MPSIIFund News

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 am 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.

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!!!!!!

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!!!

Live interview on Canada AM with Simon Ibell. Click here to watch it.

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 watch the video, which is on You Tube, click here: http://www.youtube.com/watch?v=2w3ayN2ezAw. There’s also a Facebook Group which you can join. 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.
View the YouTube video at: http://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
Video interview with Steve Nash available at: http://www.youtube.com/watch?v=2w3ayN2ezAw

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: http://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.

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 another 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.
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: http://www.sickkids.ca/research/lysosomalresearchgroup/
This doctor is now working on making eClinics for all the other forms of MPS.

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.

Motion Passed in the House of Commons

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. Trey was mentioned by Mr. Bell during his second hour of debate on the Motion. Click here to read his official Hansard comments. One week later, an article appeared on the front page of the North Shore News about the passing of the bill; click here to read the article.