When Sophie had to go through a sleep study outside the hospital for the first time on the occasion of the study for Vimizim in Mainz, the measurement showed how bad her oxygen saturation was during the night. Her level has been examined regularly, but the results have never been that bad. The measuring was repeated in Zürich and at the same time a nocturnal respiration was adjusted on the monitoring station (IMC). The results were better than those in Mainz, but still not good enough which therefore justified the respiration.
Those of you who have already stayed the night at the IMC with infants know how that comes. A beep somewhere every three minutes, a crying baby, a nurse having a chat with somebody or checking the wiring. No chance for the desaturation to occur. Nevertheless the specialists were able to collect and evaluate important data.
Sophie got a BIPAP device with humidification. In contrast to CPAP, where oxygen is supplied at constant pressure, the patient inhales at higher pressure and exhales at lower pressure. The machine helps push air into the lungs. It supports the natural breathing.
The selection of the mask was more difficult. The total- face mask was out of question for me, because it covers mouth, nose and eyes. As a tetraplegic, Sophie would never be able to free herself in case the the device failed. I wouldn’t be able to sleep soundly without being by her side all night long. Even if the alarm sounded, Sophie would hardly be able to hear it and get help in time. On the other hand, as a belly sleeper she would have certain advantages, for the mask would hardly slip and she could place her head onto the pad. Since Sophie cannot move, this freedom of movement is important for her.
A full-face mask covers mouth and nose. Here again Sophie would not be able to free herself and it would be hard for her to place her head onto the pad. So what was left was a nose mask. Despite a large selection of nose masks, there was only one suitable for children. It fit quite well round the nose and sealed well. Sophie could move her head without any slipping of the mask. Unfortunately, the mask caused bruises on her cheek, which meant to remove it after four hours.
Masks that cover the nose are rather unsuitable for Morquio-noses. They don’t fit round the bridge of the nose. A customized mask might fit in general, would, however, make sleeping in the prone position impossible with all the screws and the like. So the only choice left was the nose plug mask which, although not quite as tight and well fitting, it was the most comfortable one of all.
After a week in the children’s hospital everything fit and worked more or less well and we could continue to exercise at home. After a few weeks Sophie’s nose was sore and putting on the mask was painful. The zit-like wounds used to come faster and faster. The breaks we took between the ventilated nights got longer and longer and finally we omitted the mask completely. After some time we had to return to the IMC for a check-up. Since the nose wasn’t sore, the night passed quietly though short, because the wiring proved difficult. We were positive and optimistic when we left for home. Unfortunately, the nose was sore again after a few nights and everything started all over again.
Positioning during the night
We tried to have Sophie sleep on her back. After two hours her hands and her neck fall asleep. In the pursuing nights we tried different ways of sleeping positions. We hardly slept. The nights turned into physiotherapeutic exercises. On the following day Sophie was in pain and very tired. Sometimes her hands were numb until into the late afternoon or she had sore spots on her back and buttock. When we were at the SPZ (Swiss Paraplegic Centre) to adapt her wheelchair, we had the idea to adjust the lying positioner for stomach sleepers so as to lead away the tube of the mask without producing pressure marks thus enabling Sophie to move her head. This solution was perfect. Her nose hardly got sore because of the low pressure on nose and cheek. During the adjustment phase she slept by my side. One evening I plugged the adaptor into an energy control switch and the device was running on battery power. After a few hours the alarm went off, because the battery was running low. Sophie didn’t hear the alarm and stayed asleep. My fears were justified regarding death by suffocation when carrying a total-face mask.
The nose mask, in contrast, enables Sophie at least to breathe through her mouth. Sophie slept well with this lying support for some months. Because of the successful ERT , puberty came and Sophie started to grow. Lying caused pain and sensory dysfunctions lasting until the afternoon. Mask and ventilator worked properly. I don’t know anybody who would ask to lie down in such a way just to wake up the following morning in pain and with tingling arms. Since the nights were short and full of interruptions associated with repositioning Sophie, the monitoring in the sleep laboratory were essentially satisfactory. We seemed not to be understood by doctors. They thought Sophie should always have been able to sleep with the mask without problems.
I felt like a failure, because I couldn’t find a solution. Various modifications of the lying support were pointless. My conscience was bothering me because I couldn’t help my child. The nights in which I had to get up because of the ventilation were a big burden, because I myself needed a lot of sleep. The monitoring nights at the IMC became a bogeyman. The people there were nice and just as nice they pointed out to my failure and the urgent need for ventilation. Explanations and well – meant advice made everything even worse. When you are stuck, don’t know how to carry on and what to do, then this is when good advice, even if it is well meant, is anything else but helpful.
Instead of enjoying the therapy week with the beloved Austrian MPS-families, we sent Sophie to the rehabilitative treatment centre of the SPZ. One goal was to find a solution for the nightly ventilation and the associated positioning. The experts were just as well baffled and couldn’t find a solution within these three weeks. It comforted me, because the night nurse responsible for repositioning Sophie could sleep during the day, whereas I had to carry on day and night.
In the following year we gave it another try. After three weeks the result was the same. Although there were solution approaches, more than three hours of sleep with ventilation was the best Sophie could do. The prone position still was a problem. Instead of the lying positioner, individually arranged positioning aids were used. Sophie got a new kind of nose mask that was extremely comfortable. The tube runs round her head and is then lead upwards/backwards. Elastic silicone covers the nose. It is inflated by the airflow thus covering the nose regardless of its size and form. The whole family had a go – it fit and sealed.
Back at home we tried the positioning aid. Unfortunately it slipped and the night’s sleep was repeatedly interrupted.
When we again had Sophie’s wheelchair adapted, I mentioned the night’s positioning aid. The orthopaedic technician was ambitious enough to give it another try. We stopped after a short time and started all over again. Because of the new mask it’s going to be a cushion with notches and slots this time to relief pressure of the nose.
As to follow