April 2013 - Life is a rollercoaster

Since the diagnosis we care a lot about Mael’s disease and it often determined in any way our feelings. Sometimes, there is hope, sometimes not. Sometimes, we can almost forget it, sometimes not. There are moments we accept it but will never say it’s ok, and sometimes, we just want to run away from this life which challenges us so incredible. But it does not exist, this place where NPC is not there. And there is nothing left for us to continue as every day this uncertain way in Mael’s future.

In April, a report about us on a family blog “Die Angelones” was published. Furthermore, Swiss Illustrated and Tele Zuri were visiting us. Their reports appear shortly. Although we have chosen an open and communicative way of dealing with Mael’s disease, we took the decision that we won’t make any other reports in the media for the moment. We need to protect Mael and ourselves a bit more. Because such visits and dealing with the disease are very upsetting, stressful and time consuming. We think that we have helped a lot to raise awareness about NPC and about rare diseases in general and we are confident that our efforts will pay off somehow.

Besides the communication it’s extremely important to us to connect with other families worldwide. I often communicate on Facebook with American families and I’m involved in very helpful and active Facebook groups. Meanwhile, we also have translated Mael’s website in English. This will also help to raise awareness for Niemann Pick C. We have also decided that I will fly to USA twice this summer to take part in NPC meetings. In June I will be attending the Parseghian Scientific Conference in the Chicago area and in August the NNPDF Family Conference in Baltimore. When I think of these trips, I have a queasy feeling. I will be in a foreign country with a foreign language and be confronted during a few days mercilessly with this disease. I will miss my dear firmly men! I want to make myself a picture, as it is to be surrounded by many affected children and whether such a meeting would ever make sense for our whole family. I'm curious - probably tense and hope that these trips will help me more than hurt emotionally.

Sometimes it's better, sometimes worse. This applies not only to our feelings, but also on Mael’s health. Some weeks ago, we were afraid that Mael gets worse and new symptoms showed up. This month Mael was very well and we were concerned a bit less. Mael had a good month, enjoyed the first nice days with us in our beautiful garden and we can happily report even minor progress. As Mael made the first jump on the trampoline, it was immediately clear to us that it's better. He proudly showed me what else he can do now and how high he can jump. A wonderful feeling - just one month after we did not know whether it just goes downhill now. NPC is simply not predictable and we can’t explain why Mael sometimes is doing fine, sometimes not. It is believed that any infections have major impact on the health and therefore we also try to protect him as best as we can do. There is not much we can do and we remain hopeful that Mael remains stable and that the drug Zavesca also helps him doing so. We hope it so much!

In addition to the small motor skill advances Mael has made major progress in his independence. For the first time he had a sleep over with his best friend Joel. I was very proud of him and it's nice to see that Mael is developed according to age and he has less trouble with the replacement. This is also very important to him with regard to kindergarten this summer. It will probably be enough challenging for him and I'm glad he makes this step by himself so well.

The best day this month for Mael was on April 18th. He celebrated his fifth birthday. He was really happy with his zebra party, with the party with his friends and the extra food. I have decorated our house for the zebra-party beautifully. Our Zebra Mael was the happiest ever. I was not quite so happy, even I’ve tried so hard. Maels birthday is a very special day. Even if we try to push away the dark moments, they come back again and again to this day. Mael’s years are limited. According to statistics, he has now already one third of his life behind him. According to statistics, it will sooner or later come birthdays on which he cannot say what he wants, where he can no longer play with the donated toys and he does not know really what day it is. According to statistics, we do not need more than 15 candles. These thoughts did not get our of my heart while I was packing up his gifts. So I sat there, in the midst of zoo gift wrap and wept bitterly. Especially when I packed up his friends a book. A book in which we can write his friends from now. How long will he know the names of his friends? How long will he be able to invite his friends to his parties and how long can he attend their birthday parties? How long will they accompany him on his way? How long ...? We do not know and hope so much that it's so long.

Another reason for hope came a few days after his birthday by the message of the Danish biotech company Orphazyme that announced another drug trial. (More on this in the research). We had previously never heard of it and were therefore pleasantly surprised. But it is still very little known about the study with the protein rhHSP70 and the uncertainty of risk and benefit is very large. But the fact that even in Europe is a drug trial in planning, is reason enough to be hopefull. It is hoped that this approach will be pursued and this protein is another chance to live a longer and better life with NPC. We will look at this development further and hope that it also can become a treatment for our loved children.

The last day of the month was again a day when I was struggling. Because it was the day we celebrated the second birthday three years ago with Mael and his friends. It was the day when my husband had to say something in the evening; I looked into his eyes and knew immediately what he had to say. I broke down. Literally town and since that day, after months of hope and trepidation, we know that our Mael is terminally ill and he only will be saved by a medical miracle. This day feels like yesterday but it’s already been three years now. I was glad when this day was over and hoped that the new morning will begin better. But unfortunately, this was not the case. The first message I read was sad and frustrating. The NIH has stopped the cyclodextrin study. The reason of the interruption are problems with the Ommaya reservoir that is implanted directly in the brain in the patients. At the beginning of the study, two out of three patients had infections and the reservoirs were removed. The study was stopped for safety of the children and they are now thinking about how to give the medicine otherwise. The only way would be a lumbar puncture in the back. However, this is physically very stressful for the children. BUT, very hopeful was the report on the first results. They showed with a few patients and even a small dose some positive results similar to the animal models. This is very encouraging and hopefull. These encouraging results are also the reason that the research team will not give up already and will fight for Mael and other children with NPC. Now we hope so much that the delay is not too long and that they can continue soon and will show more positive results. Cyclodextrin will never be a complete cure - but another chance for a couple of years more life, more happiness and confidence. Although this news was a setback, hope is still there and we will go on. We have no other choice.

Claudia Oetterli