“To get through the hardest journey we need take only one step at a time, but we must keep on stepping.”

Monday, 31 October 2016

Gene Therapy : Donations and Dreams

(Taken from our MPS II Research Fund website)
The Hunter Syndrome Research Coalition (the result of our MPS II family banding all our organizations together to fund research) recently donated $200,000 to support the next phase of Dr. McCarty and Dr. Fu’s MPS II gene therapy work.
We are incredibly thankful to our donors – friends, families, and even strangers, from little children, siblings, parents, to grandparents, who make our work possible.
The next steps of fundraising and research funding will require even more concerted efforts – over $2 million is needed to bring the research to a full human clinical trial. We will be reaching out soon to gather support for our future efforts. Thank you so much for your donations and efforts so far to help save this generation of boys with Hunter Syndrome!
Below is our press release:
Parent led-fundraising efforts have donated over $500,000 to treat the rare disease Hunter Syndrome (MPS II)
Vancouver, British Columbia – Over the past three years, parent-led efforts have raised half a million dollars to support gene therapy research at Nationwide Children’s Hospital (Columbus, Ohio) to treat the ultra-rare disease Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II). This month alone, Vancouver, Toronto and Montreal based MPS II Research Fund, along with Nashville-based Saving Case & Friends, Ohio-based Help Extinguish Hunter Syndrome, and Texas-based Hunter Syndrome Foundation collectively donated $200,000 to bring the research closer to a human clinical trial.
Together with several other parent-led fundraising efforts – Caring for Carter, Ryan Our Lion, and Hope 4 Hunter, these foundations have supported this research, led by Douglas McCarty, Ph.D. and Haiyan Fu, Ph.D. of Nationwide, for several years.
Hunter Syndrome is a rare, genetic condition that affects approximately 2,000 patients worldwide, almost exclusively young boys. Patients are missing an enzyme, resulting in the accumulation of cellular waste throughout the body. Babies develop normally for the first few years, then begin to experience progressive symptoms like stiff joints, enlarged liver and spleen, behavioral problems, constant ear infections and runny nose, and heart valve complications. The average life span for someone with the most common, severe form of the disease is in the early teens.
There is no cure for the disease, although once diagnosed, patients can begin receiving a weekly infusion of an enzyme replacement therapy. This medication, Elaprase, is one of the most expensive in the world, often $400,000 or more per patient, per year, and only stabilizes some of the physical symptoms of the disease. Because it does not cross the blood-brain-barrier, it does nothing to prevent the progressive brain damage that occurs in most children affected by the disease.
Dr. McCarty notes, “This gene therapy for MPS II is the result of more than a decade of collaborative research efforts of the research team here at Nationwide and Dr. Joseph Muenzer [of the University of North Carolina, Chapel Hill], with support from MPS II patient family foundations. This gene therapy approach targets the root cause of MPS II by delivering the correct gene using a vector that can cross the blood-brain-barrier. Our preclinical data have shown great promise with lifelong benefits in MPS II mice after a single intravenous injection. We believe that we are well positioned to move forward towards a Phase 1/2 clinical trial in patients with MPS II.”
To raise funds, the foundations organized local fundraisers and also promoted an award-winning online campaign called Project Alive (ProjectAlive.org). The campaign received a Telly Award for its powerful and emotional video and an Honorable Mention for its song “Alive,” written by a parent of a child with Hunter Syndrome, from the International Songwriting Competition.
About The MPS II Research Fund
Started in 2004, the MPS II Research Fund is a leading Hunter Syndrome research and advocacy organization within The Isaac Foundation, raising awareness of Hunter Syndrome globally, funding curative research for the disease, and advocating for patients and families affected by Hunter Syndrome. For more information, visit www.treypurcell.com or www.theisaacfoundation.com.

Friday, 16 September 2016

2016 Run for a Cure

On October 17, 2016 Jack's Journey Jogger's will be participating in the Half Marathon and 5Km events in Toronto, ON.  We humbly ask for your support by sponsoring one of our participants.  All funds raised will go towards research for a cure.

Please watch this video  Kristin's Video

To sponsor our participants click here

And That's a Wrap!

It has been such wonderful summer I am truly sad to see it come to an end. Life, for the first time since D-day (diagnosis day), seemed to actually reflect that of a somewhat typical one.
I think the calmness is attributed to the fact that 1) we have not been jetting down to North Carolina,he finished the clinical study he was in as he is not cognitively affected by the disease, thank you ) 2) Jack has not had to undergo any surgeries unlike the past 2 summers 3) we have only had one appointment at Sick Kids Hospital over the summer 4) the biggest reason, Jack is doing really good. His brain is sharp and his memory is better than mine on a good day. He continues to prove just how strong and fearless he is in battling this disease.
One of Jack's biggest milestones this summer was learning how to swim. It seemed he grew gills over the summer and has been in the pool almost every day. He also became a "seasoned camper"attending his second summer at the local YMCA day camp . We ventured to Cedar Waterpark a few times, spent a day at the Toronto Zoo and had a ton of gatherings with family and friends.
Although Jack was also sad to see summer break over he was so enthusiastic about starting back to school. He will be entering grade 2 in Mrs. Fenn's class. The same tech savy teacher he had last year. Which is a bonus as this year he will be getting an iPad to assist him with his fine motor issues. Along with the FM (hearing) system he got last year I feel he will have even more support to assist him in another successful school year.
A big change Jack will have at school this year is having his little brother Owen there. It will be interesting to see how it plays out. I am sure Owen will do his best to annoy him as Jack shows him the ropes and bosses him around on the playground.
And so with summer coming to an end it also means our break from appointments is over (we have 5 appts between now and the end of the year at Sick Kids). So whatever news the coming months and appointments bring I am grateful we and most of all Jack was able to have a break from the chaos and enjoy a carefree 'normal' summer.

