Good news! GREAT news actually. Trey’s C1 or his top vertebrae is ossifying (turning into bone). In people with MPS, the top vertebrae doesn’t form completely. It is what leads to neck instability. When Trey was diagnosed, we were told his C1/C2 was unstable because it was not hard bone, but more like cartilage. We were also told that build up of GAGs in his neck is causing spinal cord compression. Not severely, but somewhat. This is typical. The combination of spinal cord compression and instability is very dangerous. Paralysis if you fall the wrong way kind of dangerous, meaning no gymnastics, horseback riding, contact sports etc. However, we found out at Trey’s orthopedics appointment this week, that Trey’s C1 is ossifying and that he has NO neck instability. With MPS, we hope for stability, no progression. But for the opposite news, that he is improving? YAHOO! Trey’s MRI showing spinal cord compression was taken before Trey’s first intrathecal dose, as part of the qualifying tests in August 2011, so I am curious to see what the end of study tests show this March.

Opthalmology… last year we found out Trey has some ‘changes’ in his eyes. White spots that cause issues first with night vision, then permanently. However, during my ‘Oh My God my kid is going blind but maybe not if he qualifies for the intrathecal trial’ scare, I called Dr. Muenzer and he said no, these changes do not cause blindness in MPS II. They can cause eventual night vision issues, but not yet in Trey. Last Thursday we found out those spots are still there, but still not causing any vision issues. Trey still has 20/20 vision. We have been sent off to get electroretinograms and photos of his eyes, but because the issues caused in the eye in MPS II cannot be treated with glasses or surgery, drops or anything else, I’m going to push them off. We have enough appointments right now and the information will not do anything for Trey.

The procedure was 4 hour and 15 minutes. Trey’s surgeon, Dr. Verchere, booked him for 3 hours, thinking it would be plenty time. There was a lot of scar tissue and a lot of tenosynovium (what builds up in the carpal tunnel in people with MPS and causes compression of the nerve, and also, what Dr. Verchere cleared out of Trey’s hands 3 years ago). They also didn’t have a nerve stimulator that worked. Dr. Verchere tried 5 different nerve stimulators; people from departments all over the hospital brought their nerve stimulators, but none of them were consistent. So, she could not tell us if Trey’s nerves were damaged during the surgery or not. She says her gut feeling is that the surgery went well and his nerves should be fine, but she was frustrated to tell us she couldn’t give us an accurate answer. The answer will come over the next weeks as we watch Trey use his new hands.

Dr. Verchere commented that Trey’s nerves didn’t seem overly compressed. There was a lot of build up, but the nerves weren’t at all dented, as they can be. She says moving forward, she doesn’t know what to recommend regarding testing and potential future surgery. I’d like tests at some point to have a new baseline for where Trey is at after this procedure, but Dr. Verchere doesn’t know what she’d do with that information. She doesn’t know how much benefit there would be vs. risk of more scarring, damage to the nerve during the procedure and of general anesthetic. Not the most satisfying surgical results, but Trey’s hands are clear again, I trust Dr. Verchere, and here we are.

In some ways it gets easier in that we know what to expect, we’ve been here before, but in other ways, not so much. Yesterday especially, but the past few days have been rough. I think it’s a combination of all the appointments (orthopedics, ophthalmology, speech, occupational therapy, osteopathy, neuro, general pediatrician), monthly general anesthetics for which we need to keep Trey healthy, bimonthly surgeries (right now the surgeon is back there with my sleeping son…), being out of town for half the month, trial life, jet lag, feeling sorry for my child’s lack of ability to go swimming, for playdates, and participate in all the other things his siblings and friends get to, and for me, not fitting into life as everyone around us lives it… It’s been hard and isolating. And that’s all with intense gratitude for our opportunity within this trial.

This morning I was woken up by a phone call from Surgical Daycare asking us to come in early. The first ‘case’ of the day had been cancelled. We had decided to bring Avery and Sadie to the hospital with us because firstly, they wanted to come and be included and secondly, in all honesty, I want them to have a clue what it is that Trey goes through. So, we woke everyone up and got on our way.

Right now, we’re waiting for Trey to wake up. With the anesthetic they used to prevent nausea and vomiting, due the lengthy procedure, the drugs will have gone beyond his blood stream and into his fatty tissue, meaning he’ll be sleepy for longer because the drugs will take longer to exit his system.

In trial news, I found out last week that because we live in Canada, there will be an additional step in getting Trey’s IT infusions set up at BC Children’s Hospital. In addition to negotiating funding and ethics with the ‘home’ hospital, Shire needs to apply to Health Canada for a Clinical Trial Agreement (CTA). Because Trey will be the first child to participate in the trial in Canada, Health Canada will need to approve this trial existing on Canadian grounds, which means we will likely be traveling to UNC for a longer period of time for monthly doses. Breaking new ground takes time… the good news is that we don’t have to wait for treatment while we wait for beaurocracy and institutions do their thing. Last time we had to wait and watch Trey’s dsease progress while Health Canada and the BC government and BC Children’s hospital negotiated the cost vs. benefit of saving Trey’s life with IV Elaprase. This is definitely an easier place to breathe.

Oh, to the ebb and flow of life…

I got a call today. It was a long distance call and I thought it was a telemarketer. I was about to tell this woman I was busy, when she said she’d read my blog and she had some questions about the IT trial. She has a son with MPS II. She wanted to know what effects I am seeing in Trey as a result of the trial. I told her what I’ve observed, as well as what other parents have reported and what tests have demonstrated in the kids in the trial thus far: stabilization, no further decline, IQ’s going back up, an improvement in behaviour and hearing… Silence on the other end. Then the sound of tears. Then more silence. Then an apology. I’ve become so accustomed to talking about the trial (and MPS), that I can talk about hydrocephalus, brain decline, clawed hands, enlarged livers, hearing loss, hearing aids, and the list goes on and on and on… that I don’t always remember the effect of my words. When this woman’s son was diagnosed, she was told her son was going to die. I just told her that there’s something out there that could keep him alive. I’d cry too.

