CD40 Ligand Immune Deficiency
Kyle Smal's life is in danger from a genetic condition found in only one in a million male births. He suffers from CD40 Ligand deficiency, an immune deficiency disease that makes him extremely vulnerable to severe infections. Kyle's lungs and liver are already badly damaged.
Gloria Van Staden, Kyle's mother, explains "Kyle's immune system isn't functioning as it should, so what's a normal cold or flu to you and me is very serious for him".
Without treatment, Kyle has been given a two year life-expectancy. Now, Great Ormond Street Hospital has offered hope of a cure. A bone marrow transplant could provide new cells to create a healthy immune system and allow Kyle to live a normal life, but the risks are very high. The transplant process itself could prove fatal.
Kyle's consultant is Paul Veys "We've given him a 50% chance of success, which is not very good. Of the 50% that could go wrong, we've given him a 30% chance that it could go really wrong and there's the remaining 10 or 20% chance that he survives the transplant but rejects the new cells".
Kyle was born and spent his early life in South Africa. There the symptoms of his infections were treated, but the underlying cause was not diagnosed until he came to Britain and Great Ormond Street.
Paul Veys considers his position "Ideally, we need an early diagnosis so we can do the procedure while the child is still relatively well. It's a much more difficult procedure once the child becomes sick. Sadly, with Kyle, he's now seven, it was some years before a true diagnosis was known".
Kyle and Gloria have come to Great Ormond Street because a matching, volunteer donor has been found. They've decided to go ahead with the transplant with the full knowledge of the dangers involved.
Great Ormond Street Hospital is the largest paediatric bone marrow transplant centre in the country, carrying out around seventy transplants a year. Most of them use bone marrow from anonymous, unrelated donors. Only ten children with Kyle's condition have been treated before and Kyle is the most vulnerable of all of them, but Kyle's fighting spirit reassures Paul Veys "We've found, over time, that the children who are more difficult to contain, the little fighters, tend to do well".
Before the bone marrow arrives, Kyle's body needs to be prepared to receive the new cells using chemotherapy. Because Kyle's lungs are so weak after constant infections, he cannot withstand the powerful chemotherapy that would normally precede a transplant. Until recently, this would have ruled out a transplant altogether. Paul Veys will be using a new, experimental technique to keep the chemotherapy to a minimum.
He explains "It's made up of two very gentle drugs with few side-effects. The rest of the treatment is made up of monoclonal antibodies, like magic bullets, to do the remainder of the work".
One of the medicines is Campath, given intravenously to break down the immune cells. Kyle's own bone marrow will be partially removed by the chemotherapy to make room for the new donor cells. His immune system will be weakened to prevent rejecting the new cells. This means he will be extra vulnerable to, potentially, life-threatening infections.
The bone marrow is due to arrive in ten days. How Kyle responds to the first twenty four hours of chemotherapy will be crucial.
Kyle has fought back and after the twenty four hours is well enough to be moved, with mum Gloria, to a special isolation ward where they will have to live for the next month. Access to the isolation ward is strictly controlled and the air is filtered to minimise the risk of infection. Only Kyle's parents and essential staff will be allowed into his room.
Eventually, the bone marrow arrives at Heathrow, where it's been flown in from Germany where the anonymous donor lives.
Gloria Van Staden
Kyle's chemotherapy is complete. Now the bone marrow will be introduced into his blood via a drip. This stage presents new risks. The donor cells could fight Kyle's own cells and attack his weak liver and lungs, putting his life in danger.
After two and a half weeks, Kyle and Gloria receive some good news. Neutrophils are the white blood cells that defend the body against infection and Kyle's are back to a healthy level. A few days later Paul Vets has less welcome news "At the first look we're not seeing any donor cells at the moment. Sometimes we see very few in the early stages. Because we used only weak drugs there's still a lot of Kyle's own cells there. So what we'll do is stop one of the protective drugs".
Three days later, after much thought and discussion, they decide to go home, moving Kyle, at first, into his local hospital in Stafford. There's still a slim chance that the donor cells will appear in the next few weeks.
A month after Kyle came home, the family receive the results of the final tests to determine whether any donor cells are present in Kyle's blood. Gloria informs us "Basically, the bone marrow transplant didn't work. His immune system is very close to where it was before they started the chemo".
Gloria and Dan won't take any unnecessary risks with Kyle's health. They want him to have some fun and make the most of the time he has left.
CREDITS: All of this information came from the UK Channel 5 "Child in a Million" documentary series