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MPSIIFund News

An Overdue Update

Hello MPS II Fund and Trey supporters,

This update is long overdue and for that, I apologize. I have been thinking about posting an update for a while and have been in talks with folks about fundraisers and events, but this pandemic has made updates tricky as I either haven’t had enough information to share or the information I have had to share was subject to so much change, I didn’t know when and what I could share that was reliable! At first, I was planning to update you about this year’s Construction Cares event which was scheduled for June 2020, but it was cancelled.

I was also planning to tell you about a screening for a documentary our family is in called Boys with Bigger Hearts that was slated to show in Vancouver in May and then June 2020, but it continued to get rescheduled due to COVID-19. We had eventually hoped for a September screening, but it appears that option is off the table now as well. I hope one day to be able to show this documentary to you all because the families in the doc are my family. Simon Ibell and his family became mentors and close friends after Trey’s diagnosis. Joey Howell, the director of the doc, whose cousins live with MPS II and who found me on social media while I was spreading awareness for a gala fundraiser we put on in 2011, has become a very close friend, and Jamie Fowler- Jack Fowler’s mom- is my soul mate. Said simply, this doc is close to my heart and I would love to share it in person, with our community. As soon as we can do that, I will send the word out.

A couple months ago my 95-year old grandma, Omi, who is one of Trey’s biggest supporters, came over for our 7:00pm pots and pans banging in appreciation of our front-line workers, and kindly suggested I wasn’t doing enough for Trey to raise funds this year. She told me a number of her friends had contacted her asking what we are doing for Trey this year and let me know I was missing donations by not doing anything. So here I am. Thank you Omi. JWith Construction Cares and the Boys with Bigger Hearts screening cancelled, and with not being able to do a Scotiabank run either, we won’t be hosting any fundraising events this year. We will, however, accept and put to good use, any donations that you would like to make. To make a donation, please click this link: http://www.theisaacfoundation.com/MPSII/#section-donate-now.

It’s an interesting and exciting time in the research world. There are a wealth of projects and researchers to fund and much of what we have funded is close to human clinical trials. So, I can promise that your donation will be used well and that your funds are saving boys and now, men’s lives- historically, most boys with MPS II didn’t reach adulthood, but thanks to donors like you, kids like Trey are becoming men. If you click the link to the grants we’ve funded, both Doug McCarty and Brian Bigger’s research will be in human trials within the next year: http://www.theisaacfoundation.com/MPSII/mps-ii-grants/.

In news on Trey, he is doing well. At 16-years old!! He loves reading Archie books and graphic novels, he loves playing basketball, tennis, and riding his bike; he loves his family, his friends, school, and his neighbours. After a four-year break from doing infusions myself, due to the risk of bringing front-line workers into our home to do infusions during the pandemic, I opted to go back to doing the home infusions myself. I had originally stopped doing infusions when I became “the person who pokes Trey in the chest” instead of mom to Trey, which was damaging our relationship. Going back to doing infusions myself, I was very mindful of this potential dynamic and things seem to be working out right now. The actual doing of infusions is going well enough for me, and I think Trey’s and my relationship is doing well also. I just have to make sure to give Trey extra hugs and love and positive reinforcement and attention before and after infusions. Who are we kidding: hugs, love, positive reinforcement, and attention helps all the time! 😉

Trey is still receiving intrathecal ERT and there is no news on approval of the drug. Trey is not, however, able to travel to UNC for his every 6-month testing trips due to the pandemic. Fortunately though, Trey can get his doses and necessary tests done at BC Children’s Hospital in Vancouver.

Due to the effects of MPS II on his body, Trey is likely at an increased risk for having a severe form of COVID-19 during this pandemic, so we are needing to be quite cautious in terms of what we do and who we see. And while Ryan hasn’t worked in 5-months, the time spent with our entire family together and its effects, have been immeasurable. I won’t get into too many details, but a lot of repair has been done with this time, and for that, I will be forever grateful.

I am sending love out to you all, in all of your circumstances and situations during this pandemic.

With very much love,

Deb

(These are a few photos of Trey from the past couple months.)

Trucking Along- An Update on Trey!

It’s been ages since I last updated on Trey. Fortunately, this is because there’s little to update, at least in the world of Trey combined with MPS II. I read back through my blogs- the last Trey update I gave was in April 2018!

