MPSIIFund News

Infusion #12 is done!!! We (read: Trey) has made it through the riskiest time of infusions without reaction! Although serious reactions can happen up until the six month mark (after six monthes, minor reactions can occur, but nothing serious), the highest chance for an allergic reaction to Elaprase is between infusion #4 and infusion #12. What a great way to celebrate Tacos for Trey.
There was an excellent article in this past Saturday’s Ottawa Citizen about the lack of Orphan Drug Policy in Canada. It featured family friends of ours who we met at the last Canadian MPS Conference, the Lanese’s. There is also an article about our good friends from Campbellford, Ontario, the McFadyen’s. To read it, click on the link: http://www.rogercollier.com/clipping.feature.20.citizen.observer.orphan.drugs.html
In other news, we have planned another trip to North Carolina to see Dr. Escolar for another development test. We will be heading down to UNC in mid to late May. May is full of doctors appointments for us. Trey will see orthopedics, ENT, rheumatology, and Trey will also be having surgery on both his inguinal and umbilical hernias at the end of May. We look forward to May, but I think we will be ready for June when it comes.

For those of you who are coming or are contemplating on coming to the Tacos for Trey fundraiser, below I have included more information on the event. Hopefully it will give you more incentive to come… it’s for a really really good cause (our kid!). We’re raising money (hopefully $24,000) for MPS II research at McMaster University in gene therapy!! The MPS Society is providing half the grant and we will provide the other half. In the raffle, there are gift certificates to: Future Shop, Rona, Starbucks, tickets to the Vancouver Giants, there are gift baskets, among other things, and the BIG TICKET ITEM, as Ry likes to call it, are two flight vouchers from West Jet, which they have so generously donated. In the auction are electronics such as a digital camera, an i Pod, hockey tickets to the Vancouver Canucks and Giants, gift certificates for restaurants such as Bin 941/942, movie passes, jewelry, spa treatments, skis, and a whole bunch of other cool stuff…and I know I will soon get an email from my sister (I love you Mich!) telling me what I’ve missed since she is in charge of the raffle/auction. If you want in on this stuff, arrive before 5:30 as that’s when the draw for the raffle and end of the auction are. Besides the raffle and auction, there will be “Got hope” t-shirts for sale which are pretty great. The t-shirts (kids, youth, women’s and men’s) are by American Apparel, so fit really nicely, and I think they look pretty good too! The tacos should be great, there is a pinata to be bashed around at some point, a mariachi music compilation mix has been made and Ryan’s friend from work, who is apparently well-known for his margaritas, has agreed to make margaritas for the event. And for those of you who opt not to partake in the margaritas, there will be a variety of other drinks, both alcoholic in nature and not, to wet the palate. I’m thinking this will be a great event.

We have a grant to fund!! The Canadian MPS Society has agreed to pay half of a $40,000 grant to Dr. Potter at McMaster University who is doing gene therapy research in MPS II, if we can pay the other half. His project has support from well known MPS II researchers around the world like Dr. Muenzer. We’d also like to give a $4,000 summer studentship grant to a student in Dr. Potter’s lab who will be part of the larger gene therapy project as well. One of the reasons for funding summer studentships is to engage students in MPS research in the hopes that they will choose to continue with MPS research once they become doctors. If you have more questions about either of the grants, please feel free to contact myself or the MPS Society, 604-222-2767 (me) or 604-925-5130 (the MPS Society).
So we have a goal. We want to raise $24,000 for the MPS II Research Fund between now and “Tacos for Trey.” If you can help us do this, we’d appreciate it! The money is going straight into research that we are very excited about. I am so glad that through our MPS II Research Fund we will be able to fund an MPS II grant this year. Had we not decided to have this fundraiser, it is quite possible that the only grant going out this year would have been to Lorne Clarke from UBC, doing biomarker research in MPS I. His research will  eventually apply to all forms of MPS (we had a visit from Dr. Clarke today, so Trey will soon be a part of Dr. Clarke’s biomarker study), and from my understanding it will help diagnose severity as well as help with prenatal diagnosis, but the more grants we can fund, the more research that will be done, and the closer we are to finding a cure.
Last week Trey had infusion #8 and today Trey had infusion #9. Everything is going really well and he continues to have no reactions. Trey’s tummy is still getting smaller, his skin feels softer, his joints are loosening and we also notice a difference in his facial features. It’s absolutely great.

