News and Events

Ella M. - Plymouth

"Ella, age 17 was born deaf and with learning difficulties. As a Mum I always knew that there was something different about Ella, and her health steadily declined during her childhood.

Mobility problems and pain worsened around age 10, and Ella missed out on her education and friendships for much of her teenage years due to hospital investigation.

Finally, after years of frustrating hospital visits, her X-rays were sent to Great Ormond Street where she received a diagnosis of a rare tubular skeletal dysplasia, and a genetic diagnosis of a rare disease, called Primrose Syndrome.

With only 50 people in the UK diagnosed it has been difficult to find any info, knowledge or support. Typically, it's a progressive condition which affects children in different ways, but almost all are deaf, and have varying joint and muscles issues and chronic pain. Ella spends over half her year in chronic debilitating pain, which is gruelling and has an impact on all the family, often up all night.

We were struggling with pushing Ella in a second hand 16-year-old wheelchair, and Ella was totally dependent on us to push her.

We cannot thank Lifeline4kids enough for their generous donation towards Ella's new powerchair. We had gone through a frustrating process of obtaining an NHS voucher towards a chair, which had taken 18 months, only to find we had to use it within 4 weeks or start the referral all over again!

We still did not quite have enough funds to buy a chair and wrote to a few charities to ask for help. Roger from Lifeline4Kids personally called us the same day, having spotted our application had a time element and Lifeline4Kids pledged the funds for Ella to be able to order the chair!"

The smiley look on Ella's face says it all...

Happy Christmas and good luck for the future Ella x