The most important thing I can recommend is finding a good PCP to make sure you have a medical home. That doctor should keep track of everything and keep the puzzle pieces together for you. I'm hoping that's already your pediatrician. From what you write, it seems like each specialist is stumped and is each trying to treat symptoms as they see it. Let's say we can't find what is going on, this is what we would be doing anyway. I say if things have been continuing to worsen, you may try another hospital system. I'm partial to Mayo, CHOP, and Children's National. On the other hand, you may have to consider that there isn't much to do but keep her comfortable. Palliative doctor's role are just that, keep people with chronic disease comfortable. That may include working with PTs, pain specialists, and whatever other tricks they have up there sleeves.
Thats been our understanding. Genetic testing is like the final puzzle piece once all of the other testing is done, and narrows down the list of possible causes. The geneticist said there was a list about 30 things long that he thinks it could be, but wanted further testing before divulging them, which I get.We have seen 4 childrens hospitals but the specialists span. Weve seen 1 endocrinologist, 1 allergist, 4 neurologists, 3 rheumatologists (our new rheumy actually suggested another opinion since she was out of ideas too), 1 GI, 2 geneticists, 1 orthopedic surgeon, and 1 ophthalmologist. They were supposed to be coordinating on a team that diagnosis rare diseases, but when she remained asymptomatic, we held off. We didnt want to put her through anything more if the tests would be inconclusive, under the direction of the team. But red flags have been popping up over the past few months, and theres been a lack of response or a shrug. The atrophy was so bad in the knee last year that she could barely walk. The muscle/tissues/whatever it was never grew back, and she cant walk more than a few minutes. PT is concerned that with the loss of knee support, the ankle atrophy is going to be detrimental. Which is how I ended up here. Her pediatrician finally got neuro to call us and shell now be getting ultrasounds of both legs.I wanted to take a list to her doctor and say could it be any of these?Shes spent most of her life in constant pain, in doctors offices, and its just killing us. I want her to have a normal life, and if she cant, I just want to make it as pain free as possible.