MPSIIFund News

Johnson & Johnson began responding today to the hundreds of emails MPS families and supporters sent to them on Wednesday and Thursday. If you sent an email to J&J, you can expect this email to arrive in your inbox soon, you can read it here.
However, the letter includes a number of… discrepancies. The Isaac Foundation has made a point to be transparent, so that all interested parties can know the facts, and for those who don’t know us personally, gain our trust. To maintain our transparency and hold your trust, Andrew McFadyen has also replied publicly. You can read his response here (you may notice that Andy’s letter is addressed to a Dr. Ray. While the rest of us got letters from Dr. Silber, Andy got a letter from Dr. Amrit Ray, Chief Medical Officer for J&J’s Pharmaceutical Division, Janssen).
I will continue to post updates as they come, so that if you are interested in following this issue, you can find information here. Please continue to let J&J know your thoughts as our conversations with them continue.
It is my sincere hope that J&J is now genuine in their offers to help our families. However, these offers to help did not come until threats were made, and at this point, although their words sound promising, they have not actually made any commitment to fund a trial. I do believe, due to the fact that the only contact J&J has made with The Isaac Foundation is after a lot of public pressure (ie. releasing Project One Million, The Globe & Mail article, developing the ShameonJnJ website, writing hundreds of letters all on one day to the higher up’s), that the only way J&J will decide to do the right thing, is through continued pressure. If you have a chance to read the above letters (or not), please drop back into the ShameonJnJ website and let them know what you think as the plot thickens. J&J is checking these websites regularly, so your comments make a difference!
I am really hoping that J&J acts on this quickly, but if they do not, we have a press release ready to issue next week and some other projects in the works. Stay tuned!
To J&J: Once you get on board with us, we’re good to work with and a really grateful group! You’ve been on the bottom side of the coin with us to date, just imagine in what high esteem we will hold you if you agree to fund a trial and save our kids’ lives!! It’s so much more fun doing the right thing. You’ll be a lot happier and smile more. C’mon J&J, just do it!
 

