When you’re a baseball fan, any chance you get to join in and really experience the game is amazing. Seven-year-old Ella McKee has always been fascinated by baseball. She loves watching games and cheering—especially when her brother Ethan plays in his high school basketball games. 

Julia Kauffman reports for WCNC Charlotte that Ella recently got the chance to throw the first pitch during Hopewell High School’s baseball game. She was invited to undertake this amazing honor by her brother’s coach, Shawn McGeorge. Even more amazingly, this was an opportunity for Ella to not just feel her community’s support but show everyone what she’s capable of.

Ella has an extremely rare neurological condition called vanishing white matter disease (VWM)—one of 50 conditions that make up the larger category of leukodystrophies. When she was first diagnosed, her parents Jesse and Heather were baffled, confused, and scared. Doctors told the family that Ella was just one of 300 children worldwide with VWM. 

Currently, there is no cure for VWM, though there are treatments available to help manage symptoms. It can be overwhelming to think about what the future will bring. Heather and Jesse continue to hope for additional research into treatments and a potential cure. In the meantime, the family focuses on the bright spots in each day—and baseball is certainly a bright spot for Ella. They’re thankful for the joy it brings her and for the continued opportunity to raise awareness.

If you’d like to learn more about Ella’s story, VWM trial updates, and the push for VWM awareness, take a look at Rock the Rose, a website that her family put together. 

What is Vanishing White Matter Disease (VWM)? 

Also known as: Childhood ataxia with central nervous system hypomyelination (CACH) 

Vanishing white matter disease (VWM) is a progressive inherited disorder caused by EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5 gene mutations. These mutations reduce the function of a protein called eukaryotic initiation factor 2B (eIF2B). The Leukodystrophy Research Resource Org Inc. explains that: 

Partial loss of eIF2B function makes it more difficult to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, resulting in the signs and symptoms of [VWM].

VWM causes myelin deterioration and destruction in the central nervous system. Myelin is the protective covering of neurons. There are various forms of VWM with different onsets: antenatal, infantile, early childhood, juvenile, and adult. The antenatal and infantile forms are most severe. 

Early childhood onset VWM is the most common form. Children may appear to develop normally before symptoms occur. VWM may progress slowly, though episodes of rapid deterioration may occur following head trauma or infections. Symptoms may include: 

• Delayed motor skill development
• Mild speech delays 
• Neurological deterioration
• Muscle stiffness and spasticity
• Difficulty coordinating movements 
• Fatigue and lethargy
• Abnormal ovarian development (ovarian dysgenesis) 
• Optic atrophy
• Febrile episodes (episodes of recurrent fevers) 
• Seizures
• Coma