News, Stories, Research Grants, and Announcements!

MPSIIFund News

Construction Cares is Coming Up!!

Naikoon Contracting Ltd. has stepped up to support our MPS II Research Fund in the most incredible way. Last year, the owner of the the company that built our house, Joe Geluch, approached me to put on an event for our fund after learning about Trey through building our house. The event has come to fruition!! On Sunday, April 22, 2018, Naikoon Contracting Ltd. is presenting Construction Cares, an exciting indoor fair running from 11am to 5pm at The Pipe Shop in North Vancouver, with proceeds going to our MPS II Research Fund! This indoor fair is for adults and children of all ages, with games and activities hosted by local businesses. Bike Valet and admission are by donation, and activity tickets will be on sale for $2 each.

Activities include: a Construction Station sponsored by Naikoon Contracting Ltd.; Decorating Station sponsored by Pro Works Painting; Gardening Station sponsored by LifeSpace Gardens & GardenWorks; and Face Painting sponsored by KYBE Electrical Contracting.

There are super-fun games too, all with a prize for the highest score of the day, including a Spider Boxer game sponsored by Griffins Boxing; Electronic High Striker Game & Kiddie High Striker Game side by side (so adults and children can play together); and an Xtreme Skateboard game.

Also look for our bike valet sponsored by The North Shore News; music from Tall Music DJ Services; hourly 50-50 draws from our emcee Kevin Evans; and some amazing prize baskets put together by local businesses that are being raffled for $2 a ticket.

Everyone welcome, rain or shine, with net proceeds from this event benefitting Hunter Syndrome/MPSII research.

Spoke with Dr. Muenzer Regarding IT Trial Set-back

I spoke with Dr. Muenzer today regarding the IT Idursufase trial not meeting it’s endpoints. If you have any questions regarding the future of the trial, please feel free to reach out to myself or Dr. Muenzer. If you don’t have Dr. Muenzer’s contact information, I can provide you with it (he gave me permission). For any family in the trial or for concerned extended family or community members, he would like to provide as much information as he can in order to relieve anxiety, so please don’t hesitate in reaching out. The trial did not meet its endpoints, but this does NOT mean the drug does not work and it does NOT mean the trial is shut down. Dr. Muenzer knows the drug works. He sees our kids and he knows where they would be without the drug.
People have pointed out to me in the past day that gene therapy is coming up if this trial does get shut down. One: this trial is not getting shut down unless it’s over my jailed or dead body. Two: Gene therapy is hopeful and likely, but I will not rest my child’s life on hope and possibility. Nobody knows this better than families who have kids with MPS II Trey’s age and older. When Trey was diagnosed at the age of two in 2006, IT trial research was already going on. I spoke with Dr. Muenzer about it every few months. Every spring we were told human clinical trials would begin in the fall. Every fall we were told it would begin in the winter. Every winter we were told it would begin in the spring. For three years. During that time, most of Trey’s peers fell outside of the IT trial criteria and therefore did not qualify.
So yes, gene therapy will hopefully come to fruition, but I will not let a drug that is holding my child stable and saving his life, go, with the hope for gene therapy. I don’t know gene therapy will come, and if it does come, I don’t know if Trey will qualify for the trial, and I don’t know if it will come in time to save Trey.
Trey has IT therapy. I am not giving that up until or unless there is another treatment that is available and works.
With love,
Deb

IT Idursulfase Trial Faces Setback

Please read:
https://endpts.com/shire-hit-by-a-setback-as-hunter-syndrome-drug-fails-late-stage-study/
https://www.shire.com/en/newsroom/2017/december/wvdwq3
I’m not going to say a lot right now as I’m still processing this news and I’m not sure how much I can/should/want to be posting on the big wide web. What I do know without a doubt is that this drug works and I will go to jail before I see this drug get taken away. Melissa Hogan has issued a Clinical Trial Alert that contains more information, please see below.
ClinicalTrialAlert-SHP609
If you have questions, don’t hesitate to reach out.
Love Deb

Construction Cares: an Interactive Activity Filled Event for Children and Adults of All Ages!

image1We have an exciting announcement! Earlier this year, the company who built our house, Naikoon Contracting, approached me to put on a fundraiser for our MPS II Research Fund. With the initiative of Joe Geluch, President of Naikoon Contracting, we are holding Construction Cares on April 22, 2018, an interactive activity filled event for children and adults of all ages!

