But I think if it was me, I might draw the line at invasiveness. EEGs and EKGs aren’t that bad (in my opinion) but I’m pretty sure she would need to be put to sleep for a MRI. Whether or not that would be a problem for you is a personal decision, I guess.

Some of the other tests you’ve listed I’m not familiar with, some I am. But I would look at what was involved in each test. And weigh it in knowing you might well find something to help your child and, if not her, then something that might be beneficial to others down the road.

We all want (some of us demand all the information available and to learn about all the various treatments available when our child is diagnosed with something, but the doctors have to get that information from somewhere.

Another thought, she is a little young for this but it would be nice if you could add to the trip and turn it into something she would enjoy. A special place to go or special people to visit. To sort of balance out the rest of it.

Good luck with whatever you decide!

My son is in a genetic study at NIH for his disease, Methylmalonic Acidemia with Homocysteinuria. We went last year, and are set to go back again in the fall. We stayed at the Children’s Inn while we were there http://www.childrensinn.org.

Like you, I was so nervous about going. He is also a one of one with his disease…the way it manifested in him has not been found before. I knew they would be intrigued by him, and want to try to figure him out. When we got there, we checked into the Inn, and the volunteer who showed us around the Inn was the one to ease my worries first. She got down to my son’s level, and spoke to him the whole time. He’s non-verbal, and yet, she spoke to him as if all of this was just for him.

The check-in process at NIH was simple, then the tests, and meetings with doctors began. It was very tiring, but they were all very aware of that, and of the stress on my son. If we needed to take a break, we took a break. Once they were trying to get a blood draw, and just couldn’t get one. We went to the main clinic where all of our doctors were meeting with us, and asked the nurse what to do, because we didn’t want him to be poked again without a draw. She took him into a quiet room, we got him calmed down, then she gently wrapped him into a sheet while the phlebotomist got the stick he needed.

Yes, they paid for the trip, and everything we needed while we were there. But we left there with more knowledge of our son and his disease. We left knowing that if ever we needed the best of the best to help us in a crisis, we now have it. We left with hope that one day, by being a part of their study, another baby might not have to live with the same disease.

I just wanted to offer my insight as a parent that’s made the same hard decisions. Hope it was helpful, and best of luck with your decision making.

Bless you as you decide what to do.