Gender and year of birth
Male, 2008
Ned is now diagnosed!
Ned received a diagnosis of TRIO-related condition (OMIM #617061) in 2022 through the Western Australian Undiagnosed Disease Program. This was due to a de novo (new, not inherited) missense change in the TRIO gene. If you are interested in reading more about this rare condition there is information for health professionals here and for families here.
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.
