Symptoms of Niemann Pick C

The symptoms of Niemann Pick C and the time of onset vary widely between patients. In general, the earlier the neurological symptoms appear, the faster the progression and the shorter the life expectancy. The average age at which the neurological symptoms appear is six years, which corresponds to an average life expectancy of 16 years. The first symptoms most often appear in school-aged children. Vertical gaze palsy is very common, affecting 90% of all patients at varying stages of life.

The symptoms usually appear gradually, and from year to year the children lose all of their learned abilities, until they are severely disabled and die of this disease. The child who has learned to walk goes more and more slowly when walking and falls more often, until he can no longer walk at all and is confined to a wheelchair. The child who so quickly learned his first words and phrases and speaks fluently begins to stutter, becomes unintelligible, and finally can no longer speak. The child who was able to think logically, remember experiences, and look forward to seeing you gradually loses comprehension and becomes demented. The child who played so happily and actively and was so full of life becomes apathetic and begins to have debilitating epileptic seizures. The child who ate with pleasure and a hearty appetite can no longer feed himself or swallow and has to be nourished with a stomach tube. The child who wanted nothing more than to grow up has no chance for a future...

This is Niemann Pick C—and all this and more is what lies in store for our wonderful child Mael, unless a medical miracle occurs. The knowledge is almost too much to bear, and every day and night the sorrow and pain lie over all of our lives.

Maels symptoms at the age of 5 years

No one can tell us exactly how Mael’s disease will develop and how long he will live. Mael unfortunately has several symptoms already at the age of 4-1/2 years, including an enlarged spleen, muscle weakness, mild coordination problems (ataxia), mild tremors of the hands, and vertical gaze palsy.

Enlarged spleen
In Mael’s case, the enlarged spleen led to his diagnosis. Today his spleen is about 18 cm wide and takes up a large portion of his abdominal cavity. Mael therefore has a very large and hard abdomen. People who don’t know him often think that he is just chubby, and we have often heard such comments. The spleen is large and hard and hinders his movement. We have to be careful that his spleen is not injured by pressure or impact, which could cause it to rupture. Especially when he’s playing with his brother Lian, there are constantly situations where I have to protect Mael. Mael and Lian both know that they have to be careful of Mael’s stomach, but they tend to forget when they’re playing.

Gross motor skill problems
Mael has trouble with balance, coordination, and strength in many gross motor movements, and he often appears to be somewhat clumsy. There are many motor skill areas in which he can no longer keep up with his friends of the same age, and his gross motor development is very slow. For example, Mael does not climb on the playground, or climbs on the bars only with help. Even the swings, which his same-age playmates greatly enjoy, he can’t do. When he jumps, he does so slowly and appears uncoordinated, and he can’t hop or stand on one leg very well. He sometimes has trouble doing stairs or even just standing. He often has to catch his balance, or his legs buckle. All the things that children of his age do easily are difficult and laborious for him. Still Mael is a good judge of what he can and can’t do, and he tries new things with great enthusiasm, and when he really wants to do something, he usually succeeds and is very excited about it.

Fine motor skill problems

In addition to the gross motor deficiency, the disease also affects his fine motor skills. He has difficulty drawing, cutting things out, and eating, because the required hand and finger movements are difficult and laborious for him. The fine motor problems are barely noticeable to outsiders, but he has them and we also see exactly what causes him problems, such as when he presses the button in an elevator and the button doesn’t go in, when he holds a fork awkwardly and then drops it, when he’s drawing and can hardly make the crayon move over the paper. Here too it takes a lot of patience and motivation, and despite these problems he works a lot with his hands and fingers and keeps practicing. In spite of everything he still enjoys crafts, and we try as often as possible to work on these fine motor skills daily with him. He has made progress, and of course we hope it can continue.

Vertical gaze palsy
Another symptom that outsiders don’t notice is vertical gaze palsy. The muscles that control his eye movements have been weakened or don’t react well enough. For him this means that he can’t control his up and down eye movements as well as he wants to. It makes him trip occasionally over little uneven spots on the ground, because he can’t see them very well. And if he tries to follow an object with his eyes, the motion is often jerky and is not easy for him.

In spite of everything, a cheerful and happy child
The symptoms are all still fairly mild and don’t hinder him too much in his daily life. Mael plays age-appropriately with his siblings and friends, laughs, speaks well and often, enjoys indoor play areas and outdoor play groups. He looks like a healthy child. Anyone who doesn’t know about Mael’s illness would never know that he has such a serious and fatal disease. But because he already has multiple neurological symptoms now, we mus

The drug Zavesca as only chance in the race against time

The uncertainty when and how the disease will progress and what new symptoms will come, is the cruelest about this disease for us at the moment. We can simply do nothing except being here for him and hoping that Mael will be stable as long as possible and that hi still will make further progress. Our greatest hope at the moment is the drug Zavesca that Mael is on since his third birthday. The medicine may help delay the disease, so that he will still have enough time for a miracle. Because our Mael deserves a chance for a future, and we can’t and don’t already give up on him. We will do everything for him and will fight for his life.

>>You will find details about symptoms of Niemann Pick C on the website of the Swiss Niemann Pick Association NPSuisse.
>>There is information about Zavesca under research research.