Our Story

In 2016 when Maddi was 15, a horrible thing happened. She began to develop scary symptoms that were affecting her mobility, she started walking differently and kept falling over. After a number of tests we were called into Great Ormond Street Hospital to be given the results and ultimately she was diagnosed with SPG15 a type of motor neurone disease that was extremely rare. Our world was shattered!

The Beginning
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 started taking place. We were told that a transplant is not an option for Spastic Paraplegia.

There is not enough knowing about this neurodegenerative condition and it is extremely rare we again sought opinions and more information from more 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 yet to date no cure has been found for any of them!!

At present Maddi is deteriorating with the disease as it has attacked her legs and her arms, she uses walking aids to move around, however this is very wearing for her and needs to constantly rest as pain travels through her limbs. Spasms are regularly happening now which is causing damage to the nerves. She has also started to become very forgetful and cannot retain information like she used to. Her life has completely changed!!

Meet Maddi
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.

Yes, she does question “why me?” Especially when she was going through life enjoying herself doing as many activities as she could like any normal teenager, one of the activities she loved was ice skating having passed many levels she thoroughly enjoyed it but she was unable to carry on once this disease process started, it caused great sadness for her. She has now taken on a new interest in horse riding as this was strongly recommended by Great Ormond Street Hospital as it helps to keep her core strength without causing too much strain on her legs.

Today she is working as hard as she can to keep her strength up and trying to be as physically fit as much as she can manage. As time has gone on we have had to up the amount of PT sessions along with other therapies including weekly sports massage. The Progression is there sadly and we just don’t know how long it will be before it becomes too much for her and is unable to achieve simple tasks that we all take for granted.