But I do want to share this video because I met this amazing and wonderful family in 2008 at the International Symposium in Vancouver and because I want to acknowledge all the families who don’t have the choice to not go there.

Click here to view the embedded video.

International MPS Awareness Day is May 15.

This episode brings forth bittersweet feelings for me. Once Upon a Cure was an unforgettable event. I poured my heart and soul into that event. I put every ounce of everything I have, for Trey, into it. Hours and hours of sweat and tears, with the mother’s dream of finding a cure for her child’s progressive disease. And it was worth every effort. We had more celebrities attend and more media attention than any of our past events. Thanks to our spokeswoman, Amanda Tapping, and other celebrities who joined our cause, together they helped spread the word farther than I ever could have on my own. We also raised double that of any of our other events.

However, only weeks after the gala, Trey began his participation in a phase I clinical trial in North Carolina that puts the enzyme he is missing into his brain, once a month (since he was two years old, he has been getting the missing enzyme infused into his body once/week, but that treatment does not help the central nervous system). His participation involved a minimum of ten days/month at UNC for the first six monthes. There was no way I could have organized another event during this time. This coming month, May, begins a new extension phase of the trial which necessitates only 5 days/month in North Carolina. So, while I am indescribably thrilled with the effects of this drug on his brain (I’ve never had cancer, but it sounds comparable to being diagnosed with cancer and being given only a few monthes or years to live, only to find out some time later that the cancer is gone- it’s not exactly the same, but I was given only years with Trey, and now, that timeline has now been removed), I am also saddened to not be able to follow our first extraordinary Once Upon a Cure gala, with another.

In the next days and weeks I will be collaborating with some wonderful, motivated, and generous people regarding what’s next for the MPS II Fund and Once Upon a Cure. I’ll keep you posted!

In the mean time, I hope you can find some time to watch The Cupcake Girls’ ‘I’m Late! I’m Late!’ episode next Wednesday, May 2 at 8pm ET/PT, for a glimpse of what our Once Upon a Cure Gala was like. I’ll be watching it, with happiness and gratitude for all we accomplished. Thank you to everyone who was involved, and this week, especially to Lori, Heather and The Cupcake Girls!! To learn more about The Cupcake Girls, you can go to their website (http://www.wnetwork.com/cupcakegirls) or follow them on Twitter (@TheCupcakeGirls) and Facebook (http://www.facebook.com/thecupcakegirls).

My good friend, Melissa Hogan, has published a new book. Although it is titled ‘Medical Events with Cognitively Impaired Children’, as she comments herself in the book, I think her insights are relevant for any child who has repeat medical experiences, not just those who are cognitively impaired.

A few of the things she speak about are:

1. The difference between how many adults approach medical events and how those approaches may differ from the approach that our kids need

2. Medical trauma and how to prevent it

3. Parental emotion and how we set the tone for how our kids respond

4. Play therapy: playing with (or being given the opportunity to examine or touch) the anxiety causing equipment or doing the procedures on family members or dolls (all needles removed of course )

5. How to normalize stressful medical events

6. How to give kids as much knowledge and choice over timing of medical tests or procedures (even if they just get to count to three before the needle goes in), location etc., so they feel more in control.

Even though I’ve been doing this medical routine for over six years now, Melissa’s book still gave me food for thought. And leaned on my heartstrings. I got permission from Melissa to copy a small excerpt below, which hit especially close to home since right now Trey is getting monthly general anesthetics with a mask:

‘But it is then that I have to do the thing that I hate the most. I and others have to hold that mask on his face while his eyes scream, his arms try to flail, and his mouth seems to gasp for air. All of my insides feel as if I am suffocating my child by continuing to hold this mask on his face.

But then I start to sing.

I don’t pretend to be a glamorous rock star or opera master, I am but a simple mom. And as I hold the mask over his thrashing face, I sing, “You are my sunshine, my only sunshine. You make me happy, when skies are gray. You’ll never know dear, how much I love you. Please don’t take my sunshine away.” I almost choke up at the end every single time at the irony of the fact that in a moment, they will take him away as I walk that dreaded walk to the waiting room.’

