A remarkable story has emerged of a woman from Nebraska, Alex Simpson, who defied medical predictions by celebrating her 20th birthday. Doctors initially doubted she would live past the age of four due to her rare condition.
Alex was diagnosed with Hydranencephaly at just two months old. This rare condition meant she was born without most of her brain, with only a small portion in the cerebellum. The Cleveland Clinic describes Hydranencephaly as a defect where parts of the brain, particularly the cerebral hemispheres, fail to develop properly.
Children with this condition often have a very limited lifespan, sometimes only a few months or years. The disorder is usually detected shortly after birth through symptoms indicating brain development issues.
Hydranencephaly typically arises around the 12th week of pregnancy, a crucial phase for brain development. It occurs due to damage to the fetal nervous system at this stage, resulting in large sacs filled with cerebrospinal fluid (CSF) replacing parts of the brain. CSF is essential for cushioning the brain within the skull, but in Hydranencephaly, it leads to an enlarged skull as the fluid accumulates.
The condition is often diagnosed months after birth since some infants may not show immediate symptoms. Sometimes, fetal ultrasounds during pregnancy can detect the condition, leading to decisions regarding the pregnancy due to the child’s significantly shortened life expectancy.
Infants affected by Hydranencephaly typically show three symptoms that prompt medical investigation: an enlarged or misformed head, unusual irritability, and hypertonia, which is an increase in muscle tone leading to stiffness.
Further complications include blindness, seizures, and paralysis, which can develop within months. Diagnosis is generally confirmed through an ultrasound of the baby’s head, as noted by the childhood disability charity Contact.
In severe cases, EEG tests reveal no brain activity due to the absence of significant brain structures.
Although the exact causes of Hydranencephaly remain unclear, certain factors have been identified as potential triggers. There is rarely a specific event during pregnancy pinpointed as the cause.
Potential causes include the death of a twin during the second trimester or acute events such as fetal blood loss early in development. Genetics and inherited conditions are not believed to be factors, with vascular issues after the first trimester deemed the most likely cause.
In rare circumstances, the condition can develop after birth due to severe illness-induced injuries, such as meningitis or stroke.
Hydranencephaly is an extremely rare defect, affecting between one in 5,000 to one in 10,000 births, with a spectrum of severity. Most severe cases result in death at birth, while those with an enlarging head often require a shunt to manage fluid buildup.
Currently, there is no cure, and aside from managing symptoms and preventing further fluid accumulation, treatment options are limited. This makes Alex Simpson’s 20th birthday a truly extraordinary milestone, considering the typical prognosis for the condition.