To date there is no cure for Niemann Pick C disease. There are also only a few forms of treatment that have some effect on the symptoms. For Niemann Pick C there is a drug approved under the Swissmedic health system (Zavesca), that can slow and stabilize the disease if treatment is started early. This drug indirectly neutralizes the excessive storage of the body’s cholesterol, by reducing production of certain enzymes in the lipid metabolism cycle. There is also at least one hopeful drug development project under way, which is already well into the animal testing stage and in the next few years could be the breakthrough that we’re all desperately hoping for. In addition, physical and life skills therapies and treatments for symptoms, such as drugs to prevent epileptic seizures or athetosis (involuntary muscle movements), can alleviate the symptoms.
Maels treatments at the age of 5 years
We set out to keep Mael as active as possible, so that he can get lots of practice and training at all of the activities that are difficult for him. We try to lead a “normal” life with him and his brothers, and we do everything that is possible for him and makes him happy. For example, he goes to the local indoor children’s play area, attends a weekly play group there, and has even been to an outdoor play date in the woods. Although at first we were concerned about whether he could walk on the path in the woods and would be safe enough on the uneven ground, now we’re very glad that we let him do it. He had a wonderful time playing in the woods and gained so much self-confidence! And here too Mael knows exactly what he can and can’t do. He watches a lot, takes everything in, and decides what he can and wants to do. After a morning at the play group, in the woods or indoors, he is physically and mentally exhausted but also very, very happy!
Three times a day Mael swallows a capsule of the drug Zavesca. After a seemingly endless wait to get coverage through the health insurance system, we were able to start him on the drug in April 11 at the age of three years. We increased the dose very carefully, because we wanted to be sure that he tolerated the drug well, since there is very little experience with how well small children tolerate it. He is now at the full dose for his weight and height, and we are very happy that he has tolerated the drug well so far. The worst side effect is food intolerance caused by this drug, so Mael has had to follow a special diet since starting the treatment. Sugar, lactose, and starchy foods are difficult for him to digest and give him severe diarrhea and gas. With the diet and careful administration of the drug we have gotten the diarrhea under control, and he now has severe diarrhea only occasionally.
Whether the drug is working is very difficult to measure. However, it is certain that since starting the treatment, Mael has continued to develop and has had no setbacks. Because Mael unfortunately had early neurological symptoms, we must expect the natural progression of the disease to be more rapid. We’re convinced that the drug really is helping him and has slowed the disease, but because the drug is extremely expensive and insurance coverage for it is very difficult to get in Switzerland, we are unfortunately having to struggle to see that he will still be able to get it in the future. It’s a burden that simply and absolutely should not be necessary and saps more of our energy.
Information about Zavesca is available under Research.
In addition to working with him at home as much as we can, Mael goes once a week for physical therapy. The various exercises are very much like games and focus on balance, coordination, and strengthening his muscles. And if he is too tired or just doesn’t feel up to it, the physical therapist also has games that target his fine motor skills. Mael and his physical therapist have become a great team, and he looks forward to his weekly “gym hour.”
Special education visits
Once a week a special education tutor visits Mael at our home for an intensive and highly enjoyable “play hour.” Mael is permitted and encouraged to bring his ideas, and also is learning to accept more of the tutor’s ideas. During this hour they build things, draw and paint, just talk or role-play, solve riddles or listen to stories. And the tutor always works to reinforce Mael’s strengths and also detect any weaknesses.
This is Mael’s favorite thing! Twice a month he gets pony rides at a lovely stable. He not only rides but also helps with the care of the ponies and has contact with the animals and nature. In addition to the great joy it brings to Mael, riding also helps to strengthen his muscles, especially in the torso. Mael is getting very good at it and is more and more secure on the pony. Recently he said to me, “Mommy, when I grow up I’ll be able to ride the big horses too!” How wonderful it would be, if that wish could come true...
Photos of a riding session in October 2012 can be found in the Photo Gallery.
Mael loves being in the water and enjoys swimming in our pool at home in the summer. So that he can also regularly get into the water during the cold winter months, he attends a swimming course once a week at the local indoor pool in the winter. The water helps strengthen his muscles and exercise his lungs. For him it’s great fun, and even better when he’s in the water and can spend a happy hour with other children.
Photos of a swimming session in December 2012 can be found in the Photo Gallery.