Fenna

Fenna is undiagnosed
Fenna is undiagnosed
Date of Report

Fenna

Developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are connected. For these reasons, further genetic research is ongoing at Radboud-umc (genome sequencing)

Gender and year of birth

Female, 2012


Description

F has developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are connected. For these reasons, further genetic research is ongoing at Radboud-umc (genome sequencing)


Symptoms / Signs

  • F has limitations several developmental domains (motor, language and communication, social and emotional) and needs assistance in activities of daily living.
  • She uses shoes with arch support for pes planus (flat feet).

Current Treatments

  • Special education, in which she receives physical therapy, occupational therapy, and speech therapy. Consultations with pediatrician every 6 months. In school the rehabilitation specialist is involved on an ongoing basis. 

Prior Treatments

  • Not applicable

Considered treatments

  •  Not applicable

Previously Considered Diagnoses

  • Not applicable

Genetic Variants of Interest

  • SNP array negative. Whole exome trio: negative

Siblings, age & gender

Brother, 10 years old


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

My name is F, I am a happy girl. I love animals. I like to dance and sing to music, and express my emotions this way. I like to play with other children. At school I enjoy learning to read and to count.


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