MPSIIFund News

Those of you who know what’s going on will know why our trip has been re-scheduled. It’s a long story and one that I don’t feel like getting into at this point. So, our trip to UNC next week has been cancelled and we will now be flying to North Carolina for the week of June 27-July 1. Trey’s big test, his LP under anesthesia, will be on July 1, Canada Day. This test will determine, finally, if Trey qualifies for the IT trial. There is so much riding on this trip. This drug is doing AMAZING things for the boys on the drug so far. At this point, it is the ONLY treatment for brain disease in Hunter’s. I posted info about the procedures done during the trip, what happens if Trey qualifies & randomizes to drug or no drug etc., in an earlier blog, so you can get details here: http://treypurcellcom.nationprotect.net/blog/2011/03/28/heading-back-to-north-carolina/. If Trey does qualify & randomize to drug, he will be the third child in the second cohort and will receive the 30mg dose (the first cohort of 5 boys received a 10mg dose monthly). His port implant would be in the 2nd-3rd week of August & his first infusion would be two weeks later. If all this happens, everything will be gravy.
Emotional blogs I will post when they are contained enough to write about and not so huge that they might spill over. For now I go to yoga. And breathe. It is International MPS Awareness Day on May 15 and many of my MPS friends have been posting MPS facts daily on Facebook. These postings, both emotional and factual, have led me to realize how united and similar we are (and different from others) in our fears and struggles and good and bad days. To these friends, you know who you are, I highly recommend this song: http://www.youtube.com/watch?v=q_9sd6kGRuk. Let’s work towards ahimsa, which means non-injury, for ourselves. I read a study that mother’s of ‘special needs’ children have significantly increased rates of heart disease and cancer compared to the rest of the population. Not surprising, considering the significantly increased stress levels. Let’s put an end to that.

Updates are coming so quick around here, there’s not time to post about all the exciting stuff going on! Tickets for our Gala are officially for sale. We have so many awesome people on board to speak, perform, and attend, I am already so excited for this event. Click on the link for ticket sales: http://onceuponacure.com/gala/tickets/
I’ve also confirmed our speakers, Simon Ibell & Dr. Paul Moxham, Trey’s ENT. Simon is hope and inspiration for me, I am so so excited he’ll be coming to speak. I wrote a blog about him on our Gala website: http://onceuponacure.com/blog/simon-ibell-more-inspiration/. Dr Moxham has been our advocate from the beginning. He’s funny and personable and smart and respectful and listens to parents (which is why our relationship works ;-))! He is a wonderful wonderful doctor who is giving up a night with his family to speak at our event. Again, thrilled. 🙂
And last but not least, Will Blunderfield will be singing at our event. I wrote a blog about him too: http://onceuponacure.com/blog/will-blunderfield-inspiration/. This is him, above, as well.

Just like Alice plunged into Wonderland, all families diagnosed with MPS II are plunged into a world previously unknown to them that they must learn to navigate. Just like Alice,  this world is beautiful and nightmarish at the same time. The beauty and joy of life is never more clear than when the life of one’s child is threatened.
Join us for a truly unique, wonderful, and maybe even unpredictable, Gala where we will journey into Wonderland for just one evening. Share in celebrating the joy of life and raising critically needed funds for research.
Saturday September 24, 2011
Cocktail reception to begin at six o’clock with dinner and evening festivities to follow.
The Sutton Place Hotel
845 Burrard St Vancouver, BC
It will be an exciting and glamorous evening filled with twists and turns as we journey down the rabbit hole and experience a world of magical proportions, with 95% of all proceeds going straight towards MPS II research. This memorable Gala event will include cocktails, dinner and auction, musical performances, acrobats, jugglers, special guest speakers and an incredible chocoholic dessert buffet.
The guest list will include 200+ local and international business entrepreneurs, philanthropists, community leaders and supporters from various walks of life. We are also pleased to have members of the film and TV industry committed to attending and being a part of our fundraising effort.
Check out our new website: www.onceuponacure.com

