Naomi House & Jacksplace are hospices for children and young adults with life limiting conditions and life threatening conditions.The charity provides care to people living in communities across the seven counties of central southern England.The charity has two specialist units: Naomi House for children, and Jacksplace for teenagers and young adults. Each unit offers an appropriate environment for each age group. Services offered include respite care, emergency care, end-of-life care and ongoing bereavement support.We seek to raise £9.2 million to run the two units each year, with less than 11% of income coming from the Government and other statutory bodies. As a result, we rely on the generosity of people in the community like yourself to continue its work. Your support enables the charity to provide these crucial care services, free of charge, to children, young adults and their families, so thank you!

My nephew Olly was born on  23rd July 2013 with a condition called H-ABC.

Hypomyelination with atrophy of the basal ganglia and cerebellum, also called H-ABC, is a rare genetic disorder that progressively damages the nervous system. It specifically targets two parts of the brain: the basal ganglia and the cerebellum, which control the body’s actions and movement.

H-ABC is a type of leukodystrophy, a group of conditions that affect the white matter of the brain. These diseases damage the myelin sheath, which surrounds and protects the nerve cells in the brain and spinal cord and speeds transmission of messages between cells.

The process of the body forming this protective myelin sheath is called myelination. Typically, myelination develops in the first few years of life. In H-ABC, there is hypomyelination. Hypomyelination means that the body is unable to produce myelin at normal levels. This prevents the body from completing normal myelination of the brain, and in some cases, the nerves outside the brain.

The condition also reduces the size and function of the basal ganglia and the cerebellum. As a result, people with H-ABC often have motor problems, including stiffness of the muscles and joints, low muscle tone, difficulty with controlling movements, and problems with balance and coordination.

H-ABC is caused by a mutation in the TUBB4Agene.

In most genetic disorders like H-ABC, a gene mutation is inherited from your parents. H-ABC, however, is usually not inherited from a parent. Instead, the change in the TUBB4Agene is typically a random mutation in the person who develops the condition. In these cases, neither parent is a carrier, and the chances of having another child with the disease is extremely low. There is a small chance that one parent may carry the mutation in some cells (mosaicism), which means that they would not have symptoms but still be able to transmit the disorder to other children.

There are about 150 known cases worldwide.