We are exhausted.
We spent last night at a hotel in Silver Spring, Maryland. It was only a short drive into D.C. to get to the hospital this morning and we didn't run into ANY issues with inauguration traffic at all!! Gavin loved the hotel experience. He walked all over the room and climbed on all the furniture. When we put him to bed in his Nickel Tent travel bed (which we are in love with, by the way) - he started giggling as soon as I turned off the lights. And he didn't stop giggling until he fell asleep.
If you missed why we were headed to Children's National Medical Center - here is the Cliff Notes version:
Gavin had genetic testing done that came back saying he could possibly have Congenital Merosin Deficient Muscular Dystrophy. Not good. In order to confirm it 100%, he would need a muscle biopsy which is under sedation. Not good. I found out that the expert in the country (maybe the world?) in this type of rare muscular dystrophy was a doctor at the National Institute of Health named Carsten Bönnemann. I found his assistant's email on the internet and brazenly wrote to her hoping to somehow get to him. My dramatic email was titled "Letter from a desperate Mom..." Meanwhile, an appointment was set up with Gavin's neurologist, geneticist and a neuromuscular doctor - all at DuPont, where Gavin goes for everything - to discuss what to do about this possible diagnosis. They did not know about my email to Dr. Bönnemann's assistant or my plot to get in front of him one way or another. I figured we could skip the testing by having him see Gavin - since he sees this type of disease all the time. I went to the appointment at DuPont with my speech prepared - hoping to convince them that Gavin needed a trip to the NIH and could they help make it happen. Well, halfway through this appointment, the neuromuscular doctor said, "You know, there's a doctor at the NIH that I would love to get Gavin to see. Let me make a call." That doctor was Dr. Bönnemann. I could have fainted - it all came together so perfectly.
My email was not in vain, though! Dr. Bönnemann's waiting list was very, very long. He and his assistant came up with a way to get Gavin in quickly - which was to see us at Children's National on the one day that he was there. I was so excited and very grateful.
(Sorry, I guess I can't do condensed versions of anything...)
I was put in touch with a wonderful nurse practitioner that works at Children's National - Meganne Leach. We emailed each other back and forth many times before today's visit. And I had all of Gavin's medical records shipped to them ahead of time. They must have gone to D.C. in an 18 wheeler - there were so many!
The purpose of the appointment was to determine if, indeed, Gavin had Merosin Deficient Muscular Dystrophy... and if not, to see if he had any ideas of what he could have or what we could do next. Meganne examined Gavin first and went through his entire history from conception to five years old with us. Gavin, as usual, was sweet and compliant.
Next, Dr. Bönnemann came in and spent a lot of time examining Gavin, too. He did a muscle ultrasound - a better alternative for Gavin than a muscle biopsy. The ultrasound was completely normal and he was able to tell us afterward that Gavin did NOT have Muscular Dystrophy - he was 100% sure. It was a big weight off of our shoulders.
I went into this appointment with Dr. Bönnemann with another goal (and I didn't desperately email anyone about this ahead of time). I found out that the NIH has something called the "Undiagnosed Diseases Program" You can click the link if you want to read more about it. A couple weeks after I read about it online, I saw this piece on the show "60 Minutes" about this very program! They said that there was a waiting list years long. I was hoping that getting Gavin in front of Dr. Bönnemann today might get him an "in" someday into this Undiagnosed Diseases Program.
While he was winding up the appointment, he gave us some suggestions. He wanted some of Gavin's extremities X-Rayed (hands, elbows, ankles, feet, etc.) to show the structure and formation. He thought it might lead to some helpful clues as we continue with genetics now and in the future. And then he said, "Gavin would be a great candidate for the Undiagnosed Diseases Program at the NIH that I'm involved in." I could have fainted.
Gavin has had extensive genetic work ups - much of it groundbreaking. He thought that right now, the program wouldn't benefit him. He's already had the best tests. But in 2-3 years, the timing would be perfect. I smiled and told him to expect a very dramatic "reminder email" of this conversation in exactly 2 years. Lucky for me, he has a sense of humor.
So, the moral of the story is this. Dr. Bönnemann is sure that there is some undiagnosed genetic syndrome or disease going on with Gavin. What it is, he doesn't know. But we do know that it isn't merosin deficiency.
I was asked today if I felt relieved or bothered that I left there without a diagnosis. Neither, really! I've been on this genetic journey with Gavin - and I've pretty much been the driver pushing for each test - since he was a baby. I'm really used to the ups and downs at this point and I know not to get too excited about things - good or bad. I do wish for a diagnosis for him. We may find out a new way to help him. Or a diagnosis might help prepare ourselves...and him...for the future. But, as you know, Gavin is doing remarkably well. A diagnosis won't change that! His progress right now is like a runaway bus. A title isn't strong enough to stop that bus, if you ask me.
I suppose we are back to square one. But we do not regret our trip one bit. Ed and I had so much fun on our overnight with Gavin - it was fun for all of us! We loved meeting Meganne and Dr. Bönnemann and will be keeping in touch with them. And Gavin has that elusive "in" at the National Institute of Health two years from now which is just mind blowing.
We are exhausted.
We are happy.
And we are so grateful for all of your well wishes, prayers and support.