Just before Maddis 15th birthday in 2016 our world was shattered after being called into Great Ormond Street Hospital (without Maddi!!) to be told the devastating news that our little girl may have Krabbe, a life threatening disease.
The UK knew very little of this condition so we began researching and found help at the children’s hospital of Pittsburg, US where a world leading specialist in this disease had been carrying out bone marrow transplants on similar children to Maddi.
A race against time was launched to raise funds to cover and support Maddi to have this treatment but through another test which was recommended by the US specialist she was seeing it was discovered genetically that Maddi had SPG15 and was in fact a carrier of Krabbe. The transplant was then put on hold while research for SPG15 was taking place. We were told that a transplant is not an option for Spastic Paraplegia.
There is little known about the condition and we again sought opinions and more information from other Doctors who are specialists in all types of Hereditary Spastic Paraplegia. We travelled to the National Institute of Washington, John Hopkins Hospital, University of Michigan Hospital and the Montreal Neurological Institute and Hospital to seek help. They are all researching other types of Spastic Paraplegia but as yet to date no cure has been found.
We are now back in the U.K. and back with Great Ormond Street Hospital. Now we are looking at the possibility of Gene Therapy with University of Sheffield Neurosciences. Fingers crossed that this is the way forward to cure Maddi…