After a long wait, we have been asked to come back for final qualifying tests for the IT trial at UNC. We will be going back for the week of May 16-20. Trey will undergo a whack of medical tests, including: EKG, ECHO, physical & neurological exams, cognitive and behavioural testing, safety labs, hearing test, bronchoscopy, brain & spine MRI’s, ABR, and lumbar puncture.
The big one is the lumbar puncture (LP). If Trey’s pressure is over 30cm H2O, he will be excluded from the trial. If it is under 30, he will qualify. After that, the big next step is randomization; whether Trey gets randomized to drug or no drug. If he gets drug, he would be the next child to begin treatment. If he gets no drug, we go home and come back 6 monthes later to re-do the LP.
When Trey could potentially begin treatment depends on many many factors. I’ve tried to calculate when he might potentially begin treatment, but it is impossible. It depends on the children who go before Trey, of which there are two. It depends on scheduling of their respective trial sites, if their LP’s qualify them and if they randomize to drug or no drug.
All we know right now is that Trey is in line and that we are going back for that week in May. Everything else beyond that is up in the air. As I know more, I will update.

We have funded a $50,000 research grant to Dr. Emyr Lloyd-Evans at the University of Cardiff. Below is a summary of the research he is conducting:
“We are aiming to develop a cellular model of Hunter Syndrome brain (MPSII). To do this we will take stem cells from the MPSII mouse model and using careful conditions will change these cells into neurons. This cellular model will help in studying the brain pathology of MPSII but can also be used to test the effects of therapy on the MPSII brain. We will study both these aspects. We are particularly interested in looking at the effects of a novel chemical compound we have isolated from Malaysian plants. In some preliminary experiments, we found that one of these compounds is capable of reducing storage in MPSII human skin cells but not in cells from other lysosomal diseases. We aim to fully study the effects of this compound on MPSII neuronal stem cells. Finally we are interested in using neuronal stem cells to study the order in which disease events happen in MPSII. We have done this before in Niemann-Pick C1 disease5, where we identified defects in lysosomal calcium homeostasis as an early disease event and a therapeutic intervention point that enhances NPC1 mouse function. Such a study in MPSII will determine the mechanisms leading to cellular pathogenesis and identify novel therapeutic intervention points. This proposal is in line with the Canadian MPS Society’s remit and this RFA as the main aims are to develop cellular tools for the MPS community, study novel therapies for MPSII and determine the cellular pathogenic events that occur in the MPSII brain.”
At this point in time, the MPS II brain is a mystery. What Dr. Lloyd-Evans is aiming to do, is simplify the MPS II brain to a cellular level, to hopefully gain more insight into this complex system. He is creating an MPS II brain in a cell. Once they have accomplished this, and it is very likely they will, as this has already been developed for other diseases, they will be able to test thousands of small molecules on these cells, to find out if any are effective at reducing GAGs and treating the MPS II brain. For example, although we use Elaprase to treat our kids, we have no idea what it would actually do to the MPS II brain cell.
It is very very exciting stuff! Thank you to everyone who donated and volunteered and made this research possible!!!!!!!!!!!!!!!!! I will post updates as I have them.

Last Monday, January 31 was the deadline for applications for our $50,000 MPS II Research grant. Since the beginning of our fund in 2007, we’ve never received more than 2 applications during our request for applications process. This past Monday, we received 5 applications!! We/Canada/the Canadian MPS Society is finally developing a reputation for funding Hunter Syndrome research. Woohoo!!!!!!!!!! Before Ryan and I began the MPS II research fund within the Canadian MPS Society, NO ONE in Canada fundraised for or funded MPS II research, so it took a few years for researchers to find out about us. But they did, and here we are. It is so so exciting.
The applications have been sent to the MPS Society’s Medical Advisory Board for review and rating. They have until the end of the month to complete this process, and then the ranked applications will be sent to Ryan and myself and the Board of Directors of the Society for review and to make a final decision. The final funding decision deadline is March 31.

