Rare Disease Day

Today is rare disease day. I was asked today, as I am most days, whether Ava's treatment is working. The doctors say it is. But the questions still come, because Ava is indeed very unsteady on her feet, quieter in her speech and generally much slower to respond. Yet she is still walking, talking and answering the same questions that she could a year ago. Compared to so many other children battling MLD, and other rare diseases, she is unquestionably in a much better position. Whilst the treatment may take time to become effective, we are ever grateful for the second chance which Gene Therapy has given Ava. Today we are thinking of all of the children who have not been so fortunate. Today we are thankful for everyone who has donated money towards research into, and support for, rare diseases. Today we salute all of the people who have dedicated their lives to finding cures for these monstrous illnesses.