Childhood acute lymphoblastic leukaemia (ALL) symptoms and diagnosis

ALL affects how your child’s cells function, which can cause a number of symptoms. The most common ones that your child may experience before being diagnosed with ALL are:

Anaemia

This means a low red cell count in the blood. This can cause:

• persistent tiredness and fatigue
• breathlessness, even when your child isn’t active
• dizziness
• paleness.

Bruising and bleeding

This is caused by a low platelet count in the blood. This can mean:

• Your child is more prone to bruising than usual, which can occur without your child experiencing many bumps and knocks.
• Your child may experience unusual bleeding or bleeding that takes longer to stop. They may get nosebleeds or bleeding from the gums.
• Your child might develop a petechial rash. These are round, red or purple spots that appear on the skin that are caused by bleeding underneath the skin.

Infections

This is caused by a low white cell count in the blood. This can mean:

• frequent infections and fever, even if there are no clear signs of an infection.

Weight loss

This is caused by a high metabolism (the rate we burn energy from food). We don’t completely understand why the metabolism is speeded up in children with ALL.

Other symptoms

ALL can sometimes cause other symptoms; these are a result of the spread of leukaemia cells in the body.

• The lymph nodes in your child’s neck may swell, which will look and feel like swollen glands.
• Your child might feel some pain in the stomach area if the liver and spleen enlarge.
• Your child may complain of bone pain; this is caused by the overcrowding of the leukaemia cells in the bone marrow.
• Your child may be feeling generally unwell.
• Your child may have night sweats.

Your child will have a set of tests to confirm whether they have ALL or not. At any time, you can ask your healthcare team to tell you why your child is having a certain test and what the results mean.

Tests to diagnose ALL

The most important tests to find out if your child has ALL are the full blood count and bone marrow aspirate.

Full blood count

A full blood count (FBC) measures the number of each type of cell in the blood: red cells, white cells and platelets. It also allows your child’s doctors to look for leukaemia cells in the blood.

Your child will have this test quite often throughout their treatment and you may wish to keep track of the results of their blood counts. If you choose to do this, your child’s consultant or specialist nurse will be able to explain what the results mean.

Bone marrow aspirate (biopsy)

Your child’s doctor will take a bone marrow sample to see how the blood is working inside your child’s bone marrow. Your child will have this test a number of times throughout their treatment.

A small amount of bone marrow is taken from the pelvic bone using a needle (an aspirate). Your child’s doctors will then look at the bone marrow sample under a microscope to assess for any disease which may be in it.

Your child will have their first bone marrow test when they’re in hospital at the time of their diagnosis. However, almost all of your child’s bone marrow tests after this can be done as an outpatient (meaning they won’t need to stay in hospital overnight). The procedure is usually quick but it can be uncomfortable for the short time that the sample is being taken from the marrow. For this reason, the doctors will usually give your child a general anaesthetic so they’ll sleep through the procedure.

Bone marrow trephine (biopsy)

At the same time as the bone marrow aspirate is done, your child’s doctor will also do a trephine biopsy. This is the removal of a core of bone marrow from the pelvic bone under the same anaesthetic. This sample provides information about the structure of the bone marrow and the number and distribution of the different blood cell types and cancer cells if present.

Tests after diagnosis

If your child is diagnosed with ALL, the doctors will carry out a number of further tests. These will give them more information about the disease and help them decide how much treatment your child needs in order to have the best possible chance of being cured, with the least possible side effects.

Lumbar puncture

Leukaemia cells can sometimes get into the fluid that surrounds the brain and spinal cord (known as cerebrospinal fluid or CSF). A lumbar puncture involves taking a small sample of CSF to check if there are any leukaemia cells in it. Your child’s doctor will very carefully insert a needle between the bones of the lower spine into the space around the spinal cord and remove a few drops of CSF.

