Hi my name is Cavan and I live in Bodmin Cornwall my mum Debs and sister Maeve also comes from Cornwall, my Dad comes from Sydenham Belfast in Northern Ireland. I go to Bodmin Infants School Iam five years old my Birthday is 26th December 2008. I have been in hospital for some time now I first went into Trelisk Hospital in Cornwall as they thought I had glandular fever but I had to be transferred to the Children's Hospital in Bristol, since being here I have been very unwell and have had to go through lots of blood tests to try and find out what is wrong with me at one time my doctors give me only 48 hours but as you see from my photo I can now sit up I have been getting loads of Chemotherapy and this has made me very unwell my doctors say that I have XLP,HLH,EBV,
XLP only affects the males in the family and is passed on from the mother XLP is extremely rare and only about 100 families with XLP are known to exist worldwide. It is likely, however, that there are many individuals whose disease is at yet unrecognised ,XLP can have many different symptoms, we do not know what the full spectrum of the disease is, we think the immune system in XLP is unable to cope with some viral infections in particular the Epstein Barr Virus (EBV), the immune system loses its normal tight regulation and starts to malfunction. About a third of patients have a very severe episode of glandular fever, another third develop a cancer of their blood cells (Lymphoma) and another third have low levels of immunoglobulin's, the proteins in the blood that help fight infection. More rarely,patients may have a severe form of anaemia or inflammation of the small blood vessels (vasculitis) it is common for one individual to have several different symptoms over the course of the illness
Severe glandular fever, Lymphoma-patients may be tired,anaemic and develop swollen glands,Hypogammaglobulinaemia(low levels of immunoglobulin's)-patients may get frequent infections. The cause of the condition was only found in 1999,so there is much we do not understand about it .It is caused by a mutation (mistake) in one of the genes on the X chromosome.This means the cell does not get the right instructions it needs to work properly. In most families the mistake is in a gene called SH2D1A this gene normally makes a protein called SAP. Mistakes in the gene cannot be found in a number of people with the disease, and we are working hard to find out which gene is responsible in these families (Great Ormond Street Hospital For Children NHS Trust) Primary Immunodeficiency Association Alliance House 12 Caxton Street London SW1H 0QS Helpline 020 7976 7640 Website :www.pia.org.uk
What is hemophagocytic lymphohistiocytosis?
Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder primarily affecting young children at a very early age, but it is found in patients of all ages. Although physicians have written about the disorder over the years, it has only been recently that it has received much attention.
In 1985, physicians from all over the world, interested in studying the histiocyte and disorders related to this cell, formed the Histiocyte Society. Thanks to their work and the financial support of the Histiocytosis Association of America, we understand the disease better and have improved treatments. However, this disease remains difficult to fully understand and difficult to treat.
The human body contains many types of cells which help fight infection. One type of cell is called the histiocyte. Histiocytes are produced by the bone marrow, and they may travel throughout the body. At a later stage, these cells remain in place within various tissues in the body. Their job is to help destroy certain foreign materials and to fight infections. This is done in cooperation with other important cells.
Patients with active HLH have too many of these histiocytes, as well as lymphocytes (another kind of infection-fighting cell), both of which are so-called white blood cells that may cause inflammation (swelling, redness, heat, pain, and loss of function). These cells then begin to penetrate and accumulate in good tissue and can cause damage to a variety of organs. Some possible sites of involvement include:
bone marrow
lymph nodes
liver
spleen
skin
membranes surrounding the brain, spinal cord or, more rarely, the brain itself
What causes this disease?
Scientists do not yet know all the complicated processes involved in this disease.
There are two major forms of HLH. One, known as the primary form, is inherited. The other is known as the secondary form. In the secondary form, the disease develops secondary to inappropriate (abnormal) activity of the immune system. This can occur after the use of immunosuppressive therapy and/or infections.( Histiocytosis Association of America)
