MPSIIFund News

Happy Holidays! It’s been a while since I’ve updated. Here’s what’s new: another boy started ERT for Hunter Syndrome last Wednesday at BC Children’s Hospital. I consider this big news as kids around Canada are still being denied funding for Elaprase. We are so fortunate to live in BC and so fortunate that our government has agreed to fund Elaprase for us.
Other big news is that an Intrathecal (IT) trial for Hunter Syndrome will be starting in the spring of 2008 in North Carolina. With Intrathecal Therapy, the enzyme that kids with Hunter Syndrome are missing will be injected directly into the brain to help the effects of the missing enzyme on the brain. As far as I know, Shire HGT (Human Genetic Therapies) will begin the search for candidates in January. The trial will only be done on kids who have CNS involvement, so fortunately for us, at this point, Trey is not a candidate. If at some point Trey’s development begins to decline (which Dr. Escolar gave us a 99% guarantee it will not), he would then be a candidate for one of the subsequent phases of the trial. It is also great that Trey is not a candidate at this point as the first phase of the trial is a safety phase and not one that I’d be jumping for Trey to be a part of… although if he demonstrated CNS involvement, we’d do anything we could to get him in the trial. We’d also want him to be a part of the trial because of how hard it is to get rare drugs for rare diseases funded in Canada. If we had to wait for a trial to end and then fight for Trey to get the drug in Canada, it would almost certainly be too late for the drug to be effective. This has happened with families fighting to get Elaprase in Ontario. I cannot even imagine.
Recently, Trey has been to see his Rheumatologist, his PT & OT, his osteopath, and his ENT. Trey’s joints continue to have good range, the fluids in his head and body are continuing to move much better than before he began ERT, and a check up yesterday with Trey’s ENT told us that Trey’s new tubes are in, doing well and his ears are clear of fluid. Everything is going very well. Trey has a check up with his Orthopedic doctor in early January.

On Tuesday, October 30, Trey and Avery’s baby sister, Sadie, was born in the water at home into the arms of her dad. I began having contractions at 4:30am, but they were not regular and I was able to sleep and nap through them until 2pm. My parents came at 3pm, the midwives came at 4:15 and my sister came by 5pm. I dilated to 7cm pretty quickly, but was stuck in transition for what felt like forever. Sadie was born at 7:12pm, and it was then I found out why she took longer to come out and was more painful than Avery’s birth. She was posterior.
Trey and Avery were great through it all, though they did have a few teary moments. Leading up to her birth we watched many many videos and talked a lot about what would happen, so they were prepared and knew I would be loud etc etc etc. Ryan caught her out of the water and Trey cut the umbilical cord. Both boys are so excited to have her around and smother her with kisses and hugs anytime she is awake.
And onto Dr. Escolar and UNC. What a stressful experience it is. Trey and Ryan had to fly for over 10 hours to get there and NC is 3 hours ahead of Vancouver, so by the time they arrived in NC, rented a vehicle, and checked into the hotel, they had less than 10 hours to sleep until they had to get up and be at an appointment in which Trey needed to be on his game (kids Trey’s age need more than 10 hours of sleep at night if they’re not napping). And Trey hates flying.
I spent yesterday wondering how the travel was going… was Trey upset getting on the airplanes, were any flights delayed, did they catch the connecting flight, did they get their luggage (last trip our luggage was lost), did they make it to the rental place before it closed (it closed at 12:30 and the flight arrived at 11:30), did Trey get to sleep early enough to spend 4-5 hours doing the development testing the next day…
And this morning I woke up and couldn’t get back to sleep because I knew they were in the middle of testing. I waited for their conference call at 9:30. They called but weren’t finished testing, so they said they’d call around 12. At 12 I began waiting. And thinking and waiting and thinking. Waiting is not fun. They called at 1. And then Ry called to give me the low down while they were on their way to Whole Foods.
So here it is: Trey is doing great. I won’t go into crazy details, but he’s doing wonderfully. His visual reception skills jumped a ton. He gained 16 months of skills in 6 months. He’s in the 79th percentile there. In language understanding he gained what was expected. His expressive language gained 8 months in 6 months. His fine motor skills only gained 2 months in 6 months, but last time he had a huge gain in that area, and Dr. Escolar said that kids/people may work on one area of skills more than others in a given time. He is still well within normal for his age in this area. His gross motor is beyond the point of the test, so all she could say there is that she is not concerned. Cognitively he is doing well. He is learning at the same rate as he was 6 months ago and his IQ is good.