Trey has been receiving IV Elaprase since February 2006 and IT Elaprase since October 2011. We have been waiting for two years to receive news about the approval of IT Elaprase, but there are no answers yet. This is a very loaded question/topic/conversation. While we wait, Trey and our family are good. Trey is receiving drug and has a great quality of life. While we wait, other families who are waiting for drug are not doing so well. Some boys have passed, others have progressed to a stage of disease where the drug is unlikely to help. I remember being on the waiting end of things before IV Elaprase was approved. Trey was diagnosed with MPS II in February 2006 and the drug wasn’t approved by the FDA until July 2006. That was only a 5-month wait and it was hell. Every day you wait while you know irreparable damage is being done to your child; a baby you birthed and love and have huge hopes and dreams for is getting brain damaged and losing hearing and experiencing progressive heart disease and joint contractures while you gaze into their beautiful eyes. I used to stare at Trey, after diagnosis and pre-IV Elaprase, and wonder exactly what damage was being done RIGHT NOW. Every day you are angry. Every day you are sad. Every day you are scared. Every day you are in trauma. Every day is HARD.

Once we have an answer about the IT trial, things for us will either be good for us, and things will truck along like they have been ever since Trey got IT drug, or they will be very very bad. It’s like this: IT drug= trucking along. No IT drug=progression and death. IT drug= being different from others in that Trey has special needs, but being stable so that we know what to expect and can get on with living our lives with Trey as a part of our family, instead of a child who requires so much physical care that the other members of the family get neglected (including ourselves), and so much emotional work to figure out how to be remotely sane while watching your child lose skills and abilities, it often leads to exhaustion and insanity. When I first heard we would receive news “soon” about IT approval- two years ago- I operated with some degree of panic. I feel the panic rising while I write this. However, I have gotten used to waiting, so when it’s not actively on my mind, I’m able to get busy living.

In April 2018 I wrote about Trey’s obstructive sleep apnea (OSA) and limp. After trying for about 8-months to get Trey to wear a C-Pap machine progressively longer each night, I gave up. If at some point I get the energy back up to try again, I will. It’s the only treatment for OSA, so I felt like a horrible mother for giving up, but I just couldn’t do it anymore. I tried so hard, I was so exhausted, I was doing it on my own 7-nights/week, and I just didn’t see how Trey could get from where he was (tolerating it while lying in bed for up to 20-minutes in the dark, followed by a reward of watching movies while wearing it for progressively less time each night) to where he needed to be (sleeping with it all night- he didn’t even sleep with it once). It didn’t help that research shows boys with developmental disabilities are the hardest population to get to wear a C-Pap machine. Unfortunately, OSA can cause heart issues if it’s bad enough (it’s not in Trey yet) and daytime exhaustion, which would impact Trey’s quality of life, which both suck. L

I also wrote in April 2018 about Trey’s limp. It’s still a mystery. Trey’s had multiple x-rays, MRI’s, orthopaedic appointments, hip specialist appointments, all to no avail. He still limps periodically, and for that reason we don’t really take him to basketball anymore. Aside from basketball, he still gets to do everything he likes to do. Speaking of which, he’s in all sorts of activities. At school, Trey lifts weights, is in swimming lessons, does recycling and shopping for the school and is doing work experience at Maplewood Farm. After school Trey has his weekly infusion, dinner club where a group of teens go shopping for, prepare, eat, work on social skills, and clean up from a meal, with support. He also goes to forest club where they learn about the forest and survival skills! On Saturday’s Trey goes to Teen Club where he hangs out with friends from different high schools and they do all sorts of activities and go on all sorts of trips. Trey has a busy life and he LOVES it!

That’s about it in Trey’s world! Except that… HE TURNS 16 IN MARCH 2020. I can’t quite believe this yet.

I know the holidays can be emotionally loaded for many of us. For those of us who have kids with progressive and rare diseases, the holidays can become even more loaded. My hope this holiday is that you can find at least a few moments of peace and beauty; where you can feel the brilliance of fresh air or good food or good company (even if there are people missing) or a sound or sight or memory that lights you up. Moments… I now aim for great moments… great days or weeks or years set the bar too high I now believe. Great moments seem achievable. 😉

Love Deb

PS. The two pictures are of me and my boys, Trey and Avery, and our five kids (in age order): Trey, Avery, Sadie, Raleigh and Cora.

2nd Annual Construction Cares a Wrap!

That’s a wrap! Our second Construction Cares Event was a HUGE success thanks to all of you wonderful people who attended our event and showed their support, as well as all of you who donated from afar. Construction really does care!! We raised $41,700 for the MPS II Research Fund at The Isaac Foundation this year and we couldn’t be happier with how this whole day went!
BIG thank you to all the volunteers, sponsors, donors, partners and vendors who have made our second annual Construction Cares event the great success it was!


