When Crystal York learned that her daughter Harmony had a rare genetic disease called DHX30, she was shocked. Even more shocking is that Harmony is just one of 40 people worldwide diagnosed with this condition—and the only one with her specific gene mutation. The family is working to provide the best life that they can for Harmony while also pushing for increased research, awareness, and understanding.
According to reporting from Payton Marshall of Fox 19, the York family is currently working to get a service dog for Harmony through 4 Paws for Ability. As shared on the family’s fundraising page:
The service dog would provide peace of mind in so many ways. Her dog would be trained to alert to her seizures, redirect her from potentially harmful activities, assist with stable mobility, as well as track her in the event of elopement.
It will cost about $20,000 for the service dog. The local community has chipped in to help, holding fundraisers and donating a portion to this mission. If you would like to donate, you may also do so here.
What We Know About DHX30
Also known as: Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL)
First identified in 2016, DHX30 is an ultra-rare neurodevelopmental disorder that is caused by de novo missense mutations in the DexH-box helicase 30 (DHX30) gene. Because DHX30 is so rare, it may be misdiagnosed as Rett syndrome, Angelman syndrome, or cerebral palsy.
According to DHX30.org, run by families of children affected by this disorder, symptoms of DHX30 can include:
- Global developmental delays
- Hypotonia (low muscle tone)
- Difficulty feeding
- Sleep disturbances
- Hyper-flexible joints
- Involuntary movements
- Behavioral challenges
- Intellectual disability
- Minimal or absent speech
- Strabismus (crossed eyes)
- Inability to walk or an unsteady gait
- Seizures
Hopefully, in the future, there will be an improved focus on research within this sphere, and more can be determined about DHX30, its prognosis, and potential therapeutic options.
