Our visit to the NIH

We recently took a trip, not to be confused with vacation, to the National Institutes of Health in Maryland to participate in a research study. This study is for CDG’s and will give researchers knowledge to *hopefully* help people in the future.

The first thing you will read when consenting to the study is it is voluntary. It’s voluntary and you can withdraw at any point. It also clearly states that you may receive no benefit from taking part in the study.

Most of this I disagree with.

It may be voluntary but it’s necessary. It’s necessary for children like mine to participate. Without them, there is no study. Without them there is no treatment. Without them there is no possible cure.

We were all in. We didn’t travel all that way, pause our every day lives to half-ass it. If we wanted to withdraw or skip a procedure then why go at all? It’s a years worth of tests and appointments packed into 5 days. Grueling. Exhausting. Heartbreaking. Yes, it was extremely hard to put Christopher through some of the procedures. He is severely developmentally delayed, so telling him to be still is like telling our 8 month old to be quiet. Not going to happen. We had to hold him still for x-rays, dad had to bear hug him for labs, the DVD player was our best friend as we tried to distract him day after day. Reason and reward don’t work for him. We just do it. The tears weren’t easy to watch. It was heartbreaking when he looked at us as if to ask why?  He had no idea the driving force behind it, and he never will.

We did benefit. We did learn quite a few things about his body that we didn’t know. He has some liver disease going on and kidney issues that we are following up on. Hopefully with the recommendations from the team we can help his liver, which will help everything else. On our next trip in January we will know more. (Good vibes, prayers, and positive energy sent his way would be appreciated for his liver disease.)

We also learned things we suspected. I think preparing ourselves for more “bad news” was the best thing we did. We expected his retinitis pigmentosa to be severe, since he’s already showing symptoms. The ophthalmologist looked relieved when we told him we already knew he couldn’t see at night. He took a deep breath as he said “you already know?” Yes, we know. And after the neuropsych evaluation when she said her report “wouldn’t be pretty,” we said we know that too. Our 8 month old has surpassed Christopher, so yes, we know he’s severely delayed. We were prepared to hear he has peripheral neuropathy because this is so common in PMM2 CDG. Even though we were prepared it still stings. CDG sucks. It really does.

But you know what doesn’t suck? CDG kids. They are the most beautiful humans on the planet. They have every reason to hate life and they don’t. They love life. They bring pure joy and happiness every. where. they. go. Everywhere. They are bright lights in darkness. They are the warm hugs when you need it most. They are simply amazing.

Taking part in the research study was tough. Would I do it all over again? In a heartbeat. Even though it gave us more worries and diagnoses – Christopher is still the same. He is still a warrior. He is still my sweet little boy who loves Brown Bear, Brown Bear. He is still as manipulative as ever trying to get out of doing hard work. He is still loved beyond measure.

And if our participation can in any way prevent another family from enduring what we do, it is more than worth it.

It’s necessary.