MPSIIFund News

I read this quote and it’s fitting: “Adversity is like a strong wind. It tears away from us all but the things that cannot be torn, so that we see ourselves as we really are.” Arthur Golden
Our life is raw, bare, real. When the wind- our child’s diagnosis- is in the midst of tearing us apart, all we see is heartache, sorrow, fear. But there are moments of beauty in this wind torn life, and because we’ve been through as much as we have, those moments fill us to the brim.
One of Trey’s babysitters who we met when we moved onto our street five years ago, is now applying to University and he wrote a piece on Trey. I wanted to share it with you. Because we all need moments of beauty:

Trey and MPS II

I was first introduced to MPS II when I met our new neighbours 5 years ago. The oldest son, Trey, was diagnosed with the life-altering disease before he was 2. MPS II affects hearing, lung capacity, mobility, bone structure, and cognitive abilities; essentially, it leaves nothing untouched, and significantly shortens life expectancy. Right away I was contacted by the mother about babysitting her 3, 5, and 7 year old children, and I accepted without hesitation. I saw immediately how uniquely Trey looks at life: his positive outlook, his ability to always be smiling, his fascination with every person he meets. People often take life’s simplicities for granted, which is something Trey helped me realize. He opened my eyes to what is really important in life, simply by living his. I have been babysitting them for almost 5 years, and it has taught me more than I ever could have imagined. The task of caring for 3 children under 10, with one requiring special needs, was a challenge in itself, but a challenge I overcame and grew to enjoy. Watching Trey grow, fighting through challenges no one should face, has matured me immensely, and positively altered my view on life forever.
Thank you Roan for showing me how Trey has changed you, for seeing his gifts and not his disability, and thank you Trey, for changing the world.
This is Roan. Roan, I wish you all the best as you enter this new journey in life!!

While we were at Disney World on Trey’s Make-a-Wish trip, we missed The Isaac Foundation Gala on November 15. It is a really important event for us and we were sad to miss it. Andy and Ellen McFadyen are family, they’ve been with us on this MPS journey since we began, and going to their gala is like going home to say hello. The Higginson/Redmond’s joined our MPS II Fund and Isaac Foundation family last year and their family has become near and dear to my heart. Courtney Redmond, sister to Kristin Higginson and aunt to Jack Higginson who lives with MPS II, spoke at the gala. She emailed me her speech and I wanted to share it with you. Courtney, thank you for EVERYTHING that you do for our fund, for your sister, for your nephew. You are amazing and beautiful in so so many ways and I am fortunate to know you. Here it is.
The Isaac Foundation – 5^th Annual Gala for a Cure
I am so honoured to be able to speak tonight on behalf of my nephew Jack and the MPS II Research Fund.
I guess in life we are constantly challenged.  We face adversity that will make us, or break us.  In July of 2013, our family faced our biggest challenge yet.  Jack was diagnosed with MPS II, Hunter Syndrome.
That day, I sat in a small meeting room at Sick Kids Hospital with my sister Kristin, her husband Ben, my mom and Ben’s mom.  I wish I could say it was all a blur, but it wasn’t.  I remember how Dr. Raiman’s 3 small words changed our lives forever.  “I’m so sorry”.
In the moments that followed Jack’s diagnosis, our human instincts kicked in and we were faced with one of those make or break type moments.  Well, we chose to fight.  We chose hope.  We chose Jack.
I spent countless hours online researching MPS II treatments, other MPS II families and even dietary considerations. By now I’m pretty sure that I have earned my honorary Google PHD!  When researching, I quickly came across a little boy by the name of Trey Purcell.  Trey has MPS II and is cognitively affected by the disease.  I remember reading a blog his mom Deb had started.  Our family immediately connected with this information – not just the medical, but the emotional part.  We reached out to Deb and her husband Ryan.  Deb understood what we were going through and offered her support to us around the clock. She is now one of our biggest supporters and we are hers.
Deb and Ryan Purcell founded the MPS II Research Fund following the diagnosis of their son Trey.  With a severe lack of MPS II research fundraising in Canada, Deb and Ryan knew they had to take matters into their own hands.   And that’s exactly what they did. Deb told me just the other day, that because this is so incredibly personal, Ryan and I put our heart and soul into our projects to raise as much money as we can.  The more we raise, the sooner our boys will have a cure. Every donation, every dollar matters.
One day when Deb and I were chatting, she asked me if the town of Campbellford was by any chance close to Peterborough. Because if so, there was someone we absolutely had to meet. His name is Andy and he will help Jack.
I immediately Googled: “Andrew McFadyen”, yet another time where my Google PHD has come in handy…  I think that when we finally met, Andy was somewhat weary by my knowledge of him, but nonetheless, he embraced our family and embraced our family and has literally never stopped doing everything he can to help Jack.
Over the past 7 years the MPS II Research Fund has funded research studies totaling almost $400,000.  In 2013the MPS II Research Fund joined forces with The Isaac Foundation making for a partnership that is simply unstoppable and in 2014 alone, the MPS II Research Fund, under the helm of the Isaac Foundation awarded 2 grants totaling $100,000 with a focus on gene therapy and vector transportation.  With every research grant awarded, our MPS community moves closer to a cure.
Our family’s decision to follow in the fundraising footsteps of the Purcell’s and the McFadyen’s really wasn’t a decision at all, but an instinctive and necessary step towards finding a cure for MPS.  Our family has held several fundraising events over the past year benefitting The Isaac Foundation’s MPS II Fund.  We recently held the second annual “Jack’s Family Fun Fair”, which had everything that Jack loves, including bouncy castles, face painting, petting zoo’s, fire trucks, a dunk tank, sweet treats and the list goes on.
A dedicated group of Jack’s friends and family also joined The Isaac Foundation’s “Race for a Cure”. With most team members only ever having run when being chased or having to wrangle a small and unruly toddler, the $10,000 we raised seemed well worth all 21 km’s! Even with a team member forgetting her shoes, that’s right, her shoe’s for the race, another running despite injuries and myself, who was 5 months post partum running with what I now painfully know were running shoes that were a full size too small, we all crossed that finish line.
I would be absolutely remiss if I didn’t take this opportunity to thank The Isaac Foundation.  Andy and Ellen; I wish everyday that we were brought together under different circumstances.  Our family is so thankful for your support, for your love of Jack and for your endless crusade to find a cure for our boys.  In a prior life, I spent years with the military and I took away some of life’s most valuable lessons: 1.  Always, always lead by example. 2.  Keep your battle buddy close and 3.  Hold the line.  At all costs. We would gladly follow you to the end of the earth and back to find a cure – you are true leaders.  We will forever keep you close to our hearts and we will hold the line.
Thank you.