If you’d still like to donate, you can do so at: www.treypurcell.com. You can read more about the research we’ve funded here: http://www.theisaacfoundation.com/MPSII/mps-ii-grants/


AND, in more great news, there will be a 3rd Construction Cares in 2020, so if you’d like to be involved in any kind of volunteer, donor, partner or sponsorship role, you can let me know or keep checking in on Trey’s website: www.treypurcell.com or the MPS II Research Fund on Facebook!

We truly cannot thank you enough.
Love,

The Purcell’s

Construction Cares 1 month away!

Save the date! 09-06-2019

We hope you can make it out to Construction Cares on Sunday, June 9. It’s just over a month away! It’s going to be a super fun event for a great cause and we’d love to see you there.

If you can’t make the event, but would like to donate to fund our MPS II research, you can do so here. We are grateful for every donation and make sure to do right by all of our donors.

For more information about Construction Cares, click here.

Construction Cares approaching!

Save the date! 06-09-2019

Construction Cares is a fun-filled indoor fair for adults and children of all ages on Sunday, June 9th from 11am to 4pm at The Pipe Shop in North Vancouver.
115 Victory Ship Way, North Vancouver, BC V7L 0B2

Event is rain or shine and offers bike valet by donation; wide variety of games, activities, interactive displays, live auctions; food vendors; emcee Kevin Evans and Tall Music DJ on site; and more!

Admission is free and activity tickets can be purchased to participate in your favourite games and activities including a kid’s construction & decorating station; Top Shot Hockey game; face painting; LifeSpace Gardens Veggie Mobile, GardenWorks gardening station; balloon twisting; Axewood Axe Throwing; caricature artist; Beere Brewing beer tasting; roaming characters including Elsa, Olaf and Spiderman; a visit from the Vancouver Canadians’ Bob Brown Bear, free colouring and block building station for kids, SPCA table; live auctions and 50-50 draws hourly at 12pm, 1pm, 2pm, 3pm and 4pm. 

Net proceeds benefit the MPS II Research Fund at The Isaac Foundation (Canada).

For volunteer information, please contact Louise LaRochelle at lulusings@me.com 
For sponsorship or live auction donation information please contact Presenting Sponsor Joe Geluch at joe@naikoon.ca or Pamela Buck, Event Organizer at pbuck@eventfulinnovations.com 

Facebook:  https://www.facebook.com/ConstructionCares/

Instagram:  https://www.instagram.com/constructioncares/

https://www.naikooncontracting.com/construction-cares-event/

$150,000 Awarded to Dr. Brian Bigger for MPS II Gene Therapy Research!

Our MPS II Research Fund and the entire Isaac Foundation is always on the lookout for hopeful research and researchers in MPS II. Dr. Brian Bigger’s work is just that. We are THRILLED to announce that we just granted $150,000 to Bigger’s Lab in the UK and we are hopeful that this will lead to anther gene therapy option for boys and men with MPS II. Please read below for details of Biggers’ work:

“The Bigger lab have developed several gene therapies for neurodegenerative lysosomal storage diseases including most recently Mucopolysaccharidosis (MPS) II (Hunter), MPSIIIA, MPSIIIB and MPSIIIC. Most patients have no treatments, and where treatments do exist, they are ineffectual in the brain.  Delivery of replacement enzyme via haematopoietic stem cell gene therapy (HSCGT) using a lentiviral vector can effectively target the brain, correcting disease.

We recently developed a stem cell gene therapy that can target the brain in Hunter disease, via a lentiviral vector expressing a blood brain barrier crossing peptide coupled to the IDS gene (LV-IDS-APOEII). We have successfully performed a proof-of-concept study in MPSII mice demonstrating correction of disease (Gleitz 2018 Embo Mol Med) and superiority of the LV-IDS-APOEII vector over the normal enzyme.

We obtained funding for an InnovateUK Manchester Advanced Therapies Centre Hub (iMATCH), a consortium of academic and industry partners with a co-ordinated strategy to scale up gene therapies for patients in Manchester. Our remit on iMATCH is to develop scaled up GMP transduction of haematopoietic stem cells, but vector production was excluded from the call.

The grant from the Isaac foundation will allow us to purchase GLP grade IDS-APOEII (Hunter disease genome) plasmid from plasmid factory to enable production of a large-scale GMP-like lentiviral vector for Hunter disease, which would both validate our large-scale transduction procedure in CD34+ cells for iMATCH and provide data for a potential filing for phase I/II clinical trial.”

