We attended our first MPS Society Family Conference in St. Louis, MO, July 28-30, 2011. It was both a great and frightening experience, all at the same time.
Where do I start? Traveling with Jarod is always "interesting". I'll use that word rather than many others I could. He is getting less flexible the older he gets, so he is less willing to leave all of his comforts and routines of home behind. He's not big on hotel stays or site-seeing or any of the other things other kids might find fun or adventurous. We have to pack as many of his toys, books, etc. that we can from home - and even still he'll think of something once we are in our destination that he wants that we have left behind. And, unfortunately, his behavior dictates where we go and what we do. He did as well as he could on this trip, but overall it was pretty frustrating for Mom and Dad.
The highlights for us of attending the conference were meeting so many great families who are walking in our shoes and all of the knowledge we came away with from the informational sessions. It's incredible how there is an immediate kinship between MPS families and everyone loves meeting everyone else's kids. We realized, in meeting so many other children afflicted with Sanfilippo Syndrome, that we are blessed that our kids are doing so well. Even as Jarod has begun his decline, he is still physically active and is still able to understand and communicate. I think our children may have been the only ones there not in diapers, if that says something.
The negative? It's extremely hard as a parent of a newly diagnosed child (and now children) to see the the various MPS diseases in all of their stages: kids newly diagnosed who are still fairly healthy to kids whose bodies are so ravaged by the disease they can no longer speak, have limited or no mobility and have to be fed through tubes. It's scary to know that's what lies ahead for your own children. It's hard not to look ahead and wonder how we will manage.
Next summer the conference will be in Boston and we will do everything we can to attend again. The friendships we made are invaluable and I want to make sure we are there each year to help and support others face-to-face just as much as others did for us this year.
Positive results for Caleb...and that's not a good thing.
Last month I let you all know that we had gotten urine results for Caleb that showed high levels of GAG's (glycominoglycans or mucopolysaccharides) which was an initial indicator that he may have Sanfilippo Syndrome as well. While we were at the MPS Conference we got another call from our metabolic specialist (always when we're out of town...) and the enzyme assay came back positive for the disease.
I don't even really know what to say at this point. I've been devastated by this disease since March and still am. We will now be coordinating another trip to Minneapolis, most likely in October, to have all of Caleb's baseline testing done and get Jarod's testing (MRI) finished. But that is just the front end of this lifelong battle we will now be waging against Sanfilippo Syndrome.
Part of me is still in disbelief. I just don't see it in Caleb. His hearing loss is the only symptom I can see. Otherwise he's just a healthy five year old gearing up for Kindergarten. He's smart: he knows his phonics, is starting to spell words, can read small words, loves working with patterns and is starting to add numbers. He is always curious what people's favorite colors are and just the other day said "Mom, Caleb plus Ada (my stepmother) equals Rachel (a babysitter)." His favorite color is blue, Ada's is yellow and Rachel's is, of course, green. Sound like a mind riddled with Sanfilippo, anyone? He doesn't have any social issues, no delays of any kind and other than typical five-year-old backtalk or the occassion "That's it!!" no behavioral issues.
That makes it even scarier for me. With Jarod it was the answer to all of the questions, with Caleb we haven't even gotten to the questions yet. He is nothing like Jarod at the same age. We already knew at this point that something was at play in Jarod - we just couldn't put a finger on it. So that makes me wonder how many years I will get to watch this beautiful boy grow and learn until it all stops and starts to fade. How painful to see all of the potential he has and stands to lose. And what mother can't help but look ahead to possibly losing both of her children?
I have met people who have children with this disease and are so strong. Even the ones who stand to lose both children like me. They are firm in their faith and thankful for every day they have with their kids, confident in God's plan. I can't say I'm there yet. I'm pretty angry. I hope and pray that I will be there someday. I know God created my children exactly the way he wanted them, but I also know that their lives will be so challenging and full of medical needs for the rest of their days here on Earth. I hope at some point I can find the beauty in it all. Keep praying for us Mulders - we have a long road ahead.