Just joined this group, trying to get some perspective from others that may have been in my shoes, or are currently. My son just turned one, and has a great team of doctors. However, he is undiagnosed, and everyone seems set on finding what the cause of his issues are.
He looks perfectly normal. In fact- let me share my handsome boy ;-)
No huge red flags that would help with his diagnosis. But- obviously, he has a tracheostomy. He has SEVERE laryngomalacia, failure to thrive (until trach was placed) and hypotonia. He is about to have his trach removed as he has outgrown the laryngomalacia. He is also developmentally delayed.
His doctors insist that there has to be an underlying issue we're missing, and want to find out. We have seen TWO geneticists, one looked at him and said testing was unnecessary, sent us on our way. Second actually did chromosomal testing, which came back with nothing out of the ordinary.
We now have a consult with GI, and referrals to see a neurologist and developmental specialist.
We have weekl PT/OT/Speech/feeding therapy sessions, and his therapists have me in tears each week because I am so proud of the progress he's making. I asked them if his treament would be any different if there was a diagnosis- which it would not. He either needs it or he doesn't, the reason doesn't matter.
My question is this- when is enough? I do want to know why my son has these issues, but mostly just for selfish reasons, I have a habit of kicking myself for not eating exactly as ordered during pregnancy, or thinking if I spoke out more during delivery, something could have been avoided, and basically make it my fault. So having a diagnosis MAY stop that (if it isn't), but it wouldn't change his treatment. If it comes down to having super invasive tests, just to get a diagnosis, is it worth it??