So, after waiting for over a year (thanks, NHL lockout…), Jarod finally got his Make-A-Wish experience! What a great foundation MAW is. We have so many great memories. It went something like this:
On Friday, March 29, we travelled to Detroit in a car that MAW had rented for us for the weekend. We were put up at the Courtyard by Marriott and escorted by limo (thanks, James!) to and from the Joe Louis Arena on Saturday and Sunday.
On Saturday we were greeted by Christy from the Red Wings and Brianna and Leah from MAW. We got to tour the lower level of the Joe and then made our way to the entrance to the rink where we waited to meet Jimmy Howard! During our wait we met Chad (cameraman) from Fox Sports Detroit and got Jarod mic’d up for the morning. Jimmy came out fully dressed for practice, along with Todd Bertuzzi, but as soon as he approached us Jarod went into full-on nervous mode. Just stared at him, chewing his fingernails, and then started to walk away from the rink (doing his nervous/mad grumble – mmmmmmmmmmmmm). It took us a good ten minutes (and Jimmy offering him a bottle of yellow Gatorade) before he finally got the nerve up to go out on the ice. Once he did he loved it! He tapped the puck a few times into the net, passed a couple to Bertuzzi who knocked them in, and then finally (after Jimmy moved the carpet out of the way) shot a decent one in. We didn’t see his famous driveway slapshot – he was just too nervous!
After Jarod getting to “shoot on Jimmy Howard” we were taken past the locker rooms and brought right to the team bench, where we got to watch the rest of the team practice. Jarod was on cloud nine. Some of the guys came over and chatted quickly as they got a drink. Jarod got to see what color Gatorade each guy drank (an obsession of his). Jimmy had started the practice with a yellow Gatorade, so when he came over at one point and took a swig of blue Jarod asked “Jimmy, you like blue now?” to which Jimmy replied jokingly “What? It was just closer!” With about 20 minutes of practice to go Coach Babcock asked us if we could scoot down as far as possible and then Jarod got to sit right next to the guys as they intermittently rested between drills. My favorite memory of the day is when Henrik Zetterberg was sitting right next to Jarod and Jarod reached up and put his hand on his shoulder and said “Hey, Zetterberg. Did you get in a fight?” to which Hank replied “A fight? No, it wasn’t me. It wasn’t me. I’m not a fighter.” Priceless.
After practice we were escorted to the locker rooms. As we entered, Jimmy was signing his goalie stick and gave it to Jarod. It says “To Jarod, Best Friends Forever. Jimmy Howard #35”. (Jarod held onto to that stick for the rest of the weekend…) Jarod got to sit next to Jimmy and ask him questions as he got out of his gear. (“What did your mom pack you for lunch?” “Oh, I eat lunch here”). Did I mention that Nik Lidstrom and Tomas Holmstrom were visiting that day?? They were hanging out in the locker room, too, chatting with the guys. J
After practice was done, we waited in the hallway for some final goodbyes and autographs on some items. We got nearly the whole team, including Lidstrom and Holmstrom, to sign the stick and some other goodies. We got pictures with many of them. Hopefully we’ll be able to get some pictures together soon from all of the cameras that were there and put them up on facebook.
As if that wasn’t a cool enough morning as it was, Jarod had a live mic hooked to his shirt and a cameraman from Fox Sports Detroit (Thanks, Chad!) followed us around the entire time. Jarod’s story will be a feature on an upcoming episode of “Wingspan” which is a Fox Sports Detroit production that goes behind the scenes with the Red Wings. We’ll be sure to let everyone know when it is supposed to air! (Of course, that meant some camera time for Mom and Dad, too, which is always a little nerve-wracking…)
The next day we were treated to a limo ride back to the Joe for the Red Wings/Blackhawks game. We had the special honor of sitting in the penalty box during the team warm-up before the game. It happened to be Gordy Howe’s 85th birthday that day, so there was some special celebrating and the team all wore the number 9 on their pre-game jersies. Jarod was in awe. Just sat there at the glass pointing out all the players as they skated by. Did I mention that he knows every player by face? He doesn’t even need their number. Even after practice on Saturday he knew who everyone was, even when they were dressed in jeans and sweatshirts. J I wish I could say the game was awesome and the Red Wings won, but they got demolished 7-1 (at that goal was scored with about 30 seconds left in the game)! Jarod didn’t care. He had a great time just watching them play.
