1 year on and we have some answers:-
We met with Evan's consultant on Friday at Alder Hey following news that they had found a genetic mutation responsible for his HLH.
Following his death last year our consultant continued to fight for 'full' genetic testing to be done on his DNA. Evan had been 'screened' for genetic mutations 4 times throughout his illness and on each occasion the results had been negative and therefore full genetic testing was deemed not necessary. On the 15th of August she finally won her fight to get Evan full genetic testing despite all his screening results being negative as her belief was that his disease was a genetic form. So full genetic testing began at Great Ormond Street hospital in London. On the 22nd April this year (his 5th birthday) they found and reported a diagnosis of XLP type 2. (X-linked lymphoproliferative disease or X-linked familial hemophagocytic lymphohistiocytosis) It took them 8 months to find this, genetic testing is very complex, difficult, expensive and only by means of ellimination can they find a mutation if one exists. Hense the fight our consultant had to get this done for Evan.
I will try to simplify and explain what this means. XLP is a disorder of the immune system. It means that Evan produced abnormally large numbers of the natural killer cells that our immune systems produce to fight infection and virus's. This leads to a reaction called HLH that causes fever, destroys blood producing cells in the bone marrow, damages the liver and attacks other organs and tissues within the body. It truly is a horrible disease. Undetected it will kill in a matter of weeks. HLH is what they knew Evan was suffering from but they didn't know why. To try to hold the disease they use Chemotherapy, steroids and immune supressants to kill off some of the killer cells doing all the damage until they can get the patient stable enough to transplant as this is their only hope of survival. Normally when we produce killer cells they only live for a few days in our body and die off, However the mutation that Evan had protects the killer cells so that they do not die off and continue to multiply and destroy. Unfortunately over the past 2 years very few HLH patients have successfully come through transplant, something that is not yet understood, for some reason when transplanting the effect it has on the liver and gut in HLH patients seems increase in severity. They transplant many leukemia patients without issue and have not yet found out the differerence the transplant procedure has on the HLH patients, only more research, questioning, learning, trying will lead to answers.
Updated on Oct 23rd 2012 at 7:26 PM from the JustGiving API
HLH took our son away from us. The reason Evan got it is unknown. Our hope is that more research would result in more answers, more treatment options, more recognition and funding to tackle this hateful disease.
Always in our thoughts, Forever in our Hearts.
Evan Russell Manning
22nd April 2008 - 29th May 2012.