This song is for Trey, for Jamie, Melissa, Andy and Ellen, for MPS parents, and for all parents who would do anything for their kids.
[youtube]http://www.youtube.com/watch?v=OZpaDfrWE1w[/youtube]
Our battle with Johnson & Johnson is heating up. In one week, the ShameonJnJ website has received over 10,000 hits from around the world. Yesterday, on ‘Anti-Bullying Day’ in Canada, MPS friends and supporters sent hundreds of emails to the point person in charge of the Elmiron MPS file, Dr. Steven Silber, the VP & Global TA Head of Established Products at J&J. Today, on International Rare Disease Day, another pile was sent to the Chief Scientific Officer for North America, Dr. Norman Rosenthal, CEO Alex Gorsky, and Chairman of the Board, William Weldon.
I have been blown away by the support for this cause. It’s public, it’s against one of the biggest companies in the world, it’s a big deal and a lot of work, but people have, despite these challenges, continued to support us. Because you care. Just saying that brings tears to my eyes. For all of you who have posted on the ShameonJnJ website, who have posted on our Facebook pages, on Twitter, on this website, you are AMAZING. You make my heart swell to the point of tears. THANK YOU. I cannot say thank you enough. Thank you.
We don’t want to fight. Fighting sucks. But we will do it for our kids, and you supporting us keeps our hearts full, while we continue to put on our armour.
I have a few more links for you, posts that have come out since my last blog. First is a post from my dear friend Jamie, another mom’s perspective on this fight: How Far Would You Go?
Second is a FAQ sheet posted by Andrew McFadyen with the hopes of clarifying any confusion on the J&J/Elmiron/MPS issue, you can read it here.
Also, the US MPS Society has decided to post on the issue, here.
Below is the letter I sent to Dr. Silber, Dr. Rosenthal, Mr. Gorsky and Mr. Weldon:
Dear Dr. Silber, Dr. Rosenthal, Mr. Weldon and Mr. Gorsky,
My name is Deb Purcell. I am from Vancouver, BC, Canada, and I have a son, Trey, who lives with MPS II. He is the same age as Isaac, Andrew and Ellen McFadyen’s son, of the Isaac Foundation.
I have been aware of Dr. Calogera Simonaro’s research with Elmiron ever since Andy and Ellen started funding it, but was not enlisted to help with anything until Andy told me J&J was not eager to help fund human MPS clinical trials with Elmiron.
Dr. Silber, you have told Andy that you work with rare diseases and families with rare diseases, so have an idea of what our life is like. Let me paint you our picture:
Similar to Andy and Ellen, we had to fight the government, in our case the BC government, for the first ever treatment for MPS II, Elaprase. I imagine you are aware of this IV Enzyme Replacement Therapy. Our next fight was to get Trey into an intrathecal clinical trial at the University of North Carolina under Dr. Joseph Muenzer, to infuse the enzyme he is missing into his central nervous system. Only accepting 16 kids worldwide for phase I/II, this was no small task. Along the way, I have also had to fight doctors who know less about MPS II than I do, for tests, procedures, and appointments that are in Trey’s best interests. My point in telling you all this, is that I have learned to fight. Being the parent to a child who is dying, I am a mother with nothing to lose.
Also similar to Andy and Ellen, we have fundraised. Due to this work, I have developed relationships with TV, radio and print media in Vancouver from Global TV, Shaw and CTV to the Vancouver Sun & Province, CBC etc. We are also currently part of two documentaries, one out of Denver about MPS II, and one out of the University of British Columbia (UBC) that is funded by the Canadian Institutes of Health Research (CIHR), to bring awareness to Canadians about rare diseases and rare disease treatments in our country. I have let both teams know about the situation between J&J and MPS and I hope they will get in touch with you.
In addition, my husband is in the film industry, and as a result, we have gained the support of many actors, who have hundreds of fan sites and thousands of followers. I will provide you with the information so that if you want to confirm my statements through your own research you can (you can read articles, listen to radio interviews and watch video footage on the media page of Trey’s website: http://www.treypurcell.com/blog/media/), but actors who have either donated to our cause or attended our events and galas are: the main cast, as well as writers, creators, and producers of ABC/CTV’s Once Upon a Time (Edward Kitsis, Steve Pearlman, Lana Parrilla, Ginnifer Goodwin, Jennifer Morrison, Robert Carlyle, Josh Dallas, Jared Gilmore), Jensen Ackles and Jared Padalecki of Supernatural, and many actors from the shows Stargate SG-1, Stargate: Atlantis and Stargate: Universe, such as Amanda Tapping and David Hewlett. Many of these actors have spoken publicly about our cause and I know many would go to bat for us here. These are actors with hundreds of thousands of followers around the world who can spread the word far and wide.
If you would like to read more about my son Trey and our journey, you can do so here: www.treypurcell.com. My personal twitter handle is: @purcelldeb and the twitter handle for our fundraisers is: @onceuponacure.
Here is what I know and where I’m at:
1. J&J has the money to fund a clinical trial for Elmiron, a drug that they manufacture, in MPS
2. J&J’s decision not to fund this trial is unethical and immoral (http://www.treypurcell.com/blog/2013/02/22/johnson-johnson-indifferent-unethical-immoral/)
3. From research I’ve done, J&J has a squeaky clean image that people associate with babies and families and a company that takes care of babies and families
4. There is nothing more important than our kids’ lives. Because our kids are dying fast, MPS parents have learned to fight harder than anyone else in the world. We are warriors and survivors. You have just taken on the toughest crowd in the world.
5. The MPS community has media and celebrity connections around the world, nothing to lose, and we are facing a company that tells the public how moral and ethical it is, when in this situation nothing could not be farther from the truth.
This effort is only going to grow. We have not yet reached out to media or our celebrity friends. These are our next steps and we are not giving up. Please do the right thing. It will save us all time and effort. Please feel free to contact me if you have any questions.
Sincerely,
Deb Purcell
 

On Wednesday, February 20, Johnson & Johnson (or more specifically, Janssen Pharmaceuticals, who is a company of Johnson & Johnson) told Andrew McFadyen of The Isaac Foundation that they would not fund a clinical trial to explore the effects of a drug they manufacture, Elmiron, on children who live with MPS. You can read my last blog or Melissa Hogan’s blog for more information.
That afternoon Andy began a website to bring public awareness to J&J’s disregard for humanity: http://www.shameonjnj.com/. The website received over 2,000 hits in less than 12 hours. J&J has also been checking in on the website, spending less than 3 seconds per page on our kids’ stories, but instead focussing on the comments and feedback (yours is welcome, J&J is obviously paying attention!). By Friday, February 22, Andy had a response from Janssen/J&J, you can read it here. Andy’s response is here.
A press release will be issued next week throughout North America. Stay tuned! Rare diseases may have a lot of things working against them, but two things that MPS does have going for it is community and motivation. We are family and we will fight; from Vancouver to Toronto, Chicago to Tennessee, and North Carolina to California.
We are also putting together a document of frequently asked questions, to address questions we’ve received to date.
I cannot express in words my gratitude for your support over time, for our fundraisers, for our family, for MPS. This cause takes time away from everything else you do in life and I want you to know that we recognize that. Although J&J’s responses to date have been incredibly disappointing, my heart is full from all your love and support. Thank you.
Below are some further comments of support:

