MPSIIFund News

This is the letter that Kirsten Harkins and I wrote for the Canadian MPS Society’s Annual mailer. Click here to read the letter.

We met with Dr. Stockler today (Trey also got x-rays to check a ridge on his head, that could be craniosynostosis…which Dr. Stockler didn’t seem concerned about and neither are we after looking into it), who gave us more information about transplant that made everything even more confusing.
Until now, we’ve been seriously leaning towards CBT. It’s what has been working and it’s what is being done. Bone Marrow Transplantation scares the crap out of me because they stopped doing it 10 years ago because it didn’t work. And what’s frustrating about it all is that Duke and BCCH don’t agree.
Duke is here and BCCH is there. Here’s where they stand: Duke wants to do a CBT. BCCH wants to consider a related BMT first (it comes down to them wanting to find the best possible match for Trey, whether bone marrow or cord blood). Duke thinks cord blood is superior to bone marrow. BCCH thinks there is no difference between cord blood and bone marrow. Duke thinks that CBT’s are working for Hunter Syndrome because cord blood is superior to bone marrow. BCCH thinks that CBT’s are working for Hunter Syndrome because transplant procedures have improved (I found out what some of those procedures are: 1. radiation is no longer used, which can cause brain damage and 2. instead of transplanting all the bone marrow like they used to, transplanters now use only the stem cells from the bone marrow, which is what the cord blood is made up of, which is what we know gets into the brain).
So I think that’s it. It is just such a frustrating place to be because we do not know enough about transplant 10 years ago versus transplant today and bone marrow versus cord blood to make an educated decision for Trey. Even the doctors who specialize in this cannot agree, at least when it comes to Hunter Syndrome. There are no answers and we’re having to make a somewhat blind decision regarding our child’s life…and people say that buying a house is the biggest decision they’ll ever make.
I will hopefully be talking with Dr. Kurtzberg (the head of transplant at Duke) and Dr. Szabolcs at the end of this week to hear more of their thoughts on this, and then we’ll meet with Dr. Schultz at BCCH again on December 15th to hopefully make some decisions.
On another front, if we choose not to go with a transplant and choose ERT instead, it’s ready to go. All we have to do is give the go ahead and then it’s a matter of sending the drug up to Canada. Which is so freaking awesome. It was a bit of a fight, but nothing like some of our friends have gone through and nothing like we were prepared for.
I don’t often hear positive things about our government, especially when it comes to rare drugs for rare diseases, but in this instance they have come through for us and we are so thankful. It would be so nice to know that Trey’s brain wasn’t affected and then we could jump on the ERT gravy train…just dreams, I know.

Participation helped to raise funds for the BC Children’s Hospital Fund. Click on the play button to listen.
[audio:http://treypurcellcom.nationprotect.net/audio/radiothon2006.mp3]

HLA typing was done on our family and preliminary results suggest that Avery is a match for Trey. This means that now a decision has to be made regarding related Bone Marrow Transplant or unrelated Cord Blood Transplant. Finding out that Avery is a match makes things more complicated because historically BMT’s didn’t work on kids with Hunter’s and currently it looks like CBT’s might be working for kids with Hunter’s. Are CBT’s working because transplant procedures have improved, and therefore BMT’s (which are no longer being done) would work also? Or are CBT’s working because CBT’s are superior to BMT for Hunter Syndrome? Or do none of them work and we just don’t know that yet? The schools of thought are divided, which is no help to us and very frustrating considering that transplant, BMT or CBT, is a painful and risky and costly procedure.

I was reminded last night, of another reason why I don’t like waiting. You forget what has become your world, you feel normal for a few seconds or minutes, and then something happens to remind you. And your heart drops. You are considering something that in a few months could end your child’s life. And that the reason you’re considering something like this is because he has a disease which could significantly shorten his life and affect his brain. When I’m calling doctors and politicians, sending out emails, and going to appointments, it’s okay. I’m fighting for my kid and doing everything I can for him. And I know and I remember. It’s funny because we’re actually doing well. We spent the weekend with friends and celebrating Avery’s first birthday. I think all of this is coming up for me because this past weekend was the first time in a while (if not the first time since February) when I wasn’t consumed with MPS. And I was able to forget for a while…

