MPSIIFund News

We’re still waiting on appointment times at Duke. Dr. Stockler just sent down Trey’s tests to Duke and UNC Thursday, so we’re waiting for the doctors down there to go over Trey’s tests and make decisions regarding which ones they want to redo…we hope not too many as the cost is high and we don’t want to stress Trey out more than we have to. I’ve also been starting to read the journals of other parents whose kids have gotten CBT. I cannot believe the strength they have. Every day is spent praying that this fever, or this rash, or this infection, or this mood does not mean something is wrong. They spend every day praying for their kid’s life. It is unbelievable, even to someone who is considering the procedure. Totally surreal. But then they make it through, and seemingly, everything is great. The kids are progressing, gaining language and skills, and from pictures, they don’t even really look like they have Hunter’s anymore. And tests show that the enzyme is everywhere in the body, even the brain. So much to think about…

So there’s not a lot to update, although we have been very busy. I have been talking with Duke about CBT’s…everything about CBT’s: what the procedure is, how it works, how effective it is, how many other kids have gotten it, etc. I have also talked with other parents who chose the procedure for their children. And currently we’re trying to figure out what appointments Trey will have at Duke, since he’s already had many of them at Children’s. And then cost…we’re hoping MSP might pay for the $25,000 plus assessment, but we don’t know yet. In a nutshell, it seems as though CBT is a last resort at this point in time. It is dangerous and not proven effective. However, it is also not unproven (it is such a new treatment) and it is the ONLY treatment for kids with brain involvement. So we want to talk to Dr. Muenzer and Maria Escolar (she does the neuropsychological development testing) and find out their thoughts on Trey’s brain involvement. Intrathecal therapy sounds promising, but it isn’t even in clinical trials yet, so it is therefore still years away from approval…and since we’re in Canada, who knows when we’d finally get it. We’re really looking forward to our trip. Hopefully it will give us some answers and help us make some decisions.

Some new considerations have entered our world. A mom whose son was recently diagnosed with Hunter’s Syndrome has gotten me onto Cord Blood Transplants (CBT). It’s a relatively new procedure over which there is some controversy. It is controversial because doctors have stopped doing Bone Marrow Transplants (BMTs) on children with Hunter’s. BMT’s did not work (they don’t break the Blood Brain Barrier), but new research suggests there may be some promise in CBT (and breaking the BBB). I really don’t know a lot about it at this point, but since the hub of CBT’s is at Duke, right near UNC, where we’re going to see Dr. Muenzer anyway, we figure it is worth looking into. Since my mind is spinning after a night of no sleep and I figure you’ve had enough abbreviated words for the moment, I will say goodbye and promise to update soon.

We are considering a cord blood transplant for Trey, so here is the low down on the procedure. A Cord Blood Transplant means that Trey would receive a transfusion of Cord Blood (similar to the way a blood transfusion is given) in order to provide him with the missing enzyme.
Until now, we have only been working towards Enzyme Replacement Therapy (ERT) – not yet available in Canada. But ERT does not prevent Trey’s brain from being affected. Here’s the catch – we don’t know if Trey’s brain is being affected or if it will be affected down the road, but CBT must be done at a very early age before Hunter’s has progressed, otherwise the risk it too high.
We will be having two weeks of intensive testing done at Duke to determine whether or not Trey is eligible. In order to be a candidate, Trey needs to be healthy and the MPS needs to be not well progressed. Also, they will likely try to predict whether or not Trey’s brain is going to be affected in time. If not, ERT is a much lower risk treatment and equally effective. The cost of the testing is close to US $24,000.
If Trey does receive CBT, he would first receive chemotherapy treatment to wipe out his immune system. He would then receive CB transfusions, which would provide him with the enzyme. This would involve two months in hospital. Graft vs Host Disease (GVHD), which refers to the chance of the CB not grafting and is potentially terminal, has the highest chance of occurring during this time. After 2 months, we would move into an apartment on campus and stay for another 4 months. Up to 1 year post-transplant is still a risky time, although. I don’t know how risky or if the risk lasts longer than this. The cost of the treatment is approximately US $640,000.

We had our first appointment with Caroline Abrams, an Osteopath, today. It was very interesting for me because until recently I had never even heard of Osteopathy. I still don’t understand it fully, but what she did with Trey today was Cranial Osteopathy (not craniosacral massage as I first thought). Basically, she got me to entertain Trey (Avery was with my dad) while she gently touched his head and spine. Apparently what she did gets the fluids in his head and spine moving efficiently, which they (according to her) were not. We have 2 more appointments booked with her, one week after the other. If you want more info about Osteopathy and what Caroline does, check out her website: www.vancouverosteopath.com. It will explain everything better than I ever could.

