement disorders and spasticity, gastroesophageal reflux, respiratory disorders, and hydrocephalus.

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.”

With that in mind, any child living with HPE is truly a medical miracle and is beating the odds with each day they live. Within our member families, we have many 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.

~Info obtained from the Families for HoPE, Inc. webpage.