March + April Update

These two pictures accurately summarize what has been happening in our world over the past two months. The creeping of March and the insanity of April. In the upper pic, you can see Mira slowly slouching in her chair, trying to slither her way to somewhere, out of her current position - whether she is uncomfortable, restless, or just wants to move - we are really never sure what she is trying to achieve when she does this. She does it at home, at school, in the car - pretty much everywhere.

Whatever the case, Mira's desire to creep out of her seat is how we all felt, trying to just get out of March. With no spring break plans and everyone getting stir crazy from the tail end of winter, I think we all needed a change of scenery. There wasn't anything particularly eventful about March, it just crept by at a snail's pace, simply because we didn't have a travel agenda for spring break, so there was nothing to gear up for, nothing to pack for, and nothing to really look forward to, except for well, April and warmer weather. Mira does not travel well and the boys were not interested in really going anywhere, so we decided to have a low-key spring break, which meant trying to occupy the time without going insane being at home.

We managed to get through March, but it seemed as soon as April hit, everything shifted into high gear. I had to do a ton of traveling, mainly to Virginia and Massachusetts, which was difficult on Sarah. Adding to that, I don't think the kids had a full week of school in March or April. The slouching led to full-on fidgeting, and nearly ending up on the floor. I managed to juggle my work schedule around Mira's appointments, having to take some time off to go to some of them - ultimately it gave Sarah a much needed break from trying to do 12 things at once, while I was out of town for a majority of the month.

One of those appointments, in the middle of April, involved Mira getting an ERG, which is an electroretinogram, ordered by her ophthalmologist at her last appointment. The reason for the test was two-fold: first, Mira's vision is extremely poor, thus it was a precautionary measure to see if there are deeper underlying issues with the structural integrity of her eyes and second, because of Mira's very high myopia, her heterozygous mutation of TPP1 (and possible connection to NCL) the rationale was that an ERG may also reveal any clues to her having some NCL-like symptoms that might surface from the test.

I was very optimistic for the first half of the appointment, where they had to dilate Mira's eyes - the pics above were her in the waiting room, as we were waiting for the dilating drops to take effect. Mira was all 'dragons' and smiling a ton. Unfortunately, the second part, the actual exam, did not go so well. Mira became restless and irritable, as we had to stay in a room in completely darkness for about 20 minutes, so the eyes could fully adjust for the ophthalmologist/specialist could perform the actual ERG. Mira's last ERG was about 8 or 9 years ago, where she was being monitored for retinal toxicity while on Vigabatrin. The technology since that time has changed and the ERG can now be done without sedation, with a handheld device held over each eye. Not having to go through sedation is great. However, Mira did not have the patience, even for this non-invasive exam. It took all of my physical strength and the assistant's strength to hold her still while the specialist tried to get a decent reading for each eye. This process of trying to hold Mira's head still, in complete darkness, with her crying, trying to push her way out of her chair, for 20-30 minutes, was incredibly exhausting. Mira did not want any part of this and had checked out as soon as the lights were off. By the time we were done and back in the daylight, she was back to her pre-exam attitude, making dragon noises once again in the van on the way home. It was an exhausting experience and ironically, that was almost a month ago and we just received the results last week, which were normal. The good news is that there are no structural or degenerative issues that surfaced from the exam, yet her extreme myopia is still a mystery.

Our second appointment was just this past week, with endocrinology. We had a discussion at our last appointment with her endocrinologist, which was about 6 months ago, about stopping Mira's Lupron injections. We collectively decided to go ahead and stop them now, as Mira is almost 12 years old, which is more of an appropriate age for her to start puberty. The rationale for starting the Lupron injections in the first place, was to delay the onset of puberty, which Mira was showing signs of, at age 7 or 8, which is extremely early. We don't know why her endocrine and hormones are so out of whack - just another side effect of having a catastrophic epilepsy I suppose. We think it is the right decision to go ahead and let things run their course finally, although we have some trepidation as to what we should expect once her last injection begins to lose its efficacy. I have read and heard that some kids have a significant spike in seizures, with all of the hormonal shifts that tend to happen in puberty. Only time will tell.

Other than these two recent appointments (and one with neurology next week) it has been quiet in terms of Mira's diagnosis, medication changes, or anything medically speaking. We have not made any medication shifts with anything - she is still taking Lyrica, Fluoxetine, and pyridoxine, with the latter two helping with her irritability. We only added an iron supplement to potentially help with her fatigue. In terms of her disposition and demeanor, not much has really changed in the last few months. She has had good days and bad - Easter being a particularly bad day for her, having multiple intense tonic-clonics that made her very irritable and dystonic, which led to she and I staying home while Sarah, Eli, and Jonah went on an Easter egg hunt at a friends' house. She has had several bouts of dystonia over the past 2 months, complete with rigidity, seizures, and an altered, distant disposition we tend to see with her, lasting no more than 24 hours for each episode. She also had a few days where she was very quiet, wanting to just lean forward in her chair, hands over her ears, trying to seemingly shut everything out, just like in the picture above. And of course, we have had those days of inconsolable crying, where nothing makes her happy. After almost 12 years of this epilepsy journey with Mira, we never no what to expect.