I am at a loss. Waverly has been crying so much the past week. She is crying nearly continuously when she arrives home from school and she has been shedding more tears in the classroom. Her mobility has definitely decreased over the past few months. Her hamstrings and heel cords are getting tighter. Her range of motion has decreased. Her knees and feel have been swollen at times. We have seen countless doctors, who have been unable to provide any answers. Blood work and x-rays have been clear. Our physiatrist is unable to see Waverly until the end of July. We saw someone new who recommended a new style of orthotics, but his knowledge of Waverly & Sanfilippo were minimal at best.
I contacted our geneticist at NIH, after a particularly bad day. Waverly had cried for 4 hours straight. She immediately contact the PMR doctor she works closely with and he is going to see her on Wednesday morning. He has a lot of experience with Lysosomal Storage Disorders and mobility issues. I was thrilled to get an appointment so quickly. We will also follow up with our geneticist that same day. She wants to give Wavey a thorough exam, to see if there could be anything else going on. She knows Waverly and knows that crying is not at all like her.
I hope we can find some answers. She cried almost the entire time we were at a birthday party this afternoon. She is unable to be comforted. Her eyes well up with tears. I truly think she is in pain.