Everything today went well. No reactions. My reason for continuing to update about the infusions when there are no reactions is because infusion reactions have been most common between infusion #s 4 & 12. For my family and friends who are out of town and concerned, I want to keep them updated. Once Trey passes infusion #12, I will likely only update when there is a reason to!

Since the article in the Vancouver Sun has come out, I have had the opportunity to speak with quite a few more parents whose children have MPS II, and many more whose children are “intellectually intact.” What I have found so interesting about these conversations are that across the table, with no exceptions, these parents were told their children were severely affected and would die in their teens or before, with brain involvement. All of these children had developmental delays and one of the moms even noted aggressive behaviors in her children with Hunter’s. It was around the age of five that these moms noticed their boys coming out of their shells. Until then, they were having some trouble. And now they are in school and doing very very well. Now if there’s a reason to believe… (although I am wondering about the doctors who have given these diagnoses. It’s one thing to prepare parents for possibility. It’s another to completely devastate them and destroy all hope, when all hope is not gone).
And still more great news. Trey’s shoulders are doing well (his physio, Jane, was here today). His range of motion has increased. His elbows and achilles tendons are still a bit tight, but the ERT should help this. Pretty great news. Lots of love, Deb
PS. Above is a picture of Trey’s new cat, Boo!

Trey turned 3 last Thursday, March 1. We had a great day. In the morning the three of us went to music class with Trey and Ave’s cousin Oskar. We came home for nap and in the afternoon we went swimming and swam and jumped like Shamu. Pizza was for dinner and at 6:00pm, we went and picked up Trey’s new kitten, Boo. Both kids love Boo and have so much fun with him. They also love taking care of him, feeding him, brushing him etc. Omi (my grandma), my dad, and sister spent the day with us.
Three years. How much has happened. I remember three years ago when Trey was born at BC Women’s Hospital. After he was born and the Apgar scores and everything were taken, all the hospital staff left the room, so Ry and I could have some time alone with Trey. I remember asking Ry if they should really be leaving us alone: “Do you know what you’re doing?” I asked him. What fun the last three years has been. Better than any other job I’ve ever had. Sometimes I used to wake up before going to work or school and not want to go. That’s never happened once as a mom. Sure there’s been moments, but never once have I woken up wishing for the day not to happen. These little ones make life worth living.
Our story was also on Shaw cable yesterday and when I get a copy, I will put it on the site.
And last, but definitely not least, Trey had infusion #5 today. We arrived at 7:25am, and after the pharmacy taking so long to get the drug up here again, the MDU nurses decided we should no longer come so early. We did Emla, weight, BP etc. like usual, and then waited. The infusion started at 10:00am and finished just after 1:30. With a 1 hour wait, we were leaving the hospital close to 3:00pm. Another day and no reactions. Yeah!!!!!!!!!!!

We arrived at the MDU at 7:30am. It took a little while to get Trey started on Elaprase because the pharmacy was slow and there was a situation in the Medical Day Unit (someone got sent down to the ICU), but otherwise things were uneventful (a good thing!). Emla, BP, temp, weight, and a listen to Trey’s chest were first thing. Tamara (SLP) came at 9:30, the port was accessed and ERT began at 10:00am, naps happened around 11:30, and we left at 3:00pm.
Details: The nurses used only paper tape on Trey’s skin, as he has been reacting to the adhesive used in the past 2 weeks. It worked. No redness. Also, which was a totally unexpected and thoughtful surprise, was a birthday present for Trey from the MDU nurses. They sang him happy birthday and gave him a book, a stuffed animal, and some hot wheels cars and a track. Trey was so thrilled he was jumping up and down. It was really cute. It is Trey’s third birthday on Thursday. Tomorrow morning we have someone coming to do a clip for Shaw television.

We got home tonight after just under a week in San Diego. It was great. Not a lot of sleep and Trey, Ave and I got the stomach flu, but that only lasted a few days, and it was our first family vacation as a family of four that didn’t pertain to MPS!! We hung out and went to the beach, Sea World, and the San Diego Zoo. The kids loved it and we had so much fun. They now do big splashing jumps in the bath and onto the bed, like Shamu the whale. When I checked email after not being online for a week, I was overwhelmed by how many emails I got in response to the NS News and Vancouver Sun articles. Pamela wants to do a follow up story next month, someone else wants to do a television story on Shaw, and best of all, I got 2 emails from families trying to get Elaprase for their boys in Canada. One family is from Quebec, whose son was recently diagnosed, and one is from Alberta. They Albertan family is currently living in the US (originally from Canada), but will be moving to Alberta and want to know how we got Elaprase for Trey. Apparently Trey’s story was in a number of papers across the country. I had no idea the article would be this far reaching and I am so glad if I can help other families, in any way, get Elaprase for their kids. This is what it’s all about.

