Rachael is 22 years old and was diagnosed with the mitochondrial disorder RRM2B when she was around 15. The diagnosis came after years of tests after tests, most of which were painful and distressing. In some ways it was a relief to get the answer as to why things kept going wrong for Rachael. She became deaf quite suddenly at the age of 7 and was weaker than others the same age.

However, we were told that there was nothing that could be done and that Rachael would only continue to deteriorate. Rachael now uses an electric wheelchair, has bilateral cochlear implants, is fed intravenously and is ventilated at night. She's had a dreadful time in the last year contracting life-threatening sepsis and her thyroid became so hyperactive she was hospitalised for three weeks. She is now completely wheelchair bound, unable to transfer herself and completely reliant on her family to move.

Sadly, JoJo, her 16-year-old brother was diagnosed with the same condition when he was 12.

However, there is hope. Treatments are currently in development, including nucleoside therapy, which is giving Rachael the strength to keep fighting. Rachael would love the opportunity to try this treatment and there is a Doctor in Italy who may be able to give her this potentially life-saving treatment. We are raising money for everything we need (travel, accommodation, treatment) to give Rachael the chance to benefit from nucleoside therapy and hope to give her a much better quality of life.