MPSIIFund News

I’ve had a weekend full of MPS Society meetings: a tour of Dr. Lorne Clarke’s medical lab at BC Children’s hospital where he does research on MPS (bone and joint research, biomarkers, and more) in mice, annual general meeting, board meeting, and board development meeting! It was great. Dr. Clarke did a talk on MPS research, how it’s going and where it’s going. That was fascinating because what it all comes down to is that there is still so much unknown. GAGs build up in the body because of the missing enzyme in kids with MPS, but it is not the GAG storage that causes all the damage. The GAGs lead to problems in cholesterol and other bodily functions that I can’t recall (I had Sadie with me and she did not let me take notes!), which is what actually leads to damage. Dr. Clarke also talked about how related diseases are to each other, especially genetic and rare diseases, which has led to medical centers beginning to have open concept research labs so that researchers can talk and interact with one another. In the brain of a child with MPS III (MPS III affects primarily the brain), their brain appears almost exactly like that of a person with Alzheimer’s. I knew some of this stuff, but hearing it again always gets me excited to give away money for more research.
So with that said, yesterday, Ryan, myself and the board approved giving a $50,000 research grant from the MPS II Fund to Dr. Muenzer at UNC, Chapel Hill, in MPS II gene therapy. I’ll put the lay person’s summary in the ‘Grants’ section, under the ‘Events & Donations’ tab. How MPS II Fund research grants are given is: the MPS Society issues an RFA (request for applications) for MPS II research. Our deadline for applicationms was July 30. After applications are submitted, they are sent to Ryan and myself and to the MAB (medical advisory board). In this case, three doctors reviewed the grants (always independently of each other) and submitted their reviews to Ryan, myself, and the board to make a decision.
I’m so excited about all this stuff i want to go to the International MPS Symposium in Australia in June 2010. But, Ry’s working, so I don’t know if I’ll be able to. Anyways, the weekend was great and has gotten me excited about ‘Tacos for Trey 2010’ on May 1 next year. I want to raise more money than ever!!
I hope you’re all well. I’m still riding the high from the information we got from Dr. Muenzer about Trey’s development and brain back in July. Best news of my life to date.

Watch this: http://www.storyofstuff.com
The above link is not about MPS II or Trey directly, but I figure that as long as I have hope that Trey will live a long and happy and fulfilled life, the above film matters for him, you, and all the other kids we care about.

