Friday morning, Grayson had an appointment with Dr. K, our Mito specialist. We left with no new prescriptions or tests ordered, but it felt like a “big” appointment. I’ve been thinking about it all weekend, and want to write the details down for reference later.

First, we met with the social worker who works in the office. She is wonderful. She truly cares about the patients and families and is willing to do whatever she can to help. She helped get the ball rolling to order Grayson’s new hospital-type bed and made changes to our letter of medical necessity quickly. The bed should be delivered in the next few weeks- I’m excited to get it into Grayson’s new room and get him out of a crib and into his “big boy” bed! Friday, we talked to the social worker about possibly getting Grayson a wheelchair to replace his medical stroller. I’m looking into whether or not this is something we need to do right now.

As you know, Grayson did not get into the clinical trial for Epi-743. Last I heard from Texas Children’s (our local site for the trial) there were questions about Grayson’s MRI. Dr. K did give us an explanation as to why, after all this time, Grayson still is not on the drug. Basically, Grayson does not have “classic” Leigh’s Syndrome, which we knew. His brainstem and cerebellum are not damaged, but he has white matter disease, demyelination on the majority of his brain, and all the characteristics of the syndrome. Read this. This is Grayson, on paper. Dr. K is confident Grayson does have Leigh’s, but for clinical trial purposes, TCH would say that he does not. It’s so frustrating. She did say that the day the FDA approves the drug, we will have a prescription in hand.

Of course, we still do not have genetic confirmation of Grayson’s disease either. Our last real consideration of genetics was almost 10 months ago, just days before Charlotte was born, when we saw the geneticist who said for now we are at the end of the line for genetic testing. Well, now there’s a new test that will test about 100 more genes than we have before. So Grayson and I had our blood drawn Friday, and Ryan will go tomorrow. We will get the results in 4-6 weeks; I’m not optimistic or hopeful we will get any amazing insights, but hey, what’s a vile of blood?

After this, we talked about Grayson, and the impact the disease is having on his life right now. I asked Dr. K what her opinion is of Grayson’s mental capabilities. His interests are so narrow, and he is calmed by the familiar and things that have been familiar since he was a tiny baby. And then there’s his stiff little body- the body that betrays him more and more every day. The body that jerks and trembles and vomits and seizes. But what is going on in his brain? My fear was that Grayson was “trapped” in his body- that his brain was capable of so much more than his body was allowing him to express. Dr. K gently told me she cannot know for sure, but she thinks his cognitive level is that of a baby, and this is why baby toys and calming techniques work for him. His brain is grossly abnormal on an MRI scan- and this is hard, scientific evidence of what we see every day at home.

This insight both breaks my heart into a million pieces and gives me great comfort at the same time. I’m comforted that Grayson has no idea what he’s missing and most likely isn’t frustrated trying to express thoughts or emotions. I’m comforted that when he’s lying in his bean bag chair, sucking his thumb listening to Veggie Tales for hours, that he’s content and satisfied. I’m comforted that we know how and are able to keep him comfortable and content.

But still- heartbreaking. This just isn’t how it’s supposed to be for a 3 year old little boy. He’s supposed to be growing, and changing, and learning, not stuck in an infant state forever. And of course we will never stop giving him opportunities to learn and develop- he will continue with school, therapy, and family activities as long as he is able.

So yeah, a lot of big, heavy topics discussed, but no big changes in care. And life goes on.