And for the rest of the story…

Posted Monday December 19, 2011 by Melissa

Cognitive testing

Sometimes I wish that I could say this clinical trial is all unicorns and roses. It IS wonderful, don’t get me wrong, but it is hard, and it has been harder on some than on others. There have been enough problems with this port-a-cath device to fill pages. There are several boys currently without devices, receiving doses by lumbar puncture under general anesthesia each month until their bodies are healed enough for a new device, but that certainly is not a long-term, lifelong solution. Some kids have shown dramatic responses, others not as much.

But really, all we’re all trying to do is just give our boys and our families a better life, a healthier life, a longer life. And that, I think and hope is happening.

So, the nitty gritty…..

Two significant developments last month. First was the result of the CSF white count. White counts are tested by taking CSF off the port (or from a lumbar puncture) before the dosing, but after dose #4, they don’t wait on the results before dosing. Well, Case got his dose, but his white count came back at 15. Under 5 is normal. So… we are guessing that his port is likely broken. I was heartbroken because the longest this port had lasted was 12 months, so we were hoping that it wasn’t a fluke. We are at 12 months, so we’ll see what it shows at the next dose and if port surgery is in our near future. Please pray that somehow the results are back to normal, although we’re not sure what we would then conclude caused the increase. Like I’ve said, a clinical trial is never a place to get too comfortable.

The second significant thing was that last month was Case’s 12-month cognitive testing. While I hoped for a huge jump, simply to substantiate the amazing changes we have seen, I know in my heart that it is just a number. The goal is, and always has been, stabilization. And frankly, since cognitive tests are normed by age, at this stage, even what shows as a loss in cognitive points could actually be a stable level of cognition and skills. On the flip side, a stable cognitive index is indicative of learning and improvement commensurate with their level.

I love graphs. I am a visual learner and I love the ability to visualize the positives, negatives, facets, and intricacies of data. If you could look at the graph of a child with MPS with cognitive affect, you would normally watch a steady or steep fall after the age of 3 or 4. There might be periods of stabilization, but the fall continues.

It is the fall that chills the hearts and haunts the dreams of MPS parents.

Cognitive testingHere is a visual of Case’s cognitive testing to date.

Numbers do not mean everything. Our kids are notoriously difficult to test because of their hyperactivity, motor challenges, and lack of attention span. But what these numbers represent are the minimum level of functioning, and they may be below their potential level.

So when you see that initial dramatic drop from 2010, visualize what WOULD HAVE BEEN had Case not entered this trial. THAT is the true difference this has made.

Santa Case

Santa Case, as we like to call him

But frankly, these numbers don’t even tell the whole story. Here’s some examples:

  • I’ve now forgotten the last potty accident Case had. It has been at least several weeks, INCLUDING nighttime.
  • Case goes into the bathroom by himself, closes the door and tells me to “stay out there” while he goes all by himself. I only help him with wiping and buttoning his pants.
  • He walks alongside me to and from the car at most places, except busy parking lots.
  • He now tells me what shows and toys are his “favorite.” His current favorite movie is Night at the Museum and he watches it in awe and laughter.
  • He dresses up as Santa Claus, asks me to sit on his lap, and asks what I want for Christmas.
  • His hand control (and impulse control) for writing, tracing, and drawing has noticeably improved over the last several months.
  • He understands timeouts (which came awhile ago), but with the significant improvement that now after the 3-minute timeout, he gets up and goes and apologizes to the person he wronged, telling what he did (“Brock, I’m sorry I hit you. You forgive me?” is a common phrase.)
  • He now asks me if he has permission to do many things – “Can I have a snack? Can I be excused? Can I go to the family room and watch Gabba Gabba? Can I come too?”
  • His dexterity has improved – he is now stacking regular small Legos and doing apps on my iPhone.
  • He blows kisses to me all the time.
  • When I say thank you, he automatically replies with “You’re welcome” in crystal clear language.
  • He comes to me with a sly smile, gets cheek to cheek with me and says, “Mom….. I watch puppies?” He wants to watch Beverly Hills Chihuahua 2 that our friend Angie gave him.
  • Sitting at infusion the other day, he just sets his hand on my lap. Then he rubs my shoulder, then he grabs my hand to hold it, then he just sets his hand on my lap again. Life…could…not…get…any…sweeter.

76? Fabulous! But that’s only one tiny piece of the story.

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One Response to “And for the rest of the story…”

  1. oh my goodness, melissa. tears. what a wonderful update and good context you provide. i have to say, i am most impressed by the potty training, and the walking side by side with you most places. i dream of these things!!!

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