MPSIIFund News

Hello everyone!

It has been a long time since my last update. This means good news. Trey continues to do well. There are little blips that come up in terms of concerns and worries, but nothing major. However, I know it is time to update when people start asking how Trey is doing and asking if we are still researching and if they can donate. So, here is an update of Trey’s and our MPS world since last December.

Regarding medical updates, there was again some concern regarding Trey’s spine and there is now yearly conversation regarding progression in this area. His spine has been compared to the Leaning Tower of Pisa. There are two areas, one in his cervical spine and one in his lumbar spine, of concern. Alone, neither is very severe; however together, they are quite dangerous. As long as they are stable, Trey is okay. If either progresses, it becomes urgent very quickly. Right now, we see Trey’s orthopaedic surgeon every six months. Trey saw orthopaedics in August, so for 6 months, Trey has been given the green light.

Trey had some minor concerns regarding his ears. He had an ear infection and a skin infection that went fairly deep (a black head that finally came out after more than 5 years – the effect of hearing aids) and got worse with his hearing aids (covering a sore so that Trey can hear didn’t work so well). It is mostly healed now, but we still have to keep a close eye on it.

This next topic is sensitive and I contemplated not writing about it because I do not want to be judged for it. However, I speak in honor of me making the best possible decision I could in the context of our family, and in solidarity with all parents who have made this incredibly difficult decision.

Last August when we moved home from Los Angeles, it became very clear our household was not managing with the degree of care in it. Trey requires one-to-one support. Without it, he and his siblings are not safe, and with it, his siblings are neglected completely. Trey adores his younger sisters and the only way he knows to engage with them is by bugging them. Bugging them looks like hitting them on the head or smacking their bums, almost constantly. As they have gotten older and learned to retaliate, it became unsafe and exhausting for me on multiple levels. Trey’s teacher, who sees Trey as I see him and whom I adore (she talks about him with the love of a mother and will call me on the weekend when she sees a toothbrush she thinks would be great for Trey due to his ROM limitations, for example), said I should get on finding Trey care ASAP.

It is a long long story that involved Monday to Friday advocacy (about 20 hours per week) from me over seven-months, but due to Trey aging out of the Ministry for Children and Family Development and aging into the adult world, if I did not get Trey into care before he became an adult, I was told by multiple sources (parents, doctors, government folks, and advocacy groups to name a few) that it would be decades before I could get him into care, and I may pass before it became a reality. After a lot of fire breathing, Trey moved into care in March. The manager of the house Trey lives in has been wonderful and I had much support moving through this process. Trey moving out has been both relieving and stressful.

Moving from brushing and flossing Trey’s teeth twice a day since he was a baby, showering him, and looking after all daily his needs to not doing it over night, was a shock. It has left significant amounts of time for my other children, which has been incredible. I don’t feel like I really got to know Raleigh and Cora until Trey moved out (there is other context involved as well). I have also been able to slow and calm down. I didn’t know what it was like to walk kids to school without running to Trey and back to other kids, wondering where one kid disappeared to because I can’t be in two places at once, and constantly yelling because I can’t be in two places at once. Mornings and walking to school can be stress free- I had NO idea. It also means that Trey can try C-Pap again because he has night care at his home, which after 9-months of me trying, I had to give up on because I could not give more than two-hours per night to the effort.

On the other hand, I miss Trey like crazy, I feel guilt, and balls that would not have been dropped had I been looking after him, have been dropped. I have been angry and scared at what will happen to Trey if I die because I still see him regularly and notice things that are going on for him, both physically and emotionally, that others do not, simply because they are not his mom.

Trey also graduated in June. Any child with a progressive disease who graduates is a big deal. I ping ponged between: it was a very real possibility that Trey would not have lived to graduate so us even getting to this stage is the most beautiful and incredible and magical experience EVER, to: most of the grads were there with dates and moving on to work, travel or school. Then back to: Trey was at his convocation and dinner with friends who adore him and one girl who might be in love with him. Back to: Trey is going into a day program- will he be fulfilled?