We went on Trey’s Make-a-Wish trip to Disney World and stayed at Give Kids the World in Florida this past week. I found out a few days before we left that a fellow MPS II family we “know” (the mom and I have talked by phone, but never met) would be overlapping our trip with us.
After meeting them for the first time and reflecting on that meeting, it dawned on me what is so different about my friendships with MPS II parents and my other friends.
With every other friend in my life, we meet, and the relationship grows from there. A given with all of these friends is that personal information always comes after pleasantries. We also always meet before becoming friends and it is through spending time together that the friendship grows.
With my MPS II friends, the relationship works in a completely different way. We’ve never met beforehand, and the first time we speak, there are only rarely attempted pleasantries before diving into heartbreaking tears and sharing the deepest fear every parent has- the death of our child(ren). Without meeting this person, we immediately know and feel the depths of each other’s sorrow and fear because we have experienced it for ourselves. There is no time required to build a relationship. It exists the moment you speak.
So when we met Anne and Jeff Deneen and their three kids (their son Liam lives with MPS II) at Give Kids the World, and Anne talked about her pre-kids days of being an Atlanta Braves fan, it was after reading about what it was like for her to watch The World Series from an isolated and temporary apartment with Liam post-transplant, miles away from her two daughters at home, and from A New Perspective.
When she told me briefly about Liam’s bone marrow transplant, I listened, having spoken with her right after diagnosis, having followed her stages of grief on her blog, and having talked with her on the phone while she vacillated between deciding to transplant or choose enzyme replacement therapy.
When we talked superficially about MPS II, I knew that beyond the ease of her words and mine, were fear and worry that had brought us to our knees.
It is so strange and so wonderful to watch someone talk about MPS and our life like they talk about the weather (just like I do…. because we do it with the public and with our family and our friends all the time, and at some point we’ve gotta stop crying) and know just exactly how much is beyond that simple dialogue.
Anne and Jeff, meeting you was soul food. Thanks.
Love Deb
PS. Give Kids the World (where Make-a-Wish families going to Disney World stay) is AMAZING and sobering- a whole village full of families facing the mortalities of their children, some of who will not make it. I sat in meditation daily, breathing in the suffering of myself, my family and this village, sending us all healing with each exhale. What a powerful trip.
Even the smiles. There is SO much behind them. Behind everyone’s…
 

