If your body’s waste center isn’t working
With the rising costs of health care, the discussion is slowly getting under way whether the treatment of rare, life-threatening and therefore expensive diseases should be automatically reimbursed. Conditions such as Fabry disease: a life-threatening metabolic disease.
It is 1898 when Dr. Johannes Fabry, German by birth and dermatologist by profession, describes the symptoms of a hereditary metabolic disease. Patients of the disease that Fabry sets forth suffer to a greater or lesser extent from:
• Pain and burning sensation in the hands and feet (both persistent burning, tingling, and aching pain and occasional bouts of intense, burning pain)
• Fatigue
• Little or no ability perspire (and therefore hypersensitivity to strong temperature fluctuations, fever attacks or overheating)
• Difficulties with physical exertion (resulting in overheating or fatigue after even the slightest activity or attacks of pain)
• Dark red spots in the skin (especially between the navel and the knees)
• Eye disorders (corneal clouding that causes the eyesight but not affected)
• Gastrointestinal complaints (such as pain after eating, diarrhea, nausea and vomiting)
• Heart problems (eg enlarged heart, malfunctioning heart valves, irregular heartbeat, heart attack, heart failure)
• Impaired kidney function or even no longer functioning at all of the kidneys
• Nervous system impairment (possibly with a cerebral infarction result)
• Hearing problems (hearing loss and ringing in the ears)
• And, as a result of the above, anxiety, depression and isolation and even guilt because the disease is hereditary and can therefore be passed on to posterity
Discoverer
As is often the case with a disease that is described for the first time, it is named after its discoverer. Fabry disease is placed in the medical encyclopedia under the so-called ‘lysosomal storage diseases’. In this type of disease, the ‘waste plants’ of the body cells (the lysosomes) not right.
Molecules
What does this mean? In a healthy body, the molecules of substances that are no longer needed in the lysosomes are broken down into smaller particles. These smaller particles are then reused through the bloodstream or removed from the body through urine and faeces. In a lysosomal storage disease, however, the continuous molecules accumulate in the body cells and cause damage. This can lead to Fabry disease. About 1 in 40,000 people have this disease, both men and women. By the way, life expectancy for men with Fabry disease is 20 years shorter than average, and 15 years for women.
Incurable
Given the above, it should come as no surprise that there is no cure for Fabry disease as yet. If the symptoms are discovered at a young age (which in itself is still quite difficult to determine because the complaints also fit with other diseases. On average it takes 12 years after the appearance of the first symptoms before the diagnosis is made), the consequences of the disease are controlled. The most serious problems often arise between a person’s forties and fifties. By that time, life-threatening conditions have often already developed.
Intravenous drip
Some of the various symptoms of Fabry disease are treatable. For example, spots in the skin can be removed with a laser treatment and a hearing aid in hearing problems. The disease itself can only be controlled with drugs that have to be administered via an IV once every two weeks.
College for Health Insurance
Halfway through 2012, a discussion suddenly arose about the costs of rare and difficult-to-treat diseases such as Fabry disease. The Health Insurance Board proposed that the reimbursement for this disease and Pompe disease (a muscle disease whose symptoms are getting worse) should no longer be reimbursed from the basic package. This is in view of the enormous costs of up to 55 million euros per year for the approximately 170 patients of both diseases in the Netherlands. In the end it was decided to set up a special arrangement for expensive medicines.