All for Amelia

Hi I’d like to introduce you to my niece Amelia, a beautiful, brave, happy little girl with the brightest smile.  In april 2020 a month before her 7th birthday my brother JP and his partner Samantha received the devastating news that Amelia is suffering from a rare genetic brain disease for which there is no cure.  She was diagnosed with Juvenile Metachromatic Leukodystrophy or MLD for short.

MLD is a life limiting illness. It is a rare genetic degenerative disease which results in loss of motor skills such as walking, moving, speaking and swallowing, loss of intellectual, thinking and memory skills, stiff rigid muscles, paralysis, seizures, blindness, hearing loss and dementia and eventually death. If a person is diagnosed with MLD before they begin to display symptoms they can be treated. Gene therapy or bone marrow transplant are options these treatments will help to slow down the progression of the illness but they are only effective if you are pre symptomatic and they will not cure the disease.  In Amelias case her diagnosis came too late for her to receive treatment.

Amelia was born a healthy baby and reached all milestones like any other child. At the age of 4 she started to have an issue with her gait that was effecting her right leg. Dyspraxia was suggested as a possibility.  In 2019 Amelia was having more falls than what would have been expected and walking was becoming more difficult for her.  In November that year she was referred for a MRI which showed abnormalities in the white matter of the brain.  She was then referred to Temple Street Children’s Hospital for further testing and it was a genetics test that eventually confirmed MLD.

Within the short time from her diagnosis Amelia has already lost the ability to walk, move, talk and swallow. She is now tube fed and requires 24hr care.  Her medical needs will become more complex as the disease progresses.

Prior to her illness Amelia was a funny, laid back loving little girl who loved nothing more than winding up her sister and brother Louisa and John. She has always had a great love for animals especially dogs and previously said she would like to be a vet. The possibility of a companion dog was looked into but the waiting lists are over 10 years.

There is sadly no cure for this disease but her family are doing everything they can to make sure that she is happy and has many memories and smiles for the duration of her journey. Despite the help that they receive from the HSE and Lauralynn an awful lot more resources are required to help Amelia to be comfortable and make the best of her days. Some of the basics are provided but there is a lot more needed,

The reason for this fundraiser to be able to support Jp and Samantha to give their precious child Amelia the attention and care she needs and so deserves. And also for them to make some wonderful memories together as a family.

It is heartbreaking that Amelia or any other child for that matter is suffering with this disease.  However, any support at all is deeply appreciated it will go a long way to help keep Amelia comfortable and keep that beautiful smile on her face.

Thank you for taking the time to read her story.