“When a company that pretends to care for the common good and clearly demonstrates, through their actions, that they only care about profit, they deserve to be boycott!”

“Dear people who care about kids: Johnson and Johnson holds the key to a potentially life-changing drug that could transform the life of one child I know. Please write to them, call them, and ask them to move this drug into a clinical trial!”

“This is where capitalism really fails. Finding ways to help those in need should be of utmost importance to all of us including pharma, regarless of profit.”

“If you ever wonder about how corporate structure affects how we care for the people in our communities, this is an excellent example. Letter writers, start your keyboards!”

This is a picture of Ryan, Trey, and I moments after Trey’s birth. If you are a parent, you can probably remember and feel that moment, what it was like to become a mom or dad.
In my blogs I often invite you to ‘imagine.’ Imagine getting told that your daughter or son has MPS. That her hands would curl so she can’t do up buttons, that his bones would become increasingly deformed so he would stop growing, that her joints would stiffen so she can’t swing on monkey bars or open door handles, that his heart and airway would become compromised, at some point so severely, that it would likely be the cause of his death by age 20, but not before her cognitive abilities would decline so you would have to watch her forget all the beautiful things she learned, that you remember cheering with excitement over when he took his first step, ate her first bite of solid food, said ‘mama’ for the first time.
You might not be able to picture your child in this situation, but if you have compassion, you can feel that suffering, that pain.
Johnson & Johnson has made is clear that they do not. Or at least they will not.
A number of years ago, Andrew and Ellen McFadyen of The Isaac Foundation discovered some really exciting MPS research going on at the Mount Sinai School of Medicine in New York led by Dr. Calogera Simonaro, and they began funding her research. The drug used in this research is an FDA approved drug called Elmiron (also known as PPS or pentosan polysulfate), manufactured by Johnson & Johnson (J&J). Now, I’ve been hearing about this research through Andy and Ellen for a few years, but the proverbial shit didn’t hit the fan until this past year when data from Simonaro’s research was presented at conferences around the world. I can only speak to the conference I was at, but the impact of MPS families seeing Dr. Simonaro’s research was like being in a riot. It was crazy, emotional, overwhelming, BIG.
Dr. Simonaro showed slides, presented data, and played video footage of rats who began receiving Elmiron in utero and at three and six months of age. I know I will never forget seeing those videos. As a parent to a child with MPS, all we hope for is that our kids won’t get worse. We don’t want them to die. We have accepted where they are at NOW. Although we pray for a cure, just stopping death is a miracle.
So when Dr. Simonaro presented video footage of untreated MPS rats at 6 months old (which equates to an 18 year old in human years, near death in children with MPS) who were so severely affected that they could no longer groom themselves- their teeth had grown out of their mouths, they could no longer stand on their hind legs, they could barely walk let alone run, they had secretions running out of their eyes and ears- to put it bluntly they were a mess, and then she presented video footage of those same rats, who after three months of Elmiron appeared in Dr. Simonaro’s words ‘NORMAL’, parents at the conference went nuts. They began calling families at other conferences, talking to drug companies, people were gathering their money, having secret meetings to try to figure out how to get this drug into an MPS trial NOW and/or how to get this drug into their kids yesterday. If you saw this video footage, your mouth would drop too. I’m not joking. Although Elmiron is not a cure, it sure looks like one. It’s beyond an MPS parent’s wildest dream. It’s a show stopper.
Andy and Ellen, however, had been watching this research unfold for a while. They knew the details of the research, the drug, the companies and doctors involved, and they had already been working on getting a trial funded. At this point you may wonder, if Elmiron is already an FDA approved drug, why would these parents not ask their doctor to prescribe Elmiron off-label? Melissa Hogan has posted a blog about why a trial is necessary and reasons why prescribing Elmiron off-label is problematic. You can read it here.

