Maddi was diagnosed with an extremely rare disease called SPG15 (Spastic Paraplegia Gene 15) which unknown to us she had been harbouring this condition until she reached 13 years old. SPG15 is a type of motor neuron disease but is very rare in fact it appears that there is no one else in the UK this and it is thought to be less than 100 people in the world with this disease type. It is known to develop paralysis in all four limbs, also causing abnormalities of the brain. In addition it affects the peripheral nervous system impairing vision and hearing, it can also bring on early juvenile Parkinsonism. The disease is taking hold and gradually disabling her legs as it progresses. We do not know the speed nor when and where it will end. We need to act quickly so we can stop it from destroying Maddis capabilities. THE JOURNEY SO FAR....
Just before Maddis 15th birthday 2016 our world was shattered after having been called into Great Ormond Street Hospital (without Maddi) to be told the devasting news that she may have Krabbe a life threateningly disease. We were told that Maddi was the only teenager in the UK to have this. Very little was known of this condition so we began researching and found a doctor at the children's hospital of Pittsburg, USA who specialised in Krabbe and thought Maddi could potentially have a bone marrow transplant to save her. A race against time was launched to raise funds to support Maddi to have this treatment in the US but further testing recommended by the US specialist discovered genetically that she had a different disease called SPG15 and was in fact a carrier of Krabbe. We returned home to then go through the same process of being told SPG15 is extremely rare and Maddi is the only UK patient. There is very little known about the condition, we sought out more medical opinions to help Maddi and travelled to National Institute Of Health in Washington, University Of Michigan Hospital and Montreal Neurological Institute Hospital. Although they were researching some forms of Spastic Paraplegia, to date no cure has been found. We were told gene therapy may be our best option but vigorous research has to be done. So far with our continued fund-raising we have managed to support UK scientists to work on a Gene Therapy for Maddi's disease. Fingers crossed that this is our way forward to cure Maddi. For more upto date information, please read our posts ๏ฟฝ๏ฟฝ๏ฟฝ
