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February 4, 2009
It took three tries to get Trey accessed on Monday, the first time using his new VAD. The first time, Trey’s nurse, the head of the Medical Day Unit where Trey gets his weekly infusions, could not flush any saline or draw any blood. It seemed stuck. So she took the needle out. The second time, there was a strange tinge of blood that came out when she accessed him, but she could not draw any more blood and when she pushed the saline in, his whole chest started to swell. That was a bit scary, and then when she pulled the needle out, the saline dripped out of the hole (the saline was being pushed into the tissue surrounding his VAD). At this point, Trey’s nurse called the head of the IV team at the hospital and asked her to come up and try accessing Trey’s VAD. To give her the best chance at getting Trey’s VAD to work, the IV nurse used a 1 inch, 18 gauge needle, which is significantly bigger than his usual 3/4 inch, 22 gauge needle. By this time, we’d been at the hospital for quite a while and I was really worried we were headed for another surgery, so when it worked on try number three, and the IV nurse was able to get blood return and flush saline, we were all ready for a party!!
 
Almost all of our local family and a few hospital staff and friends came to the MDU this past Monday, February 2, to celebrate two years of Trey being on ERT. Grandma Gayle brought balloons, Terra from the BC Children’s Hospital Foundation brought capes for the boys and a toy kitten for Sadie, Omi made a cake, Trey and Avery made cupcakes, and Sue brought a gift for the boys and a donation for the MPS II Fund! It was lots of fun and a great way to spend the day at the hospital!!
 
I’ve also gotten around to writing another blog, about the two anniversaries we have in February. Click here.
 
January 26, 2008
Trey is home from the hospital and doing well. We got a call from the hospital this morning asking us to come in earlier, so we were at the hospital by 10:30am and home by 2:00pm. There was not a crack in the catheter (the surgeon tested the VAD once he took it out of Trey). From what the surgeon could tell from seeing and testing the VAD as well as the series of x-rays taken last Monday, the fluid was backing up and coming out of the catheter, into the surrounding tissue, at the end/tip of the catheter. So either the catheter was blocked or came undone. Exactly what happened was not clear, but it was not a problem with the actual VAD.  The new VAD is on the opposite side of his chest, in the same place. The surgeon told us our options for the new VAD location (we also looked into what the VAD is made of, making sure it did not contain PVC), got an anatomy lesson in the process, and ended up putting it there. Trey was a mess when he initially woke up and didn’t improve until we left the hospital. Once we were gone, however, Trey was fine, and is now great, watching movies and eating homemade frozen yogurt. He just wanted out of the hospital. I am really hoping we get a break from Surgical Daycare, sedatives, and general anesthetics for a while. We’re all sick of it!!
 
January 22, 2009
Trey’s VAD replacement surgery is this Monday, January 29, 2009 at 2:00pm. His VAD lasted almost exactly two years. I have an appointment tomorrow with the pediatric general surgeon to discuss details.
 
January 20, 2009
Bad news first. Trey needs a new VAD. Usually, when Trey is hooked up for infusions, he sits and watches TV. He barely even notices the needle or when the nurses flush saline through his port. Yesterday, as Trey’s nurse was pushing saline into his VAD, Trey began to squirm and then as the nurse kept flushing, he reached for me in pain. After talking to the IV team and getting doctor approval, the nurses sent Trey down for a Line-O-Gram, or dye study. Radioactive dye is pushed through Trey’s VAD and then a series of x-rays are taken to follow where the dye is going (sounds healthy, hey?). Apparently there is a crack in the catheter, allowing fluids to enter the tissue around Trey’s shoulder. This is what was causing him pain. Trey ended up having his infusion done through his hand yesterday. We’re waiting for a call from general surgery and I’ll update when we know when his surgery date is.
 
There was good news though yesterday too! Thank gosh. Trey’s Biochemical Disease doctor finally got the “MPS” cardiologist to interpret all of Trey’s results since birth. The GAG build up and Mitral Valve regurgitation from his November 2008 appointment has not progressed from his January 2008 appointment!! This is great news!! More than great news. We will also now be having appointments with this cardiologist instead of going through Biochemical Disease to find out results, which is good.
 
January 13, 2009
We had Trey’s yearly check up this morning with the Orthopedic Clinic at BC Children’s Hospital. Trey was amazing. He had six X-rays of his neck and back done over about a 20-25 minute period and was unbelievable through it all. The X-ray technician would move him here or there, ask him to look up, put his arms down, etc etc etc and then tell him to hold the position. He listened so well and was so helpful. I was blown away. That was almost the best part of my day! The best part of my day was the news the orthopedic surgeon gave us. Although Trey’s neck and the kyphosis in his back have progressed slightly, he is in great shape and the diagnosis is still considered mild. I didn’t realize how in need of a good check up I was until today! With last week’s plastic surgery check up and today’s orthopedic check up, I’m thrilled! The two orthopedic doctors who saw Trey could not believe how great he looked. What a great day today is!
 