Thank you Melissa, for your continued insight.

For more information on her book, please click the link below:

http://www.smashwords.com/books/view/148011

What amazes me about him is that this past Friday, Trey had a general anesthetic (part of end of study tests- I’ll post results when I have them) that for 24 hours afterwards was dizzy and groggy and out of sorts from. Yet today, when Trey went back for his sixth intrathecal dose of Elaprase at 2:45pm, to go to sleep yet again only three days later, after knowing what’s to come, he still did it amazingly well. He wasn’t thrilled about it, but… mature. After not having had anything to drink or eat since the night before, Trey walked back to the bronchoscopy suite and lay on the OR table without aid, with all the equipment around (which I personally think can be intimidating), while the nurse anesthetist set up his pulse ox & BP cuff, while the team did their ‘time out’, and for the duration of the time it took him to fall asleep- in total about 10 minutes- without fuss and chatty as ever.

When Trey woke up from his general (his white count was again 1, which means no reaction or infection, yahoo!), he shivered for about 15 minutes. He just looked awful and cold and uncomfortable. It was so hard to watch, especially the second time in a week, and even more, because he didn’t choose this. I did.

After recovery & back at the Shore Stay Unit for the night, we visited with another family whose son just had an intrathecal port placed and another family whose son’s intrathecal port is broken and will be replaced in the next weeks.

All of this is a lot for a kid and family (extended family & friends as well- we’ve met some amazing extended family and friends while here and have a bunch of our own) to handle. But you know what makes this all worth it? As Dr. Muenzer walked me out to the waiting room after Trey was put to sleep for his dose today (I’m still working on him to let me watch it all ), he commented on Trey’s vocabulary and his ability to have a conversation. This is man who, for his entire career, has watched 2/3 of kids with MPS II lose their skills and decline- what would have happened to Trey. He also told me that the doctor who does Trey’s lumbar punctures every month, who was part of the conversation about Modern Family and Bubble Guppies and chicken burgers back in the Bronch Suite, referred to Trey’s development and changes as ‘remarkable.’ Over the past few days, Dr. Muenzer has run into multiple people who have commented on how amazing Trey is doing. And it’s not just Trey.

This trial is changing the face of Hunter Syndrome. All of this stress and time away from home… it is so very worth it. For all our boys.

As an aside, just to keep us on our toes, Sadie developed a fever of 102F Saturday, so my mom and I had the pleasure of isolating her in a hotel room for 3 days and sanitizing doors, walls, bed sheets, handles, bodies & dishes, so Trey wouldn’t catch her flu, and Avery swallowed a penny Sunday night that hasn’t yet come out (we’ve been looking!), which we’ll deal with upon our return home.

Click here to view the embedded video.

At home I’m organizing playdates & hockey games, meal planning, mediating sibling squabbles, life learning…. at times my mother bear personality comes out, when Trey has surgery or when someone is mean or rude to my children, but with two other kids and life, most of the time, that life is relatively mellow. At least compared to down here.

In North Carolina, I have one child and LOTS of MPS. Sure, I still meal plan, but even that is dominated by MPS: what meals are easiest to eat cold in hospital or transfer from hotel to car to long walk from rental car to hospital best. I think MPS (I’ve been waiting to read ‘Under Pressure’ by Carl Honore, but instead find myself reading about antibody development in intrathecal therapy in MPS I dogs), talk MPS and hang out with MPS families. And MPS is dominated by strength, ferocity and the protection of my child.

In the past week and a half, we have hung out with more MPS II families than I have ever hung out with in my entire life. Last week a 7 YO got dosed with us and a 4 YO went through qualifications for the trial (that was emotional!). This week, a 9 YO who qualified for the trial, but randomized to no drug, was here for baseline testing. Another boy is in the hospital getting his 2^nd dose of drug. And yet another man, who is not in the intrathecal trial, but was the first person to participate in the ERT trial for MPS II, who relocated to NC for the trial, has been hanging out with us, whether in hospital while getting his weekly ERT or coming for dinner to the hotel.

