MPSIIFund News

Elaprase has been approved by Health Canada!! This is a huge step because it means that Elaprase is now accessible to all people in Canada affected by Hunter Syndrome. It was approved on June 14. The catch is that although it means that the drug is approved for use in Canada, it is up to the individual provinces to approve funding. This, as has been demonstrated with many rare disease drugs, is where the struggle (and frustration and despair and and and) comes in and this is why Canada is so badly in need of an Orphan Drug Act. As soon as I have a final copy of the Press Release, I will post it up here. And speaking of Elaprase, on Monday, Trey completed his 20th infusion!! What an absolutely great feeling.
We have also received a few more results from Trey’s recent series of tests. His abdominal ultrasound (which was done in May) showed that his spleen (which was enlarged before he began ERT) is now within the limits of what is defined as normal for his age. His liver, which was 1.7 times the “normal” size before ERT, was described as bulky, which from my understanding means that it is still a bit big, but much smaller than it was, and almost within normal range. Trey’s doctors expect that it will continue to shrink. They also said that ultrasound is just a guide and not as accurate as an abdominal MRI, which will be done in December.
Trey’s cardiology results. A bit confusing. His electrocardiogram was normal. His echocardiogram report showed that he has trace Mitral Valve Regurgitation and as a result, his left ventricle is a bit larger than normal. I was told one year ago that Trey had Mild Mitral Valve Regurgitation (so trace MR is an improvement), however, the report from last year does not say anything about MR (I would have had no idea what MR was unless someone told me my kid has it, so I know the words were mentioned to me). The cardiologist who works with kids with MPS at BC Children’s is on holidays, so I’ll find out more in a few weeks. With what we are working with so far though, it seems as though Trey’s heart has not gotten any worse, and with a progressive disease, I am pretty thrilled with these results.

On a positive note, last night was the MPS Cup. It was so much fun. In the afternoon we attended the Fantasy hockey game where friends and family came to watch professional hockey players like Gilbert Brule play with dads and men who aren’t professional (the best way to put it I think…it sure shows you how skilled those NHL’ers are!!) and in the evening Ry and I attended the Gala dinner with my mom, dad, sister, and family friends Grizz, Brooke, Jacquie and Neil. What a fun time. It is the one time a year I leave the kids for an extended period and go out for dinner in a social setting with Ryan. We got dressed up and headed out. Same as last year, my favorite part was the silent auction and chocoholic dessert. There were over 50 items in the silent auction and it went on all night. We bid on items, ate dinner and then listened to Kirsten Harkins and Lorne Clarke do some speeches. I did a speech on our past year afterwards (see video, below). Apparently I had a few people crying and my family was bawling. Hopefully that helped donations!! Following was dessert, a 50/50 draw, live auction, and dancing. It was really a lot of fun. We also sat at the Shire table with Lori Ann Bradley and I was able to have a great, UNINTERRUPTED (that never happens at home) conversation with her. Thank you to everyone who supported it and to everyone who supports the Society.
[flv width=”320″ height=”240″]http://treypurcellcom.nationprotect.net/video/mpsBanquetSpeechJune2007.flv[/flv]

Last night I received an email that my good friend, Amy Donaldson, had passed away that morning. She died after a hard battle with cancer. I was first introduced to Amy when she sent me a private message on the Mothering forum. When Trey going through the diagnosis process, I posted on the Mothering forum, asking about Hunter Syndrome. Last August, when Amy’s son Owen began testing for MPS, she searched the same forum, looking for information.
We became instant friends, and when it was confirmed that Owen had Hunter Syndrome as well, we became even closer. Not only were our kids similar ages and we were going through the diagnosis and grieving period at around the same time, but we had similar values and beliefs and ideas about parenting and life.
We exchanged ideas on nutrition and foods and supplements, we talked about fundraising (we wanted to walk to meet each other to raise money for MPS…she lives in Vermont), we talked about home and unschooling, we talked about transplant because both of us were considering a Cord Blood Transplant at Duke. We had Duke assessments around the same time. We walked through the diagnosis and transplant assessment process together and became close. She’s a liberal minded mom like me and she had an amazing spirit and fight in her that I knew would get Owen so far in the world. She helped me cope because she was such a positive person and had such a positive spirit. And long before their family found out that Owen’s mutation is mild, she believed that Owen was going to beat the odds and do amazing things. When I was doubtful, she reminded me to believe.
There are so many things that are hard about losing Amy. She was an intelligent woman who did so much research on behalf of Owen and MPS. I will miss her knowledge and wisdom, her powerful presence and positive spirit. She was truly a wonderful and kind person. I will miss our connection. I never met her, but she felt like a sister. She was one of those people who I felt an instant connection with and who was a kindrid spirit.
Even more though, I feel sadness for Amy’s family. Sadness that Owen and Aiden (Aiden is Amy’s oldest son) will never experience what a strong mama they had. That they will never experience how hard she fought for Owen and MPS. Sadness that they will never experience her devotion and extreme love for them.
And sadness for Matt. What a wonderful man he is. I never spoke with him prior to Amy’s passing, but I spoke with him on Friday. I could tell after one conversation why Amy married him. I cannot imagine having to do what I do (take care of my kids and research MPS) and then having to support my family on top of it, without a partner.
Ryan is such an amazing support and I would not have made it this far without him. He is the one person in the world who loves Trey and Avery as much as I do. I would miss so much telling him about what Trey and Avery did today, celebrating their accomplishments, and loving them with every inch of our bodies. I am forever touched by Amy and am so very saddened by Matt and Owen and Aiden’s loss. I wish I lived closer so I could do more for them.

