A bit like a unicorn or a mermaid…

Today is Undiagnosed Children’s day💕

To date we still have no definitive diagnosis for our Little E. At times, this is incredibly difficult. I’m not saying having a diagnosis would be any easier but it may give us some answers; some connections.

What we know is that Edith is Hypotonic (floppy), she has developmental delay in all areas and she has a malformation of the brain called ‘Delayed Myelination’.

Myelination is a process that happens when the brain is developing. The myelin sheath coats the white matter and protects the pathways that connect all the different parts of the brain. Edith has some myelin sheath present on the outer parts of her brain but the deeper you go the less myelin sheath there is, some deeper parts having none at all making the pathways completely unprotected. We know that the condition has not got worse (degenerative) but it’s also not got any better as far as they can see. The word ‘delayed’ suggests progression in both myelin sheath and development for Edith but this is not a certainty and even though the doctors have suggested this is how it will be, we remain ever hopeful.

Edith has only ever gone forward, albeit slowly. She has learnt many things that most just do naturally; things like sitting (with aid), stepping (with aid), pushing buttons and choosing from objects and pictures. She knows how to smile and laugh and she can certainly cut some shapes on the dance floor.

For now it’s looking all pretty positive for our girl, which in this world is rare, but then she is rare. So rare that after almost 3 years on the 100,000 Genome project (see previous blog post) they still can’t find a cause for all of her troubles. We don’t know what the future will bring but that’s not a bad thing, it allows us to remain positive and hopeful that one day little E may walk or talk or even just be able to communicate efficiently in her own little way. In our home we have prepared for the future as much as we can and will continue to work on the basis that Edith may be the way she is now for the rest of her life.

We are so lucky to have the wonderful charity S.W.A.N (Syndromes without a name) who support and bring closer the families with children with undiagnosed conditions. Tomorrow we will meet lots of other families in the same position as us for a day out at Noah’s Ark Zoo which is all paid for by the charity. Isn’t that amazing?

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