Maxwell has a rare medical condition called thymidine kinase 2 deficiency syndrome (or TK2d). It is a genetic disorder that causes progressive weakness of the bodys muscles (myopathy).
Thymidine kinase (TK for short) is a substance that helps vital biochemical reactions to happen within the cells of our body. TK is present in two forms in: TK1 and TK2.
TK2 enables mitochondria (pronounced my-toe-con-dree-ah) to do their job.
Mitochondria is the energy factory of our body. There are several thousand mitochondria in nearly every one of our cells. Their job is to process oxygen and convert substances from the foods we eat into energy.
In fact, mitochondria produce ninety percent of the energy your body needs to function. However, in TK2d, mutations (abnormalities) in the genetic code that produces TK2 leads to mitochondrial disease.
It is unclear why TK2 genetic mutations typically affect just muscle tissue, but the high energy demands of muscle cells may make them the most susceptible.
Maxwell became ill at nine months old, firstly with Tonsillitis, which he was treated for in hospital. While recovering, Maxwell had a nasal gastric tube inserted into his stomach for feeding. Unfortunately his last feed was rushed resulting in him choking and filling a lung with milk. The aspiration along with infection was the catalyst to activating his mitochondrial disorder. The result switched off seventy per cent of his muscles instantly.
Maxwells TK2d has also weakened the muscles which control his eyes, causing droopy eyelids which severely affects his vision. His view of the world is strictly limited.
Maxwell is totally dependent on others in every aspect of daily life. He is supported by twenty-four-seven love and attention by family, friends and an amazing care team, but we want to ensure he has the best quality of life and wish to give him all the equipment and treatments that will ensure he enjoys his life to the full. To do that we need to ensure he has specialist physiotherapy lessons, a new bespoke chair, and a hydrotherapy pool.
Maxwell loves the water! It is the one place where his body is neutrally buoyant, enabling him to slightly move his arms and legs. Maxwells family dream of him having his own accessible infection free hydrotherapy pool on their specially adapted patio looking out on the South Downs. The patio is ready and £35,000 for a specialist pool will make a dramatic difference to Maxwells life.
Maxwell has an excellent NHS care team but their time is limited. £7,000 will fund specialist neurological physio sessions for a year. These will make a significant difference to Maxwells muscular weakness and core strength. A further £20,000 will buy Maxwell a specialist wheelchair that would enable him to sit upright move independently and let him lay completely flat for toileting and emergency treatment.
We hope you will support us in our campaign to raise vital funds to ensure that Maxwell can live a fulfilling life, and aim for a brighter, mito future.