This past weekend, Trey, Ave, Ry and I participated in the BC Children’s Hospital Foundation Miracle Weekend. It was an amazing event with tons of stuff for the kids to do and lots of food. Sunday morning we showed up for a photo shoot with the family and then were interviewed live on Global TV about our experiences at Children’s (see video, below). They raised in total over $14 million dollars (“Tacos” better step up!?).
[flv width=”320″ height=”240″]http://treypurcellcom.nationprotect.net/video/TreyMiracleWish.flv[/flv]

The MPS Cup

This coming Saturday, June 9, is the MPS Society’s biggest fundraiser, the MPS Cup. The ED, Kirsten Harkins, and her husband Todd put it on. It is a fantastic event where you get to watch friends and family take the ice with famous hockey players (Ryan and some of his friends played last year) and then attend an awesome Gala dinner and auction afterwards. This fundraiser is where pretty much all the Society’s research money comes from. Last year they raised over $60,000. For details, go to: www.mpscup.ca. I will be speaking at the Gala.

Trey’s Progress

As far as Trey goes, he’s doing great. He had infusion #18 yesterday along with an ultrasound of his abdomen. The changes we are noticing in Trey as a result of ERT are amazing. He’s growing like a weed (he is so tall!!), his stomach is flat as a board when he wakes up in the morning, his face and facial features are much softer, I notice changes in how he moves, he can hear because his ears aren’t plugged with fluid (which is affecting his speech) and he’s so healthy (although he was healthy for quite some time before ERT as well). We haven’t had to miss a week of ERT yet. Life right now is pretty darned awesome. We are so happy to have gotten Trey on ERT as soon as we did. I will never be able to thank everyone who got us here enough. The only medical result we’ve received recently is his electrocardiogram, which was normal. Oh, and Trey’s hernia sutures are healing up well.

I’m Preggers!

And in unrelated news, I am pregnant. We are having a baby girl and she is due on October 29. I have had a CVS and ultrasounds and everything looks good, so we are pretty excited to add a new member to our family, and a baby girl at that.

Trey had surgery on May 24 for both his inguinal and umbilical hernias. Since a slight temperature and trip to the hospital the next day to make sure everything was okay, everything has been fine. Trey was in quite a bit of pain for the first few days, which was hard to watch, as I’ve never seen him take so long to recover before (although he’s never had a surgery like this before either), but he’s now back to his usual self and everything looks great.
In the past 2 weeks, Trey has also seen rheumatology, ENT, opthalmology, and cardiology. Rheumatology didn’t have anything monumental to say, they just referred us to a PT and OT (physiotherapist and occupational therapist) who specialize in joints. We should be seeing them in a few weeks. I will also find out more about splints for Trey’s ankles and elbows at that time. As far as ENT goes, Trey’s ear tubes look great. They’re still fully in and they’re not plugged, which is great because Trey’s last set of tubes did not last nearly this long. Wonder if it’s the ERT or … Opthalmology also went well. Trey’s corneas and retinas are in good shape. No problems. We’ll see them again in a year, and with regards to cardiology, Trey had a echocardiogram and electrocardiogram, but we have not yet heard about the results. And last but not least, Trey’s weekly infusions are still going well, nothing to report. This past week he had infusion #17.
I have also attached a link for an article in the Arizona Republic newspaper on May 22 about our good friend and inspiration, Simon Ibell and his good friend Steve Nash. To read it, click on the link: http://www.azcentral.com/arizonarepublic/sports/articles/0513youngcp0513.html.

