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Ella is 8 years old. She turns 9 this May! Ella has been a member at FirePower Kids since September 2014. When we first met Ella, she was a "Mighty Mini". She was quiet yet an active young girl; running, jumping, climbing, crawling, and always smiling. Then, Ella suddenly started to show signs of weakness in her legs. Her gait changed, she tripped more, started to fall when walking - constantly scraping her knees and having issues getting off the floor, going up stairs and riding a bike.
Ella has been diagnosed with a rare degenerative Motor Neuropathy/Neuromuscular disease. In the 4 years since beginning to show signs of weakness she has seen numerous specialists and had many tests. She has had genetic testing for HSP, Spinal Muscular Atrophy, MRI of her bran and spine and blood work for Muscular Dystrophy. All results came back inconclusive or negative. She also had Botox injected into her calf muscles which seemed to make her weaker.
In 2017, she had Whole Exome Sequencing after numerous unsuccessful tests the past few years. They found a mutation that they believe could be the cause of her progressive weakness in both her upper and lower extremities. However, to date they have no documented cases similar to hers with this mutation, it remains very rare. They believe her condition resembles Charcot Marie Tooth and Hereditary Spastic Paraparesis. In Feb 2018 she had both her legs cast from the knee down in hopes that this will help the extreme supination in her feet and possibly give her a little bit of mobility that remains.
Ella's disease has progressed rapidly. She now needs a wheelchair or walker to get around most of the time. A stairlift has been installed in her house, so she can get upstairs. Her upper extremities and core muscles are also starting to show more weakness as time goes on.
She is a very determined little girl but this has certainly affected her emotionally in many ways as she remembers being able to run around with her friends a short time ago. She doesn’t understand why this is happening to her.
Let's show Ella and her family our support!
Ella and her family have wished for a Wicyle (https://www.wicycle.com/products/forspecialneeds). Funds raised will go towards the WIKE Bike for Ella and her family to keep them active and making fitness FUN!
Ella has been diagnosed with a rare degenerative Motor Neuropathy/Neuromuscular disease. In the 4 years since beginning to show signs of weakness she has seen numerous specialists and had many tests. She has had genetic testing for HSP, Spinal Muscular Atrophy, MRI of her bran and spine and blood work for Muscular Dystrophy. All results came back inconclusive or negative. She also had Botox injected into her calf muscles which seemed to make her weaker.
In 2017, she had Whole Exome Sequencing after numerous unsuccessful tests the past few years. They found a mutation that they believe could be the cause of her progressive weakness in both her upper and lower extremities. However, to date they have no documented cases similar to hers with this mutation, it remains very rare. They believe her condition resembles Charcot Marie Tooth and Hereditary Spastic Paraparesis. In Feb 2018 she had both her legs cast from the knee down in hopes that this will help the extreme supination in her feet and possibly give her a little bit of mobility that remains.
Ella's disease has progressed rapidly. She now needs a wheelchair or walker to get around most of the time. A stairlift has been installed in her house, so she can get upstairs. Her upper extremities and core muscles are also starting to show more weakness as time goes on.
She is a very determined little girl but this has certainly affected her emotionally in many ways as she remembers being able to run around with her friends a short time ago. She doesn’t understand why this is happening to her.
Let's show Ella and her family our support!
Ella and her family have wished for a Wicyle (https://www.wicycle.com/products/forspecialneeds). Funds raised will go towards the WIKE Bike for Ella and her family to keep them active and making fitness FUN!
Organizer and beneficiary
Gina Northcott
Beneficiary