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MPSIIFund News

MPS II Research Grant Provided to Dr. Laura Rigon!

There has been a LOT going on in our MPS II world as of late, funding an MPS II research grant being one of the lot! Funding research provides hope, excitement, and the possibility that perhaps our sons with MPS II (including the yet to be diagnosed sons), might have a different path. We need hope like we need air. To our donors who made this research, this hope, our ability to breathe a little easier possible, THANK YOU.

This spring we funded $65,000CAD to Dr. Laura Rigon of Italy. Below is some more information. If you have questions, please don’t hesitate to ask! Our board sure had questions and fortunately, we were able to ask our medical advisory board of doctors, as well as Dr. Rigon, for their thoughts.

Title: A drug screening to find new therapies for MPS II

Summary:

Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by the deficit of the iduronate 2-sulfatase enzyme, leading to storage of glycosaminoglycans in all organs and tissues. In addition to the important systemic clinical features, MPS II is characterized by a heavy neurological involvement in the severe form. Great strides have been made in the treatment of MPS II over the past 20 years with the development of enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy. However, they still have several limitations, mainly in the treatment of neurological involvement, which is present in about 2/3 of patients. Therefore, to find therapies able of treating the central nervous system (CNS) pathology remains a major goal.

The main objective of this project is to find drugs able to cross the blood-brain barrier and to cure the neurological involvement in this disease. For this purpose, we will perform a drug screening of a CNS- penetrant compound library by using human iPSC-derived neuronal stem cells. This will allow to evaluate the efficacy of 516 molecules on neurological cells, thus having a greater reliability on the possible efficacy in vivo. Based on the literature, we expect to find 6 potential therapeutic molecules. These compounds will then be tested in vivo in a MPS II fruit fly (Drosophila melanogaster) model to confirm their efficacy in a more complex system. This approach will pave the way for new treatments for neurological pathology in MPS II. Moreover, if already approved by the FDA they could be used in drug repurposing and be directly evaluated in clinical trials in patients, significantly reducing the time for a new therapy.

Jack Teagan Fowler

Jack Teagan Fowler passed away in the morning on Monday, March 28, 2022. When I woke that day to a text from Jack’s care provider, Maria, that Jack had passed, I was in complete disbelief, until I called Jamie. The world had ended.

I flew to Denver that day and stayed with Jamie and her family for the next two weeks. I have struggled with what to write in this post. I could write about my experience of Jack’s passing; of trying as best I can to support a close and dear friend from from the other side, actually having no idea what she is going through and often fumbling; or of being a mom to a young man with MPS II, watching Jamie and her family closely because this will one day be me. Because this is a public forum, however, and Jamie or Jason or Jules or Jack’s grandparents or cousins could read this one day, it is not appropriate for me to write about these things because in reality, as hard as this is for me, I cannot even comprehend or begin to understand how excruciating this is for them. (Note: This is a VERY useful theory with anyone we are supporting in grief: https://www.psychologytoday.com/us/blog/promoting-hope-preventing-suicide/201705/ring-theory-helps-us-bring-comfort-in).

Instead, I will share that meeting Jack Teagan Fowler was a gift. I am a more expanded, understanding, whole-hearted, and loving person because of him.

I’ll never forget flying to Naperville to spend time with Jamie and her family and sitting outside their house on the grass where rabbits hopped around, having Jack tackle and wrestle me to the ground. For what felt like hours. He kicked my ass. Repeatedly. He was a solid dude who was so happy and full of so much laughter, that even though he had way more energy and strength than I did, I did not want to stop.

I remember when Jack got a new wheelchair and Jamie sent me pictures. I showed Trey, who fell in LOVE with Jack’s shiny blue wheelchair and kept asking, day after day, how much Jack loved it- Trey was over the moon about it.

I remember visiting Jack this past December, bummed out because COVID was rampant, so I had to mask up and couldn’t snuggle with Jack, but so grateful I got to sit and be with and talk to him. I did get to wash up and feed him a bit of breakfast though, which I will never forget.

I remember our whole family going to visit and spend time with the Fowler’s a number of years ago, and how special it was and how grateful I am that our kids got to meet and spend time with Jack.

Mostly though, because our relationship has mostly lived from a distance, I remember Jack talking on Voxer, the app through which Jamie and I, and our dragon moms, communicate. I laugh writing this, because any time someone would cut Jamie off while driving or anytime Jamie had something juicy or full of passion to say, Jack would ALWAYS jump in with a ‘YEAH!,’ emphasizing what Jamie said. It cracked me up.

Your Jack stories… please share them. Even if you only heard them second hand, share them. Send Jamie a message telling her your Jack story. Tell Jamie and Jack’s family how Jack impacted you. Today, tomorrow, a year from now, ten years from now. I am not on the other side yet, but I have learned, and I can imagine and feel, that family wants to talk about their person. They have not forgotten and they need and want to know you have not too. People live on because of the stories we tell. Keep telling Jack’s stories.