So that was Jarod’s wish! For all of the struggles and obstacles Sanfilippo Syndrome has put into our lives, we have ironically been afforded some happy memories because of it. We will never forget that weekend. We need to give a big shout out to Erica at Make-A-Wish Michigan for coordinating the details, to Brianna from MAW for accompanying us both days, to Christy at the Red Wings who handled all the details on their end and also accompanied us and, of course, to Jimmy Howard for spending some time with our little man and making a dream come true for him. Thank you, thank you, thank you Make-A-Wish Michigan and the Detroit Red Wings for a wonderful, wonderful weekend!!
I’ll get back to the meaning of this title later. For now, let’s start with an update since our trip to Minnesota last month…
I’ll admit I’ve been procrastinating on writing this blog. We’ve been home from Minnesota for three weeks and I feel like we are just now beginning to settle back into our home routine. The time change didn’t help. We haven’t received all of the final results from all of the boys’ appointments, but they did brief us after each one, so I have some information to share.
We’ll start with the positive. On the whole, the trip went well logistically, despite Jarod being out of his comfort zone again. He must be getting a little more used to airports and airplanes, because he did really well on the flights. The best thing we have learned about air travel through all of this is to contact TSA beforehand. When we explain our situation, and that Jarod becomes violent and aggressive if we have to wait in long security lines, they buzz us right through with a special escort. Best thing ever! It has eliminated so much stress from our use of airports. We did have one meltdown at the Mall of America and a few nights of tears before bed, but he went to each appointment and did great…no meltdowns with doctors. Caleb loves to travel, so he usually does great in that regard. He loves flying on planes and is really flexible when it comes to staying in hotels. That makes half the battle easier.
So, the medical stuff… The cardiologist said both boys have some thickening of a wall and some valves in the heart, but the damage thus far is minimal and not of concern yet. Sanfilippo Syndrome can cause damage throughout the body, especially in organs, so this is good news for now. We don’t have results from the MRI’s of their heads and abdomens yet, but we do have pics/video on a dvd – anyone a Neurologist and would like to decipher for us??). The spinal taps showed normal pressure of the cerebrospinal fluid (CSF) in both boys. Sanfilippo can cause elevated pressure and sometimes requires the implantation of a shunt – so good news here, too.
The neuropsych testing is where things get trickier. Sanfilippo causes the greatest damage to the CNS (central nervous system – this includes the brain), so this is usually where we get the “bad” news. We don’t have the final breakdown of scores, but they did give us overview in the office of what they saw. Caleb has stayed steady, even had one of his subscores (non-verbal) increase. However, for as smart and “with it” as Caleb seems, the disease is doing damage. Right now it mostly shows in his language skills and fine motor skills. He is still learning at this point, but they did stress the importance of staying on top of his skills as best we can, which they want to include summer school. We’re not sure how that will look yet. One thing they said that stuck with me was the importance of doing this to maintain skills “because no one knows when learning will stop”. Man, is that hard to hear. It’s easy to live in denial with Caleb because he just seems to “get it”. Where Jarod has always sort of lived in his own world, Caleb has always seems very much connected to ours. I have trouble looking at him sometimes and know that, without a treatment, I’m going to have to watch that all go away. I just want so much for him to be able to grow up like any other kid. But that won’t happen without SOMETHING. For him to have any chance he’ll have to endure pokes and prods, possible surgeries, human trials, who knows what. And that’s only if those options even become available. He’s my little buddy and it absolutely breaks my heart to know all that lies ahead for him.
Jarod’s psych test results were the low point for me. When we first got Jarod’s diagnosis I remember one of the genetic counselors mentioning that, with his late diagnosis, his plateaus might be 3-4 years (the disease seems to travel a loss/plateau pattern rather than a steady decline). If you remember our results from January of 2012, they had basically remained stable from June of 2011. At that point they said he was operating with the mental capacity of a 3-4 year old. I thought we might have more time on that particular plateau. But, now his scores have dropped. I don’t have specifics yet, but they said he is operating with a mental age of about 2 ½ - 3 now. I can’t deny that we’ve seen changes at home. I know he’s losing vocabulary, but I had hoped for better results than that. The only good news they had for us is that he still has “islands of skills” that remain at this point. Things that he can still do that perhaps a 2 ½ -3 year old would not be able to do yet. We have to keep pushing these skills to maintain them as long as possible.