Over the past years we have funded a number of MPS II Gene Therapy Research projects, you can read about them here. We have also received a number of questions about what, exactly, gene therapy is. The Hunter Syndrome Research Coalition (HSRC), a team of members, alliance partners and families that seeks to advance research toward a cure for Hunter Syndrome through a collaboration of patient advocacy groups, family foundations, and other relevant organizations, has begun to coordinate MPS II organizations so we can raise funds for gene therapy faster and more efficiently. The HSRC recently posted information about what gene therapy is, so I wanted to share it here.
What is Gene Therapy?
Gene therapy is a technique that uses genes to treat and/or prevent diseases that are caused by mutated genes that function improperly or missing genes within the body.  Currently gene therapy is experimental and only being tested for the treatment of diseases that have no cure.
How does Gene Therapy work?
Gene therapy introduces a normal copy of the gene to restore the function of the missing or mutated proteins within cells. Genes can’t be inserted into the cells themselves, so they have to have a carrier or what is referred to as a vector. Viruses are often used as vectors since they have the capability of taking over cells, so therefore it would be able to deliver a new gene to these same cells. Once the gene enters the cells, then they have a normal functioning gene to properly restore the missing protein. The therapy is generally introduced into the body’s cells either by IV or an injection and various locations on the body have been used.
Can patients catch the virus used in Gene Therapy?
The viruses now used in gene therapy have the portion that causes the original virus disease removed. That portion is replaced with the genetic material needed for the therapy.
What is MPSII Gene Therapy?
MPSII or Hunter Syndrome is a lysosomal storage disease caused by a deficiency in the enzyme iduronate 2-sulfatase.  Research and studies have developed a IDS2 gene that is attached to a vector and is being injected into mice models in preparation for a clinical trial in humans.
The HOPE…
Permanent treatment for the neurological and physical courses of the disease – stop progression and hopefully correct some of the symptoms of disease.
Other treatments
HSRC is committed to coordinate funding for the most promising research opportunities that offer in-their-lifetime treatments for Hunter Syndrome patients. We seek to support projects that contemplate treatment for Hunter Syndrome patients along the entire spectrum of disease.

I have justifiable OCD (Obsessive Compulsive Disorder). My son is alive and thriving due to my obsessive and compulsive cleanliness and germ phobia. I am fully aware that at times, my OCD is a bit crazy. Or maybe a lot crazy. I am blogging on germs for all the parents whose children’s lives are at risk when they get sick.
Trey’s last IT dose was September 11 (the largeness of that date does not pass me by). Trey’s IT dose is saving his life- read my blogs or other MPS II parents’ blogs if you want to know more (missing multiple doses does have an impact on IQ). If Trey has any kind of infection on his dose dates, he runs the definite or possible certainty of missing his dose for two reasons: one, it is unknown, the effects of putting an experimental drug into my son’s brain when he is sick, and two, putting a person under general anesthetic when they are sick is dangerous for a variety of reasons.
On September 9, two people came into our house sick without asking me if it was okay. When I found out, one I asked to leave right away. The other, I felt uncomfortable asking them to leave, but I told the people involved that Trey had his dose that Thursday and that if Trey got sick, he couldn’t get it. This person said they’d be careful what they touched. As I then watched him touch our dog’s leash (that has metal on it- smooth & hard surfaces transfer germs well, and much better than soft surfaces like cloth), the metal handle to our cupboard (in the kitchen- where we touch things and then put them in our mouths!), our kitchen table, two wooden chairs, the bathroom light switch, the bathroom door handle on the outside (and I imagine at the very least, the handle that flushes the toilet, the sink tap, the bathroom door handle on the inside), the handrail down our stairs and the door handle to go outside. I also saw him wash his hands, then scratch his nose, and then give Trey a high five (wrong order and just don’t touch!?). I wasn’t lying when I told you OCD… However, watching what he touched enabled me to sanitize my house appropriately afterwards. Trey did get his dose, but not without a high level of anxiety and care on my part.
Trey’s next planned dose is October 2. Sadie came down with a high fever and flu this past Monday, September 22. Trey got a runny nose and cold Monday night. I whooped for joy (LOVE two infections in my house at the same time ;-)). This would mean that if Trey got the flu it would be gone by dose date and his cold would be on the way out and he would be dose’able by the 2nd.
For most parents, and for three weeks out of our month, getting sick isn’t a big deal (I can only imagine for parents whose kids are immune compromised all the time). However, for one week out of every month, Trey getting sick is a big deal. Trey is missing an enzyme. He needs that enzyme to prevent his brain and body from deteriorating. If he doesn’t get that enzyme, his body and brain decline.
I say this because I am learning over time that we don’t know what we don’t experience. I wouldn’t know what a big deal it can be to get sick if I wasn’t Trey’s mom. So I am hoping that the next time you or your family is sick, you consider:
1. Where you’re going and if you need to go (the last dose Trey missed was because a parent brought a child who had the flu to pick up her other not sick child from an activity my kids were in).
2. What you touch- this part boggles my mind (as a person who has justifiable OCD ;-)). The person I was telling you about above, who said they would be careful and then touched a whole heck of a lot in our home, including Trey, is the vast majority of our population. The only people I have met who actually understand how OCD you have to be to not transfer germs are other parents or individuals who’ve been through chemotherapy or similar challenges we face, and some (not all) doctors (even much of my family still don’t get it). Tip: one doctor told me that he has learned never to put his hands near his face.
3. How you wash your hands and when. Rinsing your hands with soap for a few seconds as the water is running isn’t good enough. You need to get your hands wet, scrub your hands with soap for a minute (turning the water off with a paper towel/cloth/elbow in between is friendly for our environment), then rinse the soap off. Don’t touch the dirty tap or door handle with clean hands! If you touch your face or body, you need to wash again and really, wash again after anything you touch, depending on how careful you need to be. Immune compromised folks, if I’m off at all here, tell me how it is!
Thanks for your compassion and understanding.
Love from a justifiably OCD Dragon Mom