January 9, 2009
We had a check up yesterday with the surgeon who did Trey’s carpal tunnel release a few weeks ago. The news is great!! Trey can move his right thumb!! It wasn’t easy for him to do, and he still wasn’t able to touch his right thumb to his pinky, but he could connect his thumb with the rest of his fingers. The nerve must have done some healing in the past weeks. Awesome!!
 
Trey has also had some VAD excitement in the past weeks. For many monthes now, Trey’s VAD has given blood sometimes, but not others. However, Trey’s nurses were always able to get blood at least one out of every three times. Three is the magic number in the MDU. No blood three times in a row and an internal nurse alarm goes off. The infusion after Trey’s carpal tunnel release marked the third time in a row nurses were not able to draw blood from his VAD, so the nurses in the MDU decided to send Trey for an X-ray (I have done some reading about alternative ways to protect and heal the body from radiation such as x-rays, so if you’re interested, give me an email). After the x-ray showed that the VAD has shifted, but is still in place and is working from this mechanical point of view, we went back to the MDU and the nurses decided to do TPA (aka. Alteplase or tissue plasminogen activator). TPA is a drug put into Trey’s VAD to break up the fibrin which is the likely cause of Trey’s VAD allowing idursulfase in, but not blood out. The TPA was left in Trey’s VAD for one hour. After that hour, the nurses tried to draw blood, but nothing came out. They tried the TPA one more time, but to no avail. From what I can gather from what I’ve heard from other parents, and from what the IV team at BC Children’s hospital has said, as long as Trey’s VAD flushes well, the VAD should be left. I’m hoping that this VAD lasts a while, or at least until Trey requires another general anesthetic for another procedure.
 
The IT trial for MPS II is also upcoming, but I do not have enough information yet to post.
 
December 19, 2008
I forgot to mention that a few weeks back, Trey, Ryan, and I met with Dr. Stockler, the Biochemical Disease doctor who oversees Trey’s care, as well as Trey’s occupational and physiotherapists, Gay and Iris. Dr. Stockler initiated the meeting to discuss what they’re doing with Trey’s OT and PT and why. Gay and Iris are amazing because they are very humble and willing to collaborate, yet they are highly experienced and knowledgeable (they have won many awards for distinction in their field). They have never worked with a child with MPS before, so they have emailed Dr. Muenzer and Dr. Escolar, as well as spoken with Trey’s doctors up here about MPS II and their findings in Trey. It was a great meeting that gave Gay and Iris (and us) additional information and direction. Because MPS II affects bones, joints, and connective tissue all over the body, Gay and Iris have been keeping watch on all of his joints, with the aim of maintaining range and keeping everything functional. Dr. Stockler, having worked with older kids and adults with MPS II, suggested keeping an eye on his whole body, but paying close attention to his hands. This is where, she said, most older kids and adults have the most trouble; with fine motor activities, such as writing, doing up buttons etc. The hands have a huge impact on day to day life skills and Dr. Stockler wants to do everything she can so that Trey can be an independent person. She wants Gay and Iris, as well as Ryan and I, to do whatever we can to maintain and improve the range in Trey’s hands.
 
December 18, 2008
Trey had his carpal tunnel release surgery today on both hands. The surgery was successful in that the surgeon was able to do the release and take out the GAG buildup in the carpal tunnel, however, the nerve in his right hand has been compressed for so long, that she doesn’t think Trey will be able to move his right thumb again (she tested his nerves during the surgery and with the most juice, could barely get a flicker out of his right thumb). When we went for the complex upper limb consult on November 7, Trey was able to put his left thumb and pinky together, but he was not able to connect his right thumb and pinky. The plastic surgeon said she did not know if the surgery would help this or not because (from my lay person understanding) any nerve compression can lead to permanent damage which means that the communication between the nerve and muscles go and do not come back. The longer the compression, the higher the chance of permanent nerve damage. So it looks as though Trey does have permanent damage in his right hand. His left seems to be okay. And although Trey has never complained of pain, numbness or tingling in his hands (it was the nerve conduction studies that told us his nerves are compressed), which is common for all kids this age who have carpal tunnel, Hunter Syndrome or not, now hopefully, the numbness and tingling will be gone in both hands, and give him increased fine motor abilities. I have been told (and it makes sense to me) that this numb/tingling feeling in their hands is so normal for them, they do not know anything could be or should be different. I will post more about the whole surgery in my blog. If anyone has alternative knowledge or has tips on how to get damaged nerves back, please email me!!
 
