So, we've been back from Minneapolis for a month now and I have neglected to update everyone on our trip. Life seems so busy and finding quiet time to sit and write seems hard to come by. The boys spent the night at grandma's last night, so I have a quiet morning to take advantage of. Also, those trips are always hard on me emotionally and it's nice to take a few weeks and get back into the routine of life before I go back and rehash it all.
Overall, the trip went as well as it could. Caleb LOVED flying! The two airplane rides were probably the highlight for him. He'd watch out the window and say "Mom, we're going really fast!!" and then just giggle. No fear, just all enjoyment (unlike his mom who grabs the armrests with every tremor of turbulence...). I took a picture of him mid-flight with his sunglasses on, playing his Nintendo DS, with his juice and pretzels on the tray. He just looked like he had flown a hundred times. :) I can't say Jarod was as excited by the flying, but after grandma learned a few tricks on the trip in, he was a total trooper on the way home. We got him a big bag of ice and about 20 bags of pretzels and he just ate the entire ride. Kept him happy and no passengers were spit on like on the way to Minneapolis.
Jarod did some abbreviated testing updates on Wednesday and we don't have the final reports yet, but what they told us briefly when he was done was that some of his scores were higher (yeah!) and some were lower. Overall, Dr. Shapiro said it would probably average out to about where he was in June. With Sanfilippo that is a great thing to hear. I've read too many stories of other children losing multiple months of ability between their visits. Doctors, however, are not in the business of giving false hopes and Dr. Shapiro reminded us that the decline for a child with Sanfilippo looks like a stair-step: loss, plateau, loss, plateau, etc. Jarod has already begun his decline as he has lost abilities from where he was a couple of years ago, but hopefully we are on a plateau for a while. And this is why I say these trips are emotionally hard on me. It's easy, when we are at home to just pretend that things are "normal" for us (our normal), but when you are in the thick of the testing and medical procedures, everything is right there in your face. No denying. No pretending. The worst moment for us with Jarod was in the afternoon on Wednesday (the last meeting for the day) when he was supposed to work with a behavior specialist for a while. She wants to get us into a study and wanted to do some observation of him. He had had enough. It had been a LONG day for him and he wanted nothing to do with her. Immediately he started to melt down. He started swearing and yelling and crying. Then he started hitting and kicking us. Then he started throwing toys at her. The day was done. We scrapped the meeting, got his coat on and got him out to the car. Fortunately we haven't had to deal with these major meltdowns as often lately, but when they happen, they are doozies.
Caleb, on the other hand, was a rock star through the whole thing. He was great on the flights. He cooperated with all of the testing. And, apparently, he's like no kid with Sanfilippo they've seen. His neuropsych testing went well. The disease shows itself in his hearing impairment, his speech delays and in his fine motor and motor sequencing abilities. His comprehension, however, is average or above. Dr. Shapiro (the neuropsych) said she has never seen a child with Sanfilippo "as intact" as he is. She even commented in an email to Dr. Whitley (the geneticist) they he is the "most normal child with Sanfilippo she has ever seen". The doctors tell you these things like they are great news (and they are), but I am still trying to get over the fact that he has the disease at all. His diagnosis was like a punch to the gut for me as I never would have guessed that he had it. I'd love to just live in my little world of denial, but that's not possible. The weird thing with Caleb is that his enzyme level is actually lower than Jarod (really almost non-existent), and his last urine test showed his GAG levels within normal ranges. All the doctors can say is that he must have "other pathways" working for him. Somehow his body must be clearing GAG's, but they're not sure how. The scary thing for me, though, is that the disease is still there and it has already caused damage and will continue to do so until a treatment is available. I cringe every time he has a hard time finding a word and I just can't imagine ever see him not totally connected to the world like his is now.
As far as Thursday (the big day), everything went fine. That was they day the boys were both under anesthesia for MRI's and spinal taps (lumbar punctures). I was apprehensive to start and I got more nervous when the nurse explained that the boys would be intubated since they would have to administer a paralytic to keep them totally still for the procedures. But, both boys did great and the doctors were able to get all of the information they needed. We haven't gotten any reports back for these procedures yet, but I'll be interested to see what they found.
Now, we are back home and back in the normal routine. Mark and I are trying to take it all one day at a time. We have good days and bad days, but overall are trying to stay strong for the boys and do whatever we can for them. We are blessed that our boys are doing as well as they are in the context of the disease. Many parents with Sanfilippo kids don't get to share the experiences with them that we do. We just have to try to appreciate every moment for what it is. The danger for me is travelling down the road of what the future holds. That's when I break down. It's hard to let go of the dreams you have for your kids, but one by one, I'm letting those balloons fly. The future is a blank slate and we have to do our best to appreciate today for today. That's not always an easy thing to do...
Thank you again to everyone who has supported us over the last nine months or so. The financial help we have received has allowed us to make two trips to Minneapolis to meet with specialists, two smaller trips to Chicago to get both boys into a drug study, a trip to St. Louis for the MPS family conference where we were able to connect with other MPS families and learn more about the diseases, and to add speech and OT to both boys' regimens so that we can try our best to help them hold onto the skills they have for as long as possible. And thank you, as always, for your prayers and well-wishes. I know that they are what keep us strong every day.