Somebody might know :)

[tamsin123]

Hello I am brand new to this forum chat stuff, I have joined to see if any body has a child with the same symptoms as my child, I am from England and I have a 14 month old daughter who has some sort of undiagnosed condition .... She cannot suck, swallow, cough, or gag she does not jump to loud noises ( but can hear ) she does not flinch and has stiff arms and legs but is able to move them herself. I went to see a neuromuscular specialist and she said my child has the strangest cry she has seen she does not use the 'normal' muscles to cry with, however she does not cry out loud like a 'normal' child would, she screws up her face and sort of whimpers she can smile but its not a full cheesy grin its very slight. she has a tracheostomy to keep her air way safe as she constantly get pneumonias from free aspiration and is completely fed through gastro button. there is no obvious cause for her condition i.e starved of oxygen at birth Ect my pregnancy and her birth was completely normal. She has a number of test including an MRI scan EEG nerve conduction test blood test muscle and skin biopsy and is still having genetic testing however they have all come back as 'normal' (still waiting for genetic results) she has learnt to roll over and has now just learnt to weight bare on her legs can copy some actions such as high five and screws up her face to give 'kisses' so she is developing but very slowly I'm just feeling really confused as to y nobody here knows what this is so I am hoping there is somebody out there that has similar symptoms and has been diagnosed or can give me ideas that I can ask my consultant to try out ??? Would be really great full if somebody could reply thank u so much xxx

[DanishMom]

I'm sorry mama. I have no knowledge or experience whatsoever. I hope someone can help you. The uncertaincy must be tough to deal with. I wish you both the best.

[purplepaisleymama]

Hi Mama.... 
I don't have any real insight for you, but I was thinking that you might look into tongue tie aas a cause of the weird muscle use for crying and aspiration.....my daughter had a tongue tie ( posterior) and it was the cause of her difficulty with swallowing and aspiration as well as her difficulties with speech. I am sorry that you haven't found any other families who are experienced in what your family is dealing with. There are a few support groups through Orphan net I think, though I am not really familiar with them....we researched extensively with our daughter but have not yet found what we are dealing with. Hugs!!! 

~laura

[AnneS]

Hi. I'm sorry I have not experienced what you are going through. A couple things you said made me think of a condition called Cri Du Chat. I have heard about and met people online that have children with it but never met them personally. Kids with it typically have difficulty swallowing and sucking, and have a really strange cry. It may not be it at all. Just thought I'd mention it.