The Niemann Pick C diagnosis - an often long and frustrating road

It is often very difficult to diagnose Niemann Pick C. It can take several years or, for adult patients, even decades from the beginning of the first neurological symptoms to reach the suspected diagnosis. Because it is so rare, there is still little research being done on the disease, and in addition, the first clinical symptoms can vary widely in nature and in time of onset. Many cases are therefore misdiagnosed or not even noticed at first.

There are several different tests for diagnosing Niemann Pick C. Many of these tests are complicated and can be done only at specialized institutions, some of which are not available in Switzerland. The first indicator is a bone marrow biopsy, in which the foam cells typical of NPC can be seen. Type C can then be identified by means of a skin biopsy and confirmed with DNA testing.

Mael's Diagnosis

Mael was diagnosed very early. From the first medical abnormalities to the definitive diagnosis took only 18 months. The early diagnosis was both good and bad news for us. We found out that much sooner that we are gradually and inexorably going to lose Mael in such a painful way, and that knowledge is ceaselessly painful and overshadows all our lives. On the other hand, however, we have already been able to support Mael with various treatments, and above all give him the one currently known drug that seems to slow the disease. We will never unknowingly ask too much of Mael, and in the future we will understand why he is changing. This is an advantage that is not to be underestimated, because we can spare him a lot of emotional pain in the future. Another advantage that was very important to our family planning is the possibility of prenatal testing. Because we already know about the disease and both mutations were found, it was possible to test our youngest son Nevin for Niemann-Pick C in the womb. This was very important to us, and we are infinitely thankful and glad that our third child also had such good luck.

A detailed description of Mael’s diagnosis process can be found here.