It’s indescribable, being here. It’s like I’m a completely different person. It’s really intense and really wonderful at the same time. The intense part is pretty straight forward. Our kids are dying. I’ve met kids and men at all different ages and stages of the disease. Toddlers losing their skills and language, kids Trey’s age who are non-verbal, adults who are cognitively fine and doing well. All of us, fighting for life. This trial may just save them. At the very least it buys us more time.

The really nice part is that I don’t have to explain. At home I do a lot of explaining. Here, I don’t have to. Ever. Not why Trey did this or said that or has hearing aids or ANYTHING. It is SO relieving. It reminds me of being a new mum. You’d go to the park and get personal with someone you’d just met about diapers or sleep or feeding and the list goes on. There’s an instant connection and immediate relief, probably because of the intensity of being a new mum. I don’t get that connection with MPS at home.

In addition, not only do these MPS families already know my life and I don’t have to explain, but they love Trey. I LOVE that. All of Trey’s quirks and differences, well down here, they make Trey even cooler. Trey is a rock-star and it feels great.  Here Trey can be free and do his thing and I can relax. Because the other kids are doing the same thing and the other mums and family members don’t even bat an eye.

At home I connect with my friends over similar values and beliefs. Here I connect with my friends over MPS. At home I have many layers. Here, I am a Mother Bear.

Ever since Trey’s diagnosis, I’ve been fighting MPS II. Mostly the ‘brain is affected’ part of MPS II- I can accept that my child will have physical issues, but I cannot accept that my child will die before me, during which time I will be forced to watch him lose his skills and personality- but when you don’t know if your child’s brain is affected, they’re one and the same.

When a child with MPS II gets diagnosed, unless they have obvious cognitive delays and behaviours, it is unknown ‘if’ their brain will be affected. This can lead to a lot of… disharmony. Until you know definitively which path your child is taking, you are basically praying/begging/hoping their brain is okay. Before we knew which path Trey was on, I hoped that any ‘behaviours’ I noticed were Trey’s and not a result of his brain being affected. For example, Sadie screams for hours a day (I’m not joking, she’s like a colicky infant the majority of days, one who leads us to get regular stares in public), fighting tooth and nail to do things herself; when, how, where and why she wants to. Avery is… quick, to become angry. He can go from happy to ‘I want to stab you in the heart with a knife’ in a millisecond. However, because they don’t have MPS II, I know those qualities are theirs and not an indicator that they are going to die between 10-20 years of age. I know that it is my job as Avery and Sadie’s mum, to help them learn how to take a deep breath, cool down, and use words, respectfully.

With Trey, however, it’s been a little more complicated. For six years of Trey’s life (he’s almost 8, but was diagnosed just before his second birthday), I’ve been fighting part of Trey. For four and a half years after diagnosis, all I did was hope and pray, and work, to the best of my abilities, with what we hoped were Trey’s own personality traits. For me, any behaviour (even accidentally peeing the bed at night or a hit to Avery because Avery grabbed a toy) that ‘could’ indicate brain decline sent me into panic/fear mode, and as a result, would lead me to do almost anything to quell the behaviour.

Then we found out Trey’s brain is affected and we realized that some of his behaviours were those of cognitive decline, not his own. BUT, there was this trial that gave us hope. So, for the next year, we dealt with increasing behaviours, hoping that Trey would get into this trial that would help him get better. Now he’s in the trial, and I’m still fighting.

Trey and Ryan came home from UNC yesterday. When Trey gets excited or has been inside & mellow for too long, he gets… I like to say, antsy. It is obvious he needs to run around or go outside. He’ll start spanking you, bumping you, drumming or hitting anything (counters, pots etc.) with drumsticks or anything else he can find, ALWAYS close to you. If you’re not used to it or if, as a parent, babysitter, family member or friend, you’re trying to correct it and model ‘appropriate’ behaviour, those acts often get… annoying.