In my experience, and from what I have been told, carpal tunnel testing for Hunter Syndrome in North America is recommended to start at age five at the earliest (Trey turns five in March). In Europe they start testing earlier. After Dr. Muenzer spoke at the International MPS Symposium in June about starting to test for carpal tunnel syndrome in Hunter Syndrome earlier than age five, I began asking Trey’s  doctor’s to test for it ASAP. They listened and here we are today. We were referred for nerve conduction studies in July and didn’t have carpal tunnel surgery until today. In addition, every single appointment we’ve had have been cancellations: the nerve conduction tests, the complex upper limb consult, and the surgery, and it still took six months to have the surgery done. So if I have any advice to newly diagnosed parents of an child affected by MPS II, it is: have your child tested for carpal tunnel syndrome ASAP. We caught Trey’s too late.
 
December 9, 2008
Trey will be having his carpal tunnel release surgery for both his left and right hands next Thursday, December 18. I got a call from the wonderful plastic surgery receptionist today, telling me that there was a cancellation and that Trey could have the date if we want it. The next available date would be February at the earliest, so we took it. I just hope that Trey will be able to open his gifts on Christmas morning in double handed splints!?
 
We also had a meeting today with two men from the BC government who were a large part in Trey being approved funding for ERT. Ryan and I requested the meeting to say thank you to the people who have, well, saved Trey’s life. Ryan’s mom, my dad and his partner, and my grandma and her partner came to say thank you as well. It was an amazing meeting with more than a few episodes of tears. More in my blog.
 
Last Wednesday, Trey had another hearing test. Although his hearing is better than it was a month or so ago, it is still not at the level it was at in July. I’m not really concerned because Trey’s hearing does seem to be affected for monthes after being sick, so his reduced hearing could still be a result of his recent colds, but it would be nice for his hearing to jump back up.
 
November 21, 2008
I had an appointment with Dr. Stockler today, so have many updates! Since diagnosis, Trey has had 3 cardiology appointments (echo and EKG’s). The first results were normal. In January 2008, his results showed thickening of the valves. Trey’s results from Nov. 3 also show thickening, but what they don’t say is whether these recent results are worse than or the same as the results from 10 monthes ago. Dr. Stockler is going to meet with the cardiologist in December and then meet with me to discuss.
 
Trey’s sleep study results are not entirely conclusive. We do know that he does not have obstructive sleep apnea, which is what the doctors are looking for (deposits of GAGs in the airway can cause this), and which is great news. His oxygen saturations never drop below 90. However, he is waking more times at night than he did during his last sleep study. If accuracy was 100%, these results would give us some useful information, but because Trey is expected to sleep in a strange place, with strange sounds, with wires hooked up to his body and additional wires trying to be placed on him while he is sleeping, Dr. Stockler cannot tell us definitively what is causing these sleep disturbances. What all this means is that at this point, there is nothing to be concerned about.
 
I also have news from the complex upper limb consult we went to a couple of weeks ago. It was very interesting. On a scale of 0-10, if zero is no carpal tunnel syndrome and 10 is severe, Trey is about a six or a seven. According to the doctors we saw, protocol is to recommend surgery for any nerve compression at all. The reason for this is because it is not known at what point the nerve compression will cause permanent damage. We are waiting for a surgery date, which will likely be sometime in the spring. Knowing that permanent damage could have already happened or could be happening as we speak, I would like to have the surgery now, but because plastic surgeries aren’t a priority, they do not get as much OR time as other departments, and as a result, we have to wait. All the doctors I’ve spoken to about this tell me there’s no rush, but it’s hard to be patient knowing that the longer he has carpal tunnel, the greater chances of nerve damage being permanent.
 
An interesting and useful bit of information I learned from Dr. Stockler today, which I have been wondering about since we were given our surprise (sooner) cardiology appointment as well as the carpal tunnel syndrome diagnosis, is why this is happening in Trey’s body while he is on Enzyme Replacement Therapy. Dr. Stockler said that Trey’s heart valves are made of the same tissue as the tissue in his carpal tunnel. These tissues do not receive as much blood (and therefore do not receive as much enzyme) as other parts of the body that respond quickly and well to ERT, so this is why they are not as responsive to the treatment.
 
Dr. Stockler also showed me a chart of where Trey’s urinary GAGs (build up caused by MPS) have been since he started ERT. Until he started his third vial in July/08, his numbers were up and down. They were much lower than before he started treatment, but they were not consistent. Since July, we have tested his urine weekly, and his GAG levels are quite low. They are still slightly above normal levels, but they are quite low and consistently there. That is great news.
 
Other awesome news is about Dr. Lorne Clarke’s biomarker research. To be honest, I don’t fully understand it all, but Dr. Clarke’s lab takes Trey’s blood and uses it to try and figure out the course and severity of Trey’s disease. Trey’s levels are very low. They are not normal, but they are very close. Compared to other kids around the world who are close to Trey in age and have been on treatment for a comparable amount of time, Trey’s levels are low. What does this mean? That compared to these other kids his age, his disease is not as severe.
 