This week was a bit slower than last week, and hopefully next week will be even slower. Trey had tubes put in his ears on Monday, and although there is stress associated with any surgery (especially your child’s surgery), now that we have entered into the world of MPS and BC Children’s Hospital, we realize that in the scheme of things, a tube surgery is pretty easy. And because Trey didn’t even get a General Anesthetic, he was back to himself soon after we got home.
Tuesday was a day free of appointments, so we relaxed (as much as one can relax with a 1 and 2 year old) in the morning and went to Science World in the afternoon.
Wednesday was a bit busier. The morning was mellow with Trey having a physio appointment with Jane from the Infant Development Program (IDP). They played a whole bunch and Jane made recommendations for how we can keep Trey’s body as flexible and working as optimally as possible. Right now, the only areas of Trey’s body that have any limitations are his wrists, hips, and shoulders, and they are minimal. She made suggestions for how to stretch those body parts throughout the day with easy stretches and play activities (ie. hanging from anything, kissing his knees together, pushing down on his hands to stretch his wrists using Play Doh or running toy cars along the floor, reaching for toys that I place up high etc.).
The afternoon was not so mellow. We had a bunch of things to do at BC Children’s Hospital. Trey’s ears were still draining fluid from Monday’s surgery, and because the fluid Dr. Moxham got out of Trey’s ears during the surgery was not clear (ie. if not infected, almost infected), Dr. Moxham told us that if by Wednesday Trey’s ears were still draining fluid, we would need antibiotic ear drops. So, we went and got a prescription and filled it.
We also had an appointment for blood work to be done at the lab for HLA typing. HLA typing will tell us if Avery, Ry or I are matches for Trey if we were to proceed with a Bone Marrow Transplant. If none of us are matches, a Cord Blood Transplant would be the way to go, since we would not do an unrelated BMT (really though, from our perspective, CBT is the only way to go).
After all of us got our blood taken, we met Kirsten Harkins at the Medical Day Unit (MDU). Her son, Nicklas (he has MPS I), was at the hospital getting his ERT. We met her because we are telling our story for the MPS Society’s ‘Annual Christmas Campaign Letter.’ We met with her to talk about what the Society has done for and how it has helped us.
And unrelated to Trey, but finishing off our busy day, Avery got some of his 1 year immunizations…poor guy, needles all afternoon!! Fortunately my dad came along for the afternoon to help keep me sane. Thanks dad!!
Thursday morning Trey had speech class with Tamara, who is noticing huge improvements in Trey’s language (he’s combining words and putting the endings on words) and he also saw his Osteopath Caroline again. I wasn’t there (Ry took him), but apparently the fluid in his head and spine is moving better than even last week. And that was it for medical appointments for the week!!
Just regular life and fun stuff for the next few days (like Avery’s belated, but not forgotten, birthday party). I’ve come to find that weekends are the only time I can relax because they’re the only days that we don’t have medical appointments and they’re the only days that doctors don’t respond to my incessant emails!!
Next week is so far very empty, just SLP with Tamara. Very nice. It’s weeks like these that I remember what it was like before diagnosis. When I actually had to think about what we might do…the Aquarium or the library? Baking or Science World? The park or painting?

Trey had a successful and uneventful tube surgery this morning with Dr. Moxham. Tubes were put in and a bunch of thick fluid was drained out. We were in and out of the hospital in under two hours and they didn’t even need to give Trey a General Anesthetic, just a little gas, since the procedure was so short (approx. 10 minutes). The only frustrating part was the Recovery Room. Trey has now been put under 3 times: first was an adenoidectomy and tube surgery, then an MRI, and today, a tube surgery. The first time, Trey woke up alone in the Recovery Room and by the time I got to him, he was so hysterical it took 20 minutes, with the help of a high dose of Morphine, to calm him down. After that we began to request being in the Recovery Room when he woke up, and although everyone we have talked to said they’d “do everything they could,” we have yet to be in the Recovery Room when Trey woke up. I’m not sure yet what we’ve got to do to make this happen…When it comes down to it though, we’re just happy to be home, have the procedure done, and be one step closer to making decisions about transplant.