There are opportunities for sponsorships, donations for gift baskets, and volunteering, so if you own or are part of a company or would like to be involved in a different way, please let me know.

Up until now, the vast majority of fundraisers have been in my hands, which holds with it a lot of stress and pressure. I remain blown away by the generosity of Joe and everyone who has joined us this early on in the event. I feel relief and that this is not all on me and gratitude that we can continue to raise necessary funds for research despite me not doing the lion’s share of the work.

Best of all for all of you, with the awesome ideas of our core committee, this event is going to be incredible, with fantastic food, treats and activities. Check out the attached poster, mark your calendars, and continue to check in with the Facebook page to get exciting updates!

Thank you for your support, year after year.

With love,

Deb, Ryan, Trey and the rest of our Purcell crew!

Run Results, Our Documentary, and a New Event to Come!!

Scotiabank 2017!It is big times for MPS II Hunter Syndrome!
Trey ran in his third Scotiabank 5K today, surrounded by close family and friends. I often go into these events making sure everyone has their bibs, run shirts, sunscreen applied, and making sure everyone knows where to be and at what time etc. But once at the run, with a moment to spare, as I looked around at the people who STILL show up, 11-years into diagnosis, that’s the part that caught my throat in my chest. Because as times passes, other causes and events naturally come into peoples lives, so when people STILL show up despite pancreatic cancer, skull fractures, moving, job upheaval, aging, etc etc etc, that’s what hits the most.
And on top of all that, we raised $13,891!! THANK YOU THANK YOU THANK YOU to all of our donors. YOU raised us $13,891, almost $4,000 more than our goal!!!!! If you haven’t yet donated, it’s not too late, you can donate here: https://www.gifttool.com/athon/MyFundraisingPage?ID=2012&AID=3532&PID=606221
Joey Howell is also in town completing our part of his story in his documentary “Boys with Bigger Hearts”, a doc he began in 2011 about MPS II Hunter Syndrome that he hopes to complete and submit to film festivals this year. You can see the trailer here: http://boyswithbiggerhearts.org/boyswithbiggerhearts.org/Boys_With_Bigger_Hearts.html
In other news, Naikoon Contracting, the folks who built our house have approached us to put on an event to help us raise the $2.5 Million we need to fund gene therapy. Which blows me away. For the same reason as above, people have their own lives and things going on. To not only give us their time (without me even asking them), but to sponsor our event as well, is just plain incredible. If you are interested in being involved in a regular, a few hours every week kind of a way, let me know.
And last but not least, the mini-documentary series created to raise gene therapy funds are coming out one by one! If you haven’t seen the first one, you can see it here: https://www.youtube.com/watch?v=lW_v4vGFJ8o&feature=youtu.be
The second mini-doc is here, meet Noah: https://www.youtube.com/watch?v=pRVCGvhV0L0
Number three, four and five will come out in the next weeks.
Thank you for reading, thank you for your love and thank you most, for your continued support.
Deb

 

Imagine Trey Free from Hunter Syndrome

One day oldI 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.Our future
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.Chi Town (13 of 30)
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.
225111_218544424840224_3014549_nWith 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.Ry's OUAC speech photo
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.Our new family of three, moments after Trey's birth

Rare Disease Day- February 28

Rare Disease Day 2017
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

Ryan & Trey Purcell

D-Day

Short but sweet. Y’all might love this given my usual essay style blogs. 😉
One day oldTrey 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.

West Van High!!

Trey & Avery- Aug 2016In 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.
Trey & Avery- Aug 2016I 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 13th 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. Scotiabank 2016
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!
Scotiabank Run 2015Since 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/ MPS-II Gala 2017
With love and endless gratitude for your support,
Deb, Ryan, Trey, Avery, Sadie and Raleigh

Gene Therapy: Donations and Dreams

wvhigh201617-copyweb-versionThe 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!!

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