Emily Matthews

Emily Matthews

Girl with Ecardi syndrome
Country: Great Britain

  1. Emily Matthews: A Life with Ecardi Syndrome
  2. A Heartbreaking Diagnosis
  3. Ecardi Syndrome
  4. A Difficult Journey
  5. A Message of Hope
  6. A Life Defined by Ecardi Syndrome

Emily Matthews: A Life with Ecardi Syndrome

Emily Matthews, a two-year-old girl from Middlesbrough, suffers from Ecardi syndrome, a rare and incurable genetic disorder that severely affects her quality of life. Emily is unable to speak, walk, or feed herself due to the underdevelopment of the nerve fibers that connect her brain's two hemispheres. Doctors estimate that she experiences up to 20 seizures a day, some lasting up to 40 minutes. While Emily requires round-the-clock care, there are no guarantees of her long-term survival.

Emily Matthews

A Heartbreaking Diagnosis

Emily's mother, Lindsey Shaw, describes the pain of witnessing her daughter's condition. Emily is visually impaired, unable to hold her head up, walk, talk, or crawl. When Emily was just two weeks old, Lindsey became alarmed during a routine breastfeeding session when Emily began choking on milk and turned blue around her mouth. Emily was rushed to the hospital and tests revealed developmental brain abnormalities.

Emily Matthews

Ecardi Syndrome

Further examinations confirmed that Emily's corpus callosum, the band of nerve fibers connecting the right and left hemispheres of the brain, was almost non-existent. Both hemispheres were also underdeveloped. The subsequent vision tests led to the diagnosis of Ecardi syndrome, which means that Emily will be disabled for the rest of her life.

Emily Matthews

A Difficult Journey

In the year following her diagnosis, Emily's seizures worsened. She now experiences daily seizures, some lasting only seconds, while others can last up to 40 minutes and occur at least 20 times a day. Medications have little effect in calming her seizures. Emily's condition continues to deteriorate, and she has faced multiple chest infections and hospitalizations.

Emily Matthews

A Message of Hope

Despite the challenges they face, Emily's family has received messages of love and support from other families with similar experiences. These messages provide hope that individuals with Ecardi syndrome can live into their teenage years and beyond. However, Emily's future remains uncertain, and her family hopes to prolong her life by closely monitoring her health.

A Life Defined by Ecardi Syndrome

Individuals with Ecardi syndrome have underdeveloped or absent tissue connecting the brain's two hemispheres. Seizures, often progressing to epilepsy, begin in infancy and can be difficult to treat. The syndrome may also cause choroid-retinal lacunae, defects in the light-sensitive tissue at the back of the eye, which can lead to blindness. Other common brain abnormalities include asymmetry between the two sides of the brain, reduced size and number of brain folds and grooves, as well as cysts and fluid-filled cavities near the center of the brain. Most individuals experience varying degrees of developmental delay and intellectual disability, ranging from moderate to severe. However, some individuals with Ecardi syndrome may have milder cognitive impairments. The severity of the syndrome can vary, with some individuals experiencing severe epilepsy and others not surviving childhood. Those less severely affected may enter adulthood with more moderate signs and symptoms.