It brought me back to all the other parents I’ve spoken with upon diagnosis. I’ll never forget the first time I spoke with DK, Robb, Jamie, Sarah, Jen. They contacted me when their kids were diagnosed. You get this call from someone you don’t know, often at an unexpected time, and within seconds, not even minutes, you’re sharing your utter breath-taking devastation and deepest fears. There’s no point beating around the bush because you’ve been there. Hell. And you know what it’s like. You can’t breathe, you can’t sleep, and you don’t know how or why to go on.

I’ll also never forget the first phone calls I made. I was drowning and grasping for anything or anyone to give me some air. Simon, Marie, Kirsten, Carolyn. I have made my share of calls, sobbing, because I didn’t know how to dig myself out of this deep deep hole.

I am glad this mum called me. It takes courage. And it gave me pause. I’ve posted many many times about my gratitude for this trial, for life, for Trey and my family, but this post of gratitude is for my MPS community. For answering the phone and listening when you didn’t know who I was. For sharing your story, experience, advice, and knowing, year after year. For making me feel I’m not alone and crazy. I love you.

The above picture is DK’s son Tyler. Beautiful.

For anyone affected by a rare disease worldwide, and for all of us working towards an Orphan Drug Policy in Canada, the below thesis is an excellent source of information and I think, well worth the read. Below is the abstract, click the link for the full thesis: https://circle.ubc.ca/handle/2429/39881

“In the context of Canada’s publicly funded universal health care system, access to potentially life-saving and/or life lengthening orphan drugs costing anywhere from $100,000.00 to $850,000.00 per patient per year is a complicated matter.  This study is an anthropological examination of the debates surrounding ‘expensive drugs for rare diseases’, a term that has come to represent the costly treatments developed for rare metabolic diseases like Mucopolysaccharidosis, Pompe Disease, Fabry Disease, and Phenylketonuria.

This study was conducted in British Columbia, Canada.  It is based on several months of participant observation in hospital, industry, and patient advocacy contexts, as well as 14 semi-structured interviews conducted with the different stakeholders in the debate: patients and families, health care professionals, representatives of the provincial government’s Ministry of Health, pharmaceutical companies, and patient advocacy groups.  This study looks at discussions of authority, responsibility, and rights to health care/health technology.  It examines how complex systems of relationships shape these discussions in a particular time and place, and how the competing cultural models of publicly funded health care and profit-based pharmaceutical policy and industry operate in the context of extremely expensive drugs. The body of literature on orphan drugs in the social sciences/humanities is very underdeveloped, and there are no known comprehensive social scientific/ethnographic studies of the metaphors, constructs, and cultural context of debates surrounding orphan drugs/expensive drugs for rare diseases.  This study attempts to fill some of these gaps by looking at the complexities of different stakeholder arguments and their structural and discursive context.

In attempting to reconcile and solve the problems of accessibility to EDRD, the different stakeholders directly implicated in the debate mobilize culturally shaped notions evidence, accountability, fairness, and responsibility.  This study demonstrates that the problems, pitfalls, and provisional solutions articulated by the different people implicated in this debate throw in to relief the many contradictions between orphan drug policies, neglected diseases, drug regulation/assessment practices, and the relationship between pharmaceuticals and society.  These frameworks and competing cultural models are creating tensions that may be irreconcilable with a publicly funded health care system.”

Just before his third birthday, after six monthes of fighting with the BC government, Trey became the first person in Canada to be approved for Elaprase, a life-saving IV Enzyme Replacement Therapy. This past August Trey qualified, after years of waiting, for a life-saving IT Enzyme Replacement Therapy trial at UNC. He had his third monthly IT dose of Elaprase this morning. White count less than one. 30 more mg of enzyme floating around in Trey’s brain.

The gratitude never gets old. I have had to fight and advocate and wait for every treatment Trey’s received. To date, even when Trey’s had the flu and not been able to get his IV Elaprase doses on time (you can’t get your infusions when sick, as that increases the chance of reaction), I’ve made them up, doing infusions every five or six days until he’s back on track with his weekly treatment. Trey’s missing an enzyme. I’m not going to give up on any chance to get that enzyme into his body.

Now it’s the IT drug. After years of waiting, hearing about the possibility of an intrathecal trial, but not knowing if it would come to fruition, and then for Trey to actually be cognitively intact enough to qualify for the trial once it began, I am still blown away. Although the details of flying across the continent for 19 hours, missing connecting flights, leaving young children at home for ten days a month, Trey getting too many needles each month to count and now too many general anesthetics in his life to count, are not ‘easy’ realities to manage, they are small potatoes in the bigger picture.

Last night I lay in bed and could not sleep. Because I continue to be amazed by this chance we have. This past Saturday, Sadie saw a picture on our wall I’d just hung. It was me, holding a boy, dancing. She asked who the boy in the picture was. She said: ‘I know that’s you (pointing to me), but who’s that (pointing to the boy)?’ It was a photo of Trey and I, pictured above, taken a few monthes before Trey started IV Elaprase. His features and body have changed so much as a result of his weekly treatment, his sister doesn’t even recognize who that little boy was, before he started a therapy that would save his life.

When Trey started IV Elaprase, no one knew exactly what it would do for him. No one knew that five years later, his sister wouldn’t even recognize old pictures of him. Now we have this same chance with IT Elaprase. Gratitude doesn’t even begin to scratch the surface…