Gender and year of birth
Male, 2019
Description
Edwin has spasms in arms and legs, is very stiff. Involentary movements, he can not sit or move. He is having difficult to grip things, harder with the left hand. He still has infant reflexes. Has downs when he can't/want do anything. Afraid of sudden sounds. In periods he can't lie on his back. He can't turn from from his back to his stomach, can't keep his head up for a extended period of time when on his stomach.
He motor skills are on 5-6 months level. Intellectually around 1 year maybe. He does understand when spoken to. He doesn't have speach
A pseudo deficiency galactocerebrosidase
Symptoms / Signs
- Spasms
- Tense
- Difficulties eating solid food
- Still has newborn relexes
- Episodes when he can't/want do anything
- Motor difficulties
- Reflux
- Stomach problems
- Scream attacs
- Discomfort
- Smells like acetone
- Difficulty sleeping
- Apathetic
- Empty gaze
- Spikes of feve
- Perspiration
- Clenched fists
Current Treatments
- Clonidine
- Baclofen
- Nexium
- Melatonin
- Laxative
- Alimemazine
Prior Treatments
- None
Considered treatments
- Baclofen pump
Previously Considered Diagnoses
- Krabbe desease, Cerebral Palsy
Genetic Variants of Interest
- WGS Metabolic panel without findings
Siblings, age & gender
Healthy Sisters 2015, 2018. Twinsister Ellie 2019 motorskills at 1 year level - she also understands when spoken to but not like normal children. She doesn't have speach.
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Edwin is boy who enjoys pranking and likes to play with his sisters. He loves when the include him in the play or drives him around. He loves to paint even though the paper is tasty to eat too. He likes to play with water and loves to bathe. He wants to do as much as he can and is very stubborn.