I have been thinking about this post for years. And right now I am probably too overwhelmed and exhausted to do it justice. But I’m going to try anyways. Since Trey’s diagnosis, I (I won’t speak for Ry) have been in a holding pattern. We have been told that Trey likely has an attenuated (mild, aka. the brain is not affected) form of Hunter Syndrome, we have been told that he has a severe form of Hunter Syndrome. From my perspective (and I think most other parents who have kids affected by Hunter’s as well), the difference between these two forms of Hunter Syndrome is like the difference between night and day. One, you child has physical problems and differences, but is otherwise able to lead a relatively normal life (lifespan in the attenuated form varies because it depends on the degree of physical disease the boy/man has and now that ERT is available, it is expected that lifespan will increase dramatically). The other form, your child starts out and spends a few years developmentally okay, but then plateaus and begins to regress until they are in a vegetative state and pass away in their second decade of life.
For over three years, we have not known which path Trey will take. Waiting. Holding pattern. Fear. Trey is an awesome kid, is doing well, and all along I have believed in him. But when you are given this information, there is often a little reminder in the back of your mind. When Trey didn’t make it to the toilet in time, when he hit his brother, he has a great deal of energy, more than lots of other kids his age, the way he learns is just a little bit different from what is typical… is this Trey or is it severe Hunter’s? Every day, sometimes every few minutes, this question.
When Trey was first diagnosed, I taped everything I could that he did, so that if he died I would remember. Long before Sadie was born, one of my biggest fears of Trey’s brain being affected is that Avery would not remember Trey when he was this awesome, protective and helpful big brother. I spent hours writing down the things Trey did so that Avery could read it later. Once I turned that corner and began believing in Trey, I did not feel the need to do those remembering sorts of things, but I have always had that voice in the back of my head. Always. Some days much worse or better than others, but for over three years it has been there.
About 2 hours ago I got off the phone with Dr. Muenzer and his study coordinator, Heather. They had the results of Trey’s neurodevelopment tests, performed as a part of assessing whether or not Trey would be a candidate for the Intrathecal Trial happening at UNC. The IT trial involves putting a concentrated form of the enzyme people with Hunter’s are missing into the brain and is intended to help the brain and prevent and stop developmental regression in the severe form of Hunter’s. Normal development is between an IQ of 70-130. Candidates for the trial need to be between 55-70 IQ. In the past, Trey’s IQ has been within the ‘normal’ range. The last time he was assessed was May 2008. Dr, Muenzer said that this assessment would be telling. He judges that if, between age 5-6, development has not started to decline, a child with Hunter’s will remain developmentally intact. Trey turned 5 in March.
Trey’s IQ/DQ based on the tests done on Wednesday has not declined and remains within ‘normal’ range. Dr. Muenzer expects his development will be fine. He says that he does not have a crystal ball and cannot predict the future, but he does not expect Trey will ever be a candidate for the IT trial. When I went over this scenario in my mind, I imagined I’d be overwhelmed with happiness. Overwhelmed, yes. Incredibly happy, yes. What I didn’t expect is this: I have been living on hold for so long and living in fear for so long, I don’t know what to do.
I had to ask Dr. Muenzer and have started telling myself that all of Trey’s ‘differences’, like: energy, the different way he learns, sometimes waiting too long before he goes to the toilet so that he barely or almost makes it… they are all ‘normal’ kid things. I can approach them like I would any other kid. I have done this mostly, but I have not done it completely, wholeheartedly. It has always been done with fear. So I can start reading about kids in school who have high energy? I can read about all those things that people with high energy excel at over people with less energy? How easy and beautiful and wonderful is that? Really? Really?
It’s hard for me to believe. Can I finally let go of that fear? I think that to be sure, I want to have Trey’s development tested in 6-12 monthes, one last time while the IT trial is still open. To be sure. It seems a bit messed up, given the information I just received, but it also seems like a smart decision, seeing that there is a trial open for brain related problems.
It is hard to believe we are here, at this point in time. I feel like I am in one of those movies where one person is telling the other: “It’s okay… you can let go now… it’s over.”

I spoke with Dr. Muenzer today. Trey, Ryan and I will be traveling to UNC for developmental testing done by Dr. Muenzer’s team on July 19. Testing will happen on July 21 & 22 and we’ll travel home again on July 23. There are a lot of feelings about it and a lot is going on in our life right now, so I will save details and blogging about it for another time.
I also got our final ‘Time for a Cure’ tally. We raised $13,000!!!!! Thank you again to everyone who supported us! We currently have a $50,000 MPS II Research RFA (Request for Applications) out, the deadline July 30. I know of two excellent researchers who will be applying for the grant, so I am really excited. This is what our fundraising is all about: research and a cure!!!!!!!!!!!!! So thanks for helping us be able to put out RFA’s so that brilliant researchers can apply and we put an end to this disease!

