Penelope’s Story

In July this year we received the devastating news that our youngest Penelope has Metachromatic Leukodystrophy (MLD). A very rare, life-altering and life-limiting genetic condition. This terminal condition is damaging her brain and nervous system, affecting her gross and fine motor skills and cognition. The deterioration will cause muscle wasting and weakness, muscle rigidity, developmental delays, loss of speech, progressive loss of vision and hearing, convulsions and paralysis.

Eventually, a person with MLD will lose awareness of their surroundings and become unresponsive (life expectancy is around 5 years old). Crushingly, Penelope isn't eligible for the life-saving gene therapy treatment as she already has nerve damage. There has been recent progress with new born screening that will give more children the chance to recieve life saving treatment: https://www.facebook.com/share/p/qri6mNw84XJGjQXn/

Penelope is a gorgeous, smiley, happy little girl. She is super affectionate and loves her family, she can't say it but signs 'love you'. We are now focusing on making special memories, especially with her sister Tabitha. Being able to go away to Ben's retreat gives us a chance to spend some quality, happy family time together.