Reviewed by Dr. Munish Kumar Raizada, MD, FAAP (Board-certified Neonatologist)
On New Year's Day 2005, Loren and Sean Simpson living in Omaha, Nebraska received news that would forever alter their family's trajectory. Their newborn daughter, Alex, who appeared completely healthy at birth, was diagnosed with hydranencephaly (HE). Dr. Davey entered the room with his nurses and delivered the devastating news: "You guys need to sit down, this is pretty serious."
The diagnosis was difficult to comprehend. As Sean Simpson explained to KETV, "It means that her brain is not there. Not half her brain, her whole brain. Now, technically, she has about half the size of my pinky finger in the back, in her cerebellum, in the back part of her brain."
Twenty years later, Alex Simpson is not just surviving but she's thriving, defying medical expectations and inspiring everyone around her.
Hydranencephaly is a rare congenital malformation where the cerebral hemispheres are absent and replaced by a large cavity filled with cerebrospinal fluid. This severe brain anomaly occurs in fewer than one in 10,000 births, with no distinction between sexes. 1
The condition was first described by Cruveilhier between 1829 and 1835, who documented two distinct forms: hydrocephalic anencephaly and anencephaly with a complete absence of the cranial vault. The term "hydranencephaly" was later introduced by Spielmeyer in 1905 while studying this anomaly in dichorionic twins. 1
The pathophysiology of hydranencephaly is still controversial, however, most studies suggest that the damage caused to the brain is related to bilateral internal carotid artery occlusion. The incidence varies significantly across populations:
General estimates range from 1 in 10,000 to 1 in 5,000 (0.01% - 0.02%) of pregnancies
A study in Texas showed an incidence rate of 1.4 to 2.8 per 100,000 live births
Research in a Japanese population found an incidence of 2.1 per 100,000 live births
An independent study found that 1% of patients with hydrocephalus were diagnosed with hydranencephaly 2
One of the most striking aspects of hydranencephaly is that affected infants often appear completely normal at birth. During gestation, mothers feel normal fetal movements, and abdominal growth proceeds typically. 2 At birth, babies with hydranencephaly may have:
Normal head circumference
Intact spontaneous reflexes
Ability to suck, swallow, and cry
Normal movement of all extremities
This initial appearance of normalcy makes the diagnosis particularly shocking for families, as was the case with the Simpsons.
The treatment of hydranencephaly focuses on managing symptoms and associated complications, as the condition itself cannot be cured. Standard care approaches include:
Hydrocephalus control: To treat the hydrocephalus, placement of a ventriculoperitoneal or ventriculoatrial shunt system to reduce the intracranial pressure can be performed.
Seizure management: Antiepileptic medications to control seizures
Respiratory support: Tracheostomy in cases of respiratory failure
Supportive care: Physical therapy and nutritional support to improve the patient's overall condition 2
In cases of prenatal diagnosis, therapeutic abortion may be discussed with families to limit maternal morbidity, though this remains a deeply personal decision. 1
The prognosis for patients with hydranencephaly is generally poor, with most children dying before birth or within the first year of life due to complications. However, rare cases of prolonged survival have been documented, with some patients living up to 20 or 22 years, though typically without significant neurological improvement. 2
Alex Simpson represents one of these exceptional cases, celebrating her 20th birthday, a milestone that seemed impossible when she was first diagnosed.
Over the past two decades, Loren and Sean Simpson have witnessed their daughter not just survive, but develop her own unique personality. When asked how they got Alex to this milestone, their answer was simple yet profound: "Love."
According to her family, Alex has grown calmer and healthier over the years. Despite the fact that the parts of her brain responsible for hearing and seeing are absent, her family has observed her personality developing and her ability to connect with those around her.
Alex's younger brother, SJ, now 14, offers a touching perspective on growing up with his sister. "When people ask about my family, the first thing I start with is Alex, my disabled sister," he says. SJ has taken the initiative to research his sister's condition and has grown to understand how to be supportive.
He describes Alex's remarkable sensitivity to the emotions of those around her: "Say somebody's stressed around her, nothing will even happen. It could be completely silent, but Alex will know. She'll feel something. Like if my grandma's hurting in her back, Alex will radiate off of it. It's crazy."
The family reports that Alex responds to their presence in meaningful ways. When Loren speaks to her daughter, she can see Alex searching for her. These interactions, while different from typical communication, represent profound connections that defy medical understanding of her condition.
Alex Simpson's story challenges our understanding of both hydranencephaly and human resilience. While medical literature accurately describes the typical course of this condition, cases like Alex's remind us that statistics don't capture every individual's potential.
The Simpson family's unwavering dedication highlights the critical role of family support in caring for children with severe neurological conditions. Their commitment to providing love, care, and a nurturing environment has undoubtedly contributed to Alex's quality of life and longevity.
As Loren and Sean reflect on their journey: "20 years ago, we were scared, but faith, I think, is really what kept us alive."
Toumi K, Chafiq K, Khayi FE, Daoudi A. Hydranencephaly in a Newborn: A Case Report and a Review of the Literature. Cureus. 2024;16(12):e75435. Published 2024 Dec 10. doi:10.7759/cureus.75435
Sandoval JI, De Jesus O. Hydranencephaly. [Updated 2023 Aug 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK558991/
(Rh/VK/MSM)
