Martina was born in June 2016 and diagnosed Angelman Syndrome a year later, on her first birthday. I am going to run 700km from now til the end of Summer Term (14th July) and raise funds to support my friends and Martina.

Angelman Syndrome is considered a rare disease, therefore, it is difficult to treat so therapy is needed. With this challenge, I want to help my friends, Miriam and David, with the treatment and raise awareness of rare diseases.

See below the definition of Angelman Syndrome by NHS:

Angelman syndrome is a genetic disorder that affects the nervous system and causes severe physical and intellectual disability.

A person with Angelman syndrome will have a near-normal life expectancy, but needs looking after for the rest of their life.

Characteristics of Angelman syndrome

The typical characteristics of Angelman syndrome aren't usually apparent at birth.

A child with Angelman syndrome will begin to show signs of delayed development at around 6-12 months, such as being unable to sit unsupported or make babbling noises.

Later, they may not speak at all or may only be able to say a few words. However, most children with Angelman syndrome will be able to communicate using gestures, signs or other systems.

The movement of a child with Angelman syndrome will also be affected. They may have difficulty walking because of problems with balance and co-ordination (ataxia). Their arms may tremble or move jerkily, and their legs may be stiffer than normal.

A number of distinctive behaviours are associated with Angelman syndrome. These include:

frequent laughter and smiling, often with little stimulus

being easily excitable, often flapping the hands

being restless (hyperactive)

having a short attention span

problems sleeping and needing less sleep than other children

a particular fascination with water

By around two years of age, an abnormally small head which is flat at the back (microbrachycephaly) will be noticeable in some children with Angelman syndrome. Children with Angelman syndrome may also start to have seizures (fits) around this age.

Other possible features of the syndrome include:

tendency to stick the tongue out

crossed eyes (strabismus)

pale skin, and light-coloured hair and eyes in some children

a wide mouth with widely spaced teeth

a side-to-side curvature of the spine (scoliosis)

walking with arms in the air

Some young babies with Angelman syndrome may have problems feeding because they're unable to co-ordinate sucking and swallowing. In such cases, a high-calorie formula may be recommended to help the baby gain weight. Babies with Angelman syndrome may need to be treated for reflux.