Monday, February 20, 2012


Hydranencephaly is a cephalic disorder, which is a congenital condition that derives from damage to or abnormal development of the fetal nervous system. (cephalic is the medical term for "head" or more precisely "head end of body"). It is an extreme form of porencephaly, which is characterized by a cyst or cavity in the cerebral hemispheres. Hydranencephaly presents itself as the absence of the cerebral hemispheres, which are replaced by sacs of cerebrospinal fluid (CSF)... these children are missing most, if not all, of their cerebral cortex (gray matter). Generally the cerebellum and brainstem are formed normally, though some cases present with an absent or smaller than normal cerebellum as well. There is no definitively identifiable cause, though some cases have been attributed to a variety of hereditary or recessive genetic conditions, environmental factors such as maternal infection (toxoplasmosis and viral infection), pharmaceuticals, or extremely high levels of radiation. Other cases are associated with twin-to-twin transfusion causing neurological damage to the surviving or stronger twin; and the most likely general cause is by vascular insult such as a stroke, injury, or other traumatic disorders after the first trimester of pregnancy. While many children with hydranencephaly also have hydrocephalus (accumulation of CSF in the ventricles), the conditions should not be confused with one another. Hydranencephaly does not discriminate, inflicting both males and females in equal numbers. 

Symptoms do not always present themselves at birth. Oftentimes the infant appears typical for months prior to diagnosis. Others may have additional abnormalities that are present at birth, including seizures, myoclonus (involuntary sudden, rapid jerks), respiratory problems, and possible detected vision/hearing impairments. Some infants may have some distortion of the skull and upper facial features due to fluid pressure inside the skull associated with hydrocephalus, while others still seem normal; presentation is dependent upon the severity in most cases. Eventually the child, with or without initial diagnosis, will become irritable and display increased muscle tone. If not present at birth, seizures and hydrocephalus may develop, as well as lack of physical and developmental growth and possible paralysis. Older children generally develop other complications to include: gastrointestinal problems, seizures, respiratory disease, and feeding issues which result in placement of feeding tubes... all of which are manageable with an optimistic care plan. 

As previously noted, diagnosis may be delayed for many months in infants that display normal early behavior. Prenatal diagnosis is also possible using fetal ultrasound, though complete clinical evaluation to include: physical findings, detailed patient history, advanced imaging techniques (MRI, CT scan, or angiogram), and transillumination (the shining of a bright light through the skull) after birth are the most accurate diagnostic techniques. In prenatal diagnosis, misdiagnosis of differential diagnoses including bilaterally symmetric schizencephaly (a less destructive developmental process on the brain), severe hydrocephalus, and alobar holoprosencephaly (another neurodevelopmental anomaly). Though hydranencephaly is typically a congenital disorder, it can occur as a postnatal diagnosis in the aftermath of meningitis, intracerebral infarction, and ischemia (stroke), or other traumatic brain injury. 

Treatment is symptomatic, there is no cure and the condition is ultimately terminal. However, the textbook prognosis which deems the condition "incompatible with life" and describing children with a diagnosis of hydranencephaly as in a "vegetative state" has been proven to be less than accurate. The oldest known individual with hydranencephaly is 32 years old; not without complications or limitations, but certainly aware of and interactive in their surroundings.

Global Hydranencephaly Foundation
Families are offered support, information, guidance, and resources. Through our efforts in education and awareness campaigns, the medical community will become enlightened to the possibilities that exist for these children and the world will learn to accept this condition as simply an obstacle in the lives of these little miracles.

Global Hydranencephaly Foundation Family-to-Family Support Network (for all families)

Angel families

Journey of the Bees 
Global Hydranencephaly Foundation's Blog

Brayden's Story :

My own son Brayden Alexander, the namesake of our parent foundation and inspiration that led me to establish Global Hydranencephaly Foundation, was diagnosed at birth in June 2008 with hydranencephaly. We were given the typical grim prognosis and stripped of every ounce of hope for our 'lil man. Fortunately I connected with other families and chose to believe in more than what the medical professionals presented as factual after finding so much hope and inspiration in these other children. After being presented with ample opportunity, and blessed with an optimistic outlook on life in general which fueled a passionate determination, I incorporated the foundation in June 2011 as a nonprofit organization. Brayden does have a long-list of obstacles he has and has yet to overcome, but is certainly not living in a vegetative state nor is he lacking on love of life skills. You can read his entire life chronicled at his CaringBridge page ( He has therapies and spends much of his "free" time visiting his friends in the medical profession, his doctors, but he also attends preschool 5-days a week where he is learning to communicate via switch and loves interacting with his peers. He and his friends, our little "bee" friends as they've been titled, across the globe have the potential to change the lives of thousands of families facing a diagnosis of hydranencephaly for their own little ones; many already involved with the cause, while many more we have yet to encounter. My hope is to expand this nonprofit endeavor, eventually providing grants for assistance with therapeutic services, equipment, medical costs, and other financial responsibilities of caring for these children. Information for adoption and designated care to insure families are not overwhelmed by the amount of involvement required in caring for these children is also of top priority. Awareness campaigns and merchandise to create recognition of the cause and what this condition is also available, with an ever-growing supply of items to choose from. The foundation is guided by individual family needs as it grows. The ultimate goal is not to cure, simply to insure these little lives are allowed to shine... all inspired by a blue-spectacled little man with a gigantic smile!

Contributed by MOM Alicia Harper

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