Waverly is having a very difficult time. The past 6 weeks have been rough and the past few days have brought many more changes. She is still crying/whining almost constantly. Last week I took her in to see our PMR doctor, hoping she would be able to give us some answers. Waverly's walking is getting worse. She is crouching as she walks and seems to be in pain with each step. The doctor agreed that Waverly looked very uncomfortable, but her range of motion was still as it was 6 months ago and there were no signs of any problems that she could see. She suggested we consult with neurology and genetics (we see both within the next 3 weeks).
To keep things interesting, she has started having more difficulty swallowing. I have been able to give her textured foods - tiny pasta noodles in sauce, soups with veggies, rice & beans. She simply cannot eat those items anymore. This become quite clear when she threw up her dinner, after gagging on some star pasta. I have been back to making simple purees and we started giving her Pediasure to keep her calorie count up.
In addition to the constant crying, she is beginning to look more "vacant". I am finding it more difficult to get good eye contact and I feel like she is often looking through me. Last night after we put her to bed, I heard her thrashing around in her bed. I went in to lay with her and she was so upset. After watching her for a few hours and doing some research late into the night, I think she may be having seizures (very common in children with Sanfilippo). I am going to record some of the behaviors tonight to show our neurologist in a few weeks. I hope after meeting with him and having an EEG done, we may get some answers.
I feel like I am constantly guessing at what it could be, trying to find an answer. Ultimately, I know it is all Sanfilippo related. We can still treat some of the symptoms of the disease and alleviate some of the pain/discomfort she is experiencing.
I was reminded once again last night just how awful this disease it. And beyond the pain I feel in watching it slowing take my children away from me, it is a horribly painful experience for Waverly & Oliver. Watching her last night - eyes wide open staring at me desperate for help, body in constant motion unable to settle, thrashing around her bed her body exhausted - I cried for her. I wish I could take away her pain.