Maddi is fighting SPG15 disease, a rare life limiting condition with no cure
Maddi was the first person in the UK to be diagnosed with SPG15
Watching Maddi skating on the ice, spinning and dancing filled me with happiness; her smile was so infectious enjoying life, with no worries at all. She loved to ice skate and sailed through her exams no problem..
But sadly, no one knew that something was about to change, that she would not be able to carry on skating. There were no signs early on that she would be taking a different direction, Maddi was just a normal teenage girl enjoying her young years, but this was about to be taken from her which causes great sadness for Maddi and our family.
Things began to change
When Maddi turned 14, out of the blue she developed a slight limp that wasn’t bothersome at all. But within a matter of a few months, things began to change, she struggled with her walking, kept tripping up and falling over.
We had no idea what was going on, so we had her assessed by neurologists at Great Ormond Street Hospital. After an MRI scan, it revealed anomalies in her brain, the doctors were not sure of needed to investigate some more to find out what was causing these anomalies. Further tests were being done in the form of genetic testing, we had to anxiously wait weeks as she underwent DNA testing at the Hospital.
Finally the correct diagnosis
The Doctors explained at first Maddi might have a rare fatal condition called Krabbe Disease, but after further testing Maddi was diagnosed with a rare motor neuron disorder – Spastic Paraplegia 15 (SPG15).
We learned that SPG15 is a neurodegenerative disease which can cause severe disability, Spastic Paraplegia in all the limbs and being confined to a Wheelchair in the early years. She could develop Juvenile Parkinson’s as the disease slows down the brain and Degeneration in her eyesight! We were told there was NO cure! At any time her life can be cut short.
“What can I say, she’s always smiling even when she is not having a good day… After being told my daughter had one fatal disease and then later told she had a different diagnosis of another disease I found myself feeling helpless and devastatingly upset, but to see Maddi how strong she has been and how she copes with living with a progressive disease brings me back to reality of what a great girl she is.”
Maddi right now
Today she is working as hard as she can to keep her strength up with physio sessions, sometimes this proves very difficult as the disease is progressing and she can’t always manage to do this.
Researchers believe an experimental Gene Therapy could cure SPG15, as very recent genetic therapies are able to STOP and even REVERSE other similar genetic diseases. We have scientists working very hard to make this a possibility for SPG15 and other similar types of diseases.