A few monthes ago, Trey’s speech and language pathologist’s husband, Salim, approached us with the idea of doing a bike race and raising money for Trey. Blown away that he would even think of the idea, we, of course, said yes. However, it is a big committment, and I never expected him to follow through with it. Well, he did. His race is this Saturday, June 20, and he has already raised over $1,300 for the MPS II Fund. If you’d like to learn more, you can go to our ‘Time for a Cure’ website: www.timeforacure.ca and click on Salim Hirji.  So, here’s to Salim and everyone who has supported him:
To everyone who participated in Salim’s ‘Test of Metal’ fundraiser, thank you so very much. As you may know, Ayasha, Salim’s wife, is Trey’s speech language pathologist. Over the past couple of years, Ayasha, Salim and our family have become close. Salim is the first person who has taken it on to do a fundraiser for the MPS II Fund, that we have not organized. I cannot describe in words what this means to us, that someone other than us cares enough to spend their time and energy on our cause. Trey. And a cure for MPS II. So, thank you Salim, for your huge and generous heart (and aching muscles!!), and thank you to everyone who has supported him. You are our family now!!
On a completely separate topic, I spoke with Dr. Muenzer’s trial coordinator for the MPS II Intrathecal trial today, Heather Priess. Next week, she will begin calling families to set up testing at UNC for Shire’s upcoming IT trial. For those of you that have been with us all along, you know that for two years, we traveled down to UNC to see Dr. Escolar for developmental testing every six monthes. The last time we went was in May 2008, when she told us the same she had been telling us for two years. Trey is within normal range for everything, although on the lower end in speech and language and fine motor skills. She said she could not give us a guarantee that his development would be fine until he turned 5. So, knowing the IT trial was coming up around the same time, we decided to travel to UNC one last time, when Trey was 5, for intrathecal trial testing. Dr. Escolar is no longer involved with the trial, but we will be going down to see Dr. Muenzer’s team at UNC, when Shire opens up the trial for development testing, probably some time this summer or early fall.

As I mentioned in the news section, I watched a documentary on CBS NewsWorld called ‘The Disappearing Male.’ It is worth a watch. I mentioned the documentary to someone this morning who said: ‘I don’t have 45 minutes to watch it.’ I say, forgo CSI or whatever it is you were going to watch tonight, and watch this. It is about the thousands of chemicals in our world that have not been tested for safety and are proving to be toxic to our selves and our environment. Sure, we’ve heard it all before. Bisphenol A in baby bottles, phalates in baby toys… we know… PLASTICS ARE BAD… but, its effects are being seen. Boys are not being born at the same rate that they were. An industrial area in Ontario has been described as the example of our extinction. The ratio of boys to girls being born in that community is something like 1:4. Elsewhere, rates are better, but they are not good. The boys that are being born are also affected. Their testes are not dropping which multiplies their chances of infertility by 7 and cancer by 8. Their genitalia is significantly smaller and many more boys are being born with genital deformities. In college aged men, compared to their dads, their sperm count is down by half, and of the sperm that they do have, 85% are defective. The chemical industry, like the tobacco industry, is advocating hard to keep these toxic chemicals in use. The only way we can stop this is by our own action. Please, for the sake of your children, grandchildren, and unborn children, watch this documentary.
http://www.cbc.ca/documentaries/doczone/2008/disappearingmale/

Yesterday was an ‘I’m a good mom’ day.
After hearing about a documentary called ‘The Disappearing Male’, the link for which is in the next blog, I got on the phone with BC Children’s Hospital and Cardinal Health, the company who provides tubing for infusions for the hospital. I was and have been for a while now, concerned about what the tubing Trey receives his infusions through is made from. After spending hours getting to the bottom of this (to which Trey’s nurse at the hospital asked: “How do you have time for this when you’re moving on Saturday?” and I responded with: “Once I get scared I cannot rest until I get to the bottom of my fear… so packing can wait.”), I was beautifully and pleasantly surprised.
The tubing Trey receives his infusions in is a low sorbing line made on the outside from PVC, but on the inside from polyethylene, which is a safe plastic. Excellent. Trey’s rescue line, the line which is set up in case of reaction, but not used otherwise, is made from the more typical and standard line used, which is made from PVC. Taken from an earlier post, at which time I found out Trey’s ear moulds are made from PVC, here is a description of PVC:
Phthalates are a class of chemicals used as softeners, or plasticizers, in polyvinyl chloride (PVC, vinyl) products, including children’s toys, decorating and building products, and blood bags, and solvents and other additives in a wide range of consumer products, including cosmetics, personal care products, wood finishes and insecticides.
DEHP and DINP are used in flexible plastic and vinyl toys, some teethers, food packaging and cling wraps, medical devices, backpacks, shower curtains, building materials such as pipes, vinyl flooring and wallpaper, and other products.
DBP and DEP are used in some adhesives, dyesinks, mosquito insect repellents, plastic plumbing pipes, and personal care products such as nail polish, skin moisturizers, and perfumes.
Note:  The carcinogenicity of DEP, DBP and DINP to humans is unknown at this time.
Health Effects
Immediate Health Effects
If SWALLOWED, phthalates is Slightly Toxic
If ABSORBED THROUGH SKIN, phthalates is Moderately Toxic
If INHALED (SNIFFED OR BREATHED IN), phthalates is Slightly Toxic
Longterm or Delayed Health Effects
This chemical is likely to cause cancer.  It is considered a Probable Carcinogen by the World Health Organization, the U.S. Environmental Protection Agency, or another agency.
Allergen
Suspected Endocrine Disruptor = May interfere with, mimic or block hormones
Development Toxicant = Can interfere with normal development of a fetus or child
Reproductive Toxicant = Can harm reproductive system
What I found out yesterday is that the reason PVC is toxic is because it contains a phalate (plasticizer) called DEHP. However, the PVC used in BC Children’s Hospital is DEHP free. Research into and awareness about the toxicity of plastic is so widespread (which is scary, but wonderful at the same time) that Cardinal Health has made and BC Children’s has purchased a product that is free of the toxic phalate DEHP.
I have been worried for a long time that the tubing Trey receives his infusions in was made from toxic PVC. I am thrilled that I took the time to get to the bottom of this and that the news is excellent!!