What a wonderful day it was for some baseball!

This past Saturday we held a fundraising baseball tournament with proceeds going to research for a cure for MPS II. 
Everyone was is great spirits and all were focused on having fun and enjoying themselves. Cheering and laughter was the soundtrack to the day and smiles were a constant presence on everyone's faces.
Thank you so much to all who came out to help, play and spectate. With your support we were able to raise $2400.
A special thanks to the Buckhorn Community Centre, Flannigan's Butcher Shop and The Thirsty Loon for your contributions to this charity event.

MPS II Information

A great new webpage just launched that provides a well informed overview of MPS II. Along with providing facts about the disease it also reviews the current treatment available along with the upcoming clinical trials and research projects which many of you have helped to fund.


The Good The Bad And The So So

Five trips to Sick Kids in the past few months has been exhausting but required to make sure we do everything possible to help manage Jack's symptoms and monitor the progression MPS II has had on his body.
With these appointments we always go into them hoping for good news, preparing for bad news but sometimes we get news that lies somewhere in between. Today's news was just that, some good news and some not so good news but the not so good news is something that is fixable.
Also something big happened today! A first for Jack. He was going into have several X-rays done and the technician asked me to wait in the hallway. I had a quick pep talk with him and reluctantly walked out as he continued to chat it up with ladies. So I impatiently waited, staring at the door ready to be called back in to help. When the door opened there he was all smiles as he was so proud of himself. It was a moment that will stick with me forever as it was a testament to just how grown up he is getting and how accepting he is becoming of his world.
Now no more scheduled appointments at Sick Kids until September and hoping it stays that way. School wraps up next week and we want to make the most out of this Summer!


My superhero is getting so big and is maturing. He is such a brave kid. Now that he his older I am trying to explain, in a kid friendly way, what procedure he is having and what will happen. Today he knows he is having an MRI. That they will give him some medicine via his PORT that will make him sleep. When he is sleeping they are going to take some pictures of his head and neck. When he wakes up there will be no cuts or bandages.
I can only hope that being open and upfront with Jack will make him better understand what and why things are happening to him and in turn will make him less afraid. After all knowledge is power and I will continue to remind myself of this in the weeks ahead as we wait for the MRI results. #prayingfornochanges

We Want You!

Jack’s Journey is recruiting for this year’s Run for a Cure and we want YOU!
This year we are hitting the pavement in the Toronto Waterfront Marathon on October 16, 2016.
Why become part of our team? There are so many reasons, but the biggest being that it is a win/win. It gives you the extra motivation you need to become a more fit, active and healthier you, all the while raising funds that will go straight to research for a cure for MPS II and help our Jack.
You can chose to take part in the 5km race, the Half-Marathon (21km) or the Full Marathon (42km). No matter what your current running level is (non-runner to avid runner), there is a race for you and there is lots of time to prepare.
We would be honored and grateful to have you take part in this awesome event, so if you would like to join us, please let us know and we can send you further details.

New Milestone

The fact that he is reading on his own = Awesome!
The fact that he is really enjoying to read = Amazing!
The fact that he has MPS II and is reading on his own and enjoying it= Absolutely Priceless!
Two and a half years ago the doctors told me that 2/3 of children with this disease slowly loose their developmental milestones and regress. But Jack is beating the odds, he is thriving. Although the disease affects him physically, mentally he continues to advance along with his peers. It amazes me everyday at how much more mature and independent he is becoming. 6 going on 16.
I am totally overwhelmed with joy and beyond grateful! This was the pick me up I needed today and thought I would spread some of my happiness.

Check out the video
He is Reading!!

It's The Most Wonderful Time of the Year

We are officially on Christmas vacation for the next 2 weeks! The boys are beyond excited for Christmas day to get here. Jack has taken charge of the advent calendar and has taken fondly to doing a countdown announcement every morning. 5 more days people!
The festivities kick into high gear this weekend with 2 Christmas parties. We are looking forward catching up with friends and family over some delicious food. But I am also looking forward to having a few down days with my boys that involve staying in our pj's all day long and watching movies.
We would like to thank Lockside Trading Co. and all of you who came out for their pictures with Santa. It was an amazing turn out and we are so very grateful.
The past year has been quite the roller coaster ride for our Jack but thankfully with many more ups than downs. We were able to close a few chapters and move forward with more hope than ever before.
Thank you for following Jack's Journey and to everyone for your support.
Have a wonderful Christmas with those that you love and a happy and healthy 2016.