MPSIIFund News

I have to “go there” a bit in order to write this blog. But I don’t want to and I’m not diving in. Human clinical trials for gene therapy in MPS II Hunter Syndrome are around the corner. We could begin next year. *IF* we raise $2.5 million dollars. Right. That.
Along with a few other MPS II parents, I spoke with our gene therapy researchers, Dr. Doug McCarty and Dr. Haiyan Fu, a couple weeks ago. Mice with MPS II start dying around 7-months of age. When Dr’s Fu & McCarty treated their mice that made it to 9-months old with double the dose of what they give their younger mice, these 9-month old mice came back. They normalized. I don’t know how many months old my Trey mouse would be, but can you imagine? I don’t even know what that would look like (to be clear, I don’t want Trey as anybody other than who he is, but avoiding early death, surgeries, hospital trips, and letting him be as independent as he can and wants to be would be my dream). Trey as a typical 13-YO kid? I won’t. I can’t. Not yet. It’s too scary. The letdown would be too monumental. Even writing this I’m choking back tears and emotions. Shove them back down. For now.
BUT, I do believe it is possible. WITH YOUR HELP. The thing is, with a rare disease, we NEED your help raising awareness. Nobody knows about MPS II Hunter Syndrome but us and in order to raise $2.5 Million dollars, we need people to know.
With gene therapy SO close, our MPS II community has banded together. We’ve organized teams. If each team raises $10,000, we’ll reach $1 Million. I think we can do better. Our runs raise $10,000 each year without a cure on the horizon. Tacos for Trey raised $20-40,000. Our gala raised $80,000. $10,000 is attainable. Let’s beat $10,000. $10,000 to see a Trey who has no physical or cognitive limitations?? I’d give a f@*k of a lot more than that.
Our MPS II community has also created a documentary series about MPS II Hunter Syndrome to raise awareness. The first of the episodes will be released on May 15- International MPS Awareness Day. Here’s the trailer.

So what can you do? 1. Watch the trailer. 2. Along with the trailer, share a link to our Scotiabank Run fundraising page:
https://www.gifttool.com/athon/MyFundraisingPage?ID=2012&AID=3532&PID=606221 
Ask your community to donate and tell them why they should donate. Tell them how close we are to human clinical trials. Tell them how you know Trey and how MPS II Hunter Syndrome affects him. Tell them how MPS II Hunter Syndrome effects you.
THANK YOU. If you have questions, ask. I’m a mom on a mission to save her kid’s life. I’ll do anything. The fire-breathing dragon has been mostly sleeping for the past few years, but she’s being called back out… it is time.

There are so many “Day’s.” Anti-bullying Awareness Day, World Thinking Day, Earth Day, World Cancer Day… google it and you’ll find days you didn’t even know existed! Rare Disease Day is one that matters to me, probably obviously, but you may not know why.
People don’t donate to causes they don’t know about. Why would they? Your grandma had Alzheimers, your mom has breast cancer, your uncle had a heart attack, your friend has diabetes. If someone is going to donate to a cause, it’s one they’ve seen hurt the people they love. The more people who have something that needs curing, the more people who know about it and the more people who will donate to it. Which is a good thing- except when it comes to rare diseases, and which is why we need YOUR help.
Aside from a few companies who manufacture rare disease drugs or doctors who recall MPS being vaguely mentioned during the one day in med school that covered lysosomal storage diseases, the vast majority people who know about MPS are the ones who’ve run into kiddos with it. YOU. And the only way we can raise awareness about rare diseases so that people who don’t know Trey can say: “Yes, I know a rare disease called MPS! My friends’, neighbours’ brother has it,” is by talking about them. A LOT. Tell people how MPS affects YOU. Is Trey your neighbour? Your student? A patient? A member of your community? A friend? What do you see when you see Trey and our family? Why does he need a cure? YOU need to talk about it and it needs to be personal. Especially if they’ve never met Trey, you need to give them a reason to care.
So this is why Rare Disease Day matters to me. It’s a day I can ask that you share something about MPS on Facebook, at work, with a friend, at a class you’re teaching… Show them pictures of Trey or Trey’s website. Talk about the impact MPS has had on your life.
Please. Do it today or do it any day between now and February 28. Or maybe every day. Mark it in your reminders. Talk about MPS. So we can raise awareness about this and other rare diseases. So we can find a freaking cure for this soul-crushing disease that takes our boys away from the families who love them- from the people who would die for them if it meant their child would live. Rare Disease Day Matters.
For more information on Rare Disease Day, go to: http://www.rarediseaseday.org/
Love Deb
PS. You may notice the poster was made by the Mesothelioma Cancer Alliance. Rare diseases unite!!
This picture is of Trey 4-months before diagnosis, at 19-month of age.

