June 30, 2008 mcfadyena

So so Many Emotions at the Symposium


A picture from our "Tacos for Trey" fundraiser in May 2008

I’m still reeling from the International MPS Symposium that was held this past weekend in my home town of Vancouver, BC. The Symposium began with a bang. The first person I met as I walked into the Sheraton Wall Center, the location of the 10th International Symposium, was a mum from Sweden and her 13 year old son, who has an attenuated form of Hunter Syndrome. They were registering for the Symposium, and the boy was receiving his infusion as we spoke. The needle was in his chest and the enzyme was on his back. They’d brought the drug from Sweden. For those of you in my world, you know how exciting this is. Always having loved traveling, I had dreamed about doing this with my kids. Once Trey was diagnosed and began weekly ERT, these dreams were put on a back burner, as we were no longer able to travel for more than 10 days at a time. Although Ontario’s denial of Elaprase and the situation of rare drugs for rare diseases is preventing this from becoming our reality at the moment, I have hope. What a great way to start the conference.

The researchers, scientists and doctors were amazing. I am really grateful for how approachable and open they were to speaking with parents. All the presentations I saw were unbelievable and exciting, but here I will tell you what excited me about what I heard with regards to Hunter Syndrome. Now that ERT for Hunter Syndrome has been on the market for a while, doctors are further investigating its effects. Dr. Vassili Valayannopoulos presented research on 11 boys affected by Hunter Syndrome between the ages of 2 monthes and 12.5 years who are receiving ERT. He presented data that the GAGs (what is stored in the cells as a result of the deficient enzyme) of the under 5 age group do not normalize with the dose used in the clinical trials (which was done only on boys and men over 5), while the GAGs of the boys and men who are over 5, do. Based on this, he is recommending that children under 5 receive a higher dose of Elaprase.
Also exciting is the research of Dr. Emil Kakkis who is giving ERT to MPS I dogs. He has found that an immune response or producing antibodies, which is common in the MPS’s with ERT, reduces the effectiveness of ERT. He has also found that if he can get rid of the antibodies and double the dose, the drug actually gets into and helps the heart valves and brain. Given what we just found out about Trey’s valves and also the fact that Trey’s body does not produce antibodies, this is very exciting.
I also heard presentations about how the Intrathecal (IT) trials are going in MPS I and got updates on what’s going on with the upcoming IT trials in MPS II. Much focus at this conference seemed to be on newborn screening, which is awesome now that there’s treatment, and the CNS and blood brain barrier.
Perhaps the most emotional part of the Symposium was the parents. I saw a family there whose 2 sons were recently diagnosed with Sanfilipo. They looked numb, blank, empty. Other parents were so peaceful, seeming to have accepted and embraced their child’s disease and what it means. And still other parents, like me, whose kids are young, are in fight mode. Fundraising, approaching the media, talking to doctors around the world- doing everything and anything they can to make sure people know what their child’s disease is, to make sure they have treatment, and to make sure we find a cure while our kids are still young enough to benefit from it.
There were many many tears throughout the four days. For the most part, I held it together until after the conference, at which point I collapsed. It was such a rush or emotional high being at the symposium. In just 2 years since my last conference, research has gone so far. There are many upcoming treatments and so many researchers working on this. And meeting new people was so great. I have become as close as is possible with moms and women over the internet and phone, and I finally had a chance to meet them in person. It was too short, that time spent with my friends. The feeling of being around people who truly understand what it is you’re going through is indescribable. They just know. I don’t have to say a word. They have cried and their dreams have been altered. They’ve found new dreams. They’ve been devastated. They’ve fought their way back up. It truly is amazing, how much people can endure. I met parents who started their own foundations and have raised from thousands to millions of dollars for research.
At the Gala dinner on Saturday night I looked around and saw so many emotions and feelings. Sadness, grief, anger, hope, celebration, anxiety, fear, ecstasy, love… I just figured out why I am so exhausted: MPS, for me, is full of extreme emotion. It is by no means all negative, but there is nothing neutral about it. Not for one second can I be mild or mellow or gentle or even happy or sad. It is intense because our children have progressive diseases. And we want cures now. You know what is cool about that? We aren’t allowed for a second to sit back and forget that this is our only life. I know people all around me who get caught up in the daily grind. They forget that their lives too, using the medical terminology that Trey is blasted with every day, are progressive diseases. No one here is getting out alive. Even people who were sick but got better forget because they can. This happens to me as well, but the difference is, I get reminders. I am reminded regularly to forget the dishes. Who cares if the windows aren’t clean. If we get our clean clothes out of laundry baskets instead of droors, whatever.
There are so many people who made this experience incredible. Kirsten Harkins, July Fowler-Byrne and Lorne Clarke put on an awesome event. Lori Bradley from Shire is wonderful and so kind and helpful. I met Paul McCabe for the first time who is just as wonderful. I’m thrilled our Canadian Shire reps are so awesome. Trey’s doctor, Sylvia Stockler, is brilliant (the speaker who introduced her presentation could have had her own presentation about everything that Dr. Stockler has done and accomplished) and so great. Ryan warned her she’d be getting calls and emails this week about everything I learned and she laughed. I am grateful to have a doctor who is open to and respectful of parents’ questions. I am so grateful Trey’s entire team of doctors, drugs company representatives, and health care practitioners are so awesome. I know this is often not the case, and I can be so much more relaxed knowing Trey is in good hands. The people involved in Trey’s care like him and want to help him. They put extra hours in for him. Thank you!!
Donna Kay, I wish I could have spent more time with you. Ellen and Erica, I am so glad you could stay with us. It was fun, and Ellen, I can’t wait until you do it again with your whole family. To Dr. Muenzer and all the other researchers and doctors, thank you for putting your time and work into MPS. It touches my heart and means the world. To my mom and her sisters, Nancy and Lynda, her friends Dorothy, Sheila and Val, to my sister, Michelle, and my dad and Lisa, thank you for volunteering with the kids. It was long and hot and chaotic, but your support keeps me strong.
To all the other volunteers who spent time with my and our kids, thank you. The kids had a blast and you were great! Lisa from Quebec, I am glad to have a fiesty, friendly MPS II mama friend in Canada. To my forum family, it was too short. I would have loved to get to know you better. To the Ibell’s, you are family. We love you. Words cannot describe what you have done for us. To Trey, Ave, and Sadie, thank you for letting me ignore you all weekend. You did great. And to Ryan, I can’t even write this without tearing up. Thank you for taking care of everything all weekend while I was at the symposium. You are the only person who knows me and us. You are my heart, my soul and my rock. I love you. To everyone involved with the Symposium: thank you. I will not forget it.


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