I’ve been thinking about this a lot recently. What constitutes ‘appropriate.’ I read a post on Facebook by a dad whose son has MPS III: “Love this little guy, I don’t care if he never progresses past a three year old and I watch Dora for the rest of my life. Help me keep him around. Ask your congressman to support ultra by going to http://bit.ly/supportultra.”

Melissa Hogan’s blog also gave me thought: http://www.savingcase.com/index.php/2011/12/29/newly-diagnosed-families-handling-the-stares-and-comments/. Although Case and Trey were quite different as youngsters and I haven’t found the need for most of what Melissa’s blog talks about, this one hit home: “Do they repeat a behavior only minutes after you’ve clearly told them to stop? Is the behavior akin to breathing for them, they need to do it so much? Depending on the answers to those questions, certain behaviors simply need to be managed instead of disciplined or prevented, although we can often try to prevent the triggers of certain behaviors.” Trey’s spanking and loud noise making seems to be a NEED.

While I sat and watched Sadie and Avery and Ryan and Trey play last night, I had an ‘Ah-ha!’ moment. Instead of Sadie and Avery whining ‘Stop Trey!’ while they were trying to quietly read a book and Trey was drumming next to their ears, they went with it, or drummed along for a moment before going back to reading. Instead of Ryan disciplining Trey when Trey would spank Ryan while he and I were having a serious conversation, Ryan would stick his bum out farther. When Avery and Sadie were playing a game and Trey wanted to be involved, but instead of asking ‘appropriately’, he would hit them as they ran by, Avery and Sadie would stick their hands out for a high five instead of whining that Trey just hit them.

Because of this IT drug, it is possible Trey may not continue to NEED to do these things. But it is also possible that he will. So instead of constantly trying to correct or change or discipline these behaviours, and fight MPS II (and Trey), which feels like banging my head against a wall, and even more, feels awful, we are going to work with them. We are going to find ways, just like we do with Avery and Sadie, to accept our differences. And that, gives me a deep sigh of relief.

Trey received his 5^th intrathecal dose of 30mg of Elaprase Tuesday, March 6 by lumbar puncture. His white count was again less than one, which means no reactions. Yahoo! By Wednesday afternoon I felt like we’d been in the hospital for days and days and days.

On the sixth month (fifth dose because he missed his November dose due to intrathecal port infection and removal at the end of October), like the first month, Trey has an IV in for 4 days and 3 nights for PK’s (pharmacokinetic studies). Blood draws constantly (15 on Thursday alone). They actually added more blood draws to the protocol because the enzyme is being released from the brain into the bloodstream for so long (at least 2 days) that they want more information! To give you a comparison, the enzyme from Trey’s weekly IV Elaprase infusions is out of his bloodstream within hours of his infusion. So, while this is GREAT news, it makes for a long week.

PK’s are done on monthes 1, 6, 19 & 31, so we won’t have to do the IV thing for another year. In the mean time, our long hospital stays are DONE! Instead of staying for three nights in hospital, for the next 3 doses, we only have to stay over night! And then, from month 10 onwards (aside from PK monthes) we only have to stay for a few hours after dosing! We’re in the home stretch!! For now. I say ‘for now’ because trial life has taught me not to assume or get too accustomed to what ‘was’ going to or ‘what I was told’ is going to happen. Things (ie. protocol, criteria) change so quickly, the moment you assume something, it changes.

Another significant decision made this week was that Trey will NOT have an intrathecal port placed next week. Back in October, Trey’s intrathecal port was removed due to infection. The neurosurgeons would not put in a new device until they were confident there was no lingering infection. To make a long story short, somewhere between then and now, after a lot of reading and questions and debate and conversation, I wanted to explore not putting in a new device. The current device in use is less than ideal and I have many reservations. However, I didn’t know how Dr. Muenzer would react to my request/hope.