And for one more bit of great news, the MPS II Fund within the Canadian MPS Society has enough money this coming year to fund its own $50,000 research grant! RFA’s will go out this month and the deadline is in mid-February. Have a great weekend!!
 
November 4, 2008
A local parenting and family magazine, West Coast Families, featured an article about Trey. Click here to read the story.
 
We received a bit of information about Trey’s sleep study. Apparently Trey does not have as many episodes of deep sleep as he did during his test two years ago. However, Dr. Stockler does not know yet whether these changes have an impact on Trey’s sleep quality or whether they are subtle and without any consequence.
 
Trey saw his ENT doctor yesterday before his infusion and had another hearing test as well. His ear infection is gone, but hearing has not changed from his last week’s appointment (which is not surprising), so they would like to test him again in a month. However, this morning Trey woke up with a runny nose (Sadie got a cold last week), so I’m wondering if there’s any point. I guess we’re starting another cycle of reduced hearing, hearing tests, possible ear infection etc. Yuck.
 
Trey also had his Echo and EKG done yesterday. No results yet. Because Trey has had so many tests with concerning results recently, I will be meeting with Dr. Stockler to go over them: sleep study, cardiology, carpal tunnel syndrome.
 
This Friday, Trey got in on a cancellation to see Plastic Surgery regarding his Carpal Tunnel surgery. The neat thing is, it’s called a complex upper limb consultation, so instead of me meeting with one plastic surgeon, I will be meeting with between five and fifteen doctors, residents and medical students from plastic surgery, orthopedics and other departments. The reason they are doing this is so that I can get many opinions at one time and so that they can collaborate on Trey’s case. I think this is an awesome opportunity and I’m excited I can be surrounded by so much knowledge at once!
 
October 28, 2008
Trey had his follow up hearing test yesterday. The really exciting news for me is how well Trey did in the hearing booth. My mom was with him and said he concentrated so well. The tests were done in short order because he was so cooperative. His hearing is also better than the last test, two and a half weeks ago, showed. His hearing is not as good as it was in July (his last hearing test before he got this cold), but it seems to be improving. The good news is, I doubt Trey has more permanent loss. The bad news is, any time Trey gets a cold, his hearing suffers for at least a couple of monthes.
 
We also found out yesterday that Trey has carpal tunnel syndrome (CST). I don’t know how severe it is at this point, but Trey is being referred to plastic surgery. I don’t think it is known definitively whether or not ERT helps with CTS. I think there is hope that it can prevent further build up, but I think there is consensus that it does not reverse it.
 
In cardiology news, Trey has an echocardiogram and EKG next week on November 3. Usually Trey has this done every year, but because Trey’s last echo and EKG showed some increased changes, Dr. Stockler wants to keep a closer eye on his heart. His last echo and EKG were done in January 2008. This was news to me, so I’m still adjusting.
 
October 21, 2008
In the past month and a half, Trey has had a number of tests, none of which I was really expecting. May is usually our busy testing month. However, starting on September 10, Trey had an MRI, a sleep study, numerous audiology appointments, osteopath, homeopath,  and occupational therapy appointments, and a long afternoon in the EEG department where he had VEP, SEP, BAER and EMG done. Below are some of the results. I’ll update others when I get them:
 
Trey’s MRI results are good. He has no hydrocephalus and there are no brain changes from the last test, which was over two years ago. His brain does look different than someone who does not have MPS, but this is to be expected and I knew this from the last MRI. These differences do not indicate CNS involvement or not. An MRI cannot at this point in knowledge diagnose CNS involvement. The general anesthetic also went well. The anesthesiologist said he would not be able to tell Trey’s airways apart from someone who does not have MPS. Excellent news.
 
We have not yet received the results from Trey’s sleep study.
 
In mid-September, Trey got a cold. It is becoming a bit of a trend that when Trey gets a cold, he gets an ear infection, which leads to antibiotic ear drops, hearing tests, reduced hearing (which has never been permanent, just a result of the infection and fluid) and more hearing tests. One great thing about this ear infection is that it is the first time Trey localized his pain and was able to describe what it felt like. He said a bee was stuck in his ear. Otherwise we would not have known his ear was infected. A week after Trey started his antibiotic drops, Trey’s ENT doctor recommended a hearing test  because the doctor thought Trey’s ear was clear, but he was still complaining of the bee. We found out that Trey’s hearing is between 10-25 decibals lower than it was in July. This could be because he’d had a sleep study the night before and got less than 7 hours of sleep, it could be a lingering infection or he could have more permanent loss (which I doubt). We’re retesting on October 27 (2 1/2 weeks after the first test). In other audiology news, Trey got new BLUE ear moulds, which are very exciting for him.
 