Ryan & Trey Purcell

Short but sweet. Y’all might love this given my usual essay style blogs. 😉
Trey was diagnosed 11-years ago today. I was scared of moms like me when Trey was first diagnosed- moms who knew the insides and outsides of MPS. Hearing moms talk about seizures and g-tubes and cognitive delay made me want to throw up and hide. I didn’t want this life. I wanted normal. I wanted ignorance. But now that I’m in it, it’s more full of love and openness and friendship than I ever could have imagined. Scary and sad it is, but that’s life. The “before” me would have learned that eventually. So here it is. D-Day. A day that changed my life. And although meaningful and significant, it is no longer a day that feels like the end of the world. It’s a day where I got to drive Trey to a school he loves. A day that I get to pick him of from a school he loves. A day that I get to talk to him and hug him and tonight, give him kisses as high as he can count- through giggles. A day like that in rare disease world, I would take forever.

In the past few months I’ve started a number of blogs that got interrupted by life, so I’ll give you a shortened version here, followed by information about our yearly Vancouver Scotiabank 5K & ½ Marathon fundraiser! Here goes:
One of Trey’s biggest changes in the past year is starting school- high school no less (Trey turns 13 on March 1, which is INCREDIBLE). Trey homeschooled until now. The elementary public school system in BC is just not set up for a kid like Trey. Trey wants to be included, but can’t do anything at grade level, so he would have been pulled out of class for almost everything, which would have been sad and hard. I found a high school program though, that is basically a mini Special Ed school within a larger public school. Kids in the Special Ed program can be integrated into things that they can participate in meaningfully, and stay in the Special Ed classrooms for things they can’t. The neat thing is, because the program is so big, even when Trey isn’t integrated, there’s a bunch of other kids around, so he’s not alone or isolated.
I am IN LOVE with the program. The highlight of the program is that the woman in charge of Trey’s program SEES Trey. She sees the well-intentioned, good-hearted, kind, friendly, generous and beautiful kid that is my son. She doesn’t see only the kid who tells adults “you have to go” when he wants understandable control and independence over his life or a kid who most of the world sees as disabled. Another aspect of the program that I am so grateful for is that they REALLY understand teens with intellectual disabilities. I didn’t realize until Trey joined this program, how lost I felt and how much there is to learn for a mom of a teen with special needs. I was clueless. Imagine transportation, friendship, going on outings and joining programs without an adult who knows Trey well, using a public restroom, and puberty (to name a few) for someone who is intellectually a young child and doesn’t understand all the social intricacies of our culture. It’s complex, sometimes scary and wonderfully heart-warming. I am on board with this journey. I LOVE the families we have met. They get me, they get us. I’ve always had my MPS II dragon moms (and a few dads too) to talk to and support me, but they are far away and can’t get together very often for playdates. We’re finding community here. For his 13^th birthday party, for the first time ever, we are inviting Trey’s FRIENDS to his party. HIS friends.
For medical updates, Trey continues to receive weekly IV Enzyme Replacement Therapy (ERT) and monthly IT ERT which is still in clinical trial- no major updates there.  We also still have our every 6-12 month doctors appointments, which goes hand in hand with anticipation and trepidation. The spinal cord in Trey’s neck is compressed enough from build-up that he can no longer ski, toboggan, skate, do gymnastics or anything else with a risk of falling. Falling risks paralysis. This is obviously hard news to bear, but in the scheme of MPS, it is literally not the end of the world like MPS can be (AND it doesn’t require surgery at this point), so we are grateful and find joy in other activities. Trey also received a new port last July for his IV infusions; his previous port lasted something like 8-years, so it did him well.
And last but not least in the updates of our family, another discovery for me: raising siblings to a child with a rare and progressive disease. Avery is currently participating in a sibling support group for kids with special needs, which is a big deal. Our family is so used to our family that sometimes we forget just how different our family is from most. We can’t play family board games or do family puzzles or go on family bike rides or go on family vacations with any kind of ease or relaxation. We can’t leave anything lying around the house without it getting broken. Avery and Sadie get frustrated often- it SUCKS when you forget and leave something out only to discover it ruined- which needs validation and leads to conversations about compassion, empathy, and all of our differences and strengths and weaknesses. On the flipside, they patiently help with shower routines, shoe tying, reading, buttering toast, and are scared of what might happen to Trey and worry about how they will support him once Ryan and I can no longer do so. There are a lot of things coming up for Avery and Sadie having a sibling with MPS, but I am learning and we are talking. They are (Raleigh too- she gets a LOT of love from Trey ;-)) are incredible siblings. 
I’ll wrap this up and get to the Scotiabank Run. On Sunday, June 25, we’re running in the Vancouver Scotiabank 5K & ½ Marathon to raise funds for MPS II Research. If you’d like to join us and run in the 5K or ½ Marathon, shoot me an message. If you’d like to donate, there’s a donate button on the right hand side of every page. 99% of donations go to research. Not all charities can say this!
Since 2007 when our family began the MPS II Research Fund, our fund has grown. A number of Canadian MPS II families have joined our fund and The Isaac Foundation, and are organizing their own fundraisers. Jack Higginson lives with MPS II and his family is organizing a gala on April 29 in Peterborough, Ontario. If you’re in the area, their huge extended family is one to meet (they’re funny and loving and passionate and real), and all proceeds go to MPS II! See their website for more details: http://www.jacksjourney.ca/ 
With love and endless gratitude for your support,
Deb, Ryan, Trey, Avery, Sadie and Raleigh

