Hard to believe that it's almost been a year since we first learned of those horrible (when put together) 3 letters of the alphabet. (M.P.S.) It was last April when we first found out Jasper has some form of Muccopolysacharidosis. Last spring/summer was crazy busy with visiting all the specialists for baseline testing. Now, I guess we need to prepare for the yearly follow up with all of those specialists again.
Most recently, Jasper had a follow up opthamology appointment as well as a visit with the cornea surgeon. We had seen the opthamologist in October already after only a week or two of treatment. At that point she noted some cloudiness in Jasper's corneas, hence the suggestion to meet the surgeon, as one day it may be necessary for Jasper to have a transplant in this area.
We were surprised (as was the eye doctor herself) to hear her say that she was thinking his eyes didn't look as cloudy as they were in October! That would be amazing to believe. Almost too good to be true. Naglazyme has never shown any concrete results to say that it could reverse the effect of corneal clouding, so I think that is what's keeping me from believing it's true. I'd like to with all my heart and soul, but I believe we need to take that information with a grain of salt. She was never able to actually measure the amount of 'cloud' back in October cause she couldn't get her gauge to work quick enough before Jasper would flinch and she'd have to start over. Therefore, all she has to go on is her recollection and her notes that she made compared to what she saw this week. Don't get me wrong, I still see it as a positive because at the very least, she didn't say they've gotten worse.
In addition to that benefit, we do have one measurable improvement that can be 'taken to the bank'. Weekly at the ERT appointments, they do their best to get a urine sample from Jasper. Beginning back in April, before treatment started. I asked our Dr to chart the results for us and the chart revealed that since starting treatment the GAG levels in his urine have dropped by almost 70% down to just over what a normal 3 year old without MPS would measure and has stabilized there. What this means is, while the drug isn't PERFECT at removing the GAG waste, it is helping immensly. Almost enough to the point where there should be no more than normal waste buildup in organs, bones, corneas etc.
Aside from that, there aren't any noticable changes in J. We had our kids ability initial visit in February as well, and they have recommended monthly physio and occupational therapy visits just to monitor, advise and help keep his joints moving well.
The HIGHLIGHT of our February by far though was the tour East on the 401. Primary destination Campbellford ON with a stop over in Bowmanville. Many of you know, there are 2 other cases of MPS in Ontario. Justin is 30 years old and lives in Bowmanville with his parents. We have been email and Facebook conversing with him over the past months, but took the opportunity to go and meet with him and his mom last weekend. He is a fantastic individual, and I'm amazed at how well he's fought MPS VI in his 30 years. It was very good to finally meet him in person.
After a good visit and a few photos, we loaded back up in the van and headed further East to Campbellford. We've met Isaac and the McFadyen family a couple times already and as most of you know too, the amazing history between our families that exists beyond that. We accomplished a lot during this overnight stay in their home, but perhaps the most important thing we did was further secure our friendship and our deep ties.
All 5 kids played exceptionally well together all weekend. Both indoors and out. The parents got lots of opportunity to share and swap more stories and tales and advice regarding our 2 affected boys. Pam and I are very honoured that they have asked us to join their foundation officially as board members. So watch out we now have even more purpose to ask you for fundraising dollars:-)
And speaking of fundraising.....It's going to be a busy summer/fall. Stayed tuned and check back often for the next post which will contain and detail the coming events.
Take care everyone.
God bless.
