Myelodysplasia: a devasting bone marrow disorder

Jesse Richards sounds perky enough. Strapped into his mother's car, the six-year-old asks why no one is doing anything about global warming. But look at him, and you see an altogether different child. A handsome chap, his skin is nevertheless the colour of milk. In three days' time he will have to undergo his tenth blood transfusion in 13 months.

There is much more discomfort to come. In January, Jesse will undergo a bone marrow transplant as he suffers from myelodysplasia (MDS), sometimes known as pre-leukaemia, a disease that is extremely rare in children. One of around only three children a year to be diagnosed with the condition, an abnormality of the bone marrow which affects the production of healthy blood cells, it has thrown the family into turmoil.

Jesse's father has had to give up work to look after him at home, as he was picking up too many infections at school, and the family has consequently had to move to a smaller house in their home town of Brighton. At one stage, Jesse's distraught mother even asked to see his bone marrow biopsy in order to be convinced that the transplant procedure was really necessary.

Jesse has suffered from health problems since he was just a few weeks old. He was born at a good weight but initially failed to thrive. When he was put onto solids he would vomit for hours. His parents, Claudia Meynell, 44, who owns a children's gift shop and website, and Derek Richards, 43, an IT consultant, would rush him to A&E. Always very sickly, he would pick up countless infections, which would make him cough so much he would throw up. At the age of four, after coughing almost continually for a month and failing to keep any food down, he ended up in A&E again. Yet every time he underwent tests nothing too serious was discovered, apart from anaemia and a low white blood cell count. The family got on with their lives and hoped for improvement.

Jesse was the smallest in his class and seemed tired and listless. At one stage, Claudia, who has three children from a previous relationship as well as a 10-month-old with Derek, took him to a homeopath, thinking that the problem might be nutritional as the family is vegetarian. He had such little energy that she had given up walking him to school as the five-minute journey could take an hour.

Then, last summer, when Jesse was so pale the skin above his lip appeared blue, Claudia took him to his GP again. She immediately did a blood test. His iron count was down to 4.9 (normal levels are 11.5 to 14). At 9.30am the following day Brighton's Royal Alexandra Hospital called saying they wanted him there by noon. "I hadn't thought it would be anything really serious," admits Claudia. "It had been such a slow ordeal." Since then, the family's life has been turned upside down.

By the afternoon, Jesse's parents were told he would have to undergo a blood transfusion the following day, and then go to Great Ormond Street Hospital for Children in London for a bone marrow biopsy. "Everybody thought he had leukaemia. We were just devastated," says Claudia.

While the biopsy didn't find any trace of leukaemia, it did show signs of dysplasia. "I didn't know what that meant," she says. "We had to come back and do lots of research and try and work it out. It means 'abnormal'. We couldn't imagine what it could be and didn't even consider myelodysplasia because it's a disease that old people get, unless it's part of certain genetic syndromes, none of which Jesse really fitted into."

A couple of weeks later, myelodysplasia was indeed diagnosed. Claudia, who was five months pregnant at the time, says: "We were told that there was absolutely no alternative to a bone marrow transplant. We were both in complete shock. We didn't really believe the diagnosis completely, because they couldn't give a reason for it. We fought against it, which is the reason why we have delayed it for such a long time. We've had second opinions."

While the hospital couldn't pinpoint why Jesse had got the disease, Claudia, who has amassed files of research, believes that he probably has something genetically wrong with him. His unusual thumbs, which he tends not to bend when picking things up, are similar to a lot of the genetic conditions that involve bone marrow failure.

In the meantime, the couple was told that every time the boy had a temperature over 38C they would have to call their local hospital and take him in for intravenous antibiotics over the course of three days. He has since been in over 10 times.

Last February, there was a momentary ray of hope. Tests revealed that Jesse had a haemoglobin count of 11, which was almost normal, and his white cell count was good. "I told them that they couldn't do a bone marrow transplant then because I needed to make sure that he was really as ill as they said he was, and that he wasn't going to get better all of a sudden."

Claudia wanted proof of his condition. "I know it's a bit mad but I even insisted on seeing his actual bone marrow to really see what was wrong with it. The haematologist took me into the labs and while I looked at the slides of the biopsy he described everything. I'd done a lot of work beforehand to know what normal cells are supposed to look like. He thought I was completely mad, but was extremely gracious about it. Jesse looked too. Seeing it made it so much more real. At this point I was considering Chinese herbal medicine. We'd been having cranial osteopathy and homeothapy and I realised that every supplement in the world was not going to change the way his cells were making blood."

Claudia and Derek agreed to the transplant. By a great stroke of fortune, a suitable donor was found relatively quickly. "I can't imagine what it's like for the people who can't find one," says Claudia. "We feel so lucky." The donor is a 34-year-old German, who is now referred to as "the really nice man in Germany" when speaking to Jesse. The family are enormously grateful and hope to send the anonymous donor a card of thanks once the procedure is completed. "He's going to make such a difference to us. I think he's a fantastic man," says Claudia.

In the meantime, as Jesse's health deteriorates, his mother has been raising funds for the new Royal Alexandra Hospital, which opens in Brighton next year. She is donating five pence from every sale on her website, purple-heart.com, and in her shop, to the hospital. She also picked an estate agent to sell her house that was prepared to make a donation. It gave £1,500.

But despite the "really nice man in Germany", there are no guarantees for Jesse. He will be in Great Ormond Street Hospital for eight weeks. "The whole procedure is risky," says Claudia. "There is a chance that he will reject the donor marrow, and that could make him very ill and put his life at risk. It is also possible that it won't work and he will still have MDS at the end of it. There is also a serious risk of a life-threatening infection while he is recovering from the transplant. After the eight weeks in isolation he will have another six months of semi-isolation at home, during which time he won't be able to go to school or visit areas where there are a lot people, such as the shops. During that time he will be extremely vulnerable. The procedure will have lifelong consequences for his health and growth. It is because of all these aspects that we were reluctant to agree to it without being absolutely certain that it was the only option. It is for all these reasons that it is difficult to think of a time when he will just be 'better'. Although there is a good chance that one day he will be, it feels like we have to jump many hurdles first."

The disease that attacks the blood

* Myelodysplasia is an abnormality of the bone marrow, which gradually affects the production of healthy blood cells.

* Bone marrow produces stem cells, which develop into three different types of blood cell: red (right), which carry oxygen to all cells in the body; white, which fight infection; and platelets, which help the blood to clot.

* The main symptoms of MDS include anaemia, repeated infections, bruising and bleeding.

* Most cases of myelodysplasia have no known cause.

* In a small number of people, a myelodyplastic syndrome occurs as a result of previous chemo or radiotherapy.

* It is more common in elderly people but can occur at any age.

* Treatment depends on age and general health. It may include a bone marrow transplant, chemotherapy or immunosuppression therapy. A transplant is generally only used for young patients as the risks increase with age.

* For more information contact Cancerbackup on freephone 08088 001 234 or visit www.cancerbackup.org.uk

* The Anthony Nolan Trust is calling for more male donors aged between 18-40 to join its register.

* There are two methods of donation. A bone marrow harvest requires a two-night stay in hospital and under general anaesthetic the cells are extracted from the pelvic bones by needle and syringe. No incision is required and the blood stem cells replace themselves within 21 days.

* A peripheral blood stem cell donation encourages stem cells from the bone marrow into the blood stream. Five days before the collection the donor receives daily injections of a growth factor. The cells can then be collected. No in-patient hospitalisation, or anaesthesia, is required. To find out more about becoming a donor call 020-7284 1234, or visit www.anthonynolan.org.uk