This is Trey & his new service dog, Griffin. Griffin gets to go to hospital appointments, UNC, therapy appointments, swimming lessons and everywhere in between with Trey!
I felt it time for an update. Folks have been asking about Trey, about the IT trial, about Jack, gene therapy…
Trey is groovy (he can swim, can you believe it??). It’s weird, being where we are, but I’m going with it. I was told my son was going to die and I was going to watch it happen. Now he’s not. I’m not watching him lose anything, in fact I’m watching him learn and understand more and more every day. I’ve lost my desperation, my intensity, my anger, my fear. Of course those emotions are still there on some level, but they’re not front and centre. Although we have a lot more medical appointments than our neighbours, they’ve become routine, they’re no longer terrifying, so they’re kind of weirdly, normal. I feel more like my neighbours than ever before. And less like a mom to a child with a progressive difference. Which is awesome and at the same time, makes me so sad for my fellow MPS II moms who don’t get to feel the same.
Having spent years fighting and breathing fire, I am taking this space, this ability to breathe, to work on my attachment. As most of you know, I teach yoga and I read a lot about yoga and enlightenment. MPS made me do it. MPS drove me crazy, so that as soon as the craziness took a break, I searched for a way to find my sanity, my clarity again. Although Trey’s doing awesome, I am learning that part of being human is suffering, so I am going to suffer often and a lot, again. Eckart Tolle wrote something that I have been sitting with for about a week now:
“Humanity is destined to go beyond suffering, but not in the way the ego thinks. One of the ego’s erroneous assumptions, one of its many deluded thoughts is: ‘I should not have to suffer.’ That thought itself lies at the root of suffering. Suffering has a noble purpose: the evolution of consciousness (the awakening) and the burning up of the ego. The man on the cross is an archetypical image. He is every man and every woman. As long as you resist suffering, it is a slow process because the resistance creates more ego to burn up. When you accept suffering, however, there is an acceleration of that process which is brought about by the fact that you suffer consciously. You can accept suffering for yourself, or you can accept it for someone else, such as your child or parent. In the midst of conscious suffering, there is already the transmutation. The fire of suffering becomes the light of consciousness.” Eckart Tolle
The sooner I can accept suffering and be with whatever comes up, the sooner the intensity will die down and I can begin to see everything as beautiful. We’ll see when things get intense. I’ve had non-MPS opportunities to suffer, to sit with it and to allow space for suffering, but not the watching your child die in front of your eyes type of suffering that some of my close friends have to do. Which in my books is completely different.
I don’t assume for a second I would have had the chance to explore my spirituality had Trey not gotten into the trial, in fact, had Trey not gotten into the trial, I think my crazy would have only intensified, so I accept this knowing as part of my path. I am doing the best I can with what I’ve got. It’s hard, when my friends are still watching their sons die.
Which is why I’ve been here less. I’ve been reading and contemplating and meditating and practicing yoga and watching and learning from my kids and life more. I’ve been sitting in the quiet moments, finding space. I’ve fallen off the MPS radar a bit. I still have a decent idea of what’s going on because we fund research and fundraise and I talk to my MPS friends, but not as much as I used to, which I attribute to not being as desperate, not having to fill the space, to do something, to keep the fear out. The way I was before wasn’t sustainable. I’m working to find sustainable, because I can.
For an update on Jack, he is about to turn 7 and he is progressing with the way MPS does. Walking Jack’s path with his mom Jamie, is painful and hard, unfair and unjust. She recently wrote a blog that you can read here.
The Intrathecal Trial Phase II/III trial is now in full swing, the new IT device has been approved and in the next months we will be flying to UNC to have it placed, let’s hope it works better than the last one did!
MPS II Gene Therapy animal model research is also in full swing in different labs around the world (you can read our Grants page here to see the research we’ve funded). We want to move things along faster than they are going (always with rare disease). Having recently spoken with a researcher in the field, what he suggests is getting all the MPS II GT researchers in the world together, have them settle on a virus vector and then throw millions into this one vector and bring it to human clinical trials. This is controversial (please feel free to leave comments below, conversation is good!), but after speaking with another MPS II parent in Spain, I feel we need an organized worldwide MPS II group to organize a researcher meeting and also to organize MPS II Research funding groups to save their money and all throw it into GT… any takers?? Your thoughts?
If you have questions about anything I’ve said above, as always, I’m here. In solidarity and with love,
Deb
 