Or at least around North America. The below link leads to an article about a family who has become very very close to me. Jen, Tripp, Aidan and Avery Carter. I’ve commented to and about Jen and Aidan many times in my blog. Jen and I connected first because her son was also diagnosed with Hunter Syndrome. We’ve stayed connected, I think, because we have similar values in how we think about and fight for this disease. In this article, by raising awareness and funds for research, fighting is what she is doing. For Aidan’s life. Way to go Jen!
http://www.seacoastonline.com/articles/20110118-NEWS-101180353

Trey’s IQ qualified him to move into further qualifying assessments for the IT trial, that puts a concentrated form of the enzyme his body is missing, directly into the brain.
Details: To qualify completely for the trial, Trey needs a lumbar puncture (LP) to test his intracranial pressure to determine if he has hydrocephalus or not. If his pressure is above 30 mm of water/Hg (mercury), he will be excluded. If his pressure is below, within a day of his LP results, Trey will be randomized to drug or no drug. If he randomizes to drug, within two monthes, Trey will be placed with an intrathecal port. Approximately two weeks later he will receive his first infusion (IT infusions are monthly, unlike his weekly Elaprase infusions). For nine monthes, we will travel to UNC for 10 days a month to participate in the trial. After that time, Trey can begin IT infusions at BC Children’s hospital.
If he randomizes to no drug, he goes home and comes back 6 monthes later to re-do the LP. If his pressure is okay, he gets his port placed and begins treatment. If his pressure is not, he is excluded.
More details: There is a new site for the trial, in the UK, so UNC and the UK will be splitting slots. The UK will get the next kid, then UNC, then UK, alternating between sites.  There are a lot of specifics that need to be worked out between the two sites, so further testing (ie. LP and other tests under General anasthesia) for Trey to enrol him in the trial, at this point, is up in the air. In addition, I’m not sure how many kids are in front of Trey to get drug.
So, there are many many factors that will influence when and if Trey gets this lifesaving drug. The first cohort of the trial, who received 10mg of drug, is full. The last boy in this cohort needs to receive 3 infusions (his first infusion was January 3), before anything proceeds. At the end of March there will be a safety assessment meeting to determine if the drug so far is safe. Assuming they recommend positively, the first child in the second cohort (30mg dose) will be implanted with the port and begin treatments 2 weeks later.
This child needs to receive 2 infusions of the new 30mg dose, then there will be another safety assessment, and then the second child in the cohort can be placed with a device. And so forth.
If Trey qualifies for his LP, he will be part of the second cohort (30mg). However, too many factors will determine when that begins. Scheduling with the hospital, safety assessment meetings, whether the kids in front of him qualify and randomize to drug or no drug, and then whether or not Trey randomizes to drug or no drug. So that’s the practical info.
This drug also looks like it’s working. Dr. Muenzer said this trial is solely to determine if the drug is safe. Extras are icing on the cake. Meningitis was the biggest fear going into this trial. However, so far all the kids have remained healthy, and there is more exciting info as well. One child’s IQ went up 16 points after 6 monthes drug. One potty trained after his first infusion. One child’s hearing was restored. The kids are having different responses to the drug (probably because all the kids are different and are affected differently by the disease and in different stages of the disease and are different ages… who knows why they’re responding differently), so not all their IQ’s have gone up the same amount and not all have stopped wearing hearing aids etc., but I’m holding onto cautious (very excited cautious) optimism. Dr. Muenzer even said he’s got more info he’s excited about but can’t yet share.
Emotions: Lots.