When I found out that Trey’s hearing is down, I made appointments with Trey’s homeopath and osteopath. Trey got a new remedy from his homeopath to help his ear infection pass and to help the fluid drain out. His osteopath said that his head feels very hard. There was poor movement of his temporal bones, which is necessary for good drainage, and Trey’s neck was also stiff, which impedes drainage from the head and neck. During the appointment Caroline was able to improve the movement of Trey’s temporal bones and reduce the hardness of his head. I’m hoping all of this helps so that his hearing is back to where it was at for his next hearing test.
 
Onto Occupational Therapy. We finally got in to see Trey’s OT last Thursday, at which time she made a splint for Trey’s right wrist. At his next appointment in November, we’ll discuss a splint for his left hand. Apparently in addition to helping maintain range, the splint holds his hand in a position that prevents his hands from curling, which prevents aggravating carpal tunnel (if he has carpal tunnel). She didn’t do any measurements this time.
 
Trey’s day of EEG appointments was hard. He’d had his sleep study the week before, so when I told him the night before his EEG appointments that they would be hooking leads up to his head like they did in the sleep study, Trey did not want to go. He also did not want to get put to sleep (they used a sedative- chloryl hydrate- for all the tests but the VEP). He also recalls how awful that is, apparently. He cried the whole way to the hospital and refused to go inside. I had to carry him. When I put him down, he bolted, and I had to run after him. Once inside, he calmed down. He had a VEP, BAER, SEP and EMG done, in that order. The Visual Evoke Potential (VEP) is a test that records the electrical signals of the brain while the child is watching a black and white checkerboard TV screen. A VEP shows if Trey’s brain is receiving information about what his eyes see. Trey needed to be awake for the VEP. With the intention of being timely, because chloryl hydrate takes time to take effect, the nurses gave Trey the sedative before his VEP, hoping they could perform the VEP before the sedative put Trey to sleep. Unfortunately, Trey fell asleep almost as soon as the leads were hooked up to his head, so the VEP did not take place. Trey had his Brainstem Auditory Evoked Potential (BAER) and Somatosensory Evoked Potential tests while he was asleep. The BAER is a test that records how fast a sound travels from the ear to the brainstem. The BAER does not test hearing. The SEP is a test that records how fast an electrical signal received by the nerves in the arms and legs travel up the spinal cord to the brain. Also unfortunately on this day, Trey woke up just before his nerve conduction studies or EMG tests started. I’ve never had it done, but I have heard it is uncomfortable. Both Ryan and I had to pin Trey down for this. It did get done though, which I glad for. I requested the nerve conduction studies to test for carpal and tarsal tunnel, as these are common issues in Hunter Syndrome. The other tests Dr. Stockler requested. I have not yet received the results from these tests, but will update when I do.
 
August 29, 2008
The Ontario government has approved Elaprase for boys and men affected by the non-neurological form Hunter Syndrome! Treating Hunter Syndrome in boys with CNS involvement is controversial and it is unfortunate they have decided not to treat this group, but that they have approved Elaprase for any group is a huge step in the right direction and absolutely fantastic news!! The relief these affected families must feel... it is awesome news for these families and all families in Canada affected by Hunter Syndrome and all rare diseases. It is a day to celebrate!! Congratulations and thanks to everyone who helped us get here!!!!!!
 
August 23, 2008
Tacos for Trey tallies are in!
Since April 1st, the MPS II Fund has received more than $57,000 - over $32,000 was raised through Tacos for Trey and another $25,000 through an anonymous donation. A very big thank you to everyone for your support!
 
In July, Trey completed a series of Speech and Language tests. One was new and quite comprehensive and the other one was the one he did at this time last year. The new test gave us more information as to Trey’s specific strengths and weakness areas, so his SLP knows in exactly what areas they can work in the future, and the other tests gave us a great comparison for how far he’s com in the past year. And it’s great news! Trey has gained 12 monthes of skills in 12 monthes for receptive language (what he understands) and he’s gained more than 12 monthes of skills (around 15) in 12 monthes for expressive language (what he says). His language comprehension and vocabulary skills are average for a child his age, and all of his language difficulties are consistent with his hearing loss. This is awesome news!!!
 
August 20, 2008
Live interview on Canada AM with Simon Ibell. Click here to watch it.
 
August 19, 2008
Article about Hunter Syndrome (MPS II) in`today’s Globe & Mail.
Simon Ibell passed along a link to an article in today’s Globe & Mail about the Hunter Syndrome (MPS II) issue in Ontario. Click here to read it.
 
