Rare genetic condition?! 2 year old son
Hi everyone. I’m hoping to connect with anyone whose child had a similar combination of symptoms and eventually received a rare genetic or neuromuscular diagnosis.
My 2-year-old has:
Significant proximal muscle weakness.
Walked independently around 12 months but has never crawled or knee-walked and still cannot stand up from the floor without pulling up on furniture or an adult.
Difficulty climbing, squatting and other movements requiring core/hip strength.
Rapid weight gain from infancy and persistent obesity despite a healthy diet.
Mild obstructive sleep apnea, noisy breathing and swallowing/oral motor concerns.
Advanced speech, social skills and cognition for his age.
Mildly elevated CK on one occasion.
Normal chromosomal microarray and normal metabolic screening.
Negative for PWS.
Dialated renal pelvis and reoccurring UTIs
We’re currently seeing genetics and are hoping to proceed with more advanced testing.
Has anyone’s child had a similar combination of motor weakness, hypotonia, obesity and sleep/airway issues? If so, what diagnosis was eventually found, and what test identified it (exome, genome sequencing, neuromuscular panel, etc.)?
I completely understand no one can diagnose him over reddit—I’m just hoping to hear from families whose journey may have looked similar while we continue our investigations.
Thank you ❤️