So now picture Andy and Ellen reaching out to Johnson & Johnson to fund a clinical trial in MPS patients and J&J saying no. To be clear, The Isaac Foundation asked J&J, a company whose worldwide sales for 2012 was $67.2 billion dollars (you can read the report for yourself here: http://www.investor.jnj.com/releasedetail.cfm?ReleaseID=734718), to put forth $1 million dollars that could potentially save the lives of thousands of children. Literally save.
At this point I want to introduce a few definitions, all provided by Wikipedia early yesterday morning:
Empathy is the ability to recognize emotions being experienced by other beings.
Compassion is the ability to understand and feel another being’s emotions. The etymology of “compassion” is Latin, meaning “co-suffering.”
Ethics is “a set of concepts and principles that guide us in determining what behavior helps or harms sentient creatures.”
Morality is the differentiation of intentions, decision, and actions between those that are good, or right, and those that are bad, or wrong. Amorality is variously defined as an indifference toward any set of moral standards or principles.
I also looked up some antonyms for ethics, morality and compassion. They are: indifferent, cruel, merciless, corrupt, immoral, unethical, dishonest, sinful, evil.
After looking up these definitions, I went to Johnson and Johnson’s Canadian website (http://www.jnjcanada.com/). They state: Our responsibility is to: our communities, mothers and fathers, doctors, nurses and patients… etcetera, etcetera, etcetera. You can go to the website and see for yourself! Their logo is a picture of a baby (how many of you use Johnson & Johnson’s baby shampoo on your kids’ hair and how many of you remember your parents using it on you as a kid?). If you click on over to their ‘Our Values’ page (http://www.jnjcanada.com/our-values.aspx), it’s impossible not to laugh because of the irony. J&J claims to be socially responsible, good citizens, they claim to have a moral compass, respect, and they claim to offer equal opportunity. I also clicked further to read their Credo.
The unjustness, the dishonorable and shameful way in which Johnson & Johnson has treated our kids and our families led me to ask myself: how can they act like this and still sleep at night? And still feel human? I’ve realized it’s because they’ve separated themselves from us. They have created an ‘us’ and ‘them.’  They may or may not have the empathy to recognize our pain, but they do not have the compassion to feel it. ‘This’ would never happen to ‘them.’ They have made us ‘less than’ in their eyes. That is what has allowed them to sleep at night knowing they could likely save our children’s lives, but have instead sentenced them to die. Because we are sub-human. It’s sad. I’m sad to be part of a world that treats other sentient beings with such disregard.
It also makes me wonder: if J&J treats children and families who live with MPS with such disregard, how do they act towards other groups that have also, at least historically, been treated as ‘sub-human’: women, people with disabilities, the elderly, people who are gay and lesbian, people of colour? I also wonder about the doctors involved in this decision. Are they not breaking their oath to ‘Do no harm?’
Johnson and Johnson was given a chance to be a hero, to be a savior. It’s too bad. They really would have been heroes in our eyes. I am glad to know, however, where Johnson & Johnson stands on such issues, for now I know never to buy a J&J product again.
Families affected by the decision of Johnson & Johnson not to fund a trial have taken to social media to show their displeasure and corral their support. The not-so-subtle ShameonJNJ.com tells the story of many children whose families are interested in such a clinical trial and allows others to add their stories. Families are also tweeting to @JNJComm and also with the hashtag #shameonjnj.
This is an issue to watch.

