Surprisingly–or perhaps, if you know me, not-so-surprising–this is my first post to this site. I’ve come to think of it as Betsy’s blog, for no reason other than she’s the principle author of each post. Also a first: Last week, for the first time since we first visited Cincinnati Children’s 5 years ago to discuss his new diagnosis of Limb-Girdle Muscular Dystrophy with Dr. Collins, I took Liam to his semi-annual clinical checkup. Twice a year, he makes the 40 mile trek to visit with his “team” of doctors and specialists, in order to see how the disease is progressing, checking the results of a battery of tests against the previous ones. Usually, Betsy is the one to take him (except for the one time, when his checkup was scheduled for the same day as her jaw surgery, and his two grandmas stepped in). It’s a full day of pokes and prods and questions, and it definitely takes an emotional toll on Betsy, not to mention Liam (though I secretly thinks he puts up with it all for the no-questions-asked pudding he gets in the hospital cafeteria at lunch). Because of the strain it puts on Betsy, after the last checkup in September, I promised to take off work and be Liam’s companion for his March 2017 checkup. Warning: This is a bit long. Sorry. (Not sorry.)
It truly is a full day affair. The first stop on the itinerary was scheduled for 9:00 AM, which meant we had to get up at 7:00 AM to get ready. Not so tough for me, but Liam is used to waking up a full hour later than that, so even his bedtime routine the night before had to be altered. One of the many side effects of MD is trouble sleeping, and Liam is no exception, so getting him to sleep early is always fraught with peril. Thankfully, his neurologist recommended using Melatonin as a sleep aid, and it seems to do the trick with Liam. We both woke up, ate our breakfast, got ready, and were out the door by 7:45 AM, to give us plenty of time to navigate Cincinnati’s morning snarl of traffic and arrive at Children’s on time. We made it there just before 8:00 AM (though they did tell us to be there 15 minutes early…) and used Children’s very convenient valet parking to whisk our van away. It’s been a few years since I’d been back to the main CC building, and it has changed a lot. There were areas that I hadn’t seen before, and ongoing construction gave the place a sort of face-lift. Thankfully, CC has always been easy to get around in, with highly visible and clear signage on every available surface. We made our way to the 4th floor to check in.
We let them know we had arrived, and then waited for a short time in the waiting room. Like every public area in our society, there was big and bright television on the wall, so Liam was occupied while I filled out the “paperwork” on the tablet they gave me. I’d imagine a place like CC still has a lot of dead tree paperwork to deal with, but using the tablet for the several-dozen questionnaire is a great advancement (at least for someone my generation and younger, who are comfortable with electronic devices). The questions pertained to Liam individually, and our family as a whole, often only focused on the last 30 days. They asked about things like eating habits, sleep habits, mental health, sicknesses and injuries, etc. I’m sure it’s all fed into a data mining database somewhere deep in the bowels of the place (or directly to the NSA, whichever is easier). After just a few minutes, they called us to head to the first stop of the day.
After a brief stop to get his height and weight (26 kg; I don’t remember the height), we wheeled on down to a small exam room with a bed, chairs, some hospital equipment, and–of course–a television. Here he would have his heart monitored using an echocardiogram and an EKG. I always thought they were the same thing, but alas, WebMD to the rescue: “An echocardiogram (also called an echo) is a type of ultrasound test that uses high-pitched sound waves that are sent through a device called a transducer. The device picks up echoes of the sound waves as they bounce off the different parts of your heart. These echoes are turned into moving pictures of your heart that can be seen on a video screen.” Meanwhile, “An electrocardiogram (EKG or ECG) is a test that checks for problems with the electrical activity of your heart. An EKG shows the heart’s electrical activity as line tracings on paper. The spikes and dips in the tracings are called waves.” Both tests involved having several pads stuck to your bare skin, and Liam was especially ticklish that morning. He insisted that he be the one to take them off, and the EKG alone had about 16 pads to remove. The tech told us Cardiology would follow up later in the day to discuss the two tests, and a short wait later, we were led to the next exam room.
Clinic days are considered “Yes” days. This means that Liam can ask us for just about anything, and the answer (with a few exceptions) will be affirmative. He has a love of books, so we brought a few with us, but he mainly wanted to play on his tablet. He has a Nabi that his Baba gave as a Christmas present a few years ago, and right now the favorite is a game called Fieldrunners. It’s a simple tower defense game that keeps his attention for hours. The only rule, whether it be books or tablet or whatever, is that when doctors come in, the distraction goes away. He’s very good about this. While he played, the Genetic Counselor at the clinic stopped in for a chat. She mentioned she had spoken to Betsy via email a few times, but never was able to meet with us during Liam’s clinic days. She wasn’t on our itinerary, so I was very caught off guard, but she did have some good information to impart. Since we had both tested negative as carriers for Liam’s random LMNA gene mutation, it meant that he had one bad version of the gene, and one good one. It also meant that, should he choose to, Liam’s kids would have a 50% chance of having the gene mutation as well. Something Betsy brought up later, however, is that genetic scientists can actually remove that bad gene during family planning. The counselor also mentioned that Lydia has a 1% chance of carrying and passing on the bad gene, so that’s also something to keep in mind.