Dr. Muenzer is AMAZING. He listens (like REALLY listens), contemplates, tells me if he doesn’t know or that he’ll need to look into or think about something more. It’s one thing when you have limited interactions with someone. It’s easy (or easier) for someone to be amazing when you don’t see them often. But for him to continue to listen and respond with thought and to respect and support decisions that may ‘make waves’ when you see parents daily for close to half a month, EACH month, is nothing short of unbelievable. After pondering this a lot, I think it’s because through all the med school and lab work, he’s held onto his humanity. He still sees Trey and our family as people, not a diagnosis or a number. This past week alone, he must have spent 3 or more hours just talking with Trey, my mom and I. We are SO fortunate to have him running this trial.

So, long story long, for the time being, we will be dosing by lumbar puncture month by month, assessing how things are going and making decisions based on new information that becomes available.

We have this coming week and the following week off. March 27-30, Trey will have end of study tests (the actual trial is only six monthes, now Trey rolls into the extension study), same as what was tested for him to qualify for the trial back in August, which will culminate on Friday with the LONG procedures under general anesthetic: MRI, ABR, bronch, LP. April 3^rd Trey has his sixth IT dose and April 5^th we get to make our way home!!

Thank you for all your support. It’s been quite a year.

“Clinical trials are not for the faint of heart. I think I may have said that before, but I think generally because I am an upbeat and optimistic person, people may not realize the challenges that this clinical trial or frankly, any clinical trial, will pose.

I don’t say this to scare you away from participating in one. But I think a big picture is warranted.

Clinical trials can offer amazing hope. And bring amazing miracles.

But they often carry with it extreme psychological stress, notwithstanding the financial, logistical, and family burdens.

The hard part is that people often talk about how challenging it might be in terms of being away from your family (family burden), spending extra funds over and way above any actual stipend you receive (and that is absolutely the case – financial burden), and figuring out how you get your other children to school, get work done, and in some way help keep your family from falling apart (logistical burden).

But it is difficult to prepare someone for the psychological burden of being in this type of clinical trial, where you spend long periods away from your family, in a different state, often secluded from others in a small hospital room, carrying the hope that this could save your child’s life and health but trying not to hope too much, weighing the risks of multiple procedures on your child, being geographically far apart from any other family who could relate to your child’s disease much less the trial, missing major events in your life, and I could go on.

I’m not trying to throw myself a pity party here.

My difficult months are behind me.

I recently told another mom in the trial that my most difficult months were months 4-8. I was off the initial high of seeing amazing results and was settled into what then felt like it had become an entirely separate life. It was quite difficult to have one entire life in North Carolina – with daily routines, friends, favorite places to eat, and a singleminded focus of successfully getting the dose, blood draws, and other medical events with the least amount of trauma to Case. It left very little mind to consider the “other” life you led at home.

And each decision, weighed carefully in the balance of both protecting your child for the short term, but giving him a life for the long term. It was a period in which the stress grew over time, and luckily, we were ones who didn’t even have additional surgeries or other complications during that period.

Upon returning home, life was to go back to “normal” but with the aftershocks and additional responsibilities from the trip like unpacking, follow-up phone calls, planning for the next one, decisions to be made, etc. And all the while, those around you continue on, some maybe not remembering the huge event in your life that you’ve returned from and that you’re planning again just three weeks later.

You begin to feel more and more isolated and misunderstood, if you don’t closely guard your spirit.

The reason I write is that other families have begun the trial after us and I have received the question several times, “Am I going crazy? Is this normal? I feel like I’m jumping out of my skin, crying at anything, and just generally freaking out.”

So if this is you, or if this someday may be you, it is normal.

It is normal to feel as if you are sitting on a precipice. You are dangling your feet as you watch the bridge being built, hopeful that your child can someday cross it. But the watching is the hardest. And of course, it is so hard to care about Johnny’s birthday, or Susie’s new dress, or your friend’s new lip gloss when your eyes are so focused on watching the bridge and keeping yourself from looking down at a 10,000 foot drop.

