Tália is three years old and weighs only 8.5 kilos and measures 80cm. We do not yet have a diagnosis, although we suspect she has mitochondrial disease. I started this blog whilst pregnant with Tália and on bedrest. Here I share my inner feelings, our journeys, the tests, the mysteries and miracles that face us everyday.
Showing posts with label Primordial Dwarfism. Show all posts
Showing posts with label Primordial Dwarfism. Show all posts
Tuesday, 5 May 2009
Its time to move on and take some action
Well, I have once again reached a point where I feel I need to move forwards - it has been nearly 4 MONTHS since Tália's muscle biopsy and still NO FORMAL RESULT - am I being too patient??? Time to get the ball rolling. I refuse to sit and wait!!! I am so relieved to have made contact with the 'Walking with Giants' Foundation and will be joining their annual family conference. It will be nice to meet other parents going through a similar thing as ourselves. I think we need to look outside Spain as I still feel things are not moving fast enough here. The therapy and physio side is going well but dare I say I think that we should probably take a trip to the States. I have started making enquiries and writing to different doctors but before any progress can be made - I need the muscle biopsy results!!!!
Monday, 20 April 2009
Primordial Dwarfism
Well, I have just seen a Channel 5 documentary, Extraordinary People, Britain's Tiniest Toddlers and my skin is up in goose bumps. This programme aired by Channel 5 is amazing and what's more amazing is that they remind me of Tália. Weirdly too, Kenadie, a dwarf who joins them at a Walking with Giants conference is wearing the same dress as Tália is in the Eye on Spain interview - I am shell shocked, is this a sign? Could Talia have a primary form of dwarfism with mito being a secondary feature?? She seems to fit in with them. Parents of Alex, diagnosed with MOPD 2 have set up an organisation - have a look at it - and please tell me, am I seeing things or does Tália look similar??? See the website - are there more of us with minature kids than we think??? How many people are out there like us but bringing these kids together will give them a social life, a chance to have a community.
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