MPS II threw my life upside down. When Ryan and I were pregnant with our first baby, Trey, our midwife told us that although we wouldn’t want to, we should consider and talk about what we would do in the case of a stillbirth. Ryan and I tried to have a conversation, but it was awkward and uncomfortable. We talked about it briefly and superficially, avoiding the bigger conversation- impermanence.

If we don’t have to talk about it, we won’t. Impermanence- death- is so scary, we don’t speak of it unless we’re forced to. Well, MPS forced my hand. I faced death and am now open to the conversation. Most still aren’t. Our reality is most people’s nightmare. I get that. I wouldn’t have faced it if I wasn’t thrown into a world facing death if not daily or weekly, monthly.

Now that I’m in the middle of the conversation though, my life has changed completely. Ana Forrest in her book ‘Fierce Medicine’ talks about stalking her fears. It’s a horrifying prospect, but when we can actually face and stalk our fears and come to the root of them- death- life, surprisingly, lightens up. Really.

Days like yesterday, which was The Scotiabank 5K and 1/2 Marathon Run-for-a-Cure, highlight my changed life. One of my best friends from childhood, who just had a baby and is getting married in less than a week, came to run. My cousin, hugging me after the run, told me that as she began her half marathon, she thought of our journey and all we’ve been through. She told me this with tears in her eyes. Trey’s ENT doctor joined our team and ran for Trey. The picture above, of my kids and my nieces and nephews all wearing shirts emblazoned with ‘Run for Trey’…

This journey we are going through has not only changed us, it has changed the people around us. Our friends and family- our community- raised over $10,000 for this run. $10,000 is not a small amount of money.

So while I would not have picked this journey in a million years, Trey and MPS have changed me and the people who surround us, for the better. THANK YOU to all who supported us in our run. You can see pictures from the event here.

I am SO excited to say that because of all your support, we are able to fund not one, but TWO $50,000 gene therapy research projects this year, Dr. Scott McIvor’s AAV Mediated IDS Gene Transfer for MPS II and Dr. Brian Bigger’s Evaluating stem cell gene therapy for treating the brain in Mucopolysaccharidosis II. In less than a year, we have funded over $200,000 to MPS II research. It makes me smile every time I think about it. HOPE for a future for our kids. You can read the full summaries of the research we’re funding on our grants page here.

Dear MPS II Research Fund Supporters,

Happy Spring!! Thank you again, so so much for your support of our Hope, Sweat and Breathe Yoga Fundraiser on March 1. With donations coming in for two weeks after the event, we ended up raising over $25,000. AWESOME.

We are now into the swing of organizing our first ever run for MPS II Research! On Sunday, June 22, our MPS II Posse is running in the Vancouver Scotiabank 1/2 Marathon and 5K to raise funds for a cure for MPS II. Trey’s dad Ryan is running in the 1/2 Marathon and Trey’s little brother Avery is running the 5K. With Ryan never having entered a run, let alone a 1/2 Marathon, it’s a run for love, with lots of heart. And if you haven’t seen Avery’s fundraising page message, check it out here. Ave’s gotten to meet and get to know quite a few boys with MPS II on our trips to North Carolina and Chicago. Not only does he see what Trey and other boys in the IT trial go through on a regular basis, but he’s gotten close with one particular boy, Jack, who is not getting the treatment Trey is, and whose disease is progressing quickly. Ave wants Jack and all his friends with MPS II to live and he is running for all of them.

We have a solid team of runners and I am so touched by everyone who has joined us. I am really excited to cheer our runners on from the sidelines with Trey and Sadie!! You can check out our MPS II Posse at the below link. There is still time to join us if you are interested in running, just send me a message. If you are not interested in or able to run, you can also support our team by sponsoring a runner and donating online.

http://www.gifttool.com/athon/OurTeamPage?ID=2012&AID=2576&TID=17350

Please let me know if you have any questions. I hope you have a beautiful day. Thank you for your support.

Lots and lots of love,

Deb, Ryan, Trey, Avery and Sadie Purcell

PS. Above is a photo of Ryan pre-run this morning and the beautiful boy he is running for!!