The Hunter Syndrome Research Coalition (the result of our MPS II family banding all our organizations together to fund research) recently donated $200,000 to support the next phase of Dr. McCarty and Dr. Fu’s MPS II gene therapy work.
We are incredibly thankful to our donors – friends, families, and even strangers, from little children, siblings, parents, to grandparents, who make our work possible.
The next steps of fundraising and research funding will require even more concerted efforts – over $2 million is needed to bring the research to a full human clinical trial. We will be reaching out soon to gather support for our future efforts. Thank you so much for your donations and efforts so far to help save this generation of boys with Hunter Syndrome!
Below is our press release:
COALITION OF PARENT-LED FOUNDATIONS BRINGS GENE THERAPY TREATMENT CLOSER TO REALITY 
Parent led-fundraising efforts have donated over $500,000 to treat the rare disease Hunter Syndrome (MPS II)
Vancouver, British Columbia – Over the past three years, parent-led efforts have raised half a million dollars to support gene therapy research at Nationwide Children’s Hospital (Columbus, Ohio) to treat the ultra-rare disease Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II). This month alone, Vancouver, Toronto and Montreal based MPS II Research Fund, along with Nashville-based Saving Case & Friends, Ohio-based Help Extinguish Hunter Syndrome, and Texas-based Hunter Syndrome Foundation collectively donated $200,000 to bring the research closer to a human clinical trial.
Together with several other parent-led fundraising efforts – Caring for Carter, Ryan Our Lion, and Hope 4 Hunter, these foundations have supported this research, led by Douglas McCarty, Ph.D. and Haiyan Fu, Ph.D. of Nationwide, for several years.
Hunter Syndrome is a rare, genetic condition that affects approximately 2,000 patients worldwide, almost exclusively young boys. Patients are missing an enzyme, resulting in the accumulation of cellular waste throughout the body. Babies develop normally for the first few years, then begin to experience progressive symptoms like stiff joints, enlarged liver and spleen, behavioral problems, constant ear infections and runny nose, and heart valve complications. The average life span for someone with the most common, severe form of the disease is in the early teens.
There is no cure for the disease, although once diagnosed, patients can begin receiving a weekly infusion of an enzyme replacement therapy. This medication, Elaprase, is one of the most expensive in the world, often $400,000 or more per patient, per year, and only stabilizes some of the physical symptoms of the disease. Because it does not cross the blood-brain-barrier, it does nothing to prevent the progressive brain damage that occurs in most children affected by the disease.
Dr. McCarty notes, “This gene therapy for MPS II is the result of more than a decade of collaborative research efforts of the research team here at Nationwide and Dr. Joseph Muenzer [of the University of North Carolina, Chapel Hill], with support from MPS II patient family foundations. This gene therapy approach targets the root cause of MPS II by delivering the correct gene using a vector that can cross the blood-brain-barrier. Our preclinical data have shown great promise with lifelong benefits in MPS II mice after a single intravenous injection. We believe that we are well positioned to move forward towards a Phase 1/2 clinical trial in patients with MPS II.”
To raise funds, the foundations organized local fundraisers and also promoted an award-winning online campaign called Project Alive (ProjectAlive.org). The campaign received a Telly Award for its powerful and emotional video and an Honorable Mention for its song “Alive,” written by a parent of a child with Hunter Syndrome, from the International Songwriting Competition.
About The MPS II Research Fund
Started in 2004, the MPS II Research Fund is a leading Hunter Syndrome research and advocacy organization within The Isaac Foundation, raising awareness of Hunter Syndrome globally, funding curative research for the disease, and advocating for patients and families affected by Hunter Syndrome. For more information, visit www.treypurcell.com or www.theisaacfoundation.com.
TAGS: clinical trials, pharmaceutical industry, drug development, patients, rare disease
Note: The photo above is Trey’s first ever school picture (he’s been home schooled until now) at West Van High!!