I was on the verge of tears all day. Do you know how hard it is to take in that kind of information and try to pretend with your kids that everything is just fine? I hate this disease. I hate seeing it steal a tiny piece of my boys everyday – and I am powerless against it. But, I don’t want them to see me sad, so I pretend. On some days that is very difficult to do. What makes it even harder is dealing with Jarod’s outbursts and aggression most every day. I wish I could just enjoy the time we have with him, but most days are so full of stress and work that we’re exhausted when we get to the end of them.
So, back to today’s title. Getting rid of the “but”. I’ll admit that I have a lot of anger because of this disease, what it will rip away from my children and my lack of any weapon to fight against it. Some days I want to stomp my feet or throw a temper tantrum and scream “This isn’t fair!!”. And it’s not fair. I’m envious of other people and their “healthy” children and of them getting to watch their children grow into adults. I know I have today (and that is a blessing) and I should be thankful for that, but I want it all. I know that my children are progressing more slowly in the disease (and that is a blessing), but I really wish they did not have it at all. I know I should be thankful that they can still both talk and laugh and play (and that is a blessing), but I can’t bear the thought of them not having those capabilities in the future. And there you have it. I have to try to start living life without the “but”. Despite the tears I shed, I have to find a way to appreciate what I have right now. I can’t continue to worry about next year or ten years from now or who will care for the boys if they outlive me or who will care for me when I’m older or how I will celebrate the holidays without my children or grandchildren down the line, or, or, or. I have to be aware of the blessings that I have right now and appreciate them right now.
I know this blog has gotten long again, but I only update you every few months so I guess that’s to be expected. Bear with me a little longer. Many of you have probably seen, or possibly use, the devotional “Jesus Calling” by Sarah Young. There is one particular entry that always sticks with me. It’s from January 16 and based on two passages, Matthew 11:28-30 and Joshua 1:5, 9. Mind you, this is her interpretation, but the devotion says “Come to Me, and rest in My loving Presence. You know that this day will bring you difficulties, and you are trying to think your way through those trials. As you anticipate what is ahead of you, you forget that I am with you – now and always. Rehearsing your troubles results in experiencing them many times, whereas you are meant to go through them only when they actually occur. Do no multiply your suffering in this way! Instead, come to Me, and relax in My Peace. I will strengthen you and prepare you for this day, transforming your fear into confident trust”.
I’ll leave you with a positive – Jarod still has no idea, but we are only one week away from his Make-a-Wish weekend! Next Friday we’ll travel to warm, sunny Detroit (ha!) where he will get to attend a Red Wings practice, shoot pucks at Jimmy Howard (his favorite), attend a game and have a meet-and-greet with the team. He will totally love it. It’s so hard not to tell him ahead of time, but it’s for the best. Despite all of the lows of this disease, it has provided us with some experiences we never would have had otherwise.
Last, but not least, thank you to everyone who came to our pancake breakfast on the 9th! You kept us busy! Your love and support are irreplaceable to us. God bless you and may you have a wonderful Easter.
This update is long, long overdue, I know, but sometimes our lives feel so crazy and busy that it’s a miracle we get from morning to night each day, let alone find extra time to cram in a blog update here and there. I realize it’s been since May since I’ve updated you on our journey and it’s seldom that anyone comments on my entries, so hopefully there is someone out there to read this after my hard work! J If you’d like to know what’s happening in the lives of the Mulders, then settle in and read on…this could be a long one.
Let’s start with the good. Of course, the highlight of our year so far has been the construction of our very own in-ground pool. The concept started as Jarod’s wish with the Make-a-Wish foundation. He LOVES to swim and it was the best thing we could think of for him. MAW was going to install an above-ground pool for us in the spring, but when a family friend heard that was his wish he told us to put it on hold and let him see what he could do. That person was Kyle Kalman, of Kalman Construction. He wrote to his various vendors and suppliers and asked if anyone would be interested in helping him take Jarod’s wish one step further to install an in-ground pool for him. The response was great and company after company offered to discount parts or donate product or time to the project. Excavation began in late June and within two weeks or so the boys were playing, swimming and splashing around in their new pool. It was a very exciting project and, although it was sad to shut it down this fall, we are looking forward to opening it back up next spring for another season of fun. Now, this didn’t end up being cost-free for us, but the whole project cost about half of what it would have otherwise and we were blessed with family and friends who did fundraisers for us to help lessen the burden. Please check out the names of the companies who helped make this dream come true on our home page and please support their business if you can!
