Go through these in order and stop at the first one that applies. If you are reading this for someone else, answer for them.
These symptoms may need an urgent assessment, but they are not always an emergency.
Seek emergency care for severe difficulty breathing, blue or gray lips or skin, choking with inability to breathe, loss of consciousness, or a seizure that lasts longer than the child’s emergency plan allows.
Follow the child’s established seizure or respiratory action plan when one is available.
And for anyone, someone who:
Families should contact the care team promptly if a child develops coughing or choking during meals, reduced food or fluid intake, unexplained weight loss, a weaker cough, new morning headaches, unusual daytime sleepiness, or repeated chest infections.
And for anyone, someone who:
Regular follow-up helps the care team identify changes early and adjust support.
The timing depends on the child’s symptoms and rate of progression.
Visits may review strength, mobility, joint range, spine alignment, swallowing, weight, communication, sleep, breathing, vision, hearing, and seizure control.
The article also says
Genetic counseling may be useful after diagnosis and again when family members are considering testing or pregnancy.
Testing can sometimes clarify whether siblings or other relatives are carriers.
Reproductive options may include prenatal testing or testing embryos created through in vitro fertilization when the familial variants are known.
Every sign above is quoted from the sofidex article on Childhood giant axonal neuropathy. If you are not sure, err upward — it is always reasonable to be checked.