This picture was taken 10 years ago Saturday, on the day of Trey’s birth. Wow.
Saturday was a big day: Hope, Sweat & Breathe, our yoga fundraiser on Trey’s 10^th birthday.  We’ve had a lot of different events over the years, the last one a couple years ago. Each year we have people come to our events who have been there every year. You have NO idea what that means to us. The challenges that we face with MPS II Hunter Syndrome aren’t temporary. To see people year after year who have our backs is indescribable.  You are our safety net at times when the challenges of Hunter Syndrome outweigh the gifts and we feel like there’s nothing to catch us, no way out or through.
To our neighbors and community: seeing families and friends practice yoga together whom we usually see on our street, at soccer, at the coffee shop, at gymnastics, at Musical Theatre, work or on my yoga mat (and the list goes on and on) was awesome. My heart caught in my throat with each person I saw.
There were new faces: friends of friends, friends of family, students of Mike, Chris, Lindsay and Melissa… the event would not have raised over $18,000 without your support.
Hope, Sweat & Breathe was like all these pieces of our lives coming together on one day to say we love you. We support you. As a family regularly faced with the mortality of their child’s life, this support and love is immeasurable.
As people walked into Hope, Sweat and Breathe, what came to mind time and time again is that each person who walked into that school, has a life of their own. They have families, jobs, friends, challenges, errands to run, activities they like to do. Each person who walked into that school Saturday took time away from their own lives for US. THAT means so much to us. I don’t think you know how much that means to us. I write this in tears.
I want to thank every single person who took part in ANY way for our event, whether with a note to wish us all the best, a donation, a hug. If I didn’t get to say hi to you or I forgot to thank you here, please know it all counts to us; every single act of love and kindness.
To our vendors: Inner Fire, Hippy Pippiz, True Cuddles, For the Love of Food, David’s Tea, Leap Physiotherapy, and Aimee Cakes. You were AMAZING. Your clothing, your knowledge, your personalities, your contribution. We will support you in any way that we can. Thank you. A special thank you to our kid’s table which kept the smaller people engaged and interested.
To our sponsors: Shire Canada, Nourish Market, Cupcakes by Heather and Lori, Butter Baked Goods, painPRO Massage Therapy, Tiger’s Eye Karate Do, Delaney’s Coffee House, Posy Flower Shop, Speedbolt Printing Solutions, Tom Lee Music, The North Shore News, The North Shore Outlook, On Now Media, Lynn Valley Life and The Botto Team. You enabled us to spread awareness and keep costs low in order to put more money towards research. When researching for a cure for a progressive disease, this matters more than anything else.
To Lululemon: thank you for pleasantly surprising a number of our guests with new mats and for making volunteering even more fun. I think we may have grown a few more yogis with your help. 🙂 Thank you also for helping us spread awareness about MPS II and our event, and Chloe and Dustin, thank you for volunteering!!
To our raffle donors: Carats, The Colored Diamond Company, Seymour’s Pub & Beer & Wine, Gillian Horvath, Maa Yoga Studio, Yogapod Yoga Studio, Distrikt Yoga Studio, Kiss & Makeup Apothecary & Apparel, Susan Washington, Banyen Books & Sound, Country Furniture, Marble Slab Creamery, Pivotal Health, Tiger’s Eye Karate Do; our raffle winners were thrilled. Really thrilled. Handing our raffle items is so much fun. And, you helped us raise a LOT of money!!
To our volunteers: you were fun, you were helpful, you are generous. Thank you for your time and your patience. You were FABULOUS. A special thanks to Karen Stark who I could have not done this event without.
To my teachers: Mike, Chris, Lindsay and Melissa. You have transformed me. Words are not enough. I love you.
To PeterJack Rainbird: Your music grounded me in the midst of chaos and brought beauty to our event.
To our photographers Bettina Stiles and Krista Purcell and our documentary filmmakers Christian & Saayeh Anderson & Joey Howell: Thank you for sharing your talent and gifting us with your time. I deeply appreciate you recording this event so we can remember it for years to come. If you would like to know more about the filmmakers who were there, please go to: http://boyswithbiggerhearts.org/.
To our MC Monica Morong: There are few who truly understand our life. It means so much you were there for yesterday and for years to come.
To my family and close friends: I think and hope you know how deeply I love you. The person I am is because of you.
To Trey: Happy Birthday. Prognoses are not always correct. We are going to live and love and laugh and smile. I believe in you.
If you couldn’t make the event, but would like to support our cause, you can donate online at: www.treypurcell.com. Tax receipts will be issued for donations of $15 or more.
LOVE LOVE and more LOVE,
Deb and Ryan Purcell