She wants us to continue to monitor his hearing closely as his articulation is not great. He also has trouble with sequencing and localizing his fingers, but this can be a problem area for kids his age who do not have Hunter’s so she’s not concerned. All of this tells her that Trey is okay. She won’t guarantee us anything until he turns 5, she said, but she did say that the closer he gets to 5, with every six months that goes by, the chances of him having CNS involvement drops. Most kids’ (with Hunter’s) development has started to drop by now.
Ry called minutes after our conference call. It was so nice talking to him… relieving. And just to hear his voice. When I talked to Trey I cried. I’ve never been away from him for this long, and other than this past week when I missed a PT/OT appointment and his ERT, I have never missed an appointment of Trey’s, not to mention a test across the continent and one as stressful as this one. Well, it’s over and now I can just plain miss them and they can go play… they’re going to a kids play place tomorrow as well as a UNC basketball game. Whew.

Trey had a successful tube surgery yesterday morning. Both of his previous tubes were out, so Dr. Moxham replaced them with permanent T-tubes. His left ear had some thin fluid in it, but his right ear was filled with a lot of thick fluid. Dr. Moxham got all of the fluid out, but his right ear required quite a bit of suctioning, so his ear is draining some blood tinged fluid. I’ll give more details in my blog, but all in all, a great and easy surgery…once the anesthetic wore off, he was back to his normal self.
We also received awesome news from Trey’s physiotherapist (PT) last week. For about the past year, Trey’s PT has been closely monitoring his joints, as he has been losing range in areas such as his ankles, elbows, wrists, knees, and shoulders. Two appointments ago, Trey’s range had increased a bit, but his PT didn’t want to say too much about it as she had only seen Trey a few times (Trey switched PT’s in June, this one specializes in joints) and he could have just been more comfortable with her. However, Trey’s range has continued to improve. At this point, the range in every joint in Trey’s body has improved as much as 30 degrees and all but his right wrist and elbow are now within “normal” range for a kid his age. With a progressive disease, we are thrilled when things haven’t gotten worse, but to improve…especially when Trey is athletic as he is…we’re ecstatic.
And in more good news, the family from Quebec who has been fighting to get Elaprase for their son, Nathaniel, has finally received funding privately through their family’s health plan. This is virtually unheard of in Canada (private funding… well, funding for any rare disease, but especially through private insurance), I don’t actually know anyone who has received funding this way before, but they have done it, and we are so excited for them. The family in Ontario is still fighting.

Tube surgery #3, General Anesthetic #7. I’ve never had one. This is what I was thinking as my kid was crying in my arms when I was in the recovery room after his second anesthetic in less than a month and a half. All in all it went well. The old tubes got taken out, the fluid got suctioned out, the new permanent tubes got put in, and there were no complications.
However, it wasn’t overly great for Trey. If you’ve been following our journey, you know that after Trey’s first anesthetic I entered the recovery room after his surgery to Trey going ballistic. It took about half an hour to calm him down. Apparently he wakes up very fast from anesthetics. The next anesthetic Trey had, we requested to be in the Recovery Room before he woke up so this wouldn’t happen again. Didn’t happen. So we started going to the Recovery Room as soon as the doctors came out of the procedure to tell us everything went well. This does not go over well with the nurses.
We have been given every excuse in the book as to why being there early is not okay…we might interfere, we might cause problems for other kids in Recovery, if there’s complications getting the tube out of his mouth, we will be in the way…and we have also been threatened with being taken out by Security if we don’t leave “right now.” But we have continued to go to the Recovery Room before we are told.
Yesterday, because I didn’t want to fight and because I thought I’d give the nurses another chance, I waited to go to Recovery until the nurses called me. And guess what. Trey was hysterical when I got in there. I lost it on the nurse who was taking care of Trey. So I guess we’re back to barging our way in.
Poor little guy, he woke up while the tube was still in his mouth. Since he will likely have many anesthetics over the years, I’d like to keep them as positive for him as possible.
