If it weren’t for Facebook, I think February 22nd might have passed by this year without me even thinking about what day it was. I wonder if that’s a sign of healing or just a sign that we’ve had way too much going on lately? Facebook, as it so often does, reminded me bright and early on February 22nd that it was the 6 year anniversary of the first time we’d ever heard the words “Costello Syndrome”. Thinking about that day still takes my breath away. It’s not because the words “Costello Syndrome” fill me with sadness anymore (although I still hate them some days).  It’s  just because of the memory of how I felt that day and how it feels to be totally crushed like that. Although  I’m sometimes not impressed by the things that Facebook reminds me of, I really value it for the connections that it provides for families like ours. I love it for the constant contact that it provides to other people going through the same struggles that we are and for the support that comes along with that. I love that it gives us a way to raise awareness and to stay somewhat connected even when life gets so hectic that we don’t have time to call or text. Yes,  there is good and bad when it comes to Facebook but it sure likes to remind me of things that I may not want to be reminded of! : )

Anyways, as I was saying, we’ve had a lot going on with Ali. It seems like when we resolve one thing and have the opportunity to breathe a little, something else comes up. I guess we should be expecting it by now! If you remember, Ali really struggled with blood sugar for about a year. We felt like she was unsafe and probably not thriving the way she could be. She went through a lot of testing and eventually we decided to treat her hypoglycemia with Growth Hormone. We weren’t really all that comfortable treating a child with a high relative cancer risk with a medication that causes cell proliferation but we weighed the risks versus the gains and we decided that to keep her safe we needed to try it. Her blood sugar has been much, much better since we decided to give her the hormones and despite having to get a needle every night, she seems to have adjusted really quickly. We noticed some changes in Ali’s feet and legs after a couple of months on the hormone medication. She started to struggle to walk and one of her ankles started to turn under. She also had a couple of little toilet accidents at school which was really out of character for her.  We casted her for ankle and foot orthotics and took her to her Orthopedic Surgeon because we thought she had an achilles issue (as is common in children with Costello Syndrome).   As soon as she had a chance to assess Ali, the surgeon realized that Ali’s ankle issue was actually neurologic in origin. She sent us to our Neurosurgeon, he ordered some testing and an MRI and we waited to find out what would happen. Now, most of you know from reading my blog and from being around me in real life that waiting is not my strong suit. Uncertainty drives me nuts. The testing was inconclusive so our Neurosurgeon and Orthopedic Surgeon took the time to contact multiple experts on Costello Syndrome, I think they even sent out a power point of her MRI images. In the end, it was determined that to avoid further damage (including permanent loss of bladder/bowel control), Ali would have spinal cord surgery. Very quickly we had a surgery date, we bubble wrapped Ali to keep her healthy and started to prepare for surgery. On February 16th, Ali had surgery on her spinal cord in the hopes of finding and releasing a tethered cord. The neurosurgeon found that her spinal cord was indeed very tight, much tighter than it appeared to be on the MRI and that despite it not being visibly tethered on imaging, it was actually tethered in two places.  Because her cord was tethered it wasn’t able to stretch and move as she grew and it was causing nerve damage.  It was tethered in an area that would probably cause the ankle issues and also in an area that directly relates to bladder/bowel control.  It was causing bladder issues that were worse than what we were actually seeing. We probably greatly accelerated this degeneration by putting her on growth hormone (she grew 6 cmin 5 months), her spinal cord wasn’t mobile enough to accommodate the growth but it has always been tethered so this probably would have happened eventually regardless. Now that her spinal cord has been released and is actually mobile, we need to fix the damage and the question is how do we do that? Her ankle is quite bad. We may need to do ankle surgery in the next year or so to repair it but we are using AFOs right now and are hoping that we make some headway. Thankfully, we caught it before the bladder issues appeared to be that bad so our hope is that over the next two to three months, her bladder function will improved to what we thought it was anyways. She had also started walking around with her hand on her tailbone (apparently she was tethered right there) and it was most likely an indication of discomfort. She’s not doing that anymore. We got very lucky with this. The system worked exactly as it should and we couldn’t be more satisfied with the outcome. Sometimes the system really does work perfectly! Now, we go back to concentrating on Ali’s chewing and her open bite which was what were working on before we got side tracked by her spinal cord. Hopefully, we can get that dealt with before the next thing pops up! Wish me luck keeping Ali calm and occupied at home for another couple of weeks!!!

Note: for other CS Families.   Please contact me directly if you want to discuss the result of Ali’s MRIs and other testing and why we went with surgery despite inconclusive results.