Before I get on with the letter that Jamie and Jason Fowler hand delivered to Flemming Ornskov at their brief meeting in Chicago last Saturday, January 18 (more can be read at Jack’s new website: http://www.savejack.ca/), I am bursting with hopeful news. Due to new and close connections our MPS II community has developed with the FDA, this past week, our #SaveJack team connected directly with the FDA on one very important point. If an adverse event happened to Jack, would or could the FDA shut down the trial? This is a quote directly from the FDA this week:
‘As far as I know, and in our collective knowledge here at CDER, adverse events occurring during the development program have not delayed the programs.  In one case, we know the drug development was actually accelerated.’
Former FDA Commissioner Dr. Lester Crawford stated:
“The FDA, categorically, does not attach special significance to adverse events reported from such expanded access program as (one critic) has tried to join.  We recognize that these programs involve less-controlled use of new drugs, and we assess the reported data accordingly.  The development of a new medication is not slowed by side effects occurring outside clinical trials.”
In my eyes, this has been the only question holding us back. I can see from Shire’s perspective why they would not approve a drug for a child if it could threaten their clinical trial and shut down treatment for many other children (not including the financial burden they must look at). However, with the above answer straight from the horses mouth, there is no good reason not to submit an application to the FDA for Jack Fowler to receive Intrathecal Elaprase.
It will not harm their trial. A doctor and institution are ready. The finances are in place if there are any issues with funding. We just need Shire to say yes. With this new news, I am so so so hopeful that there is no longer anything holding Shire back from saving Jack’s life.
Please please please Flemming Ornskov and Phil Vickers, the decision has been made so easy for you!! Just say yes! And finally, here’s the letter:
Dear. Dr. Ornskov,
My name is Deb Purcell and I am the mother of a boy, Trey, who lives with MPS II. The long version of our journey is on our website at www.treypurcell.com. The short(er) version, I will share with you here.
Trey was diagnosed unexpectedly at 23 months of age on February 14, 2006. That diagnosis uprooted our lives. It changed everything about what it means to be a parent, what it means to be alive. It took my husband and I at least a year to adjust to what it meant to be parents of a child with MPS II. Most of our days were filled with tears and the only reasons we could find to live were our two children at the time, Trey and his 3-month old brother Avery.
One year after diagnosis, after a huge battle with our government to access the drug, Trey began IV Elaprase. With Elaprase giving us hope, life improved. However, as you know, 2/3 of kids with Hunter’s are cognitively affected. Beginning when Trey was two, every six months we traveled to North Carolina to have Trey’s IQ tested. With each test, we were told that the chances of Trey’s brain being affected were reduced. When Trey first tested for the Intrathecal trial at the age of five in 2009, Dr. Muenzer told us Trey’s brain would be okay. His IQ was stable and Trey was beyond the age at which his IQ would decline. When Trey was six, I asked Dr. Muenzer to test Trey one last time, to be sure. It was then we were told Trey’s brain was affected and Trey would be screened for the trial.
I cannot explain to you what it is like to live for four and a half years, wondering if my son would live or die. Because that is the difference between the severe and attenuated form of Hunter Syndrome to a parent. Attenuated means college, jobs, traveling, LIFE. Possibility. Severe means g-tubes, seizures, wheelchairs, safe rooms, vegetative state, and DEATH.
For four and a half years, every moment of my life was taken up by fear. If Trey had a toilet accident, if he hit his brother, if he forgot a word, if he put his shirt or pants or shoes on backwards, if he had a tantrum, if he didn’t finish a puzzle or scribbled on paper instead of drawing, if he choked on food, if he woke in the night, I was seized by terror and the possibility that Trey’s brain was affected. Even when Trey did great, when he learned a new word, when he shared, when he learned to cut with a knife or ride a bike or put his hearing aids in, I wondered if that meant his brain was okay. For four and a half years, I lived with indescribable fear.
When we learned Trey’s brain was affected, I had the second biggest collapse of my life, the first being upon diagnosis. When I got back up after that, I had something to fight for. The Intrathecal trial.
I planned how often to call and email Dr. Muenzer so that he would know we want Trey in the trial and are dedicated and not giving up, but not so much that I would put him off. We stopped turning on any movies or TV and hired daily tutors to keep Trey’s cognition high enough long enough so he would not drop below inclusion criteria. I interviewed doctors about symptoms of hydrocephalus so I could have some indication of whether or not Trey’s intracranial pressure (ICP) would exclude him. We did anything and everything we could- I could tell you more in person- to ensure Trey would qualify for the trial.
