We left early Wednesday morning to fly to Washington D.C. Although neither of them slept at all during the flight, Bryce and Annalise did a great job on the plane.
Bryce loved watching the luggage fall onto the carousel. He would laugh each time one came down.
Other than an unexpected adventure as we headed out of Baltimore and into Washington D.C, the trip went very well. We spent most of the day Thursday (from 8:30am to about 5pm) at Children's National Medical Center. We did get a lunch break where we enjoyed a complimentary (thanks to the team of doctors we were working with) lunch in the cafeteria. The picture below is taken right inside the entrance. The kids both loved looking up at the Hot Air Balloons.
The place was very comfortable (for a hospital anyway), and the people we worked with were phenomenal. It was a long day but we got what we were looking for. No, we still don't have any definite answers as to what is going on with Bryce and Annalise, in fact if anything, we may be heading back to square one, but we do have a few new game plans. We got a lot of questions answered and some ideas for other medications that may help with Bryce and Annalise's spasticity and pain without the negative side effects we have seen along the way. The physical medicine doctor, Dr. Evans, also helped us "fix" Bryce's chair since it has not been doing it's job well and it was really bothering one patch of skin after being in the chair more than normal while traveling. Since being home, I've made an appointment with the wheelchair clinic here to take care of the other issues with his chair.
Okay, so what did we find out from Dr. Vanderver and where do we go from here? Bear with me, I have a feeling this short version is going to be kind of long. After looking at Bryce and Annalise's MRI's, CT scans, and records (which she did before we even got there) and examining the children, she said that she would not say that they do not have AGS, but she is also not willing to say that they do have it. She said that if they do have it, it is not a classic case of AGS. Although their symptoms do look a lot like AGS, their MRI's and CT scans do not! We know that they are carriers of AGS, and she said that in extremely rare cases, children with AGS can show symptoms with only one gene mutation, but that since John is also a carrier...and has no symptoms...this is very unlikely to be the case with our children.
So, the first plan is to search just a bit further to see if it is indeed AGS. There is a place in Denver that checks for deletions. It is similar to what Dr. Crow in England did a while back, but their method of searching is different and thus worth trying that route.
The other thing she said that we could do is to send some spinal fluid from the kids over to a researcher in Paris...the only person in the world who does this specific test for AGS...and have him test it. However, getting spinal fluid is much more difficult than drawing blood and since both of the children have had it taken before, she called to find out if either of the children had "left over" spinal fluid that we could use for this test. Annalise did not, and Bryce did. However, Bryce's was drawn back in 2008 and so the numbers could have changed drastically since then, making that fluid really not useful. So, Dr. Vanderver suggested that we see what we find from Denver and then go from there.
Most likely the next step will be an entire exome sequencing. She believes that this is actually the best next step considering what she has seen in the children's records and MRI's. She said that they look very unique. They just don't call out to her any specific disorder, especially one that has not already been ruled out by tests that we have had done in the past! This really means something coming from her, because as the genetic counselor told us before we even met with Dr. Vanderver, she (Dr. V) has a sort of gift for reading MRI's. In about 25% she looks at the MRI and just knows what is causing the problem, in about 50% she doesn't know for sure, but has a pretty good guess and is usually right, and in the other 25% she really just can't tell. We of course are in the other 25%!
The good news about the exome sequencing is that it has come down in price considerably over the past months and many insurance companies are beginning to pay for the sequencing. The bad news is that the sequencing is actually the easy part and what ends up costing a lot and taking a lot of time is the analyzing of the data that comes back from the sequencing. And in a case like Bryce and Annalise, the people doing the analyzing, don't really have a starting point. They don't really have any "short cuts" they can take by what we already know. They would just have to go through it piece by piece and that could take years and lots of money. However, with all things considered, this looks like it is going to be the best...and possibly the only other option at this time...unless of course the people in Denver find something.
So, that is where we are at now. While there we had blood drawn from all 4 of us and we have been added to a research study that they are conducting. The children's blood has been sent off to Denver and so we now wait to see what comes of that. Dr. Vanderver will be sending us a copy of all of her notes from our visit there and all of their suggestions which will be very helpful, since I am sure we have already forgotten many things that we talked about while we were there. They are also going to continue working with us through our neurologist here, and helping us in any way that they are able to. As of now, we do not have any plans of going back to their office in D.C., but that may be something that we will need to do in the future.
So, the mystery continues for these two little fighters. It's really tough not having answers, not knowing what is causing the regression, not knowing what to watch for, not knowing the prognosis, not knowing what we can do to help, not knowing what to research, not really having any idea of what the future holds for our special children.
I have decided that for now, since we don't have any concrete evidence that either of these two is going to leave us anytime soon, I am going to believe they will be with us for a very long time and I will work hard everyday to make sure their life is as happy and healthy as possible...all while maintaining as "normal" of a life for the rest of our children and our marriage as we can. It is definitely a balancing act! It is super hard every single day and would be completely impossible to accomplish without your prayers, support, and the constant help we receive from the Lord. Thank you!