August 17, 2008
In the past weeks, our good friend Simon Ibell has been busy! Not only did he start a petition to pressure the Ontario government to fund Elaprase (the Enzyme Replacement Therapy for MPS II), but he also made a video with Steve Nash for the same reason (you’ll notice Trey playing hockey in the video as well as Steve wearing our ‘Got Hope’ shirt)!! To sign the petition, click here, and to watch the video, which is on You Tube, click here. There’s also a Facebook Group which you can join here. And if you’d like to purchase a shirt, let me know!
 
Here’s the press release...
 
NBA Superstar issues an appeal for funding of Hunter Syndrome Therapy

Steve Nash appeals to Ontario Government to fund treatment for rare disease

Toronto (August 12, 2008) - National Basketball Association Superstar Steve Nash has recorded a YouTube and Facebook message urging the Ontario government to fund the only treatment available for suffers from Hunter syndrome, a rare progressive genetic enzyme deficiency disorder.

Hunter syndrome, or MPS II, interferes with the body’s ability to eliminate cellular waste, which damages tissue and organ functions and can lead to severe clinical complications and early death.

Health Canada approved the Hunter syndrome enzyme replacement therapy (ERT) medication, Elaprase, more than a year ago. Alberta and British Columbia are currently funding this life-prolonging treatment, but Ontario continues to refuse coverage. Since there are only six people with Hunter syndrome living in Ontario, the economic impact of treatment funding is minimal.

"The earlier patients receive the treatment, the better chance they have of stopping the progression of Hunter syndrome,” Nash said. “A close childhood friend, Simon Ibell, has seen his health improve significantly since being on enzyme replacement therapy. I hope all Canadians will join me in asking their politicians to fund enzyme replacement therapy for Hunter syndrome in Ontario and across Canada."

|bell, a 30 year-old Toronto resident, was diagnosed with Hunter syndrome at the age of two, long before there was a treatment for the disorder. Until he began receiving enzyme replacement therapy (ERT) as part of a clinical trial five years ago, his quality of life was in severe decline. Treatment with enzyme replacement therapy has reduced Simon’s pain and suffering and improved his quality of life and life expectancy. 

“Even at my age, the treatment has had such a positive impact on my life -- improved breathing, decreased organ size, improved joint flexibility,” Simon said. “Daily tasks are so much easier.”

Currently, Ibell is receiving enzyme replacement therapy because he was part of a clinical trial. His future treatment is not guaranteed. The termination of ERT would result in the return of severe medical complications, including tissue and organ damage.

Another Hunter syndrome patient, Szymon Cajmer, a 13 year-old boy in Windsor, Ontario now profoundly deaf due to Hunter syndrome, has not had access to treatment. His family is pleading with the Ontario government to approve treatment funding. 

Physical manifestations of Hunter syndrome include thickening of the heart valves, grave difficulty breathing, distinct facial features, enlarged head, abdomen, liver and spleen, and severe hearing loss. In some cases, mental disability may ensue.

Nash encourages the public to join him in petitioning The Honourable David Caplan, Minister of Health of Ontario, and the Ontario Government at
www.ipetitions.com/petition/treat_hunter_syndrome/
to help secure treatment for Simon Ibell and others. View the YouTube video at
www.youtube.com/watch?v=2w3ayN2ezAw


Steve Nash, a professional basketball player from Victoria, B.C., plays for the Phoenix Suns of the National Basketball Association (NBA) and has twice been named the NBA’s Most Valuable Player. Off the court, Nash is heavily involved in charity and humanitarian work and last year was named an Officer of the Order of Canada. In 2006, Time Magazine named Nash one of the 100 most influential people in the world.

Simon Ibell is a director of the Canadian MPS Society. He and Steve Nash have been friends since their high school days in Victoria, B.C. Ibell was born with the very rare, progressive and life-threatening genetic disease called Hunter Syndrome or MPS II. The disease causes devastating physical problems affecting all major organs:  heart, lungs, sometimes central nervous system and liver as well as hearing, sight, breathing and joint movement. Families of children born with this disease endure watching their children’s health deteriorate

Source: Charles Pitts
Oromedia
877 990 9044

Petition:
www.ipetitions.com/petition/treat_hunter_syndrome/

Video interview with Steve Nash available at
www.youtube.com/watch?v=2w3ayN2ezAw
 
July 29, 2008
I have a few exciting updates! First off, Trey’s dose of Elaprase was increased on July 21 from 2 to 3 vials. This is VERY exciting given what I learned from Dr. Valayannopoulos’ research at the Symposium (I briefly outline his conclusions in my June 30 blog). According to Elaprase guidelines, Trey was due for an increased dose once he went above 24kg (he is currently at about 24.5kg), but for various reasons, Trey’s doctor was reluctant to do so. However, the great thing about Dr. Stockler is, she respects and gives a voice to parents! I approached her at the Symposium with Dr. Valannopoulos’ research and a week later his dose was increased! We are thrilled.
 
