Mark and I had the opportunity to travel to Washington, D.C., yesterday to lobby on the Capitol for rare disease research legislation. We went as part of the group "Rare Disease Legislative Advocates" and had four meetings throughout the day. We were nervous and excited all at once, and certainly felt like "fish out of water", but we will do anything to fight for our children and try to give them every hope for their futures.
Our first meeting was with a staffer from Rep. Henry Waxman's office. We were invited along with the lobby day's coordinator, Julia, as the meeting had been set by an MPS family from California. That family couldn't attend, so Julia wanted another MPS family to join to put a personal story to the need for the legislation. Well, Rep. Waxman isn't a fan of the bill for reasons that I won't get into detail about here (party politics has something to do with it), so his staff member was polite, but not interested. It's hard to hear someone say "I'm sorry for your situation..." and know that at the end of the day, they don't care. We're one family of millions, I know, and there are many stories and many needs, but it doesn't make it any easier.
Our next two meetings were with staff members from Sen. Carl Levin and Sen. Debbie Stabenow's offices. Sen. Levin's staffer was polite, but didn't have much background in healthcare. He did listen to our story, took our information and said that he would look further into it. The bill is still in the house at this point, but we at least wanted to to push for support of any rare disease legislation. Our meeting with Sen. Stabenow's staffer was warmer. She was very friendly, very interested in our stories, took lots of notes and promised to do what she could. Senator Stabenow is interested in matters of healthcare, so that's a good thing.
Our last meeting was to be with Rep. Bill Huizenga, from our own district. Rep. Huizenga actually graduated two years ahead of Mark at his high school and Huizenga knows Mark's family. We were hoping the personal connection would be to our advantage. We arrived at his office for the meeting to find the gentleman working the front desk was a Hudsonville High School grad (where Mark teaches!). Another nice connection from home. Another staffer told us that Rep. Huizenga (can I just call him Bill for our purposes here??) was actually on the House floor voting, so our meeting would be there. He walked us over to the Capitol Building and then to the hallway right outside of the chambers. Bill came out and greeted us, was very friendly, very interested in our story and the legislation, but didn't recognize Mark yet (it's been many years). The connection finally came out in conversation and from that moment on the visit became so much more personal. He listened intently, was saddened by our story, took all of our information, told his staffer to check into somethings to follow up and then took us on a personal tour of the Capitol. He showed us the room containing many of the statues that each state has there, told us historical stories about the rooms, explained paintings and then took us out on the balcony overlooking the National Mall for a photo. What a fantastic gentleman. He stayed with us so long that he was fifteen minutes late for his next meeting.
So, our day ended on a good note. We met some really nice people from all over the country, including three women from the Detroit area, and we felt like we were able to do something proactive. I'll admit that it was overwhelming at times and the road ahead for this piece of legislation is daunting. It's amazing how there is politics in everything. My party doesn't like your party...my organization doesn't like your organization...blah, blah, blah. And here we sit, as parents of children with a rare disease, who would just love for people to work together and GET SOMETHING DONE!! There are so many hoops to jump through, but we'll keep pushing
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.