This morning the kids had an appointment at Children's with our new genetics and metabolism doctor. Our former doctor took a director position with NIH and can no longer see the kids. She is our most favorite doctor and we are sad to not have her heading the kids' medical team anymore. She has made herself available to us if we have any questions or problems and she is willing to consult as needed, too. However, we needed to form a relationship with a new geneticist. We met him this morning and he seems very nice. He is familiar with Sanflippo, which is a real bonus, considering how many doctors have never seen a patient with MPS before.
The appointment went well. He asked a lot of questions, trying to get to know the kids and us. He wanted to know how best he could help our family - what did we need from him. What a great way to approach parents!
While discussing changes since our last visit, we told him that Waverly is having more trouble chewing and swallowing her food. This is an expected problem. Kids with Sanfilippo end up requiring a G-tube (feeding tube) at some point during the progression of the disease. Of concern is chocking, of course. We try to be very careful with size of bites, textures and speed of eating. Another problem is aspiration, when a bit of food can get into the trachea and lungs. It causes an infection and can be fatal in our kids. Matt and I have already started to discuss the issue of a feeding tube. We want to be proactive and not wait too long. Waverly will still be able to take in foods orally, but the tube assures that she is getting proper nutrition.
The doctor thought it was important for us to continue to discuss the tube, because he felt that was something we would most likely need in the near future. We most definitely do not think she needs it yet, but it is something we are going to research and talk about.
I think that having the topic of a feeding tube on the table in a realistic way was a bit jarring for me. I knew it was something we would eventually need, but actually having to discuss it was difficult. It was yet another reminder of what lies ahead for Waverly & Oliver.