It is quite strange to see the last few years of your life boiled down to a few paragraphs of text and a line on a chart. It is even stranger to see a miracle penned as such. Earnings calls and journal abstracts simply cannot convey the joy and wonder of this journey, or even its worry, heartache, and stress.
Those were our thoughts upon reading recent public statements about the clinical trial. It wasn’t bad per se, just very, very surreal.
This past week, Shire, the pharmaceutical company that sponsors the clinical trial that our kids are in, held its earnings call about its Fiscal Year 2012 financial results. These earnings calls are publicly accessible calls between the executives of a public company and certain investment representatives. Soon after, a transcript is generally available.
It was reading that transcript that revealed several tidbits of information. First, more specific results of our trial would be presented at an upcoming meeting of the American College of Medical Genetics. Second, a Phase II/III trial for the drug is still on course for the second half of 2013.
However, the call also unfortunately revealed that for their MPS IIIA (Sanfilippo Syndrome) drug, because of the wide variety of patients, many being advanced in the disease, they could not show clear clinical impact and thus for MPS IIIA, they were moving to a Phase IIb study instead of a pivotal Phase II/III which is more likely to be one that is needed to prepare for FDA approval. So for MPS IIIA, it unfortunately feels like the wait for FDA approval could be longer unless Shire elects to seek the accelerated approval pathway (for example, see What’s Next for Sarepta Therapeutics Inc (SRPT)? and Sarepta likely to face uphill battle if it seeks accelerated approval for eteplirsen in Duchenne’s). For the entire text of the earnings call, go to Seeking Alpha (free registration required for full text); for the entire presentation, go to Shire’s website.
We thought this information was too important to our community to be shared by our backdoor, private Facebook group channels. Not everyone trolls these groups much less earnings calls or meeting schedules, so if the information is out there in the public domain, then it might as well be out here in our community.
Excited about the prospect that more specific data about the trial will come out next month, we hopped on over to see when the data would be presented. There we were lucky enough to find an abstract of the presentation. The abstract entitled Cognitive Performance in Children with Hunter Syndrome Receiving Investigational Intrathecal Enzyme Replacement Therapy by Stein et al., specifically notes:
Longitudinal assessments using the Differential Abilities Test 2nd version (DAS-II) were obtained in 5 patients, with follow-up times varying from 6 months to 24 months. Four of these patients, who received 10 or 30 mg idursulfase-IT, showed a stable or higher General Conceptual Ability standard score of the DAS-II. In particular, one child with a family history of severe Hunter syndrome maintained his score for up to 2 years after initiation of intrathecal enzyme replacement therapy.
It is exciting data, we suppose, to other scientists and physicians who may not have seen it firsthand (or read this blog!). Considering the many drugs that work in animals but may not go on to work in humans, it really is amazing.
We so look forward to the beginning of the MPS II Natural History study at UNC, Chicago, and Oakland so far (several friends are preparing to enter that), along with the next phases of the MPS II and MPS IIIA studies later in the year!
Cross-posted on Saving Case

Trey was diagnosed seven years ago tomorrow, Valentine’s Day. His 9th birthday is only two weeks later, on March 1 (he’ll be at UNC on his birthday). These anniversaries, and so close together, lead to contemplation. That I’ve had a kid for close to nine years- almost a decade!? I showed Trey pictures of me pregnant with him nine years ago and pictures of his birth and first year of life. It feels like a lifetime ago. He was the first grand baby in the family, so the wild and crazy and chaotic family get together’s we’re used to now, were quiet back then. I’ll never forget when, a few minutes after Trey was born, all the nurses and doctors and family left the hospital the room and Ryan and I looked at each other, both wondering why they would leave us alone with this infant, whom we obviously had no idea what to do with.
I think about the fact that Trey has spent 7/9’ths of his life, the vast majority, facing MPS II. I mean, he’s always had MPS II, but he did have two years as ‘just’ a ‘kid.’ No needles, no line ups of tests, no general anesthetics, no surgeries. And I had 2 years as a typical mom. I don’t really remember what it was like to be a typical mom, I’ve been a dragon mom (http://www.nytimes.com/2011/10/16/opinion/sunday/notes-from-a-dragon-mom.html?_r=0) for so much longer.
In the past couple of days, some mom friends of mine have posted articles that I think are worthy of sharing. They speak to the power of motherhood. They are not pretty and pink, they are real and honest, but as you’ve gotten to tell over time, I like real and honest. Although it’s not Mother’s Day, this dual anniversary of Trey’s diagnosis and birth remind me of what it has meant to become a mother. To all the mother’s out there:
http://www.renegademothering.com/2013/02/09/i-became-a-mother-and-died-to-live/
http://www.whatiwouldtellyou.com/weblog/this-road/
And just in case you missed Sunday’s Globe & Mail article regarding drug company giant Johnson & Johnson and the power they hold to have a MONUMENTAL impact on MPS, check it out! I have a small ( ;-)) opinion on the matter: http://www.theglobeandmail.com/life/health-and-fitness/health/the-agonizing-fight-for-isaac-the-hope-and-the-hurdles/article8395379/
The above picture is of Trey, Avery, and Sadie with Canuck Max Lapierre. They got to ‘Skate with the Canucks’ this past Monday. As we were skating around the rink holding hands, Trey, who tries to skate with those metal or plastic bar supports every chance he gets, but could not on this day due to there being none, told me ‘Mom, I’m a skater! Mom, I’m a skater!’ Yes, Trey, yes you are. I love you!

