In Layman’s Terms, Part Deux

Had to take some extra time to digest everything – I actually am not completely done but I wanted to get something out there. I’ll update as I research.

NOTE: I signed up for a program called MyChart. This program is available to us through Cincinnati Children’s, and we’ve used it to keep track of Armand’s test results and medications. It is newly available through Amplatz, and will give me a chance to sit and study his test results as best I can without a medical degree. Unfortunately, one MyChart does not log you into all versions through all hospitals, so my Cincinnati account doesn’t “jive” with the Amplatz/Minnesota account. They send the set-up information via USPS, so hopefully I’ll be in to look at things in the next couple of days.

Yesterday we got individual phone calls from both Dr. Whitley and Dr. Utz (both were either in the process of travelling or out of town on Friday). Dr. Whitley was giving us his best estimates from the data he was seeing from the tests that were done on Wednesday.
First of all, Armand’s cerebral spinal fluid (CSF) pressure is actually down. Pressure less than 20 units is considered normal. In July his CSF pressure was 19, which gave us pause for starting on the 4th medicine in the therapy, minocycline (one of the rare but possible side effects of minocycline is increased CSF pressure). After a few weeks on the minocycline, his pressure currently sits at 18, moving in the right direction. If his CSF pressure got too high, it could impact how his skull develops, and could push his brain downwards against his brain stem and spinal cord. So maintaining that normal range of CSF pressure is paramount.

On a tougher note, his MRI showed streaks of white matter, and possible subtle malformations of his skull, the most prevalent one being in what is called the sulla, a small little “cave” that houses the pituitary gland. In July, that area was normal, but now has a mild ‘J’ shape. This could be an indication of mucopolysaccaraidosis (MPS). While the mucopolysaccarides in his CSF were normal in July (5.5; under 16 is considered normal), the levels in his urine were slightly elevated (20.9; this has not risen much since our very first visit in March 2011, when it was 20.6).

For more information on what the heck mucopolysaccarides are, take a peak at our glossary page.

One limitation to how this week of testing is set up is that on Wednesday is when Armand has all his major testing, when he goes in for his MRI and spinal tap, when they draw blood, and get urine. However, we meet with his neurologist on Tuesday, before the MRI. We were told that the radiologists generally take a look at the MRI and pass on basically what they see – the neurologist, Dr. Karachunksi, would be the best one to really interpret it. We are trying to set up some way to possibly talk via email, as talking via phone might be problematic due to Dr. Karachunksi’s thick Russian accent and my crappy hearing.

So what we have is a very general take on the MRI of his brain, that we may be dealing with some demyelination. This is sort of heartbreaking for us – up until now, including with his July results, Armand’s myelin was still growing, just at a “stunted” rate. While him losing some of that myelin is a plausible explanation for his deterioration of skills, it was somewhat of a blindside blow to us.

How Dr. Whitley characterized it (or at least, as the radiologists characterized it to him) is that these negative changes are very subtle, but they are there. There is no loss of actual brain matter, but there may be changes to the signals.

As far as his blood work, there are a couple of things that stood out. One of his liver test, AST, came up high, a measurement of 135; 50 is considered normal. However, a secondary test, ALT, did come up normal, so this does not raise alarms. His albumin level was slightly low (3.6; 3.9 is the low end of normal), but oddly the same test done in Cincinnati in September showed it slightly high. So, really, not much concern there.

Other tests, like his MPS levels, are not done in-house, and take a week or so at least to get back. Hopefully, these will be posted on MyChart. If not, I will email Dr. Whitley for copies and possible interpretations.

All in all, it’s hard to take a lot away from this. We are going to bump up his Ibuprofen dose to better match his growing body weight, and also his minocycline dose now that we’re more comfortable with his CSF pressure. We literally just started at the therapeutic dose of miglustat, and that may take a couple of months before we see effectiveness. Dr. Utz characterized this as somewhat of a battle for his brain, that we may see improvements in some areas and drop-offs in others. They were actually very happy with how strong Armand still is while letting us know he’s not happy (he was in some pain on Monday from his feeding tube – we have it corrected). While not walking or talking, he is still far above other GM1 patients that they are seeing, all of whom have the more severe version.

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