Hi, my name is Siobhan Paris and I am raising funds for my grandson to travel to the USA to see if he is a suitable candidate for any new treatments for his extremely rare genetic condition APCED type 1. He has a younger brother and sister who also have this condition and hopes they may also benefit in the future. The money requested is to cover the cost of the flights, insurance for the trip, some accommodation when he’s not staying in the hospital and other out of pocket expenses for Danny and his carer. The medical treatment will be provided by NIH America who specialise with this rare condition and have helped achieve good outcomes for patients worldwide.

Below, Danny describes how his life has been affected by APCED type 1.

H, II am Danny Paris and I’m 25 years old. I was born with a rare condition when I inherited 2 faulty AIRE genes, one from each parent, called Autoimmune Polyendocrine Disorder Type 1. This condition causes disfunction of multiple endocrine glands as the body attacks its self and all the major organs. From the day I was born it affected my bowels. I had pancreatic insufficiency. I was very poorly and in and out of hospital monthly with ongoing undiagnosed rashes, high temperatures, weakness and other issues. It wasn’t until I was 5 years old that I caught a sickness bug and was in intensive care by that evening. My parents were told I would be lucky to survive as no one knew what they were dealing with. I was put into an induced coma and woke up days later. Things continued to get worse and I was eventually diagnosed with APCED Type 1. I had chronic mucocutaneous candidiasis, auto immune arthritis, vitiligo, hypothyroidism, colitis, Addisons disease, liver issues, and alopecia. More recently I have been collapsing suddenly and currently have a loop recorder fitted to get to the bottom of a heart issue. Since switching over to adult care my health has deteriorated as my new consultants struggle to understand my rare condition. I have no body hair, almost all my body is covered by vitiligo, I am in pain daily in my joints and spend most of my time home bound in my room. I struggle with controlling my bowels, my teeth have no enamel and I have no nails. Over the years I’ve experienced several Addisons Crisis which were terrifying and I still collapse regularly. I am on numerous medications for the rest of my life. I know my condition is life threatening and life shortening. I have been in contact with NIH America for some time who specialise in this area, there are only 200 cases of my particular condition worldwide and they have offered to try to help me with better medications and help my medical team with my future care. I have this opportunity to meet with their team at the beginning of May if I can raise the funds by then. I’m not in a good place mentally and my health is a daily struggle dealing with constant pain and struggling to sleep. Please help me to make this trip to the USA and hopefully find the support and help I desperately need. Thank you for taking the time to read this and I hope you can help me with this fundraiser. Danny Paris