We also recently received the most amazing donation of $25,000 to the MPS II Fund. I’d like to shout the donor’s name from the rooftop with thanks, but he would prefer to remain anonymous, so that is how he will remain ($25,000 is more than 1/2 a research grant!!).
 
In medical news, Trey had an audiology appointment today and everything went great. Going to appointments where he has to listen and concentrate and pay attention is always stressful, but he did so well today! He paid attention longer than he ever has before and his hearing is as good as it’s ever been! Today is a great day!
 
I learned yesterday that Andrew Lanese, an eleven year old boy who has a severe form of Hunter Syndrome and has been denied Elaprase by the Ontario government, will soon be starting ERT. Andrew’s parents have raised enough money to give Andrew 3 monthes of ERT. On the one hand I am so excited for them that they have found a way to give Andrew the chance to try Elaprase. On the other hand, I cannot believe that I live in a country where parents have to raise the funds to pay for a drug that has been approved by the country and that is accessible to other kids in the country. If we had had to pay for Trey’s treatments for the past year and a half, it would have cost over 1/2 a million dollars. What parents will do for their children. Wow. Way to go Lanese’s!!
 
There are a number of children in Ontario and the rest of Canada whose lives depend on starting Elaprase now and there is something you can do to help. You can send a letter to Ontario’s Minister of Health. With every letter that is sent in, with every story that is in the media, with every person who makes a phone call, the pressure will build until the government has to respond. If you are willing to make the time, go the the Canadian MPS Society website: www.mpssociety.ca, click on ‘Get Involved’ and click on ‘Advocacy.’ A letter is waiting there for you. All you have to do is send it. You sending a letter is a random act of kindness. And I think we need more random acts of kindness in our world. We parents may not ever know that you sent a letter and may not be able to thank you for it, but please know we appreciate everything you do to help us and our country towards an Orphan Drug Policy. You’re doing it for our kids. And that means more than anything to us. Plus, if feels good.
 
July 9, 2008
I just found out about a petition to pressure the Ontario government into providing ERT to Szymon Cajmer, a boy affected by MPS II. Currently the Ontario drug plan refuses to cover the cost of a Elaprase, the Enzyme Replacement Therapy for Hunter Syndrome, which, as research and many many parents can now attest to, could not only dramatically increase the quality of life for Szymon but also save his life. This treatment is funded here in British Columbia (thank you so very much to the wonderful people in our government who approved this treatment for Trey. He is doing amazingly well on Elaprase and I feel sick thinking about what this family is going through, day by day watching their son progress, knowing that treatment is available) and Alberta. Medicare should cover everyone regardless of the illness or location. To sign the petition, click here, and for more info on Szymon, click on the link: http://www.youtube.com/watch?v=odUrHuIRD2s.
 
June 30, 2008
The International MPS Symposium finished yesterday after four days of fascinating presentations, fun and emotion. The research was unbelievable. There were presentations and updates in research on Genistein, Intrathecal trials in MPS I & II, CNS and the brain, findings in Enzyme Replacement Therapy, gene therapy in MPS III,  and much much more. All the major players (MPS Societies, drug companies, support workers) and doctors in the MPS world were there and we had a chance to pick their brains. And the families were... amazing. People I have known for 2 years online but never met, I got to hug and hold and laugh and cry with. I have a lot to share regarding research updates and family connections, but I will do all  this in my blog.
 
In the past weeks, we have received interpretations from Trey’s cardiology results. Trey’s valves have thickened a small amount. However, the good news is, the thickening is so insignificant that it does not affect the function of his valves or heart. In my lay person understanding of this issue, the problem with build up on and thickening of the valves is that once the values are thick enough, they do not close properly and therefore start letting blood leak back into the other chambers of the heart which taxes the heart and makes it work less effectively and grow in size.
 
Trey has also recently seen his physio (PT) and occupational therapists (OT). Overall, Trey’s joints are doing well and are maintaining their range, but his PT and OT are concerned about his right wrist and left elbow. We have an appointment in mid August to have a splint made for his right wrist.
 
We have a new grant funding page! To read it, click here. In the past year, the MPS II Research Fund has given $44,000 to research. We want you to know that your donation is going into research, nothing else, and we also want to share the research with you because it is very interesting and exciting! If you have any questions or would like more details, please don’t hesitate to call or email.
 