I also thought I’d mention that it was Ry and my second wedding anniversary yesterday as well. The reason I bring it up is because when I think about our wedding and the past 2 years, what blows my mind is how 4 monthes into our marriage, we were faced with one of the worst things parents could be faced with. I think about how at our wedding we were blissfully ignorant and had no idea. We had one beautiful monkey and another on the way.
And then bam. We were blindsided. Our marriage has been tested to the max and the cool thing is, we’re doing awesome. Ups and downs as usual, but we’re happy. Trey is doing brilliantly, as is Avery, and we have another monkey on the way! Life is…a journey. What a journey it is.
And lastly, the Stargate North Face duffle bags which were sold on Ebay, with the proceeds going to the MPS Society, made over $1,000. Wow!! Thanks again to everyone who was involved. We have some great people from Stargate on our side, so I’m hoping that their help may keep up. Even just for awareness. The more people who know about MPS, means the earlier kids will get diagnosed and the more people who will get involved in some way or other. It’s a great feeling knowing that the word is getting out. I want to keep it up!! Much love from all of us and thank you for checking in to see how we’re doing.

First, I will get the bad news out of the way. Ontario still will not fund Elaprase for Andrew Lanese, a boy with MPS II whose family has been fighting for monthes to get the drug for their son. And at this point, Ontario has made a preliminary decision to deny Elaprase to all of its citizens with MPS II. We hope they will reconsider. Especially since we (Vancouver) are hosting the International MPS Conference in June 2008. What a sad statement that our country will host this international MPS conference, but we do not have an Orphan Drug policy and we will not fund one of the drugs that will help save MPS patients’ lives.
I will take this opportunity though, to once again thank our government for coming through for Trey. Watching other families (we are also in close contact with a family from Montreal who is fighting hard to get Elaprase for their son) go through this battle, as well as seeing everything that Elaprase is doing for Trey, I cannot be anything but grateful. We are so thankful and appreciative that our British Columbia government decided to fund Elaprase for Trey. They have saved Trey’s life. I don’t know of anything there is to be more grateful for.
And in really cool news, I have gotten a few emails from Stargate fans. Where to start…I think it began when Ryan first started on Stargate Atlantis a season and a half ago (he’s the Steadicam Operator on the show and the cast and crew are tight knit and kind and wonderful), but it got much bigger leading up to and after our “Tacos for Trey” fundraiser this past May. Atlantis cast and crew came to our fundraiser and donated thousands of dollars. And the money kept coming in after.
Other acts of humanity and beauty have followed… one crew member from the costume department beaded a “Got Hope” shirt for us, which we have since framed and put up on our wall. Then last Friday, Trey won “$5 Friday.” For those of you who don’t know, every week, crew (I’m not sure about cast) puts $5 in a pot and whoever name gets drawn wins the money. I found out Friday after Trey won (I wasn’t sure how Trey could win, since he’s not a crew member) that a number of crew have been putting Trey’s name in the draw instead of their own, week after week. So Trey won over $300 last week, all of which will be donated to the MPS Society’s MPS II Fund. One crew member gave another an old computer and in payment, the person who gave the computer asked that a donation be made to the MPS II Fund. This kind of thing is seeming to happen regularly.
A month or so ago, Ryan also found out that the production, cast and crew decided to auction off on Ebay, some autographed North Face duffle bags used during the making of the movie, all the money made from which will be donated to the MPS II Fund. Wow.
The even neater thing is, I have been getting emails of support and people telling me they are making donations for Trey’s cause as a result of this… from all over the world…Liverpool, Omaha… I think it is so awesome and wonderful and generous what the Stargate cast and crew has done for us. It makes me cry. They have helped us raise awareness in a way that we could not have done alone (something about fame…) and they have helped us raise thousands of dollars towards finding a cure for Trey’s disease. And many of these people I haven’t met or spoken with for more than 5 minutes. It really does make me cry. And I know Ry’s shed a few tears saying thanks to everyone at work.
So thank you to everyone involved with Stargate… cast, crew and fans, who have helped us in our plight to raise awareness and funds for MPS II. Your generosity is most definately noticed and appreciated. I have never met such a large group who has no vested interest, with such big hearts. Thank you!!!