This time of year always brings forth emotion. Mine has been brewing for a bit, but with only two sleeps away from Santa, it’s now here. Our kids are SO excited. Every morning Trey wakes up and asks if Santa came last night and every morning Avery races for the advent calendar to count how many more days until Christmas. With this year coming to a close, thoughts of how the past year went and thoughts of how next year will go, come to mind.
Every day before I meditate I contemplate 4 preliminary practices: 1. The preciousness of human birth, 2. Impermanence, 3. Karma, and 4. Samsara or the cyclical nature of life. I think about how fortunate I am to have had the opportunity to birth three children. That Ryan’s mom gave birth to Ryan, helped to raise such a caring human being, and that I got to meet him and become his life partner. I am grateful to my grandparents who survived (and I mean survived; Omi fled Vienna from the Russians who were raping and killing Austrian women, and my grandpa escaped death during WW II when the family photos in the chest pocket of his shirt protected his heart from the schrapnel that exploded in front of him) the war. I am grateful to my parents who made it possible that I am here today with the capabilities I have. I am grateful to my sister, my extended family, my friends and my community, Trey’s doctors and nurses, and all those who have shaped me into the person I am today. I could not be here, doing what I’m doing, without the support and love of many many people. That’s what I think about when I think of the preciousness of human birth.
When contemplating impermanence… well, I imagine you can guess. Trey is 8 year old. He’s almost nine. In severe MPS years, that’s like 80. This past year I had my first experience of finding out that a child I have met, who is Trey’s age, passed away from MPS II. There are other boys who were diagnosed around/with Trey, whose families have decided against necessary surgery because the surgery is just too risky. These are people who share my heart with me. I have another friend whose husband passed away last month. She has a son with MPS II and a daughter. Impermanence. Although MPS families may have to face this more often, impermanence is a reality. It doesn’t escape any of us. Next Christmas will not be the same as this one. Today won’t be the same as tomorrow. Contemplating impermanence is not meant to depress us, but motivate us. I intend to make the most out of today and every day. Especially at this time of year, I am grateful to be reminded of impermanence so I can love and hug and be present, free of regret.
With karma I think about how to increase awesomeness in the world (random acts of kindness, which are LOADS of fun) and with samsara, I think about how I can break my cyclical bad habits.
It’s not an easy path, I still get frustrated and then get frustrated with my frustration, I have said things that are not mindful, and I start to dwell on those failures (though through meditation I have learned to recognize those thoughts that can play on repeat over and over and over, and let them go). The cool thing about this path though is that patience includes ourselves! So, I find patience for myself and get back up and start again. Every moment is a chance to begin anew. I also recognize that before Trey was enrolled in the IT trial, I may not have been able to get on this path. For four and a half years I was in fight or flight mode. I worked to find peace during moments, but I wouldn’t have been able to contemplate impermanence or entertain complete inner peace without being crushed by overwhelming emotion. I just couldn’t go there. I am grateful that I am in a place now where I can.
I am also liking this path because at this time of year, although I have not been perfect, I have done my very best to make this world a better place, I have enjoyed life, and I am grateful for everything and everyone I have. This path feels awesome.
And last but not least, I have a wonderful bit of news for you: this past week our MPS II Research Fund received over $5,000 in donations. This amount of thoughtfulness and generosity gives me the fire I need to remain on this quest to find a cure for MPS II. Ryan and I, and all the other families affected by MPS II, are not alone. There are hundreds of people standing behind us, giving us the support we need to keep on going. Thank you.
With wishes for a holiday filled with contentment and love,
Deb

This morning Trey received his fifteenth dose of intrathecal enzyme at UNC. This evening I watched a video made by the National (US) MPS Society called ‘The Journey of Hope’ that I want to share with you. Please do take 12 minutes to watch it. If you’re having a rough day and need some perspective, watch it. For me and for you and for MPS and to make our world a better place, watch it.
[youtube]http://www.youtube.com/watch?v=YRlAvub45NI[/youtube]
This holiday I am grateful for everything I have because it is a darned lot. A darned lot. Trey’s great-grandma, Omi, is in such great shape that she was able to accompany us on this month’s trip to UNC and share personally with Dr. Muenzer what a miracle this intrathecal enzyme is. A week ago I got a report  stating that Trey’s nerve conduction tests are ‘normal.’ Trey has only ever had severe carpal tunnel syndrome, he’s had two surgeries as a result, and I was told to never expect a different result. I do have a few questions before I get really excited, but I saw ‘normal’ on a test regarding my child who has a progressive disease. His disease is going backwards. Two weeks ago, Trey swam on his own, without any assistance, and this past weekend, he played goalie in his soccer game. Trey’s brain is being re-wired due to these monthly trips to UNC. I am just so grateful for life.
Happy Holidays and with much much love,
Deb
PS. That’s Trey’s Rudolph above. 🙂

