The Niemann Pick C diagnosis - A time of waiting and worrying

Mael’s life was a battle from the start. He was born on April 18, 2008 after a very long and difficult labor. Even during the birth we twice feared that we were going to lose our Mael, because his heartbeat slowed way down and everything was very frantic. But he came through the birth well. As a result of his difficult birth he still has a mark on his little nose, because he was “queued up” in the birth canal for so long. Before his diagnosis we used to worry about whether that mark would bother him someday. How little that matters now…

Mael developed wonderfully. There were no deficiencies in his development. Quite the opposite: he developed very fast and well, and we enjoyed wonderful months with our Mael. At the age of six months we noticed that the abdomen of our little boy was very hard on the right side. At a routine checkup with the pediatrician, we pointed it out, and the doctor said that he could feel the spleen. An ultrasound at the hospital revealed that the spleen was much too large. Blood tests followed, and a first suspicion was formulated. They thought that the spleen was so large due to the cytomegaly virus, because antibodies for it were found in his blood. There were more ultrasounds and blood tests. In the meantime the spleen had grown to the size of an adult’s, and the blood values were unusual. The virus could not cause that, so a doctor at the children’s hospital in Lucerne ordered a bone marrow biopsy in November 2009. By this time Mael had already been walking for several months and was already saying some words. Although we were worried about what might be wrong, we never suspected that Mael had such a serious, incurable, and fatal disease. He still seemed so healthy—so wonderful and perfect!

The suspected diagnosis of Niemann-Pick C: incurable and fatal
One week after the bone marrow biopsy, we had an appointment at the Lucerne children’s hospital. We still didn’t know whether the results were back yet or not, and we went unknowing with Mael to the visit. Then the doctor told us that our son very probably had the storage disease Niemann-Pick Type C. The foam cells typical of NPC were found in his bone marrow. We left the office in a state of shock. The doctor had told us right there and then that the disease is incurable and that most children die between the ages of 10 and 20 due to neurological deterioration. These were things we hadn’t even thought about up to that point. We were crying as we left the room where our whole world had fallen apart in a few seconds. The doctor had advised us not to search too much on the Internet and to take things slowly, but we wanted to learn more about this disease. And then, as we read more and more, our world completely collapsed. Not until we were home did we realize that we would lose Mael and possibly also our then unborn Lian to this disease, because I was at that time six months pregnant with Lian. The probability that he also had the disease was 25%.

The time of worry and hope
The next day we were at rock bottom and had someone with us round the clock. The situation was especially painful for me as a mother, since I was pregnant with Lian and sometimes could barely breathe with the pain and fear. Mael had also begun to realize that something was going on, and he reacted with enormous sleep problems. We had lost the earth beneath our feet and could barely stand up. But still Mael and our unborn child both needed us, so we gradually pulled ourselves together to be there for them.

A few days after the first suspected diagnosis, we went to the Zurich children’s hospital to see Dr. Marianne Rohrbach. She treats practically all the Niemann-Pick C-patients in Switzerland. Mael had a skin test and had blood drawn. The doctor told us about the different types and gave us some hope that Mael might have the milder type B. Then followed months of waiting and worrying. We would never have believed at that time that it would take five months to get the final, terribly painful diagnosis!

The difficult search for mutations
Mael was genetically tested for types B and C at a laboratory in Germany. For a long time no mutations were found, and then, a few weeks before Lian’s birth, came the seemingly good news that they had found a type B mutation in Mael! For us it was a relief, and we hoped it meant that he couldn’t have type C. We told ourselves that it was type B and that it was now only a matter of time until the second mutation would be found. But the search for the second mutation was very difficult. It didn’t fit that they could measure an enzyme level in Mael that should have been lacking with type B. In the meantime we were hoping even harder that he had the mild type B form with some remaining enzyme function. Hoping for type B had allowed us to slowly relax a little, and we hoped so fervently that he didn’t have type C. And finally, we felt that surely he couldn’t have mutations for both type B and type C! But somehow it just couldn’t be type B, and a specialist who had closely studied Mael’s foam cells again recommended that they search further for the gene that carries the type C mutation.

The final, terribly painful diagnosis - all hope was lost
And suddenly everything went very fast. On April 30, 2010, Tise spoke on the phone with our doctor in Zurich. He had felt that something wasn’t right, and she told him on the phone that now two type C mutations had been found, so Mael definitely had the worst type C. At that time Mael was celebrating his second birthday with his friends in our yard. I didn’t yet know anything about the devastating news and was trying to make the party as much fun for him as possible. As if Heaven and the angels already knew, a thunderstorm came and we had to break up the party. Tise came home, quiet and pensive. But he said nothing and we put the children to bed. When I came out of Mael’s room, I saw him with his eyes full of tears, and he said he had to tell me something. I knew immediately and began to weep bitterly. Everything in me fell apart and I had a kind of nervous breakdown. We now had the tragic and terribly painful knowledge that we would lose Mael in such an awful and insidious way, and we would have to watch helplessly in the future as he lost all of his faculties. What happened to me and in me that night was so indescribable, there are no words...

Waiting for Lian's result
The final diagnosis for Mael was so painful, and then we had to start worrying about Lian. Because at that time we didn’t yet know whether or not Lian also had it. Now that they knew for sure which mutations to look for and where to look for them, Lian’s blood could also be tested. And so began the seemingly endless wait for Lian’s test results, that would mean life or death for him. We knew that it would take about a week, and we hoped desperately that Lian would be lucky and we would not lose him to this disease. I could barely think, eat, or sleep during that week. An ordinary day was impossible, and without the help of our parents, friends, and helpful neighbors we would barely have survived that time.

Lian at that time was already three months old, and he seemed to us as perfect and wonderful as Mael had been. We simply could not trust that he was as healthy and lively as he appeared, so all we could do was hope and worry that he would be okay. One week after Mael’s diagnosis, Lian’s results were in. Tise, my mother-in-law, and I went into the woods, to get Lian’s result there on the phone. My mother-in-law didn’t want to leave us alone in the woods, because she was afraid I wouldn’t be able to take another cruel blow. I took along good luck charms and candles, and we sat on the ground on a blanket in the woods. Tisa dialed our doctor’s number, and we knew that in the next few seconds we would find out whether or not we would lose Lian too. I could hardly bear the suspense, and I clung to my husband. The doctor answered, and immediately from her tone of voice we knew that she had wonderful news for us. It was such a huge relief! I screamed to the woods that Lian was healthy, and I cried with relief. Looking back, May 7, 2010 was like the day Lian was born, and we will never forget that moment in the woods. Because only then could we hold Lian in our arms without the terrible fear of losing him too. Only then could we look at him and know that he is healthy.

And so we came back home, hugely relieved and happy about the wonderful news for Lian and yet so terribly sad and inconsolable that Mael couldn’t have had the same luck.