Dr. Escolar. I have been thinking about this appointment for a long time. She’s basically (in my mind) the woman you go see to find out if your child is going to be neurologically affected by Hunter Syndrome or not. When it comes to MPS diseases, they all have their difficulties. What I think is most difficult about Hunter Syndrome, at least in the early years, is the not knowing. With the other diseases, you have more of an idea about what you’re working with. Not with Hunter’s.
Since the day I had a grasp of what Hunter Syndrome is about, I have been thinking about Trey’s brain. Not every second, but almost. Is it affected? Is it not? What kind and quality of life are we looking at? I have always believed that Trey will be okay. I didn’t know how it would happen, but I believed. Does his brain have enough enzyme for it to work? Or will his brain find a way to work without the enzyme? Will intrathecal (injecting the enzyme into the brain…trials will hopefully start in 2008) come along soon enough to help his brain?
I didn’t know how, but I knew Trey would be okay. But that doesn’t mean I didn’t worry. Every time Trey was mildly aggressive (he’s been described as a bull in a china shop), every time he forgot part of the alphabet or didn’t respond quickly enough…every time… Trey has been doing amazingly well, so I’ve been feeling great about Trey, us, and his development, but those thoughts were always around.
And I knew we were coming to see Dr. Escolar. Until the fundraiser was over, my mind was mostly on that, but after the fundraiser, my thoughts went straight to Dr. Escolar and our upcoming appointment. I had trouble falling asleep, I dreamt about it, I thought about it constantly. Life goes on, but those thoughts are always there. And I was a bit crazy about making sure Trey got enough sleep the night before the tests so he could be on his best game.
I don’t know if it’s that Trey got under 9 hours of sleep instead of the usual 10-11, if it’s his age or if it’s the fact that Trey was asked to do hundreds of activities on demand for over 2 hours, but Trey was not overly agreeable. For parts he was fine, but he faded pretty quickly. Ryan and I were both frustrated. Then Dr. Escolar got together with her team to discuss the testing. It’s like you’re standing there knowing that the beginning or the end is about to come. Indescribable, those moments…
Dr. Escolar called us into her office and said something along the lines of: “things are looking good.” From there, I was able to listen. Trey’s speech is still quite behind and she has concerns about his head growth and mobility in his ankles and elbows, but everything else was pretty good, and some was great. Because Trey’s speech is the only aspect of his development that is still lagging behind, she thinks that this due to his hearing problems and not CNS involvement. She thinks that his speech will grow the longer he has his aides.
His fine motor skills jumped 1 years worth in 6 monthes and everything else grew pretty much what it should have in 6 monthes. Both Dr. Escolar and Trey’s PT in Vancouver are concerned about his increased limited mobility in his ankles and elbows, so we are looking into splints at night, and Dr. Escolar is also concerned about Trey’s head growth, so this is something else we are looking into.
For the parent of any other kid, these concerns would likely be huge, but based on the news we just heard, splints and a big head are peanuts right now. Dr. Escolar did not promise us anything, as she did say that she has seen another child whose development dropped closer to the age of 4, but she said that when it comes to CNS involvement in Hunter Syndrome, most kids’ development has started to drop by now. We are not freaking out yet, but we are pretty darned happy with the information we’ve been given. Especially considering we have been told that Trey will have a severe form of MPS II.
And I do believe in my heart that Trey is going to be okay. It’s just a feeling I have. It does amaze me though, how much people can live with. This has been on my mind all day long, with the exception of a few moments here and there, for the past year and a bit. But somehow I was able to go to the park, go out for dinner, play with my kids, make dinner, spend time with friends, etc etc etc. Although we always believed in Trey and knew he would be okay, it sure is nice to have it confirmed by someone who follows the development of kids with Hunter’s for a living. The weight that has been lifted is pretty amazing.

