Unfortunately the second part of the trial did not take place. The clinical endpoint was to have been walking ability, which was the only thing they could measure. This meant that it would have needed to be a double‐blind multi‐centre trial with 100 patients, over two years. There was not enough funding . This was very disappointing. However they did want to see patients, including Roy and Murray on an annual basis to monitor the course of the disease. Later we heard that they were close to identifying the gene for NPC but needed blood samples from families with two or more children. We all gave our blood and we sent letters to all of the families we knew in the UK with two or more children, giving instructions on how the blood should be collected and shipped to the NIH. They all sent their blood!
The difficulties with not having a suitable marker that could use to measure whether a therapy was working, led to another small clinical study involving just three young adult patients. This was conducted by Dr Chuck Schwartz in Richmond Virginia. Roy agreed to take part.
It involved having a tube inserted through his nose into the upper bowel to collect bile every two hours and two‐hourly blood tests. The aim was to measure the size of the cholesterol pool in the body. The only difficult part for Roy was that he was not allowed anything to eat all day! At the end the nurses presented him with a chocolate cake! They had heard that it was his birthday next day. Roy was delighted!
It was good to be home again but we were realising that time was running out for Murray…
It was good to know that the research was progressing but unfortunately so was Murray’s disease and time was running out. In October 1996, Murray, our wonderful, funny, amazing son, died. He was 18 years old. The doctors had been right in saying that he would not live beyond his teens. No amount of research could help Murray now.
Our family’s journey with Niemann-Pick disease continued and there were many joys and challenges to come…
