Maciek is 6 years old. He loves sliding, sand games, the company of other children and hugging his parents. He is a really big eater and loves Tom&Jerry cartoons.

He is also dying.

Maciek was diagnosed a year ago with mucopolysaccharidose, type III A, known also as the Sanfilippo syndrome. This is a very rare genetic disease, occurring once in every 100 thousand births. It is caused by a metabolic disorder leading to storing the sugar molecules, called mucopolysaccharides, that are not properly disposed of from the body. As a result the body cells and organs are being damaged and eventually the whole body of the child is destroyed.

The average life of MPS III child lasts 14 years, however sometimes they pass away much earlier while the others are able to reach their twenties.

The early symptoms of the disease include enlarged liver and spleen, the children become extremely active and even hyperactive. Their hearing and vision becomes impaired and gradually they lose the ability to walk and move in general. A number of various severe symptoms often lead to complex surgeries and other medical treatments. As the central nervous system is attacked a significant mental impairment occurs.

Unfortunately there is no effective medical treatment for the Sanfilippo syndrome. Rareness of the disease makes the pharmaceutical industry reluctant to invest resources and pursue the search for the medication. The affected children would need to have the missing enzyme injected and this is currently researched by a handful scientists in a few medical centers in the USA and Europe.

However at least 5 to 7 years need to pass from the laboratory research to clinical trials and eventually the medicine registration and neither Maciek, nor the other sick children, have this time.

Therefore, the parents from around the world unite in their efforts to search for at least temporary solution that would slow down the disease progression and give our children the time they need before more effective treatment is available.

Currently the Team Sanfilippo – established by the parents in the USA (www.teamsanfilippo.org) – supports the search for the potential treatment methods by organising medical conferences and spending the funds raised to finance the medical research. Nowadays they are going to perform the screening of several thousands compounds already available in the USA for other diseases to identify the ones that may have the positive impact on the Sanfilippo syndrome. The screening of 5 thousand compounds for one sub-type of the disease costs approximately 40 thousand USD – there are 4 sub-types of MPS III.

These amounts are just the beginning of the substantial funds necessary to achieve the positive results. Each and every month causes the irreversible damages to the children body. Therefore we must not wait for things to happen – we must influence them as soon as possible. Once these methods are finalized and prove effective we are able to save our children a few years, hoping for the other medical treatments, that are being researched, to develop and eventually save their life.