Breathing issues can be a very debilitating problem for individuals with Rett Syndrome. Interestingly, mice models of Rett also exhibit breathing issues very similar to affected people. The fact that breathing can be objectively measured in both people and mice is an advantage. However, the variations in hyperventilation and breath holds, not only from person to person but within the same individual makes analyzing the breathing quite challenging. Another challenge will be educating the FDA and their European counterpart (EMA) that improving the irregular breathing patterns is a worthy goal in and of itself. Typically the FDA wants to see symptom improvement correlated with functional abilities. So for example, a clinical trial testing a medication would have to show that a reduction in breath holds improved eating, swallowing or a reduction in seizures (these are just examples) and not simply show a decrease in the number of breath holds.
In preparation for meetings with the FDA we wanted to reach out to you, the real experts in Rett Syndrome and ask for your thoughts on how breath holds, hyperventilation and air swallowing affects your child and your family life. Please try and be as specific as possible.