Where to start. I think a lot of it is due to the fact that I have very little energy being 32 weeks pregnant and all, but I think I’m also frustrated with MPS right now. The day after Trey’s hernia surgery, Avery got a cold (probably from hanging out in the hospital waiting for Trey…ahhh, hospitals). Fortunately Trey waited to get the cold until after ERT on Wednesday. Why ERT on Wednesday instead of Monday after surgery? Dr. Stockler and Mahmutoglu want to keep surgeries and ERT at least 24 hours apart so that if fevers or other things come up, it will be obvious what caused it. He got Ave’s cold Thursday morning, and that’s where it all started. Although Trey’s cold was at its worst Thursday night and Friday, it was still lingering Monday (as kids colds always do) when Trey was booked for ERT. He still had a runny nose and he coughed every hour or so. Trey’s doctors postponed ERT for the day and said we could try again on Wednesday. I was frustrated because I knew this was just the remnants of Trey’s cold and I knew it would last for at least another week. If they won’t infuse Trey with any sign of a cold, he will likely miss many infusions, and if this is the case, why were we going to come back again on Wednesday?
For over 6 monthes now I have avoided all places congested with kids so that Trey doesn’t get sick… Science World, the Aquarium, busy play groups… I feel badly for the kids because they love these places. But I also don’t want Trey to miss infusions. Anyways, we went back on Wednesday like we were told even though Trey had exactly the same symptoms as on Monday. To make a long story a bit shorter, they infused Trey that day, with Claritin and Advil, which he doesn’t usually get. Trey still has a raspy voice from his cold today…but, he has yet to miss an infusion in over 6 monthes. And Trey’s doctors have agreed to give me explicit instructions/directions/their protocol for when Trey will be infused and when he will not.
Then last Tuesday, August 28 we saw Trey’s audiologist. The tympanogram (it’s a machine that plugs into a computer and Trey’s ear that measures the size of the space in the ear…big number means ear tube is open, small number means ear tube is out or plugged) showed that Trey’s right ear tube was blocked (small number…she could see the tube in his ear, so assumed it must be blocked) and his left ear tube was open (big number). However, when she tested him and did the audiogram (Trey wears headphones and listens for sounds she makes in a soundproof room), his hearing was down in his right ear as expected, but it was also down in his left ear. This perplexed her. She asked us to come back in 2 weeks for a re-test to see if Trey’s attention was down on this day, meaning that he just wasn’t responding to the quiet sounds in his left ear, or if his hearing was actually worse. She also asked us to try and see our ENT between now and then to figure out for certain what was going on with his tubes.
Our great doctors and very helpful and agreeable ENT were able to set up an appointment for Trey to see Dr. Moxham this past Tuesday, September 5, right before Trey’s infusion. Dr. Moxham said that although Trey’s right tube is still in his ear, it is no longer in his ear drum (and therefore there is no longer a hole in his ear drum), and his ear is filled with fluid. His cold must have led to the fluid and resulting hearing loss. His left ear tube is still in. I can’t recall exactly what he said about blockage and fluid in his left ear, but I know he was also a bit perplexed because he ordered an audiogram to be done following our appointment with him for more information. This audiogram gave us our answers. It showed the same results as the previous week’s audiogram. His hearing was down in both ears. However, when the audiologist did a bone conduction test, Trey’s hearing was the same as his ABR which was done over a year ago (which is much better than his audiogram results). The tympanogram confirmed that both ears are blocked. All of this information together clarified that Trey’s hearing loss is in his middle ear (fluid) and is not an increase in permanent loss. This is great as is means Trey’s hearing is not getting worse, but it is frustrating because it means he has to have surgery again. October 1.
Trey is scheduled to have an abdominal and cranial MRI in December. However, because we are planning to see Dr. Escolar in November again and I’d like her to see the results, and because Trey has yet another General Anesthetic coming up, I asked about doing Trey’s MRI on the same day as tube surgery (to avoid putting him under one more time). I know it has been done and is possible (and is done often at other hospitals), but I was told we would be told it is not possible and it would be a fight to get it done. Yesterday I was told that the request had been made to do both together and was denied. It’s amazing to me…boggles my mind that for a kid who goes through so much, and when I know it is possible and has been done, they will still say no. Yes, I’m frustrated.
