u/BeautifulSea8733

Hello, all! Thank you for your guidance and input in advance.

I have a one year old and a two year old who both have between 6 and 8 cafe au lait macules that are at least 5mm. They're all pretty small and I would say they are mostly atypical, but both of them have at least one typical lesion. Our pediatrician referred us to a derm, which we scheduled with but have yet to see. My husband has only 3 CALMs that are more than 15mm and several that are smaller. His are all atypical/coast of maine. He and the kids don't really have any other symptoms of NF so I haven't been too concerned about the potential of a diagnosis. After seeing the pediatrician again for something unrelated, he expressed more concern and asked if we saw the derm yet and to make sure we give him the updates after we do. He said the coast of California thing is not always true and that more than 6 spots regardless of shape warrants further investigation. He also said that such a tiny percentage of people have this many spots without any underlying diagnosis, regardless of their shape. Thoughts? Advice?

Context: I have a 9 month old who is pretty physically delayed. She has obvious low muscle tone, and it seems it is affecting her oral development pretty seriously as well. She's been in PT for about 3 months now, but at her 9 month appt I asked to see a SLP because the baby's tongue rests outside her mouth almost all the time. Like 97% of the time, even when sleeping. She doesn't have any other symptoms that are typical of airway issues, but I wanted to be sure so I requested the referral. The pediatrician immediately brought up Cerebral Palsy and suggested we do an MRI, but gave me the referral to an SLP in the meantime. The baby did have a hypoxic ischemic event at birth. Her apgar scores were a 3 at 1 minute, 7 at 5 minutes, and 9 at 10 minutes. This, paired with the physical delay (no other delays noted), is why the pediatrician thinks we should get the MRI. The PT is on the fence, says she doesn't want to give an opinion on the situation. The SLP says absolutely not, this is not CP, it's just a typical motor delay with idiopathic hypotonia. She's so sure of this and gave me lots of stories of kiddos with CP that don't sound anything like my kid, so she almost has me convinced that the pediatrician is wrong. I work with people with disabilities for a living, many of whom have CP, and not one person with CP has the same set of symptoms. So that leans me back toward believing the Ped. I just don't know if an MRI or a diagnosis is worth it at this age? Does anyone have thoughts on this? Was an early diagnosis critical for you or a loved one? Would you say the risk of an MRI under sedation was or would be worth it to explore a diagnosis that might not even be present?