February | 2012 | The view from my tent

Things are shaping up for Ben’s appointment at the NIH. I’ve spoken with the patient care coordinator and gotten an idea what to expect.

The study in which Ben is participating is the Clinical and Molecular Manifestations of Inherited Neurological Disorders. The study is what they call a “natural history study,” meaning the doctors focus on diagnosis, but don’t include interventions or treatment. Doctors have previously decided that Ben has an undiagnosed genetic disorder. Because uncommon genetic disorders are very difficult to diagnose, we have had to experiment to find an effective treatment for him, and we don’t know what to expect in his future. We certainly didn’t see the loss of vision coming.

This study includes patients who, like Ben, have an undiagnosed genetic disorder that affects the neurology of the patient. Dr. Carsten Bonnemann will direct the three days of studies. The first day will consist of meeting with the team to go over Ben’s history, and a PT evaluation. On day two, he will have a sleep-deprived EEG and an electromyogram (EMG). On day three, he is scheduled for sedation so they can do an MRI, a lumbar puncture, and an examination of his retinas. These are the tentative appointments – they may add or subtract tests as they see fit as we go along.

When I explained to Ben that he had been accepted into the study, and what it would entail, he said, with much enthusiasm, “I’ll feel like an alien being probed by scientists!” No White Coat Syndrome here! I do ask for your prayers for him, as some of this will certainly be unpleasant for him.

The NIH is covering three of our four plane tickets, all the tests involved, and our accommodations at The Children’s Inn … which looks like a fun place! I’ve been told it is right on campus, across from the buildings where Ben’s appointments will be, so we won’t need transportation. We feel very blessed. Our prayer is that, at some point, we will know what it is that Ben has. Perhaps that would lead us to treatments. Maybe not. At the least, we hope to know what to expect down the road.

Speaking of treatments, the “experimental” steroid therapy continues to make a huge difference. Praise God! I keep saying that Ben has had the best year of his life since he had that first treatment in January 2011. I am so thankful that he is able to partake of life and enjoy it in his own way. What a difference!

Some of you may have seen my post on Facebook, that we aren’t able to get tickets to tour the White House, the Archives, or the Bureau of Engraving. I’d really hoped to get inside those three, but we’re going to be there at a busy time of year, so all the tickets are already taken. I still hope to see the White House exterior (we were there once when Ben was 9 months old), as well as Ford’s Theater, the Museum of American History, and the Holocaust Museum (we’re finishing up Corrie Ten Boom’s The Hiding Place in school). We fly in the day before his appointments begin, so I’m hoping we’ll have time to explore that afternoon. We fly out late the day after his last appointment, so I’m hoping we’ll have more time for fun that day. We’ve got to cram in some adventure whenever we can!

You see, I was thinking back to the first few weeks after Ben lost his vision. He was struggling with schoolwork one day, and he said to me something like, “I don’t want to be legally blind. Why did God let this happen?” I didn’t know how to answer him. I was honest with him, saying that I didn’t know. “But,” I added, “we’re going to make it an adventure.” He asked me how we would do that, and I honestly answered again that I didn’t know, but that we would. And we are.