Gosh, I don’t blog a lot these days. There’s a lot of reasons for that: 1. Trey is doing well, so my need to write with updates or for cathartic reasons is not as often (of course, this is relative and speaking from rare disease world, as last week Trey had ERT Tuesday, sedated tooth extractions Wednesday, Intrathecal ERT under general anesthetic Thursday and left yesterday with Ryan to UNC for clinical trial testing). 2. I’m not doing as many fundraisers. 3. I have been and am making a conscious effort to live presently and watch and be instead of spending so much tim up in my head (which leads to writing ;-)). With that said, have I got some updates for you!!
First, our family’s ONLY fundraiser of the the year, the Scotiabank 5K & 1/2 Marathon is on Sunday, June 26!! Please join us to run or cheer or donate! If you want to run or cheer, send me a message for more info. To sponsor a runner, you can check out “Team Trey’s” page and donate to any of the runners! Click here to check out who’s running for Team Trey.
If you’re on the fence about donating, here’s a couple things to consider: 1. MPS is rare so we don’t get as much love (or donations or awareness) as other more common diseases 2. Rare disease research is completely privately funded- there is not government support- so every dollar matters!! Because of this, I am SO grateful to the Higginson’s extended clan (http://www.jacksjourney.ca/) and JF Aublet & Edith Lacroix’s family (Hope for Felix-Antoine, Felix-Antoine is pictured above) for joining The Isaac Foundation and fundraising for the MPS II Fund. It takes a lot of the pressure off and brings so much community and sense of family not only to our fund, but the entire Isaac Foundation. 3. The Isaac Foundation puts your donations straight to research. Check out The Isaac Foundation’s CRA status here, it’s something we are very proud of!
If you haven’t seen our Grants page yet this year, it’s worthwhile to take a look. On January 31, 2016, with the awesome support and generosity of The Isaac Foundation, our MPS II Fund granted $62,000 to Dr. Douglas McCarty at Nationwide Children’s Hospital for his MPS II gene therapy program (we started funding his research back in 2013). There are so many reasons I’m really excited about Dr. McCarty’s work:

1. Dr. McCarty’s wife, Dr. Haiyan Fu, has led the way with gene therapy research in MPS III, which means that they have worked out many of the kinks with applying to the FDA, with pharmaceutical companies etcetera, so that the MPS II program is moving speedily and steadily along.
2. Dr. McCarty gives us regular updates and is very down-to-earth and transparent with his process, which builds trust, hope and excitement!
3. Dr. McCarty has gained the support of MANY MPS II organizations all over North America, which enables his research to go faster and farther!
4. And last but not least, Dr. McCarty’s research is promising and is getting darned close to human clinical trials.