Another highlight for us over these last few months was Jarod being invited to Davenport University to represent Make-a-Wish last month for a fundraising event. He got to hang out with the men’s hockey team, treated to his favorite food of breadsticks from Jet’s pizza, received a basket of goodies which included a hockey jersey that the players signed for him and being introduced at both the men’s soccer game and the women’s volleyball game. He was a little star for the night and the event was so uplifting. A big thanks to MAW and Davenport University for the special, special night.
Now, on to the bad and ugly. I wish I could only write happy, inspiring updates for this blog, but our life is full of struggles and if you care about us, you should know these things so that you better understand our journey and our fears. You’ll know exactly what we need prayers for.
The bad. We had to make a really tough decision in August. Since April of 2011, Jarod has been in a drug study with a doctor in Chicago. This study is to determine the safety of using a drug called Genistein in very high doses. This is only thing even close to a possible treatment for Sanfilippo Syndrome at this point and it is not known yet if it will have any effect on the progression of the disease. However, when there are no other options, you grab onto whatever is available. His urine and blood tests hadn’t shown any lowering of his GAG levels, but we kept him in the study nevertheless hoping there would be effectiveness over time. In August we went to the cottage on Lake Michigan as we do every single year. But, Jarod didn’t want to stay there this year. So, he and Mark spent most of the week at home while Caleb and I stayed at the cottage. The meds were with me at the cottage, so Jarod didn’t get them for that week. By the end of that week we noticed a marked change in his behavior. Despite the pool, we had an awful summer with his behavior: so many blowups and violent behavior towards us and his brother to the point that it was hard to even enjoy time with him. It was all struggle and work. But, at the end of that week he seemed calmer. Happier. So, we decided to keep him off for another week and the improved behavior continued. We have yet to put him back on the Genistein. We are too afraid of going back where we were before, to a time that was so difficult it was destroying our family. Can you imagine making this decision? Deciding between the one thing that could even possibly save your child and a life where Jarod and everyone is happier? It’s not easy to talk about “quality of life”, but in this case I understand it. My child is happier most days, gives me so many hugs and kisses and “I love you’s”. Except on occasions, he is not screaming and beating me and crying and throwing or breaking things. Pray for us here. We are considering putting him back on the Genistein in a lower dose for a short trial period again, but haven’t gone there yet.
The ugly. For as much as I would love to inspire you with my hopefulness, I can’t make any promises here. Our days are very hard. Even though Jarod’s behavior is improved, he is still a difficult child. He can be so loving, sweet and encouraging in some moments and so very violent and full of rage in others. He is hyperactive to the point that he is always getting into something, spilling, breaking, making constant messes. He literally exhausts us…physically and emotionally. The hardest part is that he has already begun his decline. His is forgetting. Can you imagine watching your child forget? He used to read simple books, now he knows a few sight words. He used to be able to spell words (actually take spelling tests), now it is a struggle to get him to write his name. He used to know body parts and the names of zoo animals. Most of these are forgotten. He mixes up words or sometimes just can’t get words out. His conversations only revolve around his favorite (and comfortable) topics. He gets tired out quickly when he runs around or plays soccer. It seems to have become more difficult for him to get up stairs. He still does it, but never runs up them like he used to. It’s so heartbreaking as a mother to see these things happen. I can’t even describe it. And it’s happening so slowly that it’s almost imperceptible.
And how about Caleb? I don’t want to leave him out, but most of our struggles are with Jarod. Caleb is in first grade now. He is doing well, but requiring more Resource help this year. Writing is a big struggle for him. Word-finding is a weakness. He is also hyperactive and finds it very hard to sit or work for very long. We are so proud of him, though. He is working so hard to have good behavior at school. He is doing so well, but without a treatment soon, it will continue to become increasingly difficult for him each year, and will probably require more and more help. He is such a joy, though, for the most part. He loves to sing and dance (except on stage) and that is what you will usually find him doing. He also has a funny little sense of humor that continues to surprise us sometimes.
