For once I just wanted to be able to place the blame on something other than CDKL5. I really felt it was time for once in her life to get an ACTUAL real answer versus "it is due to xyz because of all things related to CDKL5, but not directly a symptom of CDKL5". Would the answer have given us anything more concrete to work with? In my mind, yes. Reality? I suppose we won't ever know. It is amazing what happens when your child has a broad diagnosis; everyone spends more time blaming every other specialist, never taking any ownership over the symptom, deferring out the responsibility of treatment to someone else who feels it isn't really their problem and then nothing changes and no one helps.
Maybe a new diagnosis would not have given her any better treatment, but I felt like it would have doctors actually tell us if we should or should not be pushing her to weight bear to help her bones improve. Maybe they would give us a game plan for ways to protect her? I feel like we have essentially been left out in the cold. Any answers come after asking the same unanswered questions 15 times and then it is as if they are doing us a huge favor by giving us a reply. I have no idea what to do to help her.
This is a quick snapshot of "explanations" being given to us (and then my thoughts):
Her weakened bones and fractures are due to lack of weight bearing. When she weight bears she fractures a bone.
Her fractures are due to severe osteopenia from being non ambulatory. We cannot get her to be ambulatory because when we try she fractures a bone.
Speak to Endocrinology for best ways to manage osteopenia and her weakened bones. We did, she's on supplements and she had an infusion that caused such negative effects to her I never want to put her through it again.
Her weakened bones are due to seizure medications. NOT THE ONES SHE IS TAKING, and guess what, she won't be coming off of those any time during her life.
Her weakened bones are due to lack of nutrition. She now has greatly improved nutrition.
Her weakened bones are due to GI medications. If she had been on them for 30 years.
Her weakened bones and fractures are due to CDKL5. Not according to the CDKL5 guru.
What do we do for her? We have already padded her bed, her activity chairs, her wheelchair, and anywhere she is placed. She has done weight bearing one time since September and it resulted in a new fracture. She has been sitting in a cube chair at school, could that have caused compression fractures T5 and T6? Every time we explore a new avenue for her, her body lets her down. This is almost worse than watching her endure daily seizures. Or maybe in another almost 4 years, I will be used to it just the same?