10 MONTH OLD, FED THRU TUBE DIRECT TO STOMACH, INVOLUNTARY MOVEMENTS, NO DIAGNOSIS

[Chevarn]

Hi i have a 10 month old niece who could not swallow since she was born, she would either vomit it back up or it would go straight into her lungs.  First signs something was wrong was when at 12wks old a doctor realised she still hadnt smiled - and she still hasnt.  Along with the swallowing issue she had involuntary movements of her legs and arms.  She now has the top of her stomach sewn closed and has a tube going directly into her stomach for feeds, where she still gags everytime she finishes a feed. .its like a choking episode and she get really sweaty.  Her hand point outwards and her legs seem to move in a cycling action, she can not sit up or grab things. Her mother has to give her 24hour care.  She has had every test under the sun, including a lumber puncture but everything seems to come back normal so we are thinking now along the lines of genetic mutations?? Pregnancy was normal, alcohol and smoke free.    

We have only been told that the doctor is suprised she has survived this long and that she more than likely has a very rare, rare disease. . . but one thing we have been told is that she lacks L.Dopa so has started taking medication to supplement that. . .for now.  Please help if you have any suggestions or ideas. . Thanks

[Chevarn]

Thank you so much for your kind words. . .i will keep updating if anything progresses, shes very ill at the moment in hospital

Take care:)

[proudmom87]

I am so very sorry your family has to go thou this. No One should have to watch a child suffer. I wish there was something someone could do for her. As a mother of two boys i could never imagine something like this going on.  I mean yea we went thou a lot after my youngest was born but nothing like this...I just don't know what else to say, just please keep me updated if you would and i really hope something can diagnose her SOON.  Take care i wish yall luck

sincerely
becky
mother of two boys