Well, one week of appointments is down and we will be relieved when we have next week behind us. As you can see from the picture Josie had a rough day and night yesterday. We did get good news at the eye doctor in the morning. Josie's right eye looks great and there is no need to continue patching. This was the first time we have seen this particular eye doctor and we really liked her. She is going to follow Josie every 6 months since her diagnosis brings with it the chance of eye issues in the future. In the afternoon we met with the neurologist, Dr. Le Pichon. This was one of the appointments that you think you are prepared for and still feel like you were run over by a truck after you left. There was no surprise in that he agreed with all of Mayo's findings and said that at this time he would say she has a ciliopathy disorder. Basically, it means that Josie has an abnormality at the cellular level in her body, which then effects everything. That is why we have issues ranging from GI to ears to her head. Dr. Le Pichon is very compassionate in describing her difficulties and said that she is not going to have what we see as the typical life, but Josie will develop her own that can make her just as happy. We know that she has struggled and is so far behind, but it is still hard to hear from an expert that you trust. There is a little piece in the back of our minds that thought maybe we were just not being realistic, but clearly that is not the case. The most important thing Dr. Le Pichon said is that this is the critical time to help Josie develop skills such as speaking, eating, and walking and we need to do everything we can to support her. Our pediatrician and physical therapist recently suggested getting a walker called a gait trainer for Josie to promote walking and he agreed that this is something we need to do. He will continue to follow her yearly to document her development and assist us with any neurological issues we have. After that appointment we were all wiped out emotionally and physically, but we had to go on to the sleep study. We checked in around 6:30 and they began placing the 30 probes on Josie. I had no idea how difficult it was going to be. Josie has some sensory issues with her head and face and does not like being touched there. This made it even more difficult to measure and place 12 probes on her head
alone. We had to stop and take a break for awhile because Josie was crying so hard. At one point, I just had to cry with her. I'm sure the nurse thought I was crazy, but it was just too much to see after the day we had. Chad and I agreed that this was by far the worse experience we have had. It took about an hour and a half to finally get everything set up. Unfortunately, they would only let one of us stay during the study so Chad had to head back to the hotel room. Josie slept on me for a few hours and then in the crib for a few hours. The picture above is of Josie when she woke up at 4:00 a.m. to finish the sleep study. As you can see, they had to wrap her head to keep all the probes on. She was so relieved to get them all off. We went ahead and headed home once we were discharged and Josie slept most of the way, making up for some of the sleep she had missed. We were so glad to get the test done and should know in a few weeks what they saw. It was just one of those days we have sometimes with Josie where you feel like you've aged a year in a day. Fortunately, those days are, for the most part, rare and this afternoon she is back to her old self smiling, cuddling and playing with her toys. Henry did great while we were gone, although I think he wore Gramma Scott out last night since he got up frequently to eat. He is becoming more and more alert and today is just making great eye contact. We are so close to smiling that it should start happening any day. I know I'm partial since I'm his mom, but how cute is the little guy:)
Hope everyone has a good weekend...
