Penelope's MLD journey

This is difficult to write but I wanted a place to share Penelope's story and raise awareness of her condition. Friends and family have asked if they can do anything so hopefully this will create a place for that.

Penelope has been diagnosed with Metachromatic Leukodystrophy (MLD). A very rare, life-altering and life-limiting genetic condition. 'MLD is directly caused by a deficiency of the enzyme Arylsulfatase-A. Without this enzyme sulfatides build up, eventually destroying the myelin sheath of the nervous system. The myelin sheath is a fatty covering that protects nerve fibres. Without it, the nerves in the brain and the peripheral nerves cease to function properly' (MLD association).

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. The ability to take food by mouth will be lost, due to loss of control swallowing and she will require a feeding tube into her stomach. Eventually, a person with MLD will lose awareness of their surroundings and become unresponsive.

We have been told that the most rapid deterioration will happen over the next year between the ages of 2-3 years. The expected rate of progression of MLD varies from person to person, there will be periods of faster disease progression and periods of relative stability, however these are difficult to predict.

Penelope has the most aggressive form of the disease 'In late-infantile MLD, after a period of normal growth and development, children experience difficulty when crawling or walking, usually at 15-24 months. Further deterioration then occurs, Most children with this form of MLD die by age 5.' (MLD association) Crushingly, Penelope isn't eligible for the life-saving gene therapy treatment as she already has nerve damage.

The specialists can't say how long we have left with Penelope, just that we should make the most of our time with her and do as much as we can whilst she is still mobile and strong enough.

Penelope is a gorgeous, smiley, happy little girl. She loves playing with her babies, looking through books (especially ones with flaps) her absolute favourite is music and doing the actions to her favourite songs. Penelope loves being out and about and taking in the world around her. She really enjoys being around animals and having cuddles with them. She is super affectionate and loves her family and although she struggles with her words has learnt to sign 'love you'.

We are heartbroken but need to make the time we have left with her as happy and memorable as possible and create special memories with her sister Tabitha. It is very likely we will require additional equipment or adaptations to support her along the way to keep her happy and comfortable. We want to take her places and do things, so she can experience as much of life and the world as possible. I'm hoping to raise some funds to help with this.

Here is a link to the MLD association website for more information. Many medical professionals, parents of children lost and parents currently going through this awful disease are lobbying for heel prick tests at birth. If this condition is caught early, before any damage is done then more children can have life saving gene therapy.

https://www.mldsupportuk.org.uk/