Fabry disease

My daughter was diagnosed just before christmas with fabry disease. We are waiting for my son to be tested too. Apparently it may explain why he has such difficult to control asthma and certainly my daughters asthma seems to be headed the same way. In the last couple of months she's had a spate of chest infections needing antibiotics and pred to sort her asthma out. Her peak flow is again dreadful and her chest is hurting her to breathe again. Alfies peak flow is pretty stable at 160 but for Naomi hers should be about 250 when she is well and its fallen again....back down to 170. She's not audibly wheezing yet but it just feels like that s a matter of time. We are waiting for an appointment from great ormond street to come through so she can start on enzyme replacement therapy and meds for early stage kidney failure...hopefully they'll sort out the asthma too.

So hard when a kids so poorly to be able to do nothing.

Anyone else have experience of fabry?

Margot x.

2 Replies

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  • sorry, not come across that before. Just answering so you don't think you're being ignored..... hope you get it sorted. take care.

  • Fabry disease is a rare genetic disorder that is one of a group called lysosomal storage disorders

    More information can be found on focusonfabry.co.uk/disease....

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