Jack Teagan Fowler, you are deeply missed. I love you.

Intrathecal Trial (TAK-609) Update

My goodness. Over one and a half years since my last post. So much has happened in that time, for all of us I imagine. I have a few things to update on, which I will soon, but for now, I want to get this news out to our community. I am guessing many of you have already received this information, but it took me some time to process, before posting publicly.

It is with a heavy heart that I share the news that the intrathecal clinical trial Trey has been participating in since 2011, TAK-609, is ending.

This news is scary and overwhelming. I feel my dragon scales and fire breathing coming back (if you don’t know of my dragon reference, here is a blog post about it: https://www.nytimes.com/2011/10/16/opinion/sunday/notes-from-a-dragon-mom.html) after having had an over 10-year respite due to the life-saving and stabilizing effects of this exact trial. It is a heavy load to carry the weight of my son’s life in my hands.

While I prepare to again breathe fire and save my son’s life, I recognize that this time, although debilitating and hard, is not nearly as debilitating or hard as my first fight, which began upon diagnosis in 2006, and ended when Trey got into TAK-609 in 2011.

Why? Because Trey is still and will continue to receive TAK-609 until another treatment is approved. How? Takeda. I cannot even fathom the amount of money that has gone into giving Trey this treatment for almost 11-years. Monthly flights, hotel, drug development costs, hospital and doctor costs (to name only a few) for Trey, and the approximately 50 other boys in the trial too. With no reimbursement at the end of it.

Yes, they’re a pharmaceutical company. Yes, they make lots of money. But they’re now losing money on our boys and they still said yes. When they could have said no. Many would have and do say no.

It is HARD writing this post. Since I found out TAK-609 would no longer be developed for approval, I went into fight or flight (which for me when it comes to Trey’s life, I go into fight mode). I don’t have room for emotions or feelings. I need to focus. On saving my son’s life. So, sitting in the reality of the impact of Takeda’s choice on Trey and ALL the boys and men in the trial is BIG. Beyond big.

If Takeda had said no to continuing to supply TAK-609, Trey would begin declining again. Within weeks. Daily, I would be waiting and watching to see what skill he lost next. My mind would become consumed with this, unable to enjoy even the smallest of moments. I have been there and I have walked this path with friends. Trey losing the ability to eat burgers and sushi (his favorite foods) and run and say mom. And breathe. I would be drowning in fear. My fire breathing as a result, would be ten-fold what it is now. The feelings related to this are actually indescribable, so this description is an understatement.

Takeda’s decision to continue granting TAK-609 to our boys – there is no way I could effectively express or return my gratitude. It is impossible. Takeda has made a choice to keep my son, and dozens of other son’s, stable. To keep him alive. How could words or actions even begin to show appreciation for the life of my son? Yet words and actions are all I have. So here I am.

Takeda. From the depths of my heart and soul and body and fire-breathing dragon mom self, thank you for the decision you have made to keep our boys and men stable and alive until we can find another treatment that will do the same.

In solidarity and with immense gratitude,

Deb Cehak
www.treypurcell.com

Attached is a copy of the letter sent to patient organizations – TAK609_PatientAdvocacyLetter_05.25.22_CANADA

YOU Did it!

Hello MPS II Fund and Trey supporters,
 
YOU did it!!!!!

I’ve said so many times that your donations and support will save boys’ lives, I wanted to share this with you. It’s for real! Read here for more information:

https://www.biospace.com/article/releases/avrobio-expands-lentiviral-gene-therapy-pipeline-with-program-for-hunter-syndrome/?fbclid=IwAR38gjxRLRkcWRXzOzfJk36s_uTpD2GaqUK7Ffy9PqkpCmdwVgiEOjWYnbg

Our fundraising and YOUR support in all the multitude of ways has landed in a gene therapy for MPS II slated to start in 2021. This project began from the MPSII Fund, which in turn raised these funds with your support. This wouldn’t be happening without The MPSII Fund. It wouldn’t be happening without you.   

THANK YOU. With all our love,
Deb, Ryan, Trey and ALL of our family

PS – This is Andrew McFadyen hijacking the email quickly to recognize Deb Purcell, Kristin Higginson, Courtney Redmond, JF Aublet, and Edith Lecroix – the team tirelessly heading the MPSII Fund.  They, along with you all, have helped change the world today – something most people only talk about.  Be proud of the difference you’ve made – it matters for each and every person battling MPSII across the globe.

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: https://mpsii.theisaacfoundation.com/#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: https://mpsii.theisaacfoundation.com/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: https://mpsii.theisaacfoundation.com/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/

CONTACT US AND SHARE YOUR STORY!

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!