Ned

Ned is undiagnosed
Ned is undiagnosed
Date of Report

Ned

Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues, low tone, poor bladder and bowel control, slow growth.

Gender and year of birth

Male, 2008


Description

Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues,  low tone, poor bladder and bowel control, slow growth.


Symptoms / Signs

  • At birth, no bowel movement, requiring surgery for Hirschsprung disease.
  • At 3-6 months, noted development delays (no babbling), poor feeding, allergies (wheat, egg, peanuts, brazil nut and minor reactions to red meat and rice).
  • At 9 months - 2 years, growth in weight and head size stopped, and significant developmental delays confirmed (motor and language).
  • From age 2 years onward (and still ongoing), behavioural issues (self regulation, aggressivity), vitamin D deficiency

Current Treatments

  • Speech therapy
    Self regulation techniques

Prior Treatments

  • Therapies: speech and occupational therapy, psychologist (for behavior), podiatry
    Treatment/evaluations : Surgery, MRI, EEG,  medications (Dexamphetamine, Vyvanse, Risperidone)

Considered treatments

  • Medication, Therapy, Testing

Previously Considered Diagnoses

  • TESTED: Angelman syndrome, Fragile X  syndrome, Williams Syndrome, Smith-Lemli-Opitz syndrome   Suggested : Cerebal dysgenesis ( unconfirmed/untestable, mother's suggestion?) 

Genetic Variants of Interest

  • Trio exome: - heterozygous variant  in TRIO gene Chr5 (GRCH37):g.14394207C>A (glutamine at codon 1427 is replaced by lysine)

Siblings, age & gender

Full brother, 13 years old, born with gastroschisis. Maternal half sister,  6 years old


Contact

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


Bio

Hi my name is Ned I am 11 years old and very energetic. I love riding my bike and playing sports.
I love helping my family do jobs outside.
I can be cheeky and sometimes naughty, but I’m very loving and affectionate.


More pictures