The very nice thing about clinical trials is that we as patients are free to speak. We are under no confidentiality agreement. Do we feel a responsibility to be “responsible” in what we say? For sure. I only speak the truth and always measure what I say with a reason for speaking publicly about it. But no one has sought to restrain my freedom, thank goodness. Because it is in speaking, both publicly, and with others we trust, that keeps us both grounded and focused in what we are doing.

What keeps us sitting on the precipice instead of tucking our tail and running as fast as possible in the opposite direction? The hope for the bridge, for sure, for our child and others. The knowledge that God has a plan in this and that it is much higher than my meager mind can contemplate? Absolutely. But also, it is the other moms who sit with us, locked arm in arm, whether by Facebook, Skype, e-mail, or otherwise. Because sitting alone on a precipice is not only lonely, it is infinitely more dangerous to the psyche. Alone on a precipice is scary, nine on a precipice becomes analyzing the bridge, calculating the time to complete the bridge, calling others to sit with you, creating the line of new precipice sitters, laughing with joy that you are there together because no one else in the world understands the feeling of sitting right there, at this very precipice, except those other moms.

So if you are someone who loves a precipice sitter, realize that your love, encouragement, and support matter. They are the harness that allows us to sit at the edge, free to dangle our feet and look over, often fearful, but with help to keep us there. Without that, we might lean out too far, to our own detriment. Or, we might cut and run away from the edge.

And if you happen to be a doctor or nurse who interacts with us sitters, please realize that what you say and do matters too. Thank you for working to create the bridge and for telling us about the bridge, and please don’t remind us about the precipice any more than absolutely necessary. And thank you for not asking me to keep the bridge a secret. The slope is ever so slippery.

So for my those in my harness, thank you, you’ll never know how much you kept me from peering over the edge just a little too long.

And for my friends who sit with me, thank you. I thoroughly enjoy watching the bridge with you.”

Melissa Hogan

Because this was Trey’s fourth dose, the trial no longer requires waiting for lab results to come back with the white count before dosing. So, Trey was asleep less than 15 minutes for the lumbar puncture & dose, which is awesome. Now he’s in hospital until Friday, check up Monday and fly home.

This month, there’s not a lot more to update. Next month is going to be a doozey. We fly to UNC March 4, regular appointments March 5, and then Trey gets an IT dose March 6, during which time he will have an IV placed for the duration of his hospital stay until Friday, March 9 (keeping an IV in for 4 days and 3 nights with almost hourly blood draws is no fun).

Trey will get a new IT port placed March 13 (he had his first port removed Oct. 28, 3 weeks after placement and a week and a half after his first intrathecal dose, due to infection. He missed his November dose because of the infection and has had his December, January and February doses, and will get his March dose, via lumbar puncture. I was hoping a new port might be approved before we had to put the old port back in because it has so many issues, but new port approval looks like it is still many monthes away, and popular opinion seems to be that too many lumbar punctures is a bad idea, so we will put back in a less than perfect device). I’m really nervous about this surgery and device, given what happened to Trey and all the issues the other kids in the trial have had with it, but I’m not feeling a lot of alternative options.

We’ve got to stick around UNC for surgical check up and a neuro exam until March 18. The following week we have off and then we’re due back at UNC for end of study tests (all the same stuff he had to qualify for the trial in August: echo, EKG, audiology, MRI, ABR, lumbar puncture to test pressure in the brain, neurocognitive tests etc etc etc.) March 27-30. Then Trey gets his next IT dose April 3! After that 5 week trip to UNC, we’ll be finished with the 6 monthes of 10 day trips and onto five day trips: fly Sunday, check ups Monday, dose Tuesday, stay in hospital overnight and then fly home Wednesday or Thursday! Yahoo!

The above picture was taken this past Friday at the stable where Trey will begin horseback riding lessons upon our return in April! It took me two years to get enough tests (X-rays and MRI’s) and see the right doctors before I could convince Trey’s metabolic doctor to sign off on this activity. We’re both EXCITED!