This is a difficult journey!

It seems this is a difficult road where the journeys end is a bit of a mystery!

Three months ago Mitochondrial Disease was something that I commiserated others on their discovery of. I was happy in my little world of complexities. We have a child with Down Syndrome who has complications with heart Lungs and Joints. We have a child with Cornelia De Lange Syndrome who has severe intractible epilepsy, gastro-intestinal problems and other medical issues and behavioural challenges, We have a child with dispraxia and a child with Chronic Juvenile arthritis...and we thought we had a child with Severe Cerebral Palsy, possibly athetoid! But affecting all her limbs and causing severe feeding difficulties.

Then suddenly we were shown round a bend in the road and the view has changed! It seems as though the road has headed into a blanket of fog! We have no idea where we are headed, the landmarks are out of view and the guides along the way are not easy to choose! It seems the fellow travelers are the only ones with any idea of the road I am on. There are official guides. They seem reluctant to tell me anything or listen to my questions. The fellow travellers tell me that the official guides can help sort my map...there are things they can do that will allow them to help me know the direction to take...but they dont seem to want to do that! It seems the official guides are unhappy that I have asked the fellow travellers! Even when those fellow travellers tell a similar road behind!

So where can I turn! Is there a resting place along the way? If I sit and rest will I be putting my child at risk? People talk of the supplements their children take that make a difference, if the Official Guides alont this route wont look to see if we are on the right road how can we know if those supplements are lacking for our daughter?

I have one official guide along my route I think may listen. I will reach her fueling station on 20th September...

Our peadiatrician has been fantastic on our other roads, and so I hope to ask her about tests.....simple things....blood and urine at least! Hopefully She will agree to that and we may know if there is anything amiss there! 

Eve has had blood tests before...the tests that show up Mito disorders, would they show up on a simple blood count or test for infection etc? Or are they specific tests? IS there anything I should ask to be tested for that may not be included normally? What would they test for in Urine? Eve's urine smells but not offensive like an infection it is more sweet!

OK I have rambled on!

Thank you all so much for being here. I hope the forum will become more active and be a place to share and support very soon! Thank you those who worked so hard to set it up!

Hugs