 If you have questions, please reach don’t hesitate to contact us!

Construction Cares was a HUGE Success!

Construction Cares, an indoor fair for adults & children of all ages with net proceeds going to the MPS II Research Fund, happened this past weekend and it was incredible! These events never fail to touch our hearts and souls at the deepest level.
When Joe Geluch, President of Naikoon Contracting (the company that built our house), approached me last summer after getting to know our family through the build of our house, to put on a fundraiser for our MPS II Research Fund, I thought it was a kind gesture, but never did I have any idea that it would be brought to fruition. Fruition was Sunday, April 22, 2018.
$24,000 was raised for our Fund. For research. For our boys with MPS II. I don’t give as many updates on Trey as I did when he was first diagnosed, and although Trey is mostly stable due to the IV & IT treatments he receives, our life is still far from typical. It’s hard to describe, to a large group of people, what our life is like unless you see us regularly. What do you focus on? What and how much do you say? Trey’s progression due to the build up of GAGs as a result of MPS II is minimal to none after he began receiving Intrathecal ERT over seven years ago, but he still has MPS.
This past year, two issues have arisen for Trey that at times have gotten me pretty down:
One, we found out Trey has Obstructive Sleep Apnea (OSA). There’s no surgical treatment, no cure and since November 2017, we’ve been working with his Behaviour Analyst to get him to wear a C-Pap machine at night. Due to his OSA, Trey is tired most days and now due to our routine trying to get him to wear a C-Pap machine at night, misses most of his night time activities like floor hockey, bowling and softball, which he loves. If he doesn’t learn to tolerate the C-Pap machine, that could lead to heart issues due to lack of oxygen when he obstructs.
The second, which has a longer history than a year but we thought was resolved, is a severe limp with no known cause, other than MPS (he has hip dysplasia as a result of MPS). It was awful to the point of Trey not being able to walk for weeks at a time last summer, but somehow resolved on its own. Then a week ago, it came back with full-strength after the one activity he still participates in because it’s early enough to get him home for his C-Pap routine, soccer. He could barely walk (I contemplated a wheelchair because I don’t think he could use crutches) from Monday night until Thursday morning and then was fine. Sunday night after Construction Cares, the limp was back. Avery and Sadie helped carry him back to the couch when he’d try to get up. It is so hard to see. We now might have to take him out of soccer. His life is already limited by MPS cognitively, with multiple trips to hospitals here and in North Carolina, and with weekly infusions, it gets me down to see his quality of life (which I think is pretty good, he might just be the happiest member of our family) further impacted by MPS.
I say all this with the hopes of you understanding just how much it means to our family that you showed up yesterday, in whatever form that was. MPS can be sad and hard and lonely and it is you who lifts us up when we are down. Even to those of you who couldn’t make it but sent a text, that matters. You remembering matters. You asking how we’re doing despite us being twelve years into this journey, matters. To all who came and donated and volunteered and sponsored and attended as guests, you honestly fill our hearts. You make it so we can pick ourselves up and say “We’ve got this. We can do it. We are surrounded.” Ryan and I left Construction Cares last night knowing we’d never be able to fully express how thankful we are. We didn’t get to thank each of you and even if we did, it wouldn’t be enough. I hope my words can in some small way help you know what it means to us that you came.
Thank you to everyone from Naikoon who volunteered. It was SO cool and overwhelming to walk into The Pipe Shop and see all these people we know, all these people who began conversations with us years ago about building a sustainable and durable house for our family, to the people who actually built our house and know the guts of our house better than we do, to the people who emailed and organized and showed up for the build of our house when we had questions, and to the people from Naikoon we didn’t know until this fundraising began! We are so touched by how involved you all were. It took a team. Thank you.
And an extra special thanks goes out to Madeleine Funk, Tyler Waddell, Pamela Buck and Joe Geluch. Gosh, when I think about how stressed and anxious and insanely driven I was putting on other events, and then I think of what you all did for me, for us yesterday, I am forever grateful. Joe, we will never EVER forget what you have done for us.
We will share more pictures from the event in the coming weeks, and here is a link to a CBC video, our clip starts at 10:34: http://www.cbc.ca/player/play/1216906307541.
With love,
The Purcell’s

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.

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We want to hear from you! Send us your story so we can share it with the world. Every person and family battling Hunter Syndrome has a unique story to tell - one of bravery, resilience, and perseverance. We'll share all stories online here and on our social media feeds!