We received some more excellent news yesterday. A few monthes ago, when Trey’s coach and Vancouver Minor Baseball found out about Trey’s difference and our ‘Time for a Cure’ fundraiser, they decided to make a $500 donation to the MPS II Research Fund. In the words of one of the board members when they made this decision: “…He’s one of our kids, and Vancouver Minor should be doing something about it…”
That was the first email from Trey’s baseball coach that got me teary. Below is an email I got from Steve yesterday:
Hi guys,
I just called your house.  I was hoping to catch you before I leave the office.  I’m out at a class tonight and won’t be home until quite late, so maybe we can connect tomorrow.
What I want to talk to you about is our plans for Saturday.  As you know the league has decided to make a donation of $500 to your fund.  We were looking at making a presentation on Saturday at the league wrap up party.  There’s another part to it that I haven’t let you in on yet and I just want you to have a heads up.
When all of the teams are on the field on Saturday for the awards, awards will be handed out for most improved player and MVPs of each division.  This year we’ve added a new award and for the first time ever, we will be awarding a league-wide MVP.
It’s going to be awarded to Trey.
We have a special trophy for him and we will have our donation in an envelope at that time as well.
It’s unfortunate that this is all landing on a day that you are moving, but wanted you to know what will be happening as I’m sure you wouldn’t want to miss it.
I’ll talk to you guys soon.
Steve
Needless to say, every time I read it I cry. Trey is an awesome baseball player, which makes this award exciting for him (and us!) to receive, but with everything that has happened to Trey in his life so far, and that he can still be so gifted and get an award like that… I’m a proud and happy mum.

Trey had an opthamology appointment today. He REALLY didn’t want to go. I had to drag him out the door and into the van. However, our wonderful afternoon began with finding free parking!! This almost never happens at BC Children’s hospital and parking is not cheap!
What happens at opthamology appointments is an opthamologist checks part of Trey’s eyes and vision, then put drops in, we wait 30-45 minutes, then the doctor checks the rest of his eye. It was a beautiful hot sunny day, so after we had our initial visit with the doctor, Trey and I went outside and played football on the grass outside the hospital building. We had a great time. Rare is it to get one-on-one time with my big guy.
The opthamology visit was brilliant as well. Today was the first time they tested his vision with the alphabet and he did great! He was patient and listened to the doctor and everthing. His vision is fine, nothing to worry about, so we go back in a year. And he knows his alphabet!
I wasn’t concerned about Trey’s eyes, as eye problems with Hunter Syndrome as far as I know, are rare. The great thing about today was how well he did during the visit. My guy is growing up!!