November 3, 2019

Last week we had a great visit and time of respite at Canuck place. But mixed in with the fun and rest were three important medical appointments for Heston. So for those who like to follow along on how he is doing, this update is for you.

The first appointment was with our doctor that we call our Sanfilippo specialist. His knowledge of the disease and its progression is extremely valuable to us, as he is one of the few doctors we see that has any experience with the disease. From him we were able to get some great advice on what things are important for us to monitor at this stage, and what maybe is not really needed. Both things are valuable as unnecessary appointments and stress can really add up when you already have so much to attend to and deal with.
Our biggest issue currently and moving ahead are Heston's slowing bowels and this doctor was able to give us some suggestions as to what medications are the most effective and least pain causing for him. He explained that it is the damage in the brain that is mostly causing this slowing, as the bowels rely on the brain giving the signals to keep things moving, and moving in the right direction. We so take for granted how the brain synchronizes all parts of our intestines and when these signals are not given, things can get stuck. Many medications that are options to give to get things moving for a normal person are not effective for Heston. For example, if the brain is not moving the bowels, then something that stimulates the bowels themselves may just cause them to sort of itch or cramp, causing Heston pain without effective results. Unfortunately this also means that we are more and more limited on what we have to use, but to us the reduction of pain for Heston is our utmost priority, so this information is invaluable.

Next we had a dental check-up. Because Heston is solely g-tube fed now (nothing by mouth) his risk for cavities is low. However, Heston's teeth grinding lately has been a concern for us, as we are worried he might grind them down to the point of pain. We were assured by the dentist that while certain teeth are very worn off, there are new adult teeth emerging that are helping. There also appears to be no issues like abscessed teeth or gum inflammation- all great things to hear. We have heard many times that Sanfilippo kiddos can be in extreme pain due to teeth problems, but because they cannot speak and tell you that is where the source of their pain is, it can often not be realized for some time. So a reassurance that Heston's teeth all look good for now is another weight off our shoulders and we will take it!

Our third appointment was with the orthopedic doctor who continues to monitor Heston's kyphosis and scoliosis in his back, as well as his hips, neck, etc. All of these things are potential issues for Sanfilippo kids, and particularly Heston as he is now completely wheelchair bound and also has a misshaped vertebrae in his back. So far everything is remaining stable. The misshaped vertebrae is of the biggest concern to the doctor who says that he is extra concerned as Heston continues to grow and get closer to puberty. If this vertebrae starts to shift in the wrong direction it could compromise his spine which would not be a good thing, and he would recommend surgery. We have another appointment in 6 months to follow up, but at this point things are looking okay.

We came back from this trip and these appointments feeling hopeful, and I have been thinking about that. The crazy thing is that no part of the information we were given gave us any hope to fight or even slow down the disease that is Sanfilippo. For so many other diseases there are options, in various forms, of treatments or drugs that they can try. For us there is nothing. Our goal has been to help Heston live the best life he can, with the time he has. For us a big part of that is keeping him as pain free as possible, and that is where our hope from these appointments came. When you are a parent of any child, but especially a medically challenged child you have a lot of responsibility and make a lot of decisions as to what to give your child. What therapies to choose, what to focus on, what drugs to take. So many times we are making decisions to give Heston things, or not to give him things and often it is overwhelming. We want what is best for him, but don't always know what the best is. This visit we came back feeling more equipped, and that is huge.

Jordan and I have also been talking lately about the weight of the continued uncertainties and unknowns around Heston's disease, and particularly this later stage we are in. We have decided that I tend to lean toward the negative, preparing for the end, noticing continued declines side of things. Jordan tends to want to cling onto hope, not get ahead of ourselves, keeping the outlook that things are going fine, and will continue to for a while still. We have decided that the reality is likely somewhere in the middle of our two perspectives and that sometimes we end up overcompensating for the other. And while this is a part of the journey that continues to weigh on us, we are both on the same page when it comes to the priority for Heston. Our focus on his quality of life, not the quantity is where we are completely in agreement. We will continue to look forward to making memories and loving fully. And we are so grateful to so many who have come along side us, helping us do just that.