Well, I’ve reached the end of my free time and this blog is probably far too long anyway. I hope you are all enjoying the holiday season and looking as forward as we are to celebrating the birth of our Savior! An early “Merry Christmas” to you all!
This post will have to be short. I know I haven’t blogged since February now. Our life seems to move in fast forward most days and free time to sit and write is hard to find (or when I find it I’m whipped from a day of chasing my kids around). I have a brief moment right now, so I’ll take advantage of it…
This has been a big week for me. It started with Mother’s Day on Sunday, followed by MPS Awareness Day on Tuesday, my birthday on Wednesday and tomorrow morning brings our second annual pancake breakfast fundraiser for the boys. A big week for reflection. A big week for gratitude.
Mother’s Day was a great day to remember that no matter what my circumstances, I have my boys with me right now. I don’t know what our future holds, but I have to appreciate the time I am given today. I, of all people, was chosen to mother my boys. Motherhood for me might not end up being what it is for most, but God gave me the opportunity to love, protect and care for my boys for whatever time we share here on Earth. We are blessed that the boys have a more attenuate form of their disease. That doesn’t mean it won’t do the same damage that it does to others…but it will move slower. So, I have to take advantage of the time I have TODAY.
MPS Awareness Day was a great reminder of the people God has surrounded us with and what a blessing they are. From friends changing facebook profile pictures or posting about the disease, to words of encouragement, to friends/family/school staff members wearing their Team Jarod/Team Caleb – we were overwhelmed with love and support. What a blessing you all are to us!!
And tomorrow brings the pancake breakfast. I’ll admit that functions like this are sometimes hard for me to get through. So much talking about the realities of what our lives hold right now. But again, I can’t deny the blessing that they are. So many people want to “help” or “do something” for us and what a great way to do so.
Step by step. One day at a time. That is how we approach life now. The future is a big, blank slate. I have seen where this disease will take us, but I also know that there is hope. There is research happening and a possible trial as soon as next year. Who knows how our road will look? I can’t continue to stress myself out with all of my fears of the future. I have to love my boys TODAY. I have to laugh with them TODAY. That’s all I have to handle right now. Just today.
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.
I'll keep this post short, but I thought I would take a minute to explain why we have decided to travel to take our boys to specialists in other states. Right after learning of Jarod's diagnosis in March (and learning that this disease has no treatment or cure), we learned that there is a doctor at the University of Minnesota (Dr. Chester Whitley) doing a Natural History Study on MPSIIIA (exactly what our boys have). I called the University in hopes of getting Jarod into the study, only to find out that they only had funding for 25 children...and Jarod was #26. The study is in preparation for a possible human trial (intrathecal enzyme replacement therapy) which may happen in the next couple years. There is currently a Phase I and II trial happening in the UK and Netherlands and if the results look promising, Dr. Whitley will do a Phase III trial here. We wanted to go ahead and get Jarod plugged in at the right place. When we go to Minneapolis we meet with a whole team of specialists (genetic, cardiology, neuropsychology) who see MPS children every week. That's something you just cannot find here. Being that Jarod didn't get into the study, however, means that we have to fund these trips ourselves. We will now be taking Caleb there for his baseline testing January 22-27, 2012.
Also, in researching the disease many months ago I came across some information about a doctor doing a study on an experimental drug at the Children's Memorial Hospital in Chicago. We took Jarod to see Dr. Barbara Burton back in late April and were able to get him in. However, this study has very limited funding so we also fund these trips ourselves (much cheaper than Minneapolis!), but although the first batch of the drug (genistein) was provided for us, Dr. Burton has since run out of funding and we must now buy it ourselves ($1,000 per child every six months - and that's getting it at cost). We have been so blessed by all of the fundraisers and donations which make these trips a reality for us without all of the stress of figuring out where the money would come from otherwise. Thank you so much for that!
I'm going to try for a few moments to put away all of the sadness and devastation we have felt since our boys were diagnosed with Sanfilippo Syndrome and focus on some of the blessings we have received over the last six months.
