June 7, 2011 mcfadyena

Yearly appointments

Trey & Nicklas Harkins (MPS I) at the MPS Cup

The above photo is of Trey & Nicklas Harkins (MPS I) at the MPS Cup a couple weeks ago. It’s not the best photo of Nicklas, but Trey was so proud and excited to take a picture with Nick (he looks up to him getting infusions and having MPS and all), I thought I’d post it. It’s pretty cute. 🙂
We had a bunch of follow up appointments in the past week and a half: nerve conduction tests, abdominal ultrasound, cardiology, rheumatology, opthalmology & orthopedics. We’re waiting to hear on nerve conduction & ultrasound. However, the U/S tech noticed something in his abdomen & asked me if anything has been protruding. We noticed this about 8-9 monthes ago and Dr. Muenzer told me what it is back in January, can’t think of the name right now (pregnant women get it after having babies when their abdominal muscles are stretched apart in the middle of the abdomen). Anyways, we now have a picture of it, so when I go to speak with Trey’s biochemical doctor, she can fill me in. Cardiology was good. No changes in a year and a half, which was when we saw Dr. Human last. Rheumatology was relatively good. Not many changes, if any, to his joints, but Dr. Petty noticed something on his knees, he said he’d follow up with Dr. Stockler (biochemical doctor) because he has no idea what it is and get back to me on. Orthopedics was also good. Trey’s neck (which can be unstable in MPS) has not changed in a year since we were last there & his L1/L2 (where kyphosis happens) is better than a year ago. We’re going to have an MRI of his spine done to check spinal cord compression.
The bad news, that I haven’t adjusted to yet, is about Trey’s eyes. Dr. Gardiner noticed retinal changes (which is rare in Hunter Syndrome, ha!). She said she should be seeing all orange when she looks into his eyes, but she saw orange with yellow spots. Trey’s vision test is not changed from last year, which is good and means his retinal changes are not affecting his vision at this point, but they will. And the bad thing about this is that it’s a progressive disease and glasses cannot correct this problem. Retinal dystrophy, as Dr. Gardiner called it, first affects night vision, then peripheral, and then all vision.
At this point, I’m holding it all in, which is why the lack of emotion here. Ryan’s at the hospital for his mum right now who is on a breathing machine & we have this trial assessment coming up. I just wonder how much can go wrong in someone before their bodies give up… At age 7, Trey’s little body is already dealing with so much. Okay, too much emotion there. I’m leaving for yoga. And gonna breathe.


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