So we had a really busy day today. In the morning we saw our ENT, Paul Moxham, who didn’t stop making my dad laugh for the entire appointment. He’s really funny and really nice. Anyways, Trey’s left ear tube is out and as a result of a recent cold, he has fluid in that ear. His right ear tube is still in, but almost out. We are going to see him again in 2 months to take another look, and if the fluid is still there, discuss another set of tubes. We also had a physio appointment with Jane, through the Infant Development Program (IDP). She plays with Trey, checks out his strength and flexibility, and then makes suggestions for games and things to do to keep his range of motion excellent. He really likes her. Then this afternoon we saw our Naturopath, Jason Hughes. He gave me some awesome physical ideas for how to drain the fluid from Trey’s ears, and how to get rid of congestion naturally (Trey just got over a cold…his first in over 6 months), and then he made some adjustments to his remedies. Tomorrow we see an Osteopath for the first time. Dr. Hughes suggested we see her for craniosacral massage.

We received a bit more news from the hospital. After another meeting with the hospital administration, and a whole bunch of advocacy from a few doctors who really want to help Trey, the hospital has said that they want to help find a solution to the funding problem with Elaprase for Trey. I am not sure what they mean by that, but to me it means that this door is not yet closed. We also had an interview with Silk FM this morning (a Kelowna radio station). They are doing a Radiothon for the BC Children’s Hospital Foundation on November 3, so if any of you are in the area, check it out!!

We’ve received a bit of new information. The hospital has tentatively said no to funding Trey’s ERT. We’ll get final confirmation today, but from the doctors I have talked to, we can expect a ‘no.’ Their reason is that there is not enough evidence that Elaprase (the ERT for Trey) will work and especially not for children under 5. After talking to Kirsten Harkins, the exec. Director of the Canadian MPS Society, this is the problem with not having an Orphan Drug Policy. This is what everyone will say as a reason to not pay for ERT, until we get a Policy. There was enough evidence for the FDA to approve Elaprase and there is enough evidence for other funders to fund it. And also, none of these ERT trials were done on kids under 5. But because MPS is progressive, there’s even more reason to treat kids as young as possible. So now it’s onto the government for funding. Dr. Lorne Clarke and Dr. Sylvia Stockler have a meeting with Bob Nakagawa, Deputy Minister of Health, on Friday to discuss funding and Dr. Clarke says we can expect an answer in 3-5 weeks. So for now, more waiting. One down and onto the next.

We had an appointment with our specialist, Dr. Stockler, today. We think she’s awesome and are so glad it’s her who we meet with on a regular basis. We talked about a whole bunch of stuff because there’s so much on our plate: trying to get Trey ERT (and the crazy political game that is), figuring out both Trey and my genetic material, getting baseline tests done (and which ones should be done and why) and understanding what the results mean.
Baselines mean testing basically every part of Trey’s body to see how it’s doing and where it’s at. Baselines happen every so often (6 monthes to a year or more) depending on how quickly everything is progressing. Anyways, long appointment as short as possible, Trey’s gene tests are back and he has a new mutation. All this means is that they cannot tell severity from it (there is one mutation that indicates a severe disease). My results are not back yet, so we don’t know if it’s genetic.
And about ERT, there is a meeting at the hospital on Friday to discuss Trey. They will discuss both if the drug can be used in the hospital and if they will pay for it. We should have an answer within 3 weeks.
We also met with Terra from the BC Children’s Hospital Foundation. We’re going to support them by being in radiothons, doing interviews, talking at events etc.
I’ve been asked to explain an “Orphan Drug Policy.” I don’t know a ton, but from my understanding, an Orphan Drug Policy will allow people with rare disorders (we like to use the word ‘differences’) access treatment without the s@#t that we are currently being put through to get Trey on ERT. Apparently Canada is the only ‘developed’ country in the world that does not have an Orphan Drug Policy. In order for Canada to approve drugs for use, they have certain protocols. They want to see studies done on many people for long periods of time. For most drugs this works. And policy should be this way to make sure drugs are safe and effective. However, because these diseases are rare and quickly progressive and life threatening, trials for rare diseases do not have the time or people to do these lengthy tests on many people. But Canada does not have a policy to address these tests that are short and not done on many people. And so basically, they just say no. No, we are not going to help you if you have a rare disease. Or we’ll help you, but you have to jump through hoops first. That is my understanding, but for more info, www.raredisorders.ca, is a good place to go. There is progress being made, but not fast enough for those of us who are having to deal with the lack of a policy now.

BC Children’s Hospital has declined the request to fund ERT for Trey. They argue that there is not enough evidence that Elaprase (the ERT for Trey) will work, and that evidence is especially lacking for children under 5. Well naturally, there haven’t been any trials on children under 5. That’s the thing with a new treatment and a very rare condition! But since MPS is progressive, and the FDA found enough evidence that it works to approve Elaprase (for all ages), it would follow suit that we should start treatment for children with MPS II as young as possible.
Kirsten Harkins, the Executive Director of the Canadian MPS Society and a mother of a child with MPS, has explained that this is the problem with not having an Orphan Drug Policy. Everyone will cite some variation of this response as a reason to not pay for ERT.
So now it’s onto the government for funding. Dr. Lorne Clarke and Dr. Sylvia Stockler have a meeting with Bob Nakagawa, Deputy Minister of Health, on Friday to discuss funding and Dr. Clarke says we can expect an answer in 3-5 weeks. So for now, more waiting. At least we’re one down and onto the next.