VRK1, PCH1A or Spinal Muscular Atrophy with Pontocerebella Hypoplasia... does it really matter what you want to call it, the disease is still a progressive motor neuron one. Affected are the voluntary muscles used for crawling, walking, head and neck control, and swallowing (SMA) along with an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. In addition, a region of the brain called the pons also fails to develop properly. The pons help to transmit signals from the cerebellum to the rest of the brain. Ian does not have SMA or PCH, but these two rare diseases are used to describe two clusters of symptoms caused by the alteration VRK1.
So knowing all of this monitoring everything is important. We already know the muscles used for crawling, walking, head and neck control have been affected and no longer work. Knowing what we do, means keeping a close eye on the muscles used for swallowong. To monitor this, Ian has had numerous swallowing studies over the years, with the last one over a year ago. We decided it was time to check it out...so today was the day.
We were presently surprised it went well, everything went down smoothly and quickly as it should. They did not see any signs of muscle weakness based on how the food was traveling or any signs of aspiration. As long as we don't see anything concerning we are good for a year. Ian gets to continue eating and drinking by mouth ...woo hoo.