MPSIIFund News

We have finished our final appointments down here and are exhausted. Trey was up last night until 12:30 am and we woke him up at 4:30 am so that he would fall asleep during his EEG this morning. He did, which was great, but it made for a rough day for all of us.
At 2:30 we met with Dr. Szabolcs, the doctor who will do Trey’s transplant if that’s the route we choose to take, and Dr. Escolar. It was another 2 1/2 hour appointment, but here are the highlights: Dr. Escolar charted Trey’s development tests from yesterday and his tests done at home, and until 3 weeks ago, his development was a little below the 50th percentile, but on an upwards swing. She thinks that his sudden drop in development is due to his ear tubes falling out in the past 3-6 weeks. As a result of this (the fact that he’s doing so well and the observation that his sudden drop in development may be due to hearing loss), Dr. Szabolcs thinks we should not proceed with transplant right now, but come back in 3 monthes, after new tubes have been put in, to do another development test and see where his development is at. If his development spikes back up and continues to follow within the normal range, they will likely not suggest transplant. If his development does not go back up, they may want to transplant. We will plan to come back to Duke in 3 monthes.
Another major discussion we had was regarding transplant at BCCH. Dr. Szabolcs did say that it is not a problem to give the transplant doctor at BCCH the protocol for CBT, but he does feel that because of his experience with Hunter Syndrome and how these children respond to certain medicines and the specifics of it all, that it might be safer for Trey to get his CBT done at Duke. So, if we do decide to proceed with transplant, it will be done at Duke.
We also saw Simon and Marie tonight and will be spending the day with them tomorrow. Finally time to play a bit.

There’s not a lot to update today. This morning we saw Dr. Escolar. We were there for 4 hours. Her team did another standardized test, one which she likes best and Trey has not had done yet (although I think now we’ve done them all!!), Trey’s ears were checked, as well as his eyes, and his weight, head circumference and height were measured for the third time down here. The interesting part of speaking with Dr. Escolar was hearing about her Natural History study. She has followed 30 kids over the course of approximately 4 years. She has noticed that at around age 2 1/2, kids with Hunter Syndrome seem to follow one of two developmental curves. Those children who have hearing impairment, but no CNS (Central Nervous System) involvement have followed along one curve, and those children who have hearing loss with CNS involvement have followed along the other. She said that all kids so far have fit into one of those curves and they can be placed on that curve between the age of 2 1/2 & 3. She is going to review Trey’s tests from today, along with the results of Trey’s tests up-to-date, and then let us know at our meeting with Dr. Szabolcs tomorrow, where Trey fits on the curve. Since Trey is supposed to be totally sleep deprived for tomorrow morning’s test (EEG), we are probably going to go check out a Hurricanes game tonight, and stay up as late as we can.

Here we are in North Carolina. We are exhausted, but well. Today Trey had vitals done and blood taken at Duke Children’s hospital. By far the most exciting part of that visit was RY GOT TO MEET COACH K (ask someone who knows college basketball and they’ll tell you all about him) !!!!!!!!!! I don’t know what he was there for, but there were cameras and lots of people. Ry was pretty thrilled.
After that we went to UNC Children’s Hospital and got to meet the famous Dr. Muenzer (at least famous in the MPS II world). He’s a wonderful man who talked with us for over 2 1/2 hours. We learned quite a bit, but are waiting until we meet Dr. Escolar tomorrow and Dr. Szabolcs on Friday to make any decisions.
To summarize a 2 1/2 hour appointment, Dr. Muenzer said that there is no definite way of diagnosing Trey. The earlier the diagnosis and the sooner the symptoms present, the better the chances are of it being severe (kids who have severe involvement have brain involvement as well). Also, in his experience, based on the number of patients he has seen (over 125 people with MPS II in the past 2 years), about 2/3 of those kids fit into the severe category. However, some kids with with an attenuated (mild) version of the disease, do get diagnosed early on, and some of those kids also have developmental delays due to hearing loss, not brain involvement. If, by the age of 5 or 6, children with Hunter Syndrome are developmentally okay and do not have brain involvement, they will never have brain involvement. Basically, the chance of Trey having a severe form of Hunter Syndrome is better than his chance of having an attenuated form, but this is based on odds, not Trey. Trey’s tests do not show anything significant other than the fact that he has Hunter Syndrome, not even the MRI of his brain. Dr. Muenzer did say that Dr. Escolar, who we see tomorrow morning, has been working on trying to diagnose kids with MPS II earlier, and is making progress.

