Treatments and disease management

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Drugs and devices

Enzyme replacement therapy (ERT)


Enzyme replacement therapy (ERT) uses an intravenous solution to replace a deficient or missing enzyme in the body. ERT does not cure the disease but slows its progress by increasing the amount of missing enzyme in the body. ERT is currently available for many of the MPS diseases MPS I, MPS II, MPS IVA, MPS VI and MPS VII and Fabry.




Hematopoietic Stem Cell Transplantation (HSCT)


Hematopoietic Stem Cell Transplantation (HSCT) is a blood stem cell transplant. There are a number of possible sources of blood stem cells, these include the bone marrow, peripheral blood and umbilical cord blood. HSCT is the collective name for Bone Marrow Transplant (BMT), Cord Blood Transplant (CBT) and Mobilised Peripheral Blood Stem Cell Transplant (PBSCT).

A BMT requires the availability of an appropriate tissue matched donor. This donor may be a family member or an unrelated donor from a bone marrow donor panel. A CBT is carried out using umbilical cord blood. Cord blood is collected from the afterbirths (placenta) of new-born babies with their parent’s consent. The baby donors are not normally related to the patient although the cord blood needs to provide a suitable match. In PBSCT medication is given to the donor to stimulate their bone marrow to produce high numbers of stem cells. These cells are then separated from the blood by a machine that collects the white blood cells and the red blood cells which are given back to the donor. Having any of the HSCT procedures is similar to having a blood transfusion. HSCT is currently a treatment option for MPS I (Hurler syndrome), MPS VI, MPS VII, and ML II.




Other medicines


People with MPS diseases will often need several different medications to manage symptoms. These can include medication for diarrhoea, constipation, blood pressure, mucus production, blocked nose, coughs and antibiotics for bacterial infections. It is essential to speak with your doctor rather than using over-the-counter medication from pharmacies.




Night time Continuous Positive Airway Pressure (C-PAP)


Many children with MPS diseases breathe very noisily even when there is no infection. At night they may be restless and snore. Sometimes the child may stop breathing for short periods while asleep, this is called sleep apnoea and can lead to daytime drowsiness and headaches. This noisy breathing which stops and starts can be very frightening for the family to hear and they may fear that their child is dying. In fact, many children may breathe like this for years.

C-PAP involves placing a mask over the nose and surrounding area each night and having air pumped into the airway to prevent it from collapsing. This can greatly improve the quality of sleep as well as help prevent or reduce the risk of heart problems caused by low oxygen levels at night. In severe cases of sleep apnoea with heart failure a tracheostomy, which is a hole in the airway made in front of the neck, may be needed. CPAP is currently an option for MPS I, MPS II, and MPS III





Monitoring

Scans


Scans are used to help diagnose what is going on inside the body before a decision for treatment is made. There are several different types of scans and the clinician will explain the choice depending on the circumstances.

An Ultrasound Scan (US), sometimes called a sonogram, is a procedure that uses high-frequency sound waves to create an image of part of the inside of the body. There are different kinds of ultrasound scans, depending on which part of the body is being scanned and why. More information on US scans is here.

An X-ray is a quick and painless procedure commonly used to produce images of the inside of the body. It is a very effective way of looking at the bones, joints and bowels and can be used to help detect a range of conditions. More information on x-ray scans is here.

A Computerised Tomography (CT) scan uses X-rays and a computer to create detailed images of the inside of the body. A CT scan can be used to diagnose conditions including damage to bones, problems with blood flow and to guide further tests or treatments. More information on CT scans is here.

Magnetic Resonance Imaging (MRI) is a type of scan that uses strong magnetic fields and radio waves to produce detailed images of the inside of the body. An MRI scan can be used to examine almost any part of the body including the brain, spinal cord, bones and joints. More information on MRI scans is here.




Nerve conduction study


A nerves conduction study is commonly used to evaluate the ability of electrical conduction of the nerves of the human body. Small metal wires called electrodes are placed on the skin that release tiny electric shocks to stimulate the nerves; the speed and strength of the nerve signal is measured so that the function can be evaluated.




Electrocardiogram (ECG)


An ECG is a simple test that can be used to check heart rhythm and electrical activity and to monitor conditions affecting the heart. Sensors secured to the skin are used to detect the electrical signals produced by the heart each time it beats. More information on an ECG is here.





Supportive care

Hydrotherapy


Hydrotherapy is a water-based form of physiotherapy which differs from swimming because it involves special exercises that can be carried out in a warm-water pool. The water temperature is usually 33 to 36ºC, which is warmer than a typical swimming pool. The warm water offers pain relief and the focus of the exercises can be adjusted to help with the range of movement or strength, depending on the symptoms.




Speech and language therapy (SLT)


Speech and language therapy provides treatment, support and care for children and adults who have difficulties with communication or with eating, drinking and swallowing.




Physiotherapy


By taking a holistic approach physiotherapy involves the patient directly in their own care to help restore movement and function when affected by a disability. Benefits from physical therapy are also gained from an exercise-based approach.




Braces


Some people experiencing joint deformities in the spine may need to wear braces of supportive jackets to manage spine curving.




Diet


Following a tailored diet may help with bowel problems also ensuring the diet is nutritionally balanced if certain foods are difficult to swallow. A dietician will be able to help develop a dietary plan depending on the needs of the person.