If you’re still reading, grab a tissue, you’ll need it. In April, Trey was in our homeschooling group’s production of Peter Pan at Kay Meek Theatre in West Van, which had been rehearsing since September (look at my beautiful kid on the far left, he’s having the TIME OF HIS LIFE). The week after the shows ended, I sent an email out to the group thanking them for supporting Trey, for without the entire families supporting Trey, he would not have been able to be in the show. This included everything from kids making sure Trey was in the right spot at the right time doing the right thing, to parents talking to their kids about Trey’s differences, to the directors and backstage parents (which spills down to their kids) speaking respectfully to and about Trey. I wanted to share with you one of the responses I received from the email I sent out because if everyone could see Trey through these eyes, well… read for yourself (permission was granted to share this email, but the name has been changed to respect privacy):

“Trey has enriched Emily’s perspective on life immeasurably. She talks about Trey often. The way she views the world is different now as she considers Trey. He is no longer “disabled” in her mind. She now sees him as someone needing to have access to different help than she does. She thinks about him when she sees the way the world is and considers how we can help him play a bigger role in it.
One example: Emily wrote up a science lesson on self-driving cars. Trey features in her writing as “a boy I (she) knows, that when he grows up, a self driving car will give him independence he couldn’t have.” I was in tears. It’s a simple reflection, but I know from listening to her talk about him, there is a changed world view behind those words.
The advantage of Trey in MT Deb is completely ours to share.”
And if you’re not completely bored yet, below are a few links I have shared on Facebook, in case you’re not on Facebook or missed them.
An article from the Wall Street Journal that reminds me I am a dragon mom. Trey may be doing well, but that is because of a drug in clinical trial for a rare disease. This article strikes that all too familiar fear into my bones and reminds me that I will likely always need the ability to breathe fire for my boy: http://www.wsj.com/articles/mental-dystrophy-at-the-fda-1461885588
An update on Isaac McFadyen, the child behind The Isaac Foundation, our friend, and a boy who is only weeks younger than Trey and was diagnosed just months before him: https://www.theisaacfoundation.com/stop-this-train-an-update-on-isaac/
A song written by MPS II mom, Melissa Hogan, which helped raise a welcome amount of awareness for MPS II and was nominated for numerous awards (grab a tissue for this one too): https://www.youtube.com/watch?v=F7MubmW7dxU
Love to you on this first day of May. XOXO Deb

I cannot tell you how many blog posts I have begun over the past 4 years and not published (well I can because I saved them, over 20). Everything I write is wrong. I guess that’s what happens when a drug trial divides your community. On the one hand, I want to tell you what this intrathecal drug has done for Trey, what it has done for our family, and what it has done for our quality of life. I want to give hope to newly diagnosed families, because I have been told numerous times that is what Trey’s website has done for newly diagnosed families, give them hope.
On the other hand, when editing a blog, I always read it from various perspectives. And that’s where it ends. My blog. I can’t tell you all the great things this drug has done for Trey, our family, and our life because it’s not fair to all the families who want, but have been excluded from, the trial and access to the intrathecal drug. It’s a giant slap in the face, and not an insignificant slap. It’s a slap where some children live and some children die- when all the children could live. I know these dragon parents don’t blame me for Trey getting into the trial and their boys not, but if Trey hadn’t gotten into the trial and I had to read regular posts in our MPS or rare disease community about how great someone’s life is because of a drug that is tangible and real and saving lives, and although I fought with everything I had for this drug, the brutal unfairness of the pharmaceutical industry and approval agencies and lack of advocacy from organizations that I would think should force equal treatment to all humans, prevented my child from accessing this drug, I would barf or curl up in a corner and not get up or kill somebody. And I don’t want to do that to the awesome dragon mamas and parents I know. So I don’t write. If you wanted to know why.
Anywhoo, with enough intensity for a moment, this blog is about Million Dollar Meds, a project that took years to create and complete through UBC and the CIHR (Canadian Institutes of Health Research), that is all about living with a rare disease in Canada. We were a pretty big part of it, so although I am biased, if you’re interested in rare disease, it’s a great website to check out. And on International Rare Disease Day to boot!
www.milliondollarmeds.com
If you want detail on the above, call or email me and I’ll give you the goods.
XO for now,
Deb and the fam
PS. The above photo is of Trey and his service dog Griffin, right before bed. And yes, Trey is wearing nail polish, it’s part of having a sister and being a super nice brother. 🙂
PPS. Trey was diagnosed 10 years ago this past Valentines Day, which is a crazy thought for me to entertain.
PPPS. Trey turns 12 tomorrow (woohoo!)! We’re having pancakes with kiwi and mangoes and bananas, by request. And sushi for his party. Of course. With each year past age 10 that we never thought we’d get, it’s a day to celebrate.