We arrived at the MDU at 7:15 am. Trey had his temperature, blood pressure, weight, height, and a listen to his chest done, and then the Emla was put on. The infusion started at 9:00 am, ended at 12:25, and we were leaving the hospital by 1:30 pm. No reactions, no hold ups, everything went well. Have I mentioned how awesome the MDU staff is? Trey actually enjoys being there. His nurses are so nice and he is not even phased by the “arm hugs” (blood pressure cuffs) and temperature measurements every 15-30 minutes, and he is only barely phased by the accessing and de-accessing of his port. We also had a visit from Ryan’s mom, Gayle, and a good friend of ours, who has 2 kids of her own, and used to babysit Trey while I was in school, and who just finished training/school to become an air traffic controller, Linnae. Congrats, Linnae!!

In the past 2 days I have gotten 2 calls from Alberta. One from a man from the U of A who works with a family who has three boys living with Hunter Syndrome and the other from the mama of those three boys. I spoke with them in depth and after those conversations, I am more than ever convinced that we need to raise awareness and create an Orphan Drug Policy.
This family’s oldest son, who is now 7, was not diagnosed with Hunter Syndrome until a year and a half ago, even though his mom has been looking for answers for years. The big head, the recurring colds, the hearing loss, the clawed hands, were all explained away, and it was finally a dermatologist who noticed the “pebbly” skin, common in kids with MPS II, who saw all of these symptoms together as Hunter Syndrome.
This is completely unacceptable. We were fortunate enough to not go through all of this, as Dr. Thiessen noticed these symptoms in Trey the first time he met Trey, but I do wonder, if we had not decided to change pediatricians and go see Dr. Thiessen last Valentine’s Day, when would Trey have been diagnosed? Three years of five days a week at the doctors office and hospitals looking for answers is not okay. If more people knew about Hunter Syndrome, maybe this would not happen.
If we had an Orphan Drug Policy, I would not have had to call the Minister of Health to demand this treatment for my child, and then spend the next six monthes in conversations with the drug company, doctors, hospital, activists, and government, doing everything I could to get my child access to Elaprase.
I know for certain, that although I had much help along the way, if I had not initiated these conversations and persisted, Trey would not be on ERT right now. And this mom would not have had to spend her time contacting all the same groups, and the media on top of it, still with no treatment. If we had an Orphan Drug Policy, this treatment would be available to our children, as cancer treatment is available to kids with cancer, or all of the other medical services we get that we take for granted and don’t have to fight for.
Onto other topics…first, Trey’s inguinal hernia…it does not need to be repaired with urgency, for three reasons: first, Trey’s age. Inguinal hernias are more likely to become incarcerated (stuck, strangulated) in young children (ie. newborns). Second, because it is not a small hernia. If the hernia was small, it would be more likely to get incarcerated. Third, because we have a reason to wait. Usually, because there is no reason to wait and because all inguinal hernias do need surgery, inguinal hernias are repaired fairly quickly. However, because we want to wait until the ERT has a chance to strengthen Trey’s connective tissue and shrink his organs, thus reducing the likelihood that the hernias will return, the surgeon said he is very comfortable with waiting three months until the ERT has had a chance to work its magic.
We also saw the Osteopath yesterday, who said that the fluids in Trey’s head and spine are moving well, and the bones in Trey’s head are also more malleable.
When Trey first saw Caroline, his head was very hard, unmovable, and the fluids in his head and spine were thick and slow (this is not good). In the past 5 months she has managed to get the fluids moving and help the bones in his head to give more, which helps Trey’s entire body and systems, but will also help to prevent communicating hydrocephalus, which can be a serious problem in kids with MPS. Since there is no other way of getting these fluids moving, we’re really happy we were recommended to see her.
We’re going to see her in one more month, and then we’ll probably only see her for check ups every few months. She also commented that although ERT may not break the BBB, she believes that it must help the brain at least indirectly because if the ERT is helping the rest of Trey’s body, this will, by default, help the brain. Pretty cool.