Your child will have a number of lumbar punctures throughout their treatment – not only at diagnosis stage. The doctors will give chemotherapy into the CSF at the same time as these lumbar punctures. This is in order to treat any leukaemia cells that may be present in the CSF, and to prevent the leukaemia from spreading to the CSF.

A lumbar puncture is usually done under general anaesthetic, just like the bone marrow test. For older children, the doctors may offer a sedative instead.

Cytogenetics

All kinds of cancer, including blood cancer, involve changes in genes in the affected cells. The study of these changes is called cytogenetics or molecular genetics. These gene changes aren’t the same thing as a faulty gene that you inherit from a family member which causes cancer.

Your child’s doctors will carry out cytogenetic tests on cells from your child’s blood or bone marrow samples to find out information about the exact changes present in the cells.

The results of cytogenetic tests are particularly important in helping the doctors decide how much treatment your child needs, and whether your child’s condition is likely to respond to standard treatment.

Minimal residual disease (MRD) test

Minimal residual disease (MRD) refers to the small number of leukaemia cells that are still present in the bone marrow, even if your child is responding well to treatment. It’s normal for there to be some MRD after the early stages of treatment and it doesn’t mean that your child can’t be cured with further treatment.

When your doctors look at blood cells through a microscope, the lowest number of leukaemia cells they can detect is about one leukaemia cell in 20 normal cells. The MRD test is much more sensitive and can detect leukaemia cells at levels as low as one leukaemia cell in 100,000 normal cells.

The results of the MRD test will help your doctors decide how much treatment your child needs.

There are a number of other tests and scans your child may have throughout their treatment.  These will help your doctors to see how the disease is responding to treatment, to look for any complications caused by the condition or its treatment, and to check for other problems such as infection.

The doctors will be very careful to make sure that your child isn’t exposed to radiation unless absolutely necessary. During a CT scan or MRI scan you won’t able to be in the room with your child, but your child will usually be able to see you through a window and you’ll be able to talk to your child over an intercom.

X-ray

X-rays provide very good images of the denser tissues in the body, such as bone. Your child’s doctors may use an X-ray when your child is first diagnosed, to check for infection or any other chest problems. ALL can cause the lymph nodes in your child’s chest to enlarge. This can cause compression of the airways and major blood vessels. If an X-ray shows that this is happening, your child’s doctors will begin treatment urgently to relieve the compression.

They may also use X-rays during treatment to monitor how well your child’s responding to treatment and to check for chest infections, if their white cell count is low.

CT scan

This is a form of X-ray that produces a detailed picture of the inside of the body. It’s a painless procedure where your child will need to lie on a table that moves into a cylindrical tunnel while the pictures are taken. Their body isn’t completely enclosed at any time and they’ll be able to talk to the person who takes and assesses the images (the radiographer) during the procedure.

Your child may need to have some fluid dye injected into a vein to help the computer form a better image. For very young children (up to about five years of age) the whole procedure may be done under a general anaesthetic.

The results can take some time to reach your healthcare team, so don’t worry if you don’t hear about them straight away.

Magnetic resonance imaging (MRI)

This scan uses radio waves rather than X-rays and produces images that can be analysed on a computer. Your child will lie on a table and the table will move them through the scanner. It’s a painless procedure which can take up to an hour to perform.

Like for the CT scan, your child may need to have some fluid dye injected into a vein to help the computer form a better image. If necessary, your child will be given a sedative during the procedure. For very young children (up to about five years of age) the whole procedure may be done under a general anaesthetic.

Liver function test

This is a blood test to check if the liver is working normally. It’s a very important test for patients receiving chemotherapy, as many drugs are broken down in the liver. If the liver isn’t working normally, the doctors may need to adjust your child’s doses.

Urea and electrolytes

This is a blood test to check how well the kidneys are working. It helps the doctors work out the doses of drugs your child needs, and will also show any damage that may have been caused either by the leukaemia or the treatment. It can also show if your child has become dehydrated.