Gender and year of birth
Female, 2010
Description
Developmental delay (mental level equivalent to about a 1-year-old level). Soft limbs, cannot stand up or move without aiding devices. She does not communicate with speech or signs, rather through body language and eyes.
Symptoms / Signs
- Low muscle tone
- No speech
- Gradually lost mobility in the right arm
- Very active, constant involuntary movements in combination with hypermobility severly disrupt her motor skills.
- Light sensitive
- Soft, smooth and fair skin
Current Treatments
- No medical treatment. Active treatment focus on aiding devices to help with her hypermobility and prevent scoliosis
Prior Treatments
- None
Considered treatments
- None
Previously Considered Diagnoses
- Mitochondrial disease - Leighs syndrome
Genetic Variants of Interest
- Mutation on OPA1-gene - c.967A>G(p-Thr323Ala)
Siblings, age & gender
Sister 2013 (healthy)
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Felicia is an extremely positive, curious and cheerful girl. She is in constant motion and loves to explore her surroundings. She does this by grabbing, pulling, biting and pinching most of what she can access. She has a sense of humor and laughs a lot at the mischief and expectations of those around her. She clearly shows emotions