No matter now hard I try to relax, and no matter how calm I am or think I am going into one of these trips, when I am here, I am in this constant state of anxiety. I literally have adrenaline running through my body the majority of day and night while I’m here.
Yesterday I found out a great deal of secondhand information about the trial. After that and for the rest of the day (and much of the night) I spent my time writing down questions and thinking. Do I have more questions, how do I ask this question or that question? Today I woke up at 4am Vancouver time and started thinking again.
Finally, at 11am, we met with Dr. Muenzer. He told me about what’s happened with the trial in the past monthes and what the next monthes will look like. I really like Dr. Muenzer and his team and I’m glad they’re who are in charge of this trial, but it’s still hard. I have little to no control over any of it.
Now I get to try to sleep tonight thinking about the neurocognitive tests tomorrow. If he qualifies, if he doesn’t. Life, death. If he does, will he get in for the next qualifying test before he develops hydrocephalus? If he does, will he get drug before his IQ drops to a point of no return? At least I can face these terrifying questions on the surface. Because, as scary as they are, they’re hopeful. The alternative, not getting into the trial, I can’t go there.
When I’m not in North Carolina I can get busy with other life things. Like homeschooling. Like fundraising. Like parenting. Like taking care of myself. Like hugging and reading and snuggling. But here, here is about life or death. Here is about saving my child’s life. It’s about fighting. It’s about fear. And it’s on me. Ry’s job is about working to support our family. And here, in North Carolina, it’s about supporting me. And he does that well. But me, my job is to ask the right questions, to say the right things, to know when to make the phone call, to have the right information, to talk to the right people. So I can save Trey’s life. So I’ve come to accept that sleep, in North Carolina, is not much of a reality.

My family and friends who are close enough to know the day to day goings on in my life often hassle me for taking on too much. Today made me think about why I do that.
Today, Ry, Trey and I met up with two families who are down here for their IT infusion. Case is a 3 YO who just got his first infusion last Tuesday. His mom, Melissa, and I have been in touch over email and phone, but never met. Elijah is 6 YO and getting his 8th infusion tomorrow. I met him, his mom Brooke and his Papa last time we were here in August.
For those of you who are parents of ‘typical’ kids, you know when you meet someone at the park or talk to a friend whose child is also going through the same thing as your child? Whether it’s teething, hitting, ‘potty training’ or any of the other million stages our kids go though? You can compare notes, get ideas, vent…
With Trey, I have no one to do that with. Hunter Syndrome is rare. There is no one who lives near us with Hunter Syndrome. As a result, talking with Melissa and Brooke is like… well, an emotional release. Like a pressure cooker when you finally take the lid off. We were able to compare notes, ask questions, exchange ideas. Oh, Case does that too? Does Elijah do this? Etc Etc Etc. I also don’t have to explain Trey. My life at home is about explaining hearing aids, VAD’s, infusions, speech delay, his quirks with conversations, going to the bathroom, routines and on and on. With Melissa and Brooke, I don’t have to explain anything. I can relax. We talked for 3 hours while Ryan ran around and played with the boys. It was sooooooooooo cathartic and wonderful.
In addition, their boys have had IT drug. What we’re here to be assessed for. I was able to hear specifics about the infusions, what it’s like, if they notice differences in their children. I also got more information about where the trial is at, how it’s progressing… information about how the port is working, hiccups that have occurred, and timeline. With a progressive disease, time is of the essence. While Melissa and Brooke were sharing their wealth of trial knowledge with me, what kept running through my mind is that this whole trial, especially the timing, is out of my control and it’s scary. Really scary. Life or death scary. The timeline has always been incredibly important in my mind, but now that we’re this close, it’s like we’re getting closer to game time. And the lid has been put back on the pressure cooker.
So that’s why I get busy, why I distract myself. So I can stop thinking about scary things for a few moments. It’s how I cope. I do yoga and I’ve started learning about meditation, chanting and mantras, so I can face my life head on, but sometimes I distract myself. It may look like I’m taking on too much, but sometimes that’s what I need to get through. It helps me to stop thinking about what is coming that is completely out of my control. Especially when it comes to this trial.
Brooke and Melissa, it was AWESOME to see you today. Thank you for sharing yourselves and your experience and your wisdom. I look forward to seeing you all again!!