I also want to tell you about something called the ‘Hunter Disease eClinic.’ A clinical fellow from the Hospital for Sick Children in Toronto presented on it at the Symposium and it is unreal. It is a training tool for for doctors and practitioners who work with kids affected by Hunter’s. Because Hunter Syndrome is so rare, many doctors and other care providers are uneducated in the nuances of this difference. This makes it difficult when we are sent to doctors who are experts in their field, but have no idea about Hunter’s. Often parents know more about how to treat issues than doctors. And since the storage of GAGs in the MPS’s affect the body so differently than other diseases, this resource is invaluable. I could go on about this. I was blown away. It is definitely worth checking out. Go to: www.sickkids.ca/lysosomalresearchgroup. This doctor is now working on making eClinics for all the other forms of MPS.
 
May 29, 2008
In the past two weeks, Trey has had a number of appointments in addition to his weekly Enzyme Replacement Therapy infusions: neurodevelopment tests in North Carolina, ENT, opthamology, rheumatology, nutritionist, homeopath, osteopath, and as well, we received his cardiology results from back in January.
 
With a three hour time difference, over 14 hours of travel and unhealthy food on the Saturday before Monday’s tests, and 6 hours of development tests in one day with only an hour break in the middle (Trey & Ry were at the Centre for Development & Learning from 11am-7:00pm), Trey did very well with the neurodevelopmental testing at UNC. Without getting into too many details, although Trey’s test scores were similar to 6 months ago (ie. his IQ has remained the same), Dr. Escolar still maintains that she is not sure about Trey’s central nervous system. Although this is not the exact news we were looking for, Trey is doing so well and he is starting to talk so much, we’re feeling good. Until the Intrathecal trial starts, however, we will continue to have his development tested regularly (every six or so months).
 
Besides having some wax in one ear, which Trey’s ENT doctor removed, Trey’s ears are doing well and his tubes are in (he had Goode/permanent tubes put in on October 1, 2007). His hearing is also stable, as per his audiology appointment a couple months ago.
 
At his opthamology appointment Tuesday, the doctor did a new eye exam because Trey is older now and able to do more involved tests. His eyes are fine and she wants to see him again in one year (we expected everything to be fine as eye problems are rare with Hunter’s).
 
Trey’s joints are also stable. Within the first 9 months of Trey beginning ERT, Trey’s joints gained some range. Since then, his joints have maintained that new range. Trey’s PT, Iris, who Trey has been seeing every 6 weeks for the past 2 years, has noticed that his joints fluctuate, but since overall everything remains the same and his range is not changing, the rheumatologist thinks it is unnecessary  for Trey to see the PT so often.
 
About a month or so ago, we did a food diary for Trey and gave it to the Biochemical Disease nutritionist at BC Children’s Hospital. Given what he eats (all organic home made food, nothing processed, no additives or preservatives, low  sugar and when there is sugar it is natural sugar in the form of maple syrup or honey etc.), his height and how much he weighs (he is above the 97th %ile for both height and weight), she believes his nutrition is good. The only change she recommends at this point is giving him more calcium and vitamin D, as they are low in his diet and his bloodwork confirms this.
 
Trey’s alternative therapies are also going well. His osteopath is amazed by the changes she has seen in Trey since he began ERT. Before he began ERT, she described the fluid in his body as stuffy and slow moving. She says it feels and looks as though he’s grown into his body. When we first started seeing her, Trey saw her weekly. On Wednesday she said she doesn’t need to see him for 6 monthes!! Trey’s homeopath also thinks Trey is doing amazingly well.
 
And last, but not least for appointments, is cardiology. I’m still confused by the results and am awaiting clarification, but I will try to give you a bit of info. My understanding at this point is that Trey’s valves do have some thickening. What I do not understand is whether or not this thickening has changed from last year. Dr. Stockler is going to have one cardiologist interpret all of Trey’s test results since 2006 and get back to me. Dr. Escolar read the results and said this is typical for Hunter’s.
 
In other news, on Wednesday, May 7, North Vancouver MP Don Bell's Private Member's Motion-426 was passed in the House of Commons. Click here to read the motion and click here to read the remarks made by Mr. Bell during his second hour of debate on the Motion. Trey was mentioned during this second hour. Lisa Priest wrote an article for the May 9 issue of the Globe & Mail titled: “MPs back orphan drug proposal,” and on May 14, the North Shore News published a front page article about the Private Member’s Bill being passed, in which Trey is mentioned: http://www.canada.com/northshorenews/news/story.html?id=d96c5523-f855-495e-9c6b-e4ba27e01bb3
 
Cinco de Mayo, 2008
Tacos for Trey was an awesome success. It was so awesome and successful and there is so much to say and so many people to thank that I will do it all in my blog. What I will say here is thank you so much for your support. You really have no idea how much it means to us. You are helping us save Trey’s life and there’s not a lot that means more to us than that. One more thing I want to mention here is that we beat our last’s years on the day total. This year we raised $18,000 on Saturday and I have no doubt (based on the donations we received in the weeks leading up to T4T and in the 2 days since T4T) that we will also beat last year’s grand total for the event of $30,000.
 
 
 
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