Trey began a day program after school completed and he seems to be enjoying it. He also really likes the men he lives with. He has constant company and engagement with people who like him, support him, and want to spend time with him. Trey’s Special Olympics activities have begun again for the year and when I picked him up for swimming this morning, two of the men came to say hello to me and goodbye to him. Trey has people, which makes my heart full.

This has been long, so I think I will stop here. I will end by mentioning that we ARE still fundraising and funding research. We currently have enough money raised to fund another grant and the MPS II Fund board is in conversation regarding that. We are also talking about in person fundraising events over the next year. If you would like to donate to MPS II research, go to https://www.theisaacfoundation.com/, click on “Donate Now” and choose the MPS II option from the drop down menu.

With love and gratitude if you made it through this long message and for your continued support.
Deb

Dear MPS II Fund supporters,

It has been 6-months since I posted an update on Trey’s website and longer since I sent out an email. I apologize for my silence. So much has happened in the last year. Our family spent a year in Los Angeles so I could pursue my dream of training as a Narrative Therapist. We are back in Vancouver now, but while away, MPS II was present. The intrathecal trial Trey has been in since 2011 came to an end. Trey is still receiving drug, but this news… well, I cannot even find words right now, but I did write a blog post about it, that you can read here: https://mpsii.theisaacfoundation.com/2022/06/05/intrathecal-trial-tak-609-update/

Also while in LA, our dear and beautiful friend, Jack Fowler, passed away. I still struggle to find words about Jack’s passing, but I wrote a blog about Jack here: https://mpsii.theisaacfoundation.com/2022/06/10/jack-teagan-fowler/

In the direction of hope, we funded a $65,000 research grant to Dr. Laura Rigon entitled “A drug screening to find new therapies for MPS II.” If you would like more information, you can read my blog here: https://mpsii.theisaacfoundation.com/2022/06/15/mps-ii-research-grant-provided-to-dr-laura-rigon/

With so much reading in the above blog posts, I will not add too much more here, but I will give an update on Trey. Trey is in his final year at West Vancouver Secondary School. His school is magic. His head teacher, Heidi, texts me on weekends with new toothbrush options or if she can buy cookie moulds in the shape of dog biscuits to make cookies for Trey’s service dog, Griffin. She organized a party, that even the principal came to, on Griffin’s 12th birthday because Trey loves Griffin so much. She also calls me to get updates on his transition to adulthood and is constantly brainstorming with me to think about things Trey would love to do and how we can make his life better.

Regarding Trey’s health, he is doing well. There was some concern that Trey may need surgery on his spine, but after multiple referrals and opinions, it appears Trey will not need surgery at this point. Trey also saw cardiology and his heart is doing well. Respirology and ophthalmology are upcoming in the new year.

In very sad news, Trey’s ENT, Dr. Paul Moxham, who we have known since Trey was one-year old, has a brain tumor. I do not want to share too much at this point as I do not feel ready to share and I do not know how much his family wants shared, but I have been to visit him a number of times and it has been wonderful to get to know him and his family in deeper ways. Paul is one of the most incredible human beings I have met. He has donated to this fund, ran the 5K at our charitable runs, and spoken at our gala. I love him and his family dearly and am reminded, like with MPS, to find the beauty in life, as we never know how much time we have.

With that said, holidays can be brutal and beautiful. Wherever you sit on that spectrum in general or at this moment, please know you are not alone. Reach out if you need love and support. I am always here.

And lastly, due to my silence, I have received messages asking if we are still fundraising, and the answer is yes! Until all of our boys and men have treatment, we fundraise. We know every donation could be put elsewhere and we take all donations seriously. If you would like to donate, you can do so here: https://mpsii.theisaacfoundation.com/#section-donate-now

With all my love,
Deb, Trey and our whole family

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.

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

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.

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.)

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.

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