This is not really the post I thought I would be making today. I had planned to blog about our fun visit with Mimi and that post will come, I promise.
When I started this blog 19 years ago the main purpose was to keep friends and family informed about Alex's health because I couldn't keep up with the calls and texts from everyone who loved him. And I do still like to share so friends and family know the good and the bad in our life. But through the years I have also found that it is therapeutic for me to get my thoughts out "on paper". But it has also become a really important resource and documentation for me to refer back to so I can recall the details. So i need to write about our appointment before the details leave my old lady brain!
This year has been pretty rough medically for Maddy Moo. She has not felt well and we have been desperately trying to get some answers and find some relief. Yesterday we had a long awaited appointment with our PMR doctor (Physical Medicine and Rehab).This is one of the few doctors that Maddy will be honest with and that she trusts. Dr. Taylor spent an hour and a half with us and was able to put together some pieces of the puzzle and order some testing to try and help my sweet girl. Maddy has three issues that have cause her the most discomfort and struggle in her day to day quality of life. One is her severe joint hypermobility, one is her kidney/bladder issue and the last is her chronic dizziness/lightheadness. The dizziness we know, understand and are on medication for. It is still an issue every day, but is definitely improved since starting medication. The other two we are constantly spinning our wheels trying to help.
Maddy's hypermobility was first diagnosed in 2018. Since that time her left knee has been subluxing (dislocating and popping back into place) every time she straightens her leg. Initially they tried every kind of bracing and taping and PT to try and stabilize it, but it is too unstable for any device to hold it in place. That knee is actually the least painful of any of her joints because it is so unstable there is nothing to hurt. We have known for many years that she needed surgery, but we were trying to hold off as long as possible to avoid needing multiple surgeries on that same knee. Twelve was the magic age we were trying to make it to. We initially were planning for surgery next month, but we are planning around horse shows and the best time for Maddy to have the required 8 weeks without riding (which she is NOT happy about) we ultimately landed in November of 2026 as surgery month. She will also need surgery on the other knee (likely the following year). This is not a "minor" surgery it is open surgery with bone changes, ligament repair and likely tendon reattaching. Her ankles have been an issue since early in life. I have pictures of her when she was young with her feet in positions they should not be able to be. She wore AFO's and SMO's for many years, but as spent more and more time at the barn being in cowboy boots help keep her ankles stable and her English boots are even better. We frequently joke she should just have a pair of English boots to wear in the house. Maddy rolls her ankles all the time and frequently has pain and swelling. So the first decision Dr. Taylor made was to go back to bracing. She won't wear braces at the barn since her boots work pretty well but she will have one kind of brace that works/is comfortable when she is barefoot at home and another to wear in "regular" shoes. Maddy is so glad to have something to help those poor ankles. More recently her hips are frequently popping, jaw has been is popping and out and hurts when she eats, and her shoulders are starting to have issues. Those joints are quite a bit harder to stabilize. Dr. Taylor is waiting on some genetic testing to figure out how else we can help her feel her best and do what she loves. She also discussed Maddy's vision and some of the concerns we are having there and what we need to speak with our ophthalmologist about.
I have to jump way back to Maddy's infancy to explain this next bit so bear with me. When Maddy was an infant and toddler and was not meeting her gross and fine motor developmental markers, she fit almost every criteria for a tethered spinal cord. However, she had an MRI and everything looked okay so we moved on. When her bladder issues started again in 2022, I asked about whether we should repeat an MRI and was told a tethered cord had been ruled out it had to be something else. But it has always been in the back of my mind. When she was diagnosed with renal tubular acidosis and kidney stones and started on medication, the nephrologist thought the constant feeling of urinary urgency would go away. While the stones and burning got better for a bit, the urgency never went away. Maddy also has been having a really hard time riding Western at the barn, to the point of tears the last few weeks. I believed her, but I also know she prefers English so I thought she might be exaggerating a bit if I'm being honest. Since Maddy and I trust Dr. Taylor and know she always cares about Maddy having the best quality of life possible I asked on Tuesday if she thought her bladder issues could possibly be a tethered cord and if it would be reasonable to repeat an MRI. She felt like it was a great idea, but also asked a number more questions about Maddy's early years, her development, her potty training, etc. She absolutely believes it could be a tethered cord, but has some other ideas if not. Our conversation continued and Maddy told her some other things that I have completely blown off because they sounded crazy to me. Oops! Not the case.... There is a bundle of nerves called your sacral segment or sacral plexus. It effects your sensation to your inner and outer thighs and your entire pelvic region. She believes the sacral plexus is a big part of the picture regardless of the if the cord is tethered. It likely explains her bladder stuff, some of her pain, her neuropathy in her lower leg and feet, and her miscommunication between brain and lower body that we have always seen.
Next she wanted to test her strength and watch her walk. We were told this summer that some of Maddy's ankle pain (besides the hypermobility) was because her gait was off because she compensates to protect her left knee. While Dr Taylor walked she let me know her gait has gotten worse and that she is compensating more and more. She said we really have to do the surgery in November and not put it off any longer. When she examined her she realized that her compensation has not only caused muscular changes, but has started to change her pelvis and hip alignment which is very likely causing some of the back and hip pain when she rides western. She also confirmed that there is a large discrepancy in strength and muscle bulk with her left being much weaker (which is not new). She also realized that while her lower body strength is pretty good (because she spends her life riding and dancing) her upper body strength is very poor.
She was not surprised to see her struggling right now because kids with Mitochondrial disease always struggle during periods of growth, but also hormones effect mobility which I did not know. So we have a plan. For the next 3 months we are going to chart every day when he joints are dislocating or looser and when the back and hip pain is worse (likely opposite). She has ordered both a lumbar and cervical MRI. She will send us to another group if the cord is not tethered. They may be able to use some other techniques to help the alignment and take strain off the sacral nerves. I am so incredibly grateful for a doctor who cares about my girl and helping her live her best life. And for being kind and making Maddy feel safe to be honest with her. We are working on Maddy being honest about when she is hurting because she rarely complains.
On top of all of this her kidney condition is flaring and we believe she may have kidney stones again.
Please say some prayers for Maddy's heart as this is all a lot for a little girl to handle. Pray for answers that offer pain relief and some relief from the kidney and bladder issues. And for her to be honest with me, Mandy, Joli and her doctors so we can support her while still allowing her to do what she loves. We are so blessed to trust in a God who hears our prayers.
Thank you for loving our family during the good times and the hard times.
Ali