There was a night back in April, not long after Jarod was diagnosed, that I was physically crying myself to sleep and mentally crying out to God "Where are You?" I have had a close relationship with my Savior since I was a child, but in light of all that was happening I just didn't feel His presence. He seemed nowhere to be found. As I was crying I had a sudden vision of a crowd of people, some faces I knew and others I did not. And with the vision I heard the words "My hands and feet." At that moment I realized that I was looking for God in the wrong places. I was hoping that He would drastically change our situation...a false positive test, a miraculous cure, something huge because He has the power to do such things. But, just because He can do miraculous things doesn't mean He will. Maybe instead He is choosing to with us every step of the way on this long journey we have ahead. And He has blessed us with the people he has placed around us.
So we owe a great amount of gratitude to so many people who have come around us in the last few months to show love and support - to be God's hands and feet in our life. In the last six months we have had family, friends, church families and friends of family host a candle party, a pancake breakfast, a night at Strikers, a pizza night, a golf outing, a jewelry party (and this week brings a "hoedown" and a soccer tournament) to raise funds to help us with new medical costs. We've had people send cards with words of encouragement, donations and gift cards...some even anonymously. While were were in Minneapolis in June getting all of Jarod's testing done we had family back home taking care of Caleb...and we had friends from church that secretly came to our house and took care of some landscaping and deck and fence rebuilding that we had planned to do when we returned home. What a surprise that was after a challenging week!
If you were any of these people - THANK YOU! If you have purchased a t-shirt - THANK YOU! If you have attended a fundraiser - THANK YOU! If you have offered up your prayers for our family - THANK YOU!! I'm sure that I have forgotten someone and if I have, I apologize. Thank you to everyone who has shown us their love. :)
I get this question a lot now and I'm never really sure how to answer it. I usually say "fine" or "they are doing well", but that's not really the truth, is it? However, I certainly don't want to make someone endure the long, hard truth of the reality of our life now. I don't want to get into the in's and out's of the disease, the damage it has done so far or the damage it will do in the future. So here is the real answer to "how are the boys?" if you care to read on:
My boys "look" healthy. They talk and run and play and act like boys. They played soccer this fall and love to ride their bikes, but there is so much going on in their little bodies on a cellular level - and damage is being done little by little, day by day.
What has Sanfilippo done to Jarod already?
- Many ear infections as a baby (had tubes placed)Asthma (starting at age 1 1/2)
- Moderate high-frequency hearing loss (he wears aids)
- Speech/Language delays (recent testing is already showing the start of decline here)
- Cognitive Impairment (his IQ used to be 68 or so, now we are looking at high 40's)
- Growth retardation (He has fallen steadily from 50th percentile for height to 25th to 10th to 5th and now below 5th over the last five years)
- Liver and spleen enlargement
- Thickening in one wall of his heart
- Behavioral issues (aggressiveness, tantrums, HYPERactivity)
- Joint stiffness and pain (we're already noticing that running seems to be more labored for him)
- Obsessive tendancies (he has a thing for books right now...he's in and out of the library at school many times during the day and has bags and bags of books that he puts together around the house)
What has Sanfilippo done to Caleb so far?
- Moderate high-frequency hearing loss (he was fitted with aids this summer)
- Speech delays (much less severe than Jarod at the same age, but there is already a gap between his expressive and receptive language) He is now starting speech/language therapy.
- Some hyperactivity (although, again, not as severe as Jarod - now or or at the same age)
Jarod keeps us busy. Once he's up in the morning he is non-stop until he goes to bed. He is into everything. Some days I think his little brain just needs to live in chaos. He dumps toys out everywhere, throws games and dvd's all around like frisbees, writes on/in things he shouldn't, tears pages out of books, makes a mess with food and drinks, etc. It's a full-time job cleaning up in his wake as he goes through his day. Caleb doesn't share these tendencies, thankfully. He's my kid that loves to play the Wii, read books, do puzzles, use his imagination with his Playmobil toys, create things with Play-Doh, etc. He just acts like a bouncy, smart five-year-old.
So...that is "how the boys are". :) Even with the delays and health issues that Jarod has experienced already, we are constantly reminded that, in the context of Sanfilippo, our boys are doing quite well at the present. They talk to me every day. They laugh every day. I get hugs and kisses every day. For that I will remain thankful. And I will continue to just take each day as it comes.
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.