desperate mum needs answers

[marialou]

hi all.im lisa.i have a 13 almost 14 yr old daughter maria and she has a rare genetic syndrome.just some of her complications are a centronuclear myopathy,ophathmolplegia and syringomyelia.a 9mm syrinx T6-T11.i lost a 4 yr old daughter who had the same syndrome 12 yrs ago and as maria is getting older she is developing more problems and finding everyday tasks we take for granted a struggle.although she doesnt have the heart condition of my other daughter,sorry,charley-ann.as you can well imagine a muscle and a nerve disease isnt exactly a case of take two paracetamol.if only. she is falling over more and complains of chest and neck pain and tingling in her fingers.doctors say they cant tell me anything of how its going to effect her as her syndrome is so rare.im so worried that all these factors with maria will eventually harm her breathing yet doctors wont committ to saying this.its so hard to believe that there is nothing that can be done.i know if doctors dont know what the future is then who will.but i how can i give up.

[Cindee56]

Hi, I am so sorry.  I'm not familiar with this disease but I would say if you're not happy with the doctors and feel they are not giving you answers, start looking for other doctors.  I don't know where you live but if there is a teaching hospital around, sometimes those doctors are better with knowing the latest treatments.  I don't blame you for not giving up.

Please accept my condolences on the loss of your 4 yr. old.

[summer39]

I'm very sorry for all you've struggled and are struggling with.

I really don't know anything about the disease. And I see that you're from the UK but if you're able to get over to the US, the top hospitals here are Johns Hopkins in Maryland, they have a great children's hospital, Children's Hospital of Philadelphia, the Mayo Clinic, and Hospital for Special Surgery in New York City.

Good luck