In other news, we saw Trey’s physio last week. This was the second time she has seen Trey. She does very detailed and specific measurements of his joints with a goneometer… she specializes in joints and arthritis. The majority of his measurements were better than a month and a half ago. She said that it is possible this is due to Trey being more comfortable and relaxed with her, but his ankles have gained quite a bit of range, so any way I look at it, this is good. Even if his measurements are better because he’s more comfortable with her, and not because he’s gained actual range, this does mean he has not lost any more range.
And last but not least, getting elected to the MPS Society Board is pretty great. We had an Annual General Meeting, a Board development meeting, and a Board Meeting in the last weekend of August. It was really nice seeing all the people I met for the first time at the MPS Society Family Conference in July 2006. And although I didn’t get a chance to bring up what I wanted, hopefully I will get an opportunity to do so at the next meeting in November. I did, however, learn a lot and I have a lot of ideas I hope I can bring to the Society.

I am blown away by the difference in Trey from his last hernia surgery to this one. Three monthes ago, when he had surgery for his umbilical and left inguinal hernias, Trey took days to recover. He was miserable, clearly in a lot of pain, he refused to walk for over 24 hours, we had to keep him medicated for 2 days continuously or he was almost screaming, he had a fever…it took him a good week to get back to his usual easygoing, happy self.
This time, Trey walked upstairs after a nap (4 hours after surgery) to tell us he was awake. We thought his nerve block (like an epidural) must still be working because he seemed so pain free, but the nerve block makes you unbalanced and he seemed to be walking okay. We waited a while to give him Tylenol because he seemed so fine, but gave him some anyways about 2 hours after we were supposed to, just incase. We gave him one more dose of Tylenol before bed so he’d sleep well.
Well, not only did he spend the day walking around the house yesterday (with a bit of a limp), asking to go to the park with his mood as easygoing as usual, but he slept through the night without needing anymore Tylenol. I don’t know what made the difference, but it is such a relief for us.
Last time it was so hard to watch Trey take so long to recover. Surgery is hard for parents anyways, at least us. I think often about the fact that Trey has gone through more in one year than I and most other people have gone through in our entire lives. He’s such an awesome kid. I also want to extend another thank you to everyone who participated in “Tacos for Trey.”
Recently, a friend from Ryan’s work who’s in the costume department (Ry’s in the film industry), beaded all of the wording on a “Got Hope” t-shirt (front and back) and gave it to me. I had no idea he was doing it and was completely surprised. It is beautiful.
Ever since Trey’s diagnosis, and especially at “Tacos”, we have been amazed at people’s generosity and kindness. I do not have room in my blog to tell you all about the little and big things people have done for us that have touched our hearts deeply. Donations, volunteering, flowers, calls, emails, medical advice, words of hope and support. The list goes on and on and on. We want to say thank you. We wish we could express to each of you individually what you have done for us, but it would take years because we have received so much love and support. We hope you know what you have done for us because we are so grateful and will never forget.

We spent the last part of June, all of July, and the first part of August at my mom’s and grandma’s cabins at Cultus and Okanagan Lake, which is why I haven’t updated much. It was a blast and is the first extended amount of time in a long time that we have been able to enjoy ourselves without a whole lot of stress. We played at the beach, swam, went to the park, picked up bugs, caught fish and learned to play badminton. Of course, we came back weekly for Trey’s infusions.
So here’s what has happened while we were away:
In mid July we noticed Trey had another hernia, this time a left inguinal hernia (his last hernias were right inguinal and umbilical). It began popping out after Trey had been running around for a long time and didn’t seem like a big deal. At first I was hoping to put off surgery for as long as possible, since his last hernia surgery was less than 2 monthes before we noticed the new one and because it didn’t seem to be causing any discomfort. Since then, however, it has started causing Trey pain and he doesn’t want to do any extended walking or a lot of running. He’s cut down on his level of activity in a huge way and it’s causing him to be a bit stir crazy since he wants to be doing so much more.
We saw a surgeon today and should have a surgery date within a few weeks. It is very frustrating to say the least (as having your kid get put through numerous anesthetics and surgeries is awful), but there’s nothing we can do about it and in the scheme of all things related to Hunter Syndrome, a hernia surgery is no big deal.
