Hello all! I’d like to ask for some feedback regarding my little girl, Estelle, who is 10 months old today. My concerns are listed below:Current known diagnoses:-Turner Syndrome-Sinus pericranii (available information is minimal and conflicting)-Had a ‘clicky’ hip and was in a harness for 2 months, removed at approx. 6 months oldDevelopmental concerns (that I don't believe are entirely related to the above):-abnormal posturing-holds her hands curled forward and in a fist with arms held back behind her shoulders-very difficult to carry her anywhere or hold her for long periods of time because she wriggles and throws herself backwards or sideways constantly-has only begun taking weight on her legs in the last 2 weeks, previous to this has pulled legs up and arched back-cannot get herself into sitting position, cannot support herself when I sit her up, back curled forward - will lose balance and fall sideways or forwards and does not even attempt to put arms out to stop the fall (she does roll over quite well now, but was a slow learner... she also can push up and hold herself up on her arms when lying on her stomach)-marked nystagmus that has been reviewed by ophthalmologist, is not caused by eye deformity so he suggested a possible neurological cause-most movements of hands and feet ‘mirrored’-poor development of of sounds - yells a lot and ‘growls’ at back of throat, also high pitched squealing-has always ‘gargled’ her bottles, and sounds congested when drinking-easily chokes on food if it’s not all puree, dry retching and sometimes projectile vomits when solid chunks touch the back of her throat or with new foods/textures-does not initiate putting anything in her mouth (other than her thumb and bottle), not toys or finger foods. Will only play with or pull things to pieces -pediatrician said her reflexes are a little brisk-she often flaps arms and legs while yelling loudly-legs seem stiff with feet pointed down-‘scissoring’ legs frequently-punches and kicks things repetitively... hard!-extremely happy baby, very social and alert... almost unnaturally content-she wakes up often at night (but very easily settled)-when I pick her up, often feels like her arms, shoulders and spine ‘crack’ (maybe joints) but whenever I have described this to a doctor they stare at me blankly, shrug, and dismiss itEstelle is my third bub and, intuitively, things don’t seem right. I’ve always known that she was different but put it down to TS at first, now i’m sure it’s more than that. I assertively told my pediatrician last week that i’m very concerned she has a dual diagnosis and is showing symptoms of a neurological disorder, possibly CP. She’s been seen by a neurosurgeon who recommended an MRI to investigate the sinus pericranii. The pediatrician was dismissive about following this up with any urgency and told me that MRI would be unlikely to confirm a diagnoses of CP if it was present, and that an early intervention centre will be able to assess and treat her developmental problems regardless of a diagnosis. She also told me bluntly that she doesn’t believe Estelle has a dual diagnosis. I’m still waiting to be put on the waiting list for further investigations (at least she referred her to an early intervention centre).So that’s why i’m here now to ask advice from a wider audience! Am I paranoid, or is this justifiable concern? Would pushing a more prompt MRI have any benefit?Thanks :-)
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