Last night when I was thinking about all the people who have gotten us to where we are today with regards to our diagnosis, I wanted to make sure that I thank them as well.
The Harkins’ are one of those families. Kirsten is the Executive Director of the Canadian MPS Society. Her husband is Todd and her 3 kids are Jansen, Jonas, and Nicklas (he has MPS I). They were the first family we met who had gone through a diagnosis of MPS. I called her days after we began testing Trey for MPS, and 2 days later she was over at our house with information, pamphlets and support. When ERT became a possibility, she walked us through the steps of getting it for Trey in Canada, and when it became approved by the FDA, she made phone calls making sure that people knew we wanted this for Trey now. When we began to find out about CBT’s, she sent out emails to doctors and international MPS Societies asking them about their experiences with them. And not only that, their family has become friends of ours. They do an awesome fundraiser called the MPS Cup, www.mpscup.ca.
I’ve also got to mention Dr. Stockler. She is the best doctor we could imagine. She is the doctor who diagnosed Trey. You may have read in “Trey’s story” about how difficult learning about Trey having MPS was for us. Some doctors asked us “Has Trey always looked like this?” Others treated us like we were awful parents for not knowing that Trey had MPS. “Isn’t it obvious?” And still others told us that he is severe and will die by the time he’s 10, like it was something completely insignificant: “Your son is going to die before his teens…are you thirsty? Would yo like something to drink?” Not Dr. Stockler. She had tact and compassion and understanding. She made it easier on us. She has also done an incredible amount for our family and Trey. I won’t mention it all because there is too much to thank her for, but especially with regards to getting Trey ERT and making this CBT a possibility, she has worked so hard for us- how many doctors email their patients on weekends and their time off? Not many in my experience. She has been amazing. So far, these have been families and people we have met through MPS.
I cannot say thank you without mentioning Tovah, Quincy, and Asher Paglaro. Tovah is the mama who set this entire site up for us. Right after I sent out an email asking our friends and family for help with fundraising, raising awareness, or getting a website set up, she emailed me back offering to help with it all. She has spent countless hours learning about websites and in the new year she is also going to spearhead a new fundraiser for us. All of this while being a mama of a little one and working full time.
And I save my family for last. I cannot thank them enough. Ever since we received our diagnosis, our family has rallied together and given us amazing support. Each day we have at least one family member over helping out, sometimes as many as four (especially recently while getting ready for this trip). Whether it’s playing with the kids while I have a phone meeting/interview, babysitting while I take a nap, or learning about various aspects and policies of government health, Canadian law, pharmaceutical companies, or other MPS related activism, they have been here for us. I am sane today because of them. I love you!! We have many other friends who have kept us going and given us support through this time as well, and we want to say thanks. Just coming over, playing, hanging out, and eating with us has normalized us through this time, and all of your emails keep us going. Knowing that we have all your support truly makes it easier. Thanks for being there for us. The past few monthes have been a huge learning experience for us in all aspects of life and we are so grateful for your friendship. Lots of love, Deb, Ry, Trey, and Avery

Assistant Deputy Minister of Health, Bob Nakagawa, did not give us an answer today regarding the funding of Trey’s ERT through the BC government. We are very disappointed. He had a meeting with Deputy Minister of Health, Gordon Macatee, last Thursday, who asked that Bob give him more information before he makes a decision. From my understanding of our conversation, it sounds like because so many Enzyme Replacement Therapies are becoming available for enzyme deficiency diseases like MPS, they want to be very careful about the decision they make regarding Trey because they don’t want to set any precedents they can’t follow. The issue, Bob said, is financial. He said that they want to find a solution that is national, not just provincial or for Trey. His answer for why this had not been done already, considering all other developed countries in the world have a solution, was: “It’s complicated.” He has agreed to let me know by tomorrow afternoon when his next meeting with Gordon Macatee is.