That qualifying trip to UNC was the hardest time of my life. There was a drug that would save my son’s life, and an arbitrary number would tell us whether or not he would get it. Waiting four hours while Trey was under general anesthetic for the qualifying tests is indescribable. I have never been so close to a panic attack. For the first two hours I distracted myself with reading and practicing yoga. As we got closer to the time when Dr. Muenzer would walk in that door and give us the news, I could only sit and stare in front of me. I could not talk to my mom or husband. Every time the waiting room door opened, my stomach jumped and my heart dropped. I began to feel nauseous and sweaty and shaky and after an hour and a half of this, I thought I was going to throw up, pass out or explode (I’m not exaggerating). When Dr. Muenzer walked in and told us Trey qualified, I collapsed with relief. Trey got to live. Trey would live. I couldn’t believe it. It took me months to understand what that really meant. Trey gets to live.
Life since Trey qualified for the IT trial has changed completely. Instead of a life of fear and loss and sadness, our family is LIVING. Really living. I don’t have to wonder what skill or word Trey will lose today or push away the thought of when he will die and what song I will play at his funeral.
When Trey first started receiving IT drug, I recorded every new thing he did. This was easy to notice because Trey had stopped making big gains. He lost 25 IQ points between August 2010 when his IQ qualified him for the trial and 14 months later when he got his first dose of IT drug in October of 2011. At that point Trey was down to one-syllabyl words and 3-4 word sentences. His proprioceptive and vestibular needs led him to hit and bang anything he could get his hands on and spank any bum within his reach. His younger siblings were not safe in a room alone with him.
Now? You really need to speak with my family and those who worked with him before and after. They will cry. EVERY LAST ONE OF THEM. There have been so many changes in Trey as a result of this IT drug, I could wrote a thesis on it, but here are a few:
I can’t even count how many words are in Trey’s sentences. His language has grown so incredibly that he uses complete sentences (he used to skip small words like ‘it’ ‘as’ ‘the’), joins sentences with the word because (never did he do that before) and uses descriptive language. Trey’s speech therapist noted that before IT drug, when she tried to play a simple game with him, he would grab pieces because he couldn’t wait and throw the game when he was done because he was frustrated and didn’t know how to say he was done. About six months ago Trey threw the game and when she asked why, he said ‘Because I am done with the game and I wanted to throw the game so the pieces would go over your head.’ More recently, Trey told her he didn’t want to play so they stopped, and about two months ago, she pushed Trey even farther, telling him she wasn’t done playing so he had to wait, so he sat and waited. A month ago he kept playing until the game was over, even though he was done.
It’s small details like these that are noticeable and some I don’t even notice right away. It was random one day that I suddenly realized Trey no longer has a need to drum and hit, that he no longer smacks people’s bums.
He began to hug us. Before the trial, I could tell Trey wanted to hug, but he would lean in and back right out again. He couldn’t hug. Now we hug for hours, which as a mom told her child was going to die, is by far the best perk.
Trey is learning to swim. He is learning his letter sounds and learning to read. I never thought he would. Trey now understands one-to-one correlation with numbers and is learning to add and subtract. No matter how many times I tried, he never made this connection with numbers before.
Our family is learning ASL and for the first time Trey has the attention to sit for an hour lesson and actually attempts to form signs with his hands.
The biggest change is quality of life. Trey can be alone with his siblings, he understands not to touch sharp knives or touch hot stoves. I can tell him to go to bed and he will. For the first time, Trey is beginning to understand and make connections. When I was trying to figure out if Trey’s brain was affected or not, Melissa Hogan described ‘passing conversations’ to me and it became clear as day. When you talk to a child who is cognitively affected, it’s like you’re two cars on a highway passing each other. The connection is missed. Trey was just like that. Every day now I see new connections being made in Trey’s brain. I feel like I can see the IT Idursulfase clearing new pathways in his brain. It is so so very awesome. Trey has a progressive disease that is no longer progressive and is actually reversing itself. I keep wondering how I got so lucky and if this really is for real.
Jamie could have been me and I could have been her. Jack could have qualified for the IT trial and Trey could have been excluded. It was the flip of a coin. Chance. What would I want her to do for me if I were in her shoes? How hard would I need her to fight for my son’s life? These are questions I ask myself.
I will fight for Jack and I will fight for Trey because they are both my boys. This means fighting until Jack gets access to drug because as a parent, it is incomprehensible to me that anyone thinks another parent could give up on their child’s life. It also means fighting to get this drug approved if anyone gets in the way. If there is one thing MPS parents learn how to do better than anything else, it is to fight. We have been fighting systems, institutions, governments, schools, hospitals, insurance and pharmaceutical companies, and injustice since the day our children were diagnosed.
What would I do to get this drug approved? ANYTHING. What would you do to keep your child alive? ANYTHING. This drug has saved Trey’s life. I would do anything to get this drug approved because it is the only thing keeping Trey alive. This is not even a mild exaggeration. That some ponder its efficacy is shocking. It makes me realize that those people have no connection to families with Hunter Syndrome. This drug is a miracle.
Sincerely,
Deb Purcell