Today was long and frustrating at first, but nothing bad happened, so it turned out to be a good day.
We arrived at the MDU at 7:30am. Trey still had his runny nose from last week. We did his BP, temp, Emla, height, weight and had to leave it at that as Trey’s ERT doctors were not yet in to give the go ahead to order the drug and we had to get to our appointment with Dr. Reilly in orthopedics for 8:00am.
We got to orthopedics at 8:00am and were sent to x-ray for pictures of Trey’s upper cervical spine. At 8:30 we saw Dr. Reilly who told us that Trey’s x-rays are the same as last year. This is great as Hunter’s is progressive. Trey’s top two vertibrae are not fully formed, which we knew from last year’s appointment and is expected in children with Hunter’s. The concern with this and why we will continue to be followed by orthopedics until Trey stops growing is that if this gets worse, Trey can have instability in his head and neck. The good thing is, as long as Trey’s vertibra stay the same, Trey can live a full life doing whatever he wants. It is possible that these vertibrae will fill in with bone, but it is possible that they will not, and this is not a big deal. A great appointment. Good news is always nice to hear.
Then back to the MDU. Trey’s ERT doctor was again uncertain about giving Trey’s infusion because of his runny nose, so she asked Dr. Stockler. Dr. Stockler gave the go ahead providing Claritin and Ibuprofen were given one hour before the start of the infusion and providing the rate was slowed down. Instead of increasing every 15 minutes from 8mL/hr to 16, 24, 32, and finishing the infusion off at 40mL/hr, Trey started at 2mL/hr and went up every 15 minutes to 4, 8, 12, 16, 20, 24, 32 and 40. Needless to say, it made for a long day. We weren’t leaving the hospital until 6:00pm (thank you mom and dad for coming and staying!!). But again, no reactions and he got his enzyme, so I’m a happy mama. Next week, we’ll premed, but put the rate back to the usual rate and if everything is still okay after next week’s infusion, we’ll go back to the same old routine the following week.

Our Tacos for Trey fundraiser yesterday was awesome. It was as close to perfect as a first annual fundraiser could be. Where to start…I’ll go in order. First off, we had at least 10 people come early to set up, cut up veggies, get the raffle and auction organized etc. And in the days leading up to the event, we had as many people picking up rentals, food and raffle/auction items, as well as making signs, painting our house etc. And, besides a few hundred dollars our family spent on beer, decorations and some other things, all at no cost to us or our fund, we did not pay for anything. Absolutely everything raised in our fundraiser is going into MPS II research. We’re pretty excited about that.
So, let’s talk about the amazing people who donated. A smallish and local company called Blue Goose Cattle Company donated 60 pounds of organic ground beef (and if anyone knows how much organic ground beef costs…), Save on Foods donated pop, all of our produce, beans, taco shells, and taco seasoning, margarita mix, and they spoke to Kraft on our behalf, who donated our cheese and sour cream (and this is all food for 300 people). Que Pasa donated chips and fresh salsa, Safeway donated pop, bottled water and more chips and salsa, and Canadian Springs Water donated a water cooler and 5 jugs of water. Happy Planet donated 300 juices, Caravan donated tents, Super Value in Deep Cove donated ice, Paper Parade gave us a discount on decorations, and Molson donated ten dozen beer, even though our event did not fit into their criteria for donations (apparently our cause pulled a few heart strings). This doesn’t even include auction/raffle items, most of which were donated by our awesome friends and family. THANK YOU TO ALL WHO MADE DONATIONS.
The event: around 3:00pm, a camera crew came to interview me for the launch of Elaprase in Canada. They interviewed me and then filmed our family and the fundraiser getting into the swing of things.
People started showing up right around 3:00pm and things didn’t slow down until after 6:00. Friends from elementary school, high school, college and university came, film friends, family friends, friends of friends, work friends, parents of friends, intermediate and extended family came, people we hadn’t seen in years came. It was so much fun.
The catching up was great, but the really cool part (and tears are now in my eyes saying and thinking about this), was the support. Hundreds of people we know, barely know, don’t know, and used to know, came to support Trey and our family. It was truly touching. Ryan was pretty emotional and my sister, who rarely cries (the last time I saw her cry was at my wedding, and before that I cannot recall), cried. I still cannot believe how many people came. To have this kind of support…I’ll never forget it. LoriAnn Bradley, a Shire representative who I’ve heard of many times but never met came, as well as Kirsten Harkins, the ED of the Canadian MPS Society.
What got me crying (I’ve gotten so used to talking about ‘the diagnosis’ it rarely makes me cry anymore) was when Dr. Potter and Dr. Muenzer came. There was a biochemical disease meeting in Vancouver this weekend (total fluke), so a number of MPS related doctors and professionals were in town. Kirsten said she’d try to get some doctors to stop by, but never in a million years did I think that they’d actually come.
Dr. Potter came first. What an honour that he came. He told us a bit about himself, his family, how he got into researching MPS II, and gave us more information about his research. I got caught up when, after asking his permission, we introduced him to the crowd. My mom did it, but I still cried. “Please welcome to our house, the man who we are raising all this money for. The man who is researching to find a cure for our child’s disease. He’s standing here in our yard!!” That one got me teary. And until he met Trey, he’d never met a child or family affected by MPS II. I hope we inspired him to stay in the field.
Then came Dr. Muenzer. Dr. MPS II himself. At our house. We first met him back in November 2006 when we went to North Carolina (he works at UNC) for assessment. I tried to book another appointment to see him when we go back to NC in a few weeks to see Dr. Escolar, but he will be out of town when we are there. So he decided that since he won’t be there when we come to his town, he thought he’d come for a visit when he came to ours.
He is amazing. He’s so good with Trey and he is kind and wonderful and experienced and so incredibly knowledgeable. For those of you who don’t know, he was the man who ran the trials for Elaprase. I got to ask him about Trey’s infusion #13, I asked him about upcoming intrathecal trials which will put the enzyme directly into the brain, I asked him about high dose ERT, which some boys in the US are trying, and I got to hear his thoughts on treating both attenuated and severe children affected by Hunter’s with ERT, which is a very controversial issue, especially in Canada.
And last but not least, I got to hear a bit about himself and how he got to where he is. He came during the latter part of the fundraiser and he stayed until about 9:30pm. For about 2 hours I got to sit with Kirsten Harkins and Dr. Muenzer and just talk. It was surreal and unbelievable and great.
From the people I talked with today, the event was a big hit. And more than just fun. People ate tacos, drank margaritas, hit the pinata, played hockey and chatted. I had a great time, but it sounds like most everyone else did too. The energy and atmosphere was great. People came to have fun and support a great cause. And to give you numbers, we raised over $17,000 yesterday. That, along with over $5,500 raised for the fund leading up to the event, as well as a know $8,500 which will be going into the fund in the next weeks, and we raised over $30,000 for the MPS II Fund with this event. We are thrilled
Our goal was $24,000. SO THANK YOU FOR ALL WHO SUPPORTED US, WHO MADE DONATIONS, WHO CAME TO THE EVENT, WHO HELPED US BEFORE AND DURING THE EVENT…YOU HAVE NO IDEA WHAT IT MEANS TO US. THAT WE RAISED OVER $30,000 FOR TREY AND MPS II…YOU ARE AMAZING AND WE ARE SO GRATEFUL. THANK YOU THANK YOU THANK YOU. WE LOVE YOU!