Two doctors from Cardiology came in to discuss the results of the echo and EKG. Both show his heart is still very strong, which is encouraging. One thing they want to do relatively soon is start including a Cardiac MRI in his clinic visits, but not yet. They mentioned they like to do these starting around 10 years of age, simply because it’s easier to tell a ten-year-old to stay still long enough to do the test, and they’ll obey and actually stay still. The purpose of the MRI is to look for scar tissue around the heart. One of the major problems with Muscular Dystrophy is the inability for muscle tissue to repair itself, and with the heart being a very important muscle, it’s better to stay ahead of any complications like that. Another piece of good news was the decision that Liam wouldn’t have to wear a holter monitor this time. A holter monitor is a device about the size of a paperback book that gets strapped to Liam, along with sensors, to get 24 hours worth of heart data. Liam thinks it makes him a cyborg. Even so, this is not something that he cares much for. He says it’s “itchy”, and the 24 hours means he has to wear it to school, and try to sleep with it attached. Because of the stable readings from the echo and EKG, they decided we could defer the holter monitor to the next visit. Liam was elated. He was also cracking up the doctors. They asked about his activity levels, and he went in a long story about recess at school, and the intense tickle sessions and the “Big Swing” something-or-other he and his friends do.
Next up was PT, and the Rehab doc came in as well. Liam had mentioned that his feet hurt a lot lately, so they wanted to make sure his shoe-insert braces fit properly. After close examination, they thought the braces were still working properly (not too small, nothing rubbing awkwardly), so they thought his ankle muscles might just be getting tired quickly. Either that, or it might be run-of-the-mill plantar fasciitis. He has that on both sides of the family, so it wouldn’t be a surprise. In case it was the ankles, they gave us some new nightly stretches to perform, to hopefully loosen up his limbs and joints. Every night, we do a sequence of stretches on Liam’s legs, arms, and neck, in order to keep muscle contractures at bay. These are a big problem with people with MD, thus to keep his mobility and freedom of movement as long as possible, we do them diligently. Along with new stretches for us to perform on him, they gave Liam some new stretches that he can do on his own, including some he does with his shoe braces on. The idea of leaving the braces on helps to keep the foot in the proper position while the muscle is stretched. They also had him do various timed tests, including getting up off the floor, running down the hall, and stepping up and down from a platform. All times were similar to the last ones, which is good. Finally, the PT measured the angles of his extended limbs, to see if the contractures are getting worse. All measurements were similar to last time, but they stressed the new stretches would greatly benefit is day-to-day comfort.
The last visit of the day was from Liam’s new neurologist, Dr. Irina Rybalsky, M.D. When Liam was diagnosed at 3 years of age, we were recommended to Cincinnati Children’s Hospital because one of the leading researchers of Congenital Muscular Dystrophy was there, Dr. Jim Collins. A few years in, he moved his practice to St. Louis, but still traveled to Cincinnati a few times a year, and we were fortunate to be able to continue to be his in his care. He’s now moved on from CC, so Liam and I got to meet his new doctor, Dr. Rybalsky, another neuromuscular specialist at CC. Despite our rule about putting down devices when the docs come in, she let Liam continue to play his game while we chatted, and I think that impressed him. She had talked with the PT about his ankles, and wanted to ensure that he started using his nighttime braces again. The purpose of the braces, whether shoe-insert or otherwise, is to keep the foot and ankle properly positioned at all times. You and I have no trouble in doing this, but someone like Liam cannot, and it can lead to trips, falls, and–worst of all–fractures. Thankfully, Liam hasn’t had any broken bones yet, but the tightness of his ankles concerned her, and wearing the nighttime braces again would help with it. His nighttime braces are more like boots (his shoe-insert braces only cover the foot from the ankle down, and you’d be hard-pressed to notice them if you’re not looking), and if you can imagine wearing thigh-high hard plastic boots to bed, they don’t seem very comfortable. Liam disliked them so much, that a few years ago we asked if he could stop wearing them altogether, and they consented. Now they want him to wear them again, but offered up a novel solution to the discomfort: Wear them on alternate feet each night. We have a prescription for a new set, and I’m eager to see if the single boot solution allows him to sleep comfortably. Dr. Rybalsky wanted to make sure he was getting enough calcium during the day–1,000 mg for his age–to ward off any bone density loss that could lead to breaks. Between the almond milk with his breakfast cereal, the chocolate milk in his lunchbox, and various yogurt and string cheese at snacktime, he easily gets enough. She mentioned one of the best sources of calcium was, believe it or not, sardines. Something else she recommended, to help with the tiredness Liam feels by the end of the day, was the supplement CoQ10. Apparently it helps improve cellular metabolism, which might give him a little more energy throughout the day. We’re eager to try it. Finally, Dr. Rybalsky repeated a few of the same tests as the physical therapist, including the timed running down the hall. She had me stand at the finish line, and told him to run and give me a big hug. The look on his face as he tackled me was priceless. She also did a few tests where she had him hold his arms or legs out and she tried to press them to his body, to test his distal muscle strength. She was impressed at his strength. Lastly, she mentioned if we were interested in joining any trials, to visit clinicaltrials.gov and search for anything related to Liam’s disease. I’m not sure we’re ready for that yet, but it’s something to keep in mind. Finally, around 2:00 PM, we were free to go (and find the cafeteria).
As mentioned, Liam is able to get anything he wants on his clinic days, including from the cafeteria a CC. His lunch consisted of a cheeseburger (his favorite food, which we also had for dinner as well, by request), french fries, Nacho Cheese Doritos, Sprite (soda is still on special occasions only), and for dessert, the infamous chocolate pudding. We took our time, with no more itineraries to follow or questions to answer. Finally, when he was full (a rarity; that boy can eat) we cleaned up, retrieved the van from the valet, and headed home.
Around 4:00 PM, no less than 9 hours since we had both woken up that day, we arrived home. I see now what Betsy means about the clinic visits being draining, both physically and emotionally. I am glad that I went, though, to get a better sense of what his “team” of doctors is doing for him. I will make it a point to go with him more often. The only thing left to do for the day was to watch the penultimate Harry Potter movie (we’re reading the books together, almost done), eat our cheeseburgers, and try out his new stretches at bedtime.