This beautiful, brave, local Essex girl, just turned 15, was achieving great goals in her ice skating, dancing and drama.
A few weeks ago her world was shattered with a diagnosis that she has been harbouring a rare genetic disease called "Krabbe (pronounced 'krabbay') Disease" - for which A bone marrow transplant is the only option. At 15, Maddi is the only person within the whole of the UK to be diagnosed with Krabbe disease so whilst The UK 'may' be able to attempt a transplant, theyhave never attempted one on a person of her age for this disease.
The goal is still to get her to America where the top specialist can oversee a bone marrow transplant as its her only hope toward curing her of this condition.
"Krabbe is the lowering and eventual loss of an enzyme which we all need to protect the lining of all the nerves from our brain to every part of our body. As the enzyme diminishes, the lining disappears to zero. In its process, the nerves gradually die off and bit by bit, so will the whole body.
The disease is taking hold and gradually disabling her legs and starting to progress. We do not know its speed nor when and where it will end.
We Want to act now so we can stop it from destroying further .and eradicate it totally.
A bone marrow donor match is currently being searched for within the uk and America.
Maddi has just returned from USA where we paid for rapid extensive tests. Whilst we wait for those results it's excruciatingly difficult knowing this disease is still working and creating irreversible damage. We are in the hands of professionals waiting for a concrete plan. One thing we did learn in USA is that Maddi is even rarer than rare and her deviation of the krabbe gene makes her one of just a few in the whole world.
Whatever the outcome we continue to raise funds for her and the family to support her in any treatment that is best for her and her future quality of life.