Some days it occurs to me more than others that sometimes life just isn’t easy. Today was one of those days. The morning was fine as Trey’s Speech & Language Pathologist (SLP) noticed that Trey is combining words more easily and is pronouncing the ends of words much better than he was before our trip. And after seeing Trey’s SLP we had some down time at Kinder Gym.
It was the afternoon with Dr. Schultz, the transplant doctor at BCCH that made me go hmmm. Since this entry is so long, I’ll cut it into 2 parts: Part One is our meeting with Dr. Schultz and Part Two is the rest of our week.
Part One: After Trey’s nap, Trey and I left Avery at home with Grandma (Ry’s mom), and headed out for our meeting with Dr. Schultz. As a result of our meeting with the transplant doctors at Duke (for details see entry ‘Final Appointments at Duke’), we made the decision that if we did proceed with CBT, we would do it at Duke. Dr. Schultz had a different opinion. He believes (at this point, although he did agree to talk to more doctors and do more research) that Trey’s transplant could be done just as safely at BCCH as it could be done at Duke. This affects us because if we wanted to do the transplant at Duke and have it paid for, we would need Dr. Schultz to apply to the BC government on our behalf explaining that the transplant could not be done here. He also thinks it is important to proceed with transplant as soon as possible, based on evidence from other diseases. So, he’s going to talk to Dr. Escolar and find out about Duke’s recommendation to wait.
Probably the most controversial part of the meeting for me was what type of transplant to do: Bone Marrow (BMT) or Cord Blood (CBT). From everything I have read and heard about, BMT’s are out of the question. No one even does them anymore on kids with Hunter Syndrome because they don’t work . Dr. Schultz also had a differing opinion here. If he were to do the transplant, he’d want to consider a related BMT before a CBT. His reasoning behind this is because he does not think there is a difference between Cord Blood and Bone Marrow transplantation, especially since the Bone Marrow donor would Avery (we do not yet know if he is a match…1 in 4 chance…HLA typing will be done next week). The idea being that Avery’s Bone Marrow is young. He brought up published research from leukodystrophies (MLD, ALD, and Krabbe) and MPS I, which does not suggest Cord Blood is better than Bone Marrow. He thinks that the reason BMT’s didn’t work for Hunter’s in the past (very few transplants were ever done on kids with Hunter’s), but quite possibly will now (and he also thinks is the reason CBT’s seem to be working on kids with Hunter’s now), is because of improvements in transplantation procedure.
The reasons he likes related BMT over CBT is the reduced chance of GVHD and the reduced chance of the Bone Marrow not engrafting. His stats were that related BMT has a less than 1% chance of not engrafting and CBT has a 5-10% chance of not engrafting. What’s interesting to me is that the reason he’s even considering transplantation with Trey is because of the promising research coming out of Duke regarding CBT’s on kids with Hunter Syndrome.
Dr. Schultz also talked about transplant not helping joints, ligaments and bones. Now I’m wondering if Trey will need ERT post-transplant after all. So after Dr. Schultz and I talked for 2 hours and after Trey covered the floor with popcorn, drawings, and toys, we decided to meet again in one month. On December 15 we will make final decisions regarding whether or not to transplant, what kind of transplant to do, where to do it and when.
Part Two: Here’s a summary of the rest of our appointments this week. Tuesday we saw or Homeopath, Lauri Dack, who started Trey on a new remedy.
Wednesday was our ENT appointment with Dr. Moxham who gave us our new and more exciting appointment time for Trey’s tube surgery (this Monday). After our appointment with Dr. Moxham we headed over to Second Cup in the main part of BCCH and met Jayne from the BCCH Foundation. She took us up to the second floor where Trey had a photo shoot for the Foundation (look for his pictures in the upcoming BCCHF Lottery campaign).
Thursday we saw our Osteopath, Caroline. If you’re not interested in details, skip this part, but basically, what Caroline does is get the fluids in Trey’s body moving. One of the complications with kids who have MPS is communicating hydrocephalus. From my understanding, communicating hydrocephalus is a build-up of fluid surrounding the brain. This fluid build-up causes increased pressure on the brain and eventually squishes the brain causing a whole range of problems from headaches to brain cell destruction and loss. The fluid builds up in the brain because in some kids who have MPS, the fluids don’t circulate well.
When Caroline first started seeing Trey, she said the fluids in his head were barely moving. Currently she has them moving quite well (although she says she’d like them moving a bit better), but she’s having trouble getting the fluid in the sacrum moving. Although, she did say that she was making progress after this appointment.
Thursday afternoon we saw our Naturopath, Jason Hughes. For the past month we have been doing something called the Harmonizing Protocol. It focuses on draining toxins from the body. In the past couple of weeks, Ry and I (as well as other family members) have noticed that Trey’s belly has gotten substantially smaller. Dr. Hughes attributes Trey’s smaller tummy to the toxins beginning to drain and was quite happy with Trey’s progress.
And not directly related to Naturopathy, but in a similar realm, we have started Trey on Goji juice. Ry’s cousin told us about it. We have read up on it and also asked Dr. Hughes about it. He spoke very highly of it, and from what I’ve read it can help with and possibly cure everything from arthritis and gout to cancer, diabetes and heart disease. It sounds pretty amazing and seems to help pretty quickly. So maybe this weekend we’ll try to relax before another bout of appointments next week.