Today was a packed with appointments for Trey. I LOVE it. Usually we travel the 45-60 minute distance across town to see various departments individually- not far compared to some of y’alls travels I know (I’m taking on parts of the southern accent due to our repeat travels to UNC ;-))- but when you see the cardiology, ear nose & throat, biochemical disease, genetics, orthopedics, sleep, plastics (for hands and carpal tunnel syndrome), opthalmology, rheumatology, and neurosurgery clinics yearly for check ups, in addition to ultrasounds, EMG, weekly IV ERT and monthly trips to UNC for IT ERT, reducing our trips to BC Children’s Hospital and increasing our quality of life is a BIG deal.
Most of our news is decent. Cardiology: Trey’s echocardiogram showed an increase in aortic valve regurgitation/leakiness, which is the bad news. In my layperson’s understanding, Trey has mitral and aortic valve thickening- he’s always had mitral valve thickening (ever since he’s been tested at around age 2), his aortic valve has thickened over time. This is due to the build up of GAGs (the cellular waste Trey’s body builds up due to the missing enzyme in his body) on his valves, the buildup makes them thicken. Due to this thickness, his valves don’t close as well and therefore leak. If they become too leaky, this causes enlargement of the atrium, which is no good. On a scale of +1-+4, Trey’s regurgitation is at a +1. It’s not really bad, it’s just progressed. We are no where near blood pressure meds at this point, which would reduce the pressure on the left side of the heart- which is why you see issues develop there first, because there is so much more pressure on the left than the right- Trey’s regurgitation would need to be +2-+3 before considering BP meds. It is my hope that with IV & IT treatment, we can stabilize Trey’s heart and not have to go there. So, bad news, but still living life fully (he has no symptoms or outward effects of his valve thickening or valve regurgitation) and holding onto hope.
ENT was great. Trey’s left ear tube fell out after years of being in, a few monthes ago. The whole reason he got tubes in the first place (at the age of 22 monthes, even before his MPS diagnosis) is because every time Trey got a cold, fluid would build behind his ear drum and not drain (in you and I, fluid builds during a cold and then drains out afterwards). This stagnant fluid would sit and get infected. So, we got tubes put in to drain the fluid. Trey has had three sets of ear tubes because each time the tubes fell out, he would eventually get another cold and a guaranteed ear infection. Trey’s had three colds since his left ear tube fell out and somehow, with some stroke of wonder, Trey’s left ear has figured itself out and found health on its own. Yahoo! We might just be walking away from the need for ear tubes. He right ear tube sounds like it’s working its way out- it has debris on the flange, which will likely develop and push the tube out.
EMG (aka. Electromyography) & Nerve Conduction Testing: Trey is followed by this department to test the nerve function through his carpal tunnel. As Trey has never had a normal nerve conduction test (he’s had two bilateral carpal tunnel releases due to the build up of GAGs and resulting squishing of the nerve in his carpal tunnel), we know he has carpal tunnel syndrome. The reason we test is to find out if this result is the same, worse or slightly better (we’re not even hopeful for normal- at least in Trey and many other MPS folks I have heard from, it seems that once you get an abnormal result you will always have an abnormal result) than before his last surgery, which was in January of this year. We test Trey yearly to get enough data points to make educated decisions for how to proceed. As no doctor I know has performed three releases, we will be cautious. Based on past conversations it sounds as though we might wait to see physical manifestations (dropping things, trouble with holding pens, forks etc.) before entertaining surgery again because Trey’s test results are so abnormal and we’ve never seen a difference in function from before to after surgery.  We wait two weeks for the report.
Biochemical Disease: We saw Dr. Stockler for an update on getting intrathecal doses at BC Children’s Hospital so we don’t have to fly across the continent for monthly doses. I don’t have a lot to update on this, but we are working on it.
Thanks for checking in!! Above is a little MPS II buddy of ours, Matthew, from Alberta, wearing Trey’s shirt!
Lots of love,
Deb
 

