Kristy’s story: HTLV-1

What is HTLV? HTLV stands for Human T cell Lymphotrophic virus. It is a retrovirus that infects a type of white blood cell called a T-cell or T-lymphocyte. HTLV-1 can be passed on through infected fluids, including blood, semen and breast milk. It can cause diseases (HAM/TSP – HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis) which affect the […]

One in a million – Cyclical Neutropenia

Guess what, you’re one in a million! When someone tells you that you’re one in a million, it’s usually a good thing… unless it’s a doctor diagnosing you with the rare blood disorder Cyclical Neutropenia. This happened to me one afternoon in July 1998 and my life changed forever. Cyclical Neutropenia is a disorder of […]

Gianna’s story – Not just one rare condition

During our NICU (neonatal intensive care unit) stay I couldn’t help but look around at all the little premature babies that surrounded us and think just how big Penelope was. She was a very healthy 8lb13oz. One of her ‘neighbours’ was barely the length of her legs, but they all had one thing in common […]

Natalie’s Story – Autoimmune neutropenia (AIN)

I hope that my story will give you a small insight into the journey of living with someone with a rare disease. Isla was nine-and-a-half months old when she was first admitted to hospital. I had to call an ambulance when her breathing seemed to take a turn for the worst and she hadn’t stopped […]

Philippa’s Story: Living with Superior Semicircular Canal Dehiscence Syndrome

I have Superior Semicircular Dehiscence Syndrome (SCDS) which is a balance disorder. The developmental anomaly, present in 1-2% of the population, occurs during the first three years of life, and is thought to be caused by a lack of bone growth in the uppermost balance canal of the inner ear, which can cause a tiny […]

Patient Experiences

We asked patients a few questions about what it was like living with a rare disease. This is what they told us. “The thing I have found most helpful is the huge well of help, advice and support from others who are battling their own rare diseases. We truly are stronger together. And together we […]