Trying to learn…
My son (18) is going through a barrage of tests right now to see what’s wrong. He has always been on the low end of weight. I have always felt something is off.
Symptoms:
Very Skinny - has always been skinny
Very little muscle
Start walking with a gait about 6 mo ago
Recently is unable to stand from a seated position
Recently is unable to straighten out arms
Straightening out legs is very tight
Tests Results:
B12 deficiency
Low folate
EMG/NCS showed muscle concerns
Severe ADHD
Basic blood test all normal
CBC
CMP
CK
Pending tests:
Autism assessment - believe he’s on the spectrum with asbergers
MRI cspine
ANA Cascade
Extended myositis panel
B vitamin panel
Copper
Vitamin E
Genetic testing
Advanced PT appointment scheduled
Nutritious scheduled
There are more questions than answers right now. Neurologist says based on EMG result this is muscle vs nerve related. He believes fixing the B12 deficiency will not fix this issues but has to be done. He started injections this week. Neuro feels MD is certainly on the table now but said it could other things too. He said between the labs and genetic testing they should give us a much better idea of a diagnosis.
I’m pretty devastated. I’m in the medical field and have a lot of broad knowledge, but this area I’m ignorant in. I’ve been advocating for a very long time about his weight with just about everyone including his mom and all doctors dismissing my concerns. All saying he’s just a little different, he’s just skinny and has his whole life to gain weight. I don’t know what the new normal looks like for him.
Not sure what I’m asking here. Maybe if anyone else has had similar symptoms, test results or experiences? What should I be asking?