Trey’s tube surgery has been moved up from November 29 until this Monday, November 20, thanks to our awesome and wonderful Dr. Moxham. We explained to him that the sooner we can get his tubes put in, the sooner we can get another assessment at Duke and the sooner we can make a decision regarding transplant. He was happy to help out and we are relieved that we can get Trey’s surgery done so soon. I never thought that I’d be excited for my kid to get surgery, but here we are.

Trey’s ERT is funded!! I spoke with Bob Nakagawa today and he was pleased to tell us that our government, through BCCH, will pay for Trey’s ERT. This is a huge step for our government and we are so thrilled.
However, we cannot begin ERT until we choose which form of therapy Trey will get: CBT or ERT. ERT is much much much less risky form of treatment and works wonders on the body, but does not help the brain. If we chose the ERT route for Trey, he would get an ERT infusion once a week at BCCH (it’s an all day procedure).
CBT is very risky (the mortality rate is 15-20%) and has not been proven effective as it is too new and soon to tell (the first CBT done on a child with Hunter Syndrome was 4 years ago). However, it has the possibility of helping the brain. It could be the breakthrough Hunter Syndrome is looking for, or it could not.
For now we’re in a bit of a waiting place, which I’m not fond of, but at this point, it’s what we’ve got to do. We are waiting because the doctors have recommended it and when it comes down to it, we don’t want to take the risk of our child dying if we don’t have to. However, we want to make sure that if we do wait, the chances are likely that we will have different results in 3 months than we have right now, for two reasons: one, the chances of CBT working for Trey are better the younger he is, and two, ERT has been approved, and again, the sooner we begin, the better.
And on a different note, we are home from our trip. We have spent the last fews days with the McFadyen’s at their home in Campbellford. They live in a beautiful house in the country. Nothing like our home in the city, and just perfect for a little R&R. It was fun and relaxing and awesome. We slept, visited, drank, ate, talked about fundraisers, talked about MPS, and talked a lot about the decisions in front of us.
Although they don’t have to make decisions regarding brain involvement for Isaac because MPS VI rarely affects the brain, while they were going through diagnosis, they spent some time believing Isaac had MPS I and therefore they were faced with thoughts of transplant. And it seems that anytime a family has been faced with MPS or other life threatening diseases and situations with their children, these parents know exactly what it’s like to think about their child’s mortality. So they were a nice sounding board and a compassionate and understanding ear. Another great part of the trip were the kids. Isaac, Trey, Gabriel and Avery got along well and had such a blast playing. They were wired and happy from dawn till dusk.
In terms of appointments, next week we see our Homeopath, Naturopath, Osteopath, ENT, and Hematologist. We’re looking forward to seeing our ENT as we’d like to get Trey’s tube surgery appointment moved up as much as we can. Right now our appointment is on November 29, and we’re hoping Dr. Moxham can get it done sooner. After Trey’s ENT appointment we are meeting with Jayne from the BCCH Foundation. She has organized a photo shoot for Trey, so that they can put pictures of Trey in their magazine, on their website etc. They’d like to be able to add pictures to his story since we’re now telling Trey’s story as a part of helping the Foundation raise money (like we told Trey’s story on the Silk FM Radiothon in Kelowna). We’re also looking forward to meeting our Hemoatologist, Dr. Schulz, as we’ve never met him before, and he’s the transplant doctor we’ll be talking to at BCCH. We want to find out what he has to say about transplant and we also want to talk to him about how a transplant could possibly get funded if we did it at Duke.