The Beginning of Cavan's Nightmare of Rare Disease Our Little Grandson

In October 2008 my family was rocked by rare disease – not one but two rare diseases. Until this time we had hardly been inside a hospital, but little did we know how much our lives were about to change. We, that is my husband, daughter, son and I could never have imagined that we were about to embark on a nearly 12 month journey which saw us stay in Bristol, away from our home, family and friends and we could never of imagined the things that we were about to experience and I can assure you that I would never wish any of those experiences on anyone, anywhere.


It started when my son, Cavan, became ill with what was thought to be a common virus. However, he did not seem to be able to fight this virus and soon we were admitted to our local hospital where he was diagnosed with Glandular Fever. Cavan showed little signs of improvement but our local hospital were unable to give a firm diagnosis. His bloods were taken on a daily basis and then started to be sent to both GOSH and Bristol Royal Children's Hospital. After a few weeks as an inpatient he was transferred to Bristol RCH where we were informed that Cavan had a rare disorder EBV HLH (which is the Epstein Barr Virus that in turn triggered Hemophagocyctic Lymphohistiocytosis). Like the majority of you here today I and the rest of the family had never heard of this disorder.
In layman's terms this meant that instead of Cavan's blood fighting off infections and protecting him it actually turned on him and caused damage to his liver, kidneys and more importantly his brain. He suffered two major seizures in quick succession and was admitted to ICU. At this stage we were informed that Cavan had only 48 hours to pull through and that it was not looking very positive. Inevitably we had to inform our families that our son was probably not going to survive and they all rallied around to say their goodbyes. Our families from Northern Ireland and Cornwall travelled to be at his side. But he did pull through but only to be dealt a second blow.


Our Consultant in Bristol had the task of informing us that Cavan had been diagnosed with yet another rare disorder XLP (x-linked Lymph proliferative Disorder or Duncan's Syndrome). To date it is currently known that XLP affects approximately 100 families worldwide. It affects the boys and is passed or carried by the female through one of the x chromosomes. It is a relatively newly discovered condition, in 1998, so obviously there is still so much to be learnt about this condition.
XLP can take many symptoms including severe Glandular Fever, lymphoma (cancer of the blood) and the inability to fight infection (breakdown of the immune system) and sometimes anaemia. 70% of the affected individuals with XLP do not get to see their 10th birthday unless they are treated. Currently the best prevention is regular top-ups of anti-viral medicines, immunoglobulin therapy or steroids. However, all these are not cures. Currently the only possible cure is a bone marrow transplant which in effect replaces the faulty immune system.


At one stage Cavan became so ill that at the age of 6 he weighed just 30lbs and had severe muscle wastage which left him immobile and returning to infancy, for example wearing nappies and being fed intravenously. But despite all this Cavan is a fighter and he battled through and tackled every hurdle he faced. He pulled through, and on Good Friday last year, he had his bone marrow transplant. He has been through chemotherapy, conditioning therapy, rigorous physiotherapy, had a wheelchair and disability buggy, a Childs Zimmer frame, casts on both legs – as I say my very own Forest Gump!
We are so far the lucky ones. You never know when a rare disease may affect you or the ones you love. We as a family have faced not one but two rare diseases. We went from a regular/average family to a family lost in a world of blood counts, medicines and terminology. We now, even my daughter at the age of 13, know more about the hospital environment than we care to mention but we are survivors.

We have made friends with families that would never have crossed our path and unfortunately not all of our friends have made it but we are better people for having met them and shared experiences with them – we will never forget them.
We, that is all my family and The Cavan Tommy Hoey Trust (Ireland) would like to thank everyone for their support, generosity and kindness that they have shown over the last year, in asking after Cavan’s health and donating to his fund. We also thank Belfast City Council, George Best Belfast City Hospital and Belfast International Airport for their kindness in raising funds and giving Cavan special days to remember for the rest of his life.
The Trust will work to help other children and their families who are fighting rare diseases, we hope to work closely with Dr. Fiona Stewart from Belfast City Hospital to find a way the Trust can help. We will also never forget Bristol RCH and Cavan's team of Dr’s lead by Consultant Colin Steward, who we owe so much to for Cavans progress.


We thank CLIC Sargent who for nearly twelve months provided us with a home from home, social worker, outreach nurses and various other assistance in our time of need and they continue to help us today. We would like to work with CLICsargent to help find a way the Trust can help with their fight to give parents and their children a place to call home while their loved ones undertake treatment in hospital.
The Trust will continue to work to help Cavan and other children suffering from rare diseases and we will become the voiced of rare diseases on behalf of the children who cannot fight for themselves. We ask you as representatives of government to help us make rare diseases a priority. In closing now I would just like to say that it is imperative that we support rare disease organisations and charities and help raise awareness in order that other families may not have to go through the traumas that we have and hopefully potential cures can be found for these conditions.