I have met many people from all over the world since I found out about my daughters diagnosis. I do not know of any child who has been diagnosed with Werdnig Hoffman Type 1 Spinal Muscular Atrophy that has lived over the age of two years if diagnosed before the age of six months who does not use the bi-pap. There are many children who have been diagnosed with SMA type 1 and the doctors tell you to take your child home and love it as long as you can. They do not tell you because of lack of knowledge and experience that you can use non-invasive methods to help keep your child alive. Bi-pap is one such method. When children are affected with SMA they use all their energy to breathe. They breathe with their diaphragm and at a very fast rate. A normal respiratory rate for a healthy baby is 20-30 breaths per minute while awake. A healthy adult breathes at a much slower rate 14-16 times a minute. Children with SMA breathe with their diaphragm thus we call it diaphragmatic breathing.
Day and night the SMA child uses all kinds of energy to breathe. The only rest they can get is during sleep. However, restful sleep is not achieved when one must work so hard to breathe. Oftentimes, SMA children fuss at night waking frequently by being startled awake possibly because of small bouts of apnea or dropping of oxygen saturation levels. Other signs of poor ventilation and need for bi-pap are fatigue during wakeful hours and inability or desire to eat. In the early stages, oxygen saturations will appear normal. The doctors want a child to go thru a series of tests in a sleep study. These tests are obnoxious in my opinion and more often then not the doctors see good oxygen saturation levels and do not recommend bi-pap. If bi-pap is recommended they prescribe settings which are too low and not of any help to the child. The end result remains, the parents take their child home and still have problems at night getting rest because their child is waking frequently. Over time the child weakens due to all the energy consumption and their poor tired bodies give out and they either die or are trached due to respiratory distress. Trachs are pushed onto parents in the times of crisis. Generally, the parents are not prepared for this decision. The parents do not want to lose their child and they are scared and overwhelmed. They either decide to trach the child or let it pass on. It is my opinion that a lot of children who would have been just fine if non-invasive methods were tried first would not have died or would not be trached at this time.
One option to having a sleep study that costs a lot less money and is much less traumatic to the child is to get a pulse oximeter that can give you a readout. The readouts can tell you hourly what the oxygen saturations are and at what percentage range the levels are falling into. A pulse oximeter is a machine that calculates the percentage of oxygen in the blood. A normal healthy person should have an oxygen saturation level of 100% while awake. The oximeter is used by placing a small probe on the child's finger or toe. The probe or electrode as it might be called reads the saturation of oxygen from the blood vessels. This procedure is not painful and is not invasive. It does not hurt at all. You will know the child is not oxygenating well at night if the readout shows oxygen saturation levels below 95% during sleep. Another simple painless test to see how the child is ventilating is to measure the carbon dioxide (C02) level the child breathes out. This is done with a special device called a capnograph. Small plastic tubing is held right on the inside of the nostrils and measures the carbon dioxide exhaled. Again not painful at all and takes seconds to get the readout.
It is very important to get a child, in my opinion, on a bi-pap regime in the very early stages of SMA. Because parents are so shocked and this is such a difficult disease to accept. I believe parents stay in denial thinking their children are going to be Ok or maybe the thinking is that they do not want to hurt their child and put them thru any more pain then they have to . For whatever the reasons, bi-pap is not used often enough. Bi-pap MUST be used and accepted by the child before a illness occurs. What I have seen happen with many many families is that they get to the point of sleep study but the results come back normal.. No bi-pap is prescribed or given for trial usage. Then the child goes home still has problems and ends up sick and in the hospital. The child is under stress and very weak at this point. The child is struggling to breathe. The child probably also is not getting good and proper nutrition. The child is sick and dying because they are not getting good and proper nutrition (nutrition to be discussed later) As a last resort, the doctors try oxygen and possibly bi-pap. Well, this does not work at this point. The child is not used to the bi-pap, it scares and stresses them even more. The child fights the bi-pap. The struggle to breathe intensifies. I assume the doctors shake their heads and pity the poor child. At this point they probably give the option to trach, let the child die, or keep trying bi-pap. Again, settings are not given that are helpful to the child. The child struggles, fights the bi-pap and then dies. It is so sad and I read or hear of this same type story over and over from people I meet.