What is mitochondrial disease?
Mitochondrial disease is an umbrella term for a disorder of the mitochondria. The mitochondria are cells in the body that produce energy for organs. Mitochondrial disease means there is a dysfunction in the mitochondria. The severity of the condition dependson how much of the body is affected. The brain is an organ which has high energy demands, so often mitochondrial disease affects the brain’s function. This can lead to problems with the muscles, when the brain can’t send the correct messages to activate them. At BBP, we see superheroes with mitochondrial disease that has affected their nervous system.
People with this type of mitochondrial disease have differences in their movement. This could be high tone or low tone (hypertonia or hypotonia), spasticity (stiffness of the muscle when moved fast), muscle spasms, seizures, or paralysis of muscles. Usually superheroes with this kind of mitochondrial disease worsen over time.
Our superheroes with mitochondrial disease have very different abilities, but they all have one thing in common, they love making physio fun! One of them recently took on a ‘Marathon Challenge’ during the Covid-19 pandemic, and walked 26 miles in her Rifton Pacer walker during the lockdown! What a hero!
How can physiotherapy help?
Physiotherapy intervention varies from person to person, however we usually focus on gross motor skills, positioning, assistive equipment, strengthening and 24 hour postural management.
Gross motor skills
Superheroes with mitochondrial disease usually have differences in which parts of their body function well, and which need more help. This can mean they have a reduced range of gross motor skills due to certain parts of their body not working. At BBP, we use skilled handling techniques to facilitate the affected skills, to enable more complex skills to take place. Ten-year-old Peter has significantly reduced head control, however he can still bear weight through his legs and shows excellent saving reactions with his arms in sitting. Due to his poor head control, this is difficult to see, and his school physio team have suggested lying positions as physiotherapy intervention. However, team BBP are able to facilitate a good upper back, neck and head position to enable Peter to push up through his arms in sitting and extend his knees in standing. The smile on his face the first time was priceless! Using our BBP technique, we are able to continue strengthening Peter’s arms and legs, without his head control getting in the way.
Clever and creative positions work well to both strengthen muscles and encourage motor skills through eliminating gravity and placing the muscles in the optimum position. Some positions are useful for physiotherapy sessions, and others are useful to carry out for long periods of time, for sustained and active stretches. All of our BBP clients have a stretching programme with detailed instructions and a daily and weekly management plan.
Maintaining range of movement
Children with mitochondrial disease can develop muscle stiffness, due to the wrong messages being delivered to the muscles. This can cause other problems later down the line, such as a poor sitting position, leading to scoliosis, pain and discomfort. At BBP, we have developed our own range of movement assessment, based on years of experience with differently abled superheroes. We monitor all of our mitochondrial superhero’s ranges of movement very closely and put interventions in place when needed. If our interventions are not enough, we work closely with paediatricians, neurologists and the wider team to consider Botox and tone reducing medications.
24-hour postural management
24-hour postural management is vital for children with mitochondrial disease. We know all of the best equipment suppliers, and can organise trials, measure, assess and fit home equipment. We understand that all children with and without disabilities have a range of seated positions every day. Sometimes children sit on a chair for participation in learning, and a straight back, other times are for relaxing on the sofa. We do not believe in a ‘one seat fits all’ approach and strive to achieve the perfect balance between relaxing and in a symmetrical posture, and sitting upright for learning, eating and concentrating.
Function and participation
All of our mitochondrial superheroes are set short-, medium- and long-term goals, specifically designed to meet their favourite functional tasks. Peter told us with eye pointing, that he wanted to push his cars down the ramp in his toy garage. But he didn’t want to do it in lying, or sitting, he wanted to STAND! Way to go, Peter!
Contact us to find out how we can help your superstar with mitochondrial disease!