Alright…infusion #13. Trey developed a runny nose over the weekend, but we went to the hospital on Monday anyways because he had no other symptoms. They cancelled his ERT for the day and agreed to try again on Wednesday providing his cold hadn’t gotten worse or turned into something else. This was okay with me and this is what happened.
Trey did still have a runny nose on Wenesday, but continued to have no other symptoms. We were at the hospital at 8:15am. At that time, his temperature was somewhere in the high 35 degree Celcius range. Trey did start his infusion, but not until 11:00am because Trey’s ERT doctors wanted second opinions etc. Better safe than sorry, and as long as Trey was getting his infusion, I didn’t care how long it took (well, the Elaprase only lasts 8 hours unrefrigerated, hanging in that little bag above his head, so as long as it happened in under 8 hours, I was okay).
He started at 8mL/hr like usual. In 15 minutes, when Trey’s nurse took his temperature to move up to 16mL/hr, it was 36.9 degrees Celcius. This was a little too high for her liking, so she called Trey’s ERT doctor. They decided to give him Tylenol and keep him at 8mL/hr for a while (2 hours). His temperature went back down with the Tylenol and stayed there, so at 1:00pm they agreed to raise him to 16mL/hr. And after another hour of no increased temp or other reaction, they raised him to 24mL. That continued hourly until 40mL/hr was reached. We left the hospital around 6:30pm.
What does this mean? Well, I didn’t know, so I emailed Dr. Stockler, who oversees all of Trey’s hospital care. 36.9C is not considered a reaction (as it is not even considered a fever), but because it was a noticeable change in temperature, they want to be cautious. So for the next few infusions, it looks like Trey’s rate will be slowed down and there may be some discussions about premeds, although I would like to avoid what premeds we can. As long as Trey doesn’t have any serious reactions and as long as he gets his infusions, I can handle the longer days (I think…although last night was a bit of a gong show).

I have agreed to be a part of the launch of Elaprase in Canada. Elaprase should be approved by Health Canada in mid June. Not only am I completely pleased to help, as Shire and Elaprase and all involved have given Trey a new chance at life, but Elaprase being approved by Health Canada is a big deal because there are still many boys in Canada who have not been able to start Elaprase yet. We need to advocate for them until it is they are hooked up for infusions. The feeling of having Trey on Elaprase and seeing what a difference it is making… I can sleep at night.