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
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
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.