Trey has also now been on ERT for 6 monthes. Yahoo!!! I will forever be appreciative for how quickly we were able to get Trey on ERT, especially after everything we’ve noticed in him as a result. We saw his growth charts at the hospital today and his growth is motoring along. When he would have stopped (or significantly slowed) growing by his third birthday without ERT, Trey’s height continues to follow the 95th percentile. His features are soft…I’ve said all this before. I am just so happy how much ERT is helping.
Six monthes of ERT also means that Trey has virtually no chance of having a serious reaction and because of this, we have made some helpful changes to his infusion day. Trey no longer has his blood pressure or temperature taken during naps which is nice because those would wake him up, and his post infusion wait has now been reduced from one hour to 30 minutes. Although these changes don’t seem huge, when we do this weekly, it makes a difference.
Speaking of ERT, we received some crappy (I have other words in mind, but won’t use them here) news from friends in Ontario. Their son, Andrew Lanese, about whom there is an article in the Media section from April 21, 2007, was denied funding for ERT for the second time.
Andrew was diagnosed with Hunter Syndrome before trials for Elaprase began, but was not included in the Elaprase trials. He is now 10 years old. As a result, his parents, Sonia and Nick, had to wait for the trial to begin, to be completed, they had to wait for FDA and then Health Canada approval and after years and years and years of waiting to save their son’s life (we didn’t even have to wait a year between diagnosis and Trey starting Elaprase so I can’t imagine), they were told that his life is not worth saving. At least not for the cost of Elaprase.
I cannot fathom their frustration and am deeply saddened and disappointed by the Ontario government and by Canada’s unwillingness to help families with rare diseases. To read more, visit his website at: http://www.caringbridge.org/visit/andrewlanese
And last but not least, Trey’s splints are causing blisters so we have an appointment to get them adjusted tomorrow. They are not an enjoyable device. He does not like them even though he is an incredibly easygoing kid, and they disrupt his (and therefore our) sleep. But again, in the scheme of things, this is no big deal. He is adjusting to them, just not as quickly as I’d hoped or expected. Otherwise things are rolling along. We’re back in town for the remainder of the summer and just hanging out and enjoying life. Thank you to all who continue to support us in our journey. It means so much to us and keeps us strong.

As I mentioned in the News section, Dr. Stockler came to visit us at the MDU during Trey’s infusion on Monday. We discussed Trey’s recent series of tests as well as Trey having been on ERT for six monthes (as of August 5…yahoo!!). My biggest questions from Trey’s recent tests were about his heart. The cardiology report (after Trey having had an echo and electrocardiogram) stated that he has trace mitral valve regurgitation (MR) and his left sided valves are slightly dysplastic. Last year I was told that Trey had mild MR, but it was not written in the report. This made wonder. Apparently, the amount of MR that Trey is reported as having, is considered normal (for anyone). As long as it does not get worse, this is nothing to be worried about and because it is so insignificant, one year he can be recorded as having mild MR, another year trace MR and another year no MR. As long as the MR does not get worse, he is doing fine. I also found out that Trey does not have enlarged ventricles, which is great news, and that the slightly dysplastic valves mean that they have a slightly diffferent shape. Again, this can be considered normal, and if it doesn’t get worse, he’s fine.
We also talked about Trey’s abdominal ultrasound report. Dr. Stockler expects that Trey’s liver will continue to shrink. After all, he’d only been on ERT for about 4 1/2 monthes when the ultrasound was done.
Lastly, we talked about Trey reaching the 6 month mark of ERT on August 5. The six month mark is a bit of a milestone because although it is possible for mild reactions to occur after the six month mark, serious reactions have never happened beyond this point. I was curious in finding out about not having Trey’s BP and temperature taken during naps (they wake him up) as well as ways to possibly shorten the day…I was wondering about the pros and cons of increasing the rate, shortening the 1 hour wait time after the infusion is over, being able to call the MDU from home in the morning on the day of his infusion to order the drug if he is healthy…stuff like that. Although they will stop taking Trey’s temp and BP during naps after August 5, they are hesitant to make any other changes. I have emailed Dr. Muenzer to ask him for his thoughts on all of this. When I know more, I will let you know.

MPS Society Welcomes New Enzyme Replacement Therapy for Rare Genetic Disease – MPS II (Hunter syndrome)