I went to a yoga retreat last week (we’ve dubbed it ‘yoga camp’- it was the first module of yoga teacher training). I was really excited and at first told many people about what I was going to do, but many of the people I talked to weren’t supportive. How could I leave my home-schooled children during the school year, how could I do that to Ryan who already works so hard- in a nutshell, I got the message that I was neglecting my duties as a mother and wife, so I just stopped talking about it. Now I’m posting a blog about it. 🙂 You might ask me why I’m writing about yoga camp on a blog about MPS II, but for me, they are closely interconnected.
In 2010 during the Vancouver winter Olympics, yoga was free at a local studio. After not having done any form of exercise since Trey’s birth in 2004, I thought I would give it a try. I wanted to get some exercise and get back in shape. Two years later, yoga is an integral part of who I am.
I do yoga when I’m feeling great and want to play. Adults in our culture it seems, take life very seriously. Seriousness is valued. We have responsibilities to provide for our families, so we should be serious. Having a son with a progressive and rare disease also adds a huge dose of seriousness to my life. Yoga is a break from serious. I can jump and fall on my head and laugh. No deadlines get missed, no one dies. Playing and laughing are FUN. I had forgotten just how much fun. Yoga brought fun back for me.
I also practice yoga when I am so scared that I have trouble knowing how to go on. When Trey was under general anesthetic at UNC back in August 2011 and I was waiting to find out if Trey would qualify for the intrathecal trial he is currently enrolled in- basically waiting to find out if he would qualify and live, or if he would be disqualified and left to die- I did yoga. Yes, in the corner of the hospital waiting room. In yoga there is one breath per movement, so when you’re focusing on that, it’s hard(er) to think about anything else. Yoga is how I clear my mind and let go, even just for a few moments at a time, emotions that are so intense and scary that I can’t put words to them.
Over the years I have come to my mat to play when I feel strong, to heal when I am sick, and to release and let go when I am scared. Yoga has become part of who I am and helps me discover who I want to become. Recently I got to a point in my practice where I wanted to learn more, so I went to yoga teacher training.
What I learned was life changing for me. I have always tried to find the positive side of a situation, but over time I guess I had come to believe certain aspects of myself, facts about life. I had accepted that I am a planner. I am an organizer. I am a thinker and an A-type personality. In life, this meant that while I was reading a story to the kids, I was thinking about who I had to email or what activity I had to sign the kids up for in the winter. I had also accepted that we all suffer. Unless you’re enlightened, that is true, but we do have the ability to choose how much we suffer. I learned that if we are truly present in a moment, all negative emotion falls away. If we let go of ego, there is no suffering.
I spent a great deal of last Saturday working with this idea in my head. Is it possible to not suffer if our child is dying? If someone dies suddenly, we grieve and move on. I can work with that. But if we spend a large portion of our lives watching our children lose their skills, abilities, personality, etc etc etc, is it possible to increase our happiness and reduce our suffering?
I don’t know if I will ever get to that point, but one of my teachers suggested not to jump so far ahead to thinking about death and if I can possibly not be ruined by it. She suggested to start now and take small steps. When I am with Trey, be in the moment. Live that moment with Trey (or anyone else). My mind may take me away from the present with fearful thoughts of the future (or less fearful, but no less disruptive, thoughts of future to do lists), but if I can catch that thought, let it go, and bring my mind back to the present, I will be happier.
This idea, as a mom whose child has a progressive disease, is life changing for me. I can stop the incessant thoughts. I can choose to be present and be happier, whether it’s feeling the water on my hands as I wash the dishes, feeling the taste of food in my mouth, or reveling in the feeling of a hug from my child. This means that I forgot who was taking the kids to gymnastics Friday afternoon and forgot Trey’s community worker was coming over this morning and led Ryan to laugh and comment that I’m not actually perfect! But I’ll trade that for more happiness any day.
I thought this was worthy of sharing with you. I’m not sure I’ll ever be enlightened, but the baby steps on the path in that direction sure can feel a lot better. Some people may tell me I am neglecting my duties as a wife and mother, but I disagree. I am becoming a fuller person so that I can better serve as a mother, wife, daughter, friend, neighbor, and hopefully, that will have an impact on the world. Thank you to all of you who were a part of it and to everyone who helped make this possible for me.
Be patient. Be grateful. Be mindful. Be present.
Thich Nhat Hanh – “The miracle is not to walk on water. The miracle is to walk on the green earth, dwelling deeply in the present moment and feeling truly alive.”