I grew up watching My So Called Life with my sister, completely in love with Angela Chase (Claire Danes) and Jordan Catalano (Jared Leto). My sister wouldn’t let a word be spoken when it was on or you got kicked out of the room. It was our thing. My dad even got on board and watched it with us. It’s a great memory from when I was younger.
So when I found out that Jared Leto is backing Project Alive and joining our cause to raise millions for gene therapy research for MPS II and find a cure for our sons, I FREAKED OUT! You can probably imagine… Check this out!
[youtube]https://www.youtube.com/watch?v=4k_W5I3htqo[/youtube]

Project Alive began from one photo.
One teacher.
A kindergarten teacher in Spring Hill, Tennessee, sent home photos with her children at the end of the school year. But little did she know that her fun project would emerge into Project Alive.

One such photo was of a boy, Case Hogan, who suffers from Hunter Syndrome. It said that he wanted to be a fireman.
Indeed he did.
His mom had taken him to the local fire station on several occasions to check out the trucks, high five the firefighters, and try on the gear. It was hard to get him to leave.
But even knowing that he wanted to be a fireman didn’t change the gut wrenching feeling when his mom saw that photo.
She couldn’t even breathe.
The idea that a boy with Hunter Syndrome could dream to be a fireman flew in the face of everything she knew to be true about the future of the disease. He was not expected to live past his teens.
She saw the photo and immediately realized that what she wanted more than anything, and what he wanted, in order to fulfill his dream of being a fireman, was to be ALIVE.
Please watch this video and share. All donations will go to gene therapy research, our closest hope for a cure.
[youtube]https://www.youtube.com/watch?v=JfND0NF1Mi4&feature=em-upload_owner[/youtube]
You can view the full website here: http://projectalive.org/

Just writing this title, my heart catches in my throat. It’s a loaded statement, which is an understatement. Loaded because we were told from one doctor Trey would die by age ten, loaded because with the physical progression of the disease, we didn’t know how Trey would be walking (or *if* he’d be walking) at age 10, loaded because when we found out Trey’s brain was affected and realized his cognition was declining at the age of 6 1/2, we didn’t know if he’d have the cognitive ability to walk, and if he did, if he’d have the cognitive ability to be able to walk around a 5K track!
That said, I’m not sure how it’ll go. Last year we kept him on the sidelines because it was safer. This year, after having watched his brother, sister, and cousins run, he is ADAMANT that he wants to run. So I’m throwing in the safe towel and embracing his passion and desire. I know he can run, I just don’t know if he understands that he’s got to run a long ways, not decide to poop out 1/2 way through, and cross a finish line! We may have to come up with some motivators along the way to keep him going. I’m also not sure he won’t stop and talk to every spectator on the street! But it’s worth it, because even Trey’s understanding and ability to have the desire to want to do this is amazing in my world. So I’ll be courageous for Trey.
I will most definitely have tears streaming down my face from start to finish. Because Trey running in a race at the age of 11 (he turns 11 on March 1, can you believe it??), for all the reasons mentioned above, will be a BIG deal for me. And that at that finish line, I am going to have the biggest, sappiest tear-stained smile on my face and a big bear hug for my big kid. Trey never ceases to amaze me.
If you want to join us for the Scotiabank 1/2 Marathon or 5K on Sunday, June 28, 2015, shoot me an email and I’ll get you all set up! If you aren’t close to Vancouver, but are close to Calgary or Ottawa, The Isaac Foundation also has teams there you can join with to run!
If you can’t join us, but would like to donate, check out these adorable links below to sponsor my entire family!!
Trey’s Run page
Avery’s Run Page
Sadie’s Run Page
Ryan’s Run Page
Love to you all and thank you for your support,
Deb