I don’t have too much to update, but I’m in a bit of a writing mood, so I thought I’d tell you about the little that is going on. Dr. Stockler emailed today (yes, on a Sunday!!) and she doesn’t seem concerned about MSP not paying for CBT’s. She said that BCCH is a research hospital, so CBT’s could quite possibly be paid for through research grants or something like that. I am going to call the transplant doctor at Children’s tomorrow to see if I can find out a bit more.
I also want to give a shout out to 3 awesome families we have met in the MPS world. One family, the Buck-McFadyen’s, have a son, Isaac, who is the same age as Trey, and who has MPS VI. They also have a son the same age as Avery. They live in Ontario and we will be visiting them on our way home from North Carolina. If you want to check out their website, it’s: www.theisaacfoundation.com.
Another family is Amy, Matt, Aiden, and Owen. Owen is almost 2 and was recently diagnosed with MPS II. Amy is the mama who told me about CBT’s in the first place. Unfortunately, Amy and Owen left their CBT assessment at Duke yesterday, as it wold have been nice to be there at the same time as them. Owen’s website is: www.savesweetpea.com.
And last, but definately not least, are the Ibell’s: Marie, Simon, and Olivia. Simon is 29 and has MPSII. I don’t think we’d be where we are today if it wasn’t for them. They were the first MPSII family we met and they are unbelievable. I have trouble even describing what they’ve done for us. The first time our family talked to them was right after Trey’s diagnosis. We were lost and our world had collapsed. Marie and Simon got us back on our feet. They taught us how to hope, how to believe, and how to fight. Even now, when I’m down, I can call Marie and Simon and they’ll pick me back up. We’re actually going down to North Carolina with them, and can’t wait. For all of the above reasons, but also because Simon is as much of a fan of basketball as Ryan, and since UNC is Michael Jordan’s alma matter and basket ball is so big down there… Simon’s website is: www.bike4mps.org.
Since not many families go through a diagnosis like MPS, it is amazing what that one common bond can do to bring families together. We have met so many wonderful families whose children have been diagnosed with MPS (so many that I have not mentioned here). They just know what you’re feeling and what it’s like. Although everyone has different ways of learning to be with this kind of news, just knowing what it’s like to hear for the first time that your kid has something seriously wrong, or just knowing that this news doesn’t sink in and get accepted in a couple of monthes, that we still spend time crying and feeling like we don’t know what to do or how…they just get it.
But on the other hand, I think our families click because I think that even if our kids didn’t have MPS, we wold have been friends. Ellen and Andy are these comfortable, warm, and loving people who have dedicated their lives to their children and finding a cure for MPS. Amy is an incredibly strong, crunchy mama who is as “thoughtful” as me about what she feeds her kids, knows that Owen is destined for greatness, and and will do whatever it takes to help Owen. Amy found me on the Mothering forum. ‘Nuf said. Simon is caring and compassionate and just has this huge heart and Marie is a lawyer who doesn’t take any s@#t. They’re these amazing families who have gotten stronger as a result of this ‘diagnosis.’ And I am so glad I have them to lean on and learn from.

This whole world of medical services, funding, and the Canadian Health system in general is so frustrating. It is like no one cares that Trey is this beautiful little boy who needs treatment. If what he has and what he needs done doesn’t fit into “the rules” then “they” can’t help us. We’re having trouble getting ERT because, according to our government, there’s not enough evidence it works, even though kids in other countries are getting it no problem and trials have proven it effective. Ryan’s extended health plan won’t cover ERT or CBT’s because Ryan doesn’t have “that” policy, and MSP doesn’t cover any “experimental” treatments…doors just seem to be getting shut in our faces everywhere we turn. Yet we know of many other families who have had their ERT or CBT’s paid for. We know there’s a flaw in our health care system when no one will pay for life saving treatment for our son. We’re not giving up, as we know these treatments have and are being paid for with other families, but I just wish it just wasn’t such a hard and frustrating road. Learning to work with a diagnosis like Hunter Syndrome is hard enough…now we have to fight our system too. Although I must say, we are getting used to this fight. Just one of those days.

MSP has told us that they do not pay for any Stem Cell Transplants (Cord Blood Transplants fit into that category) because they are still experimental. Now we’re onto the search of finding out who pays for these treatments since we know they have been done in BC.

So we have a few updates. Our appointments at Duke and UNC are finally booked, thanks to our awesome doctor up here, Dr. Stockler, and the great staff down at Duke and UNC. Just figuring out what tests Duke wants to do/re-do, after reviewing the tests Trey has already had done, has been crazy. But it has worked out well for us because when the usual testing for CBT assessment takes 2 weeks, they’ve fit it into 3 days…and fit it into the schedule we had before we were even considering a CBT. Anyways, Trey has bloodwork and an appointment with Dr. Muenzer on Nov. 1, an appointment with Dr. Escolar on Nov. 2, and an EEG and appointment with Dr. Szabolcs on Nov. 3. Even better, my mom is coming down with us to help with the little ones. On a bit of a downer note, I got a call from Bob Nakagawa’s office. Apparently he is no longer able to talk with me tomorrow, so we have rescheduled until Monday, October 30. It’s not a huge deal to us because as long as we have an answer from him before we go to NC, we’re happy. We can’t make any decisions or do anything on the ERT front until we get back from NC anyways.

We found out today that there is a possibility Trey could have a CBT done here at BC Children’s Hospital (BCCH), if that is the route we choose to take. It is all still just talk, but if it is safe enough and everyone is willing to work together to do this for Trey up here, it could save us a lot of stress. The transplant would be paid for, we have the support of being at home, Ryan can work if he has to, we would be able to come home a lot sooner…the list goes on. It’s not for sure and we won’t know anything until we go to Duke and also talk with the transplant doctor up here, but it’s got us interested. Regarding going to North Carolina, we will hopefully have a definite schedule for the CBT assessment by tomorrow. We are really looking forward to going.