January 26, 2012 mcfadyena

Cardiology & opthalmology

Good news! GREAT news actually. Trey’s C1 or his top vertebrae is ossifying (turning into bone). In people with MPS, the top vertebrae doesn’t form completely. It is what leads to neck instability. When Trey was diagnosed, we were told his C1/C2 was unstable because it was not hard bone, but more like cartilage. We were also told that build up of GAGs in his neck is causing spinal cord compression. Not severely, but somewhat. This is typical. The combination of spinal cord compression and instability is very dangerous. Paralysis if you fall the wrong way kind of dangerous, meaning no gymnastics, horseback riding, contact sports etc. However, we found out at Trey’s orthopedics appointment this week, that Trey’s C1 is ossifying and that he has NO neck instability. With MPS, we hope for stability, no progression. But for the opposite news, that he is improving? YAHOO! Trey’s MRI showing spinal cord compression was taken before Trey’s first intrathecal dose, as part of the qualifying tests in August 2011, so I am curious to see what the end of study tests show this March.
Opthalmology… last year we found out Trey has some ‘changes’ in his eyes. White spots that cause issues first with night vision, then permanently. However, during my ‘Oh My God my kid is going blind but maybe not if he qualifies for the intrathecal trial’ scare, I called Dr. Muenzer and he said no, these changes do not cause blindness in MPS II. They can cause eventual night vision issues, but not yet in Trey. Last Thursday we found out those spots are still there, but still not causing any vision issues. Trey still has 20/20 vision. We have been sent off to get electroretinograms and photos of his eyes, but because the issues caused in the eye in MPS II cannot be treated with glasses or surgery, drops or anything else, I’m going to push them off. We have enough appointments right now and the information will not do anything for Trey.


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