Sunday, February 15, 2015

WORLD LDN Meeting, FL., Positive steps in MPS I world!

This WORLD Lysosomal Mtng was actually the best one i've attended yet (i've been to 2 others) and finally seems like there is alot of excitement and buzz in the air regarding new/upcoming ttreatments for MPS I!
Thurs I had lunch with per the Foundation I work for regarding a grant they fund with AMICUS Therapeutics (John Crowley's Foundation, he was not at this lunch but did talk to him a couple times during the wk and he was at a similar lunch last yr at WORLD.
At this same lunch was a doctor who is now at Boston Children's Hospital/Harvard and who sees 8 or 9 other MPS I pts (in our world thats alot!) and of these has several on Elmiron the anti-inflammatory drug I have been trying to convince my Geneticist to look in to more (but he refuses to).
In any case this dr and I where talking and I was asking about the Elmiron in relation to the Coumadin (blood thinner) I take and he felt one has no impact on the other. After talking some more I mentioned I planned to be in Boston in April and would I be able to see him, would he consider prescribing this drug for me? Long and short of it is he asked me to email him my info and his NP is working out details now, she is working to set it for around the time i'd be out there.
It is always so nice talking to the drs who really get the genetics/metabolic aspect of MPS and who unlike my Geneticist are willing to consider thinking outside the box! I love how open to helping drs are in the MPS Community! I think in all honesty every dr I talked to said to me "If you ever have other questions please don't hesitate to email me"! So cool! =) In addition to drs I sought out or was introduced to there was a Research Student there who had gotten ahold of me on fb and who wanted to me. We sat down Thurs afternoon, his group is working on a form of Gene Therapy and he was just interested in general in my thoughts on it and my thoughts on various MPS things. He likes most Research Students or the drs was interesting to talk to and I think he was able to get useful info from what I told him.
On a related/un-related note this same dr (Dr.Bodemir) is likely to be one of the study site drs for the PTC drug trials and he feels this may start as early as summer. He feels the trial will be 8-12wks (or maybe it was 6-8wk) in lenght (so relatively short actually) and is a drug that those in the MPS community feel will cross the BBB and get in to the cardiac areas which ERT does neither. Ataluran is taken as a powder (mixed in liquid) 3x's a day.
Right now this drug is in Phase III trials for DMD and CF and in the UK is approved for use for DMD. The MPS I trial was originally slated to occur solely, initially in the UK but the new word at this mtng was due to not enough patients for enrollemt there (UK) it will now be a cross-continent study taking place both in the US and in the UK.
I do have 1 non-sense mutation and also participated in the original PTC skin biopsy studies at PENN (CHOP) a few yrs ago so am hoping those 2 things along w if I am an established pt of Dr.Bodimer's will help me get in to the PTC (Ataluran) study once it where to start!?!? Time will tell but I am praying! going out to see

On an different note, it turns out although our Hotel was offite (Ritz Carlton, about 15mins drive) that the people I work for (their Foundation) in addition to paying for a hotel room for myself and for themselves offsite paid for a rm each of the days we where at the WORLD Mtng (held at the Hyatt) so we'd have a place to hang out/nap or do whatever we wanted in between sessions we where attending and other mtngs. Weds and Thurs. there where several long breaks between relevant talks so this was reallly, really nice to be able to go up to the room if we wanted!
A fairly newly diagnosed MPS I Adult friend of mine (she lives in Orlando) was at the mtng so she and I hung out some, attended some of the sessions together and Weds night went offsite and had dinner together. Awesomely enough the people I work for arranged a car service for anything I wanted to do and going to/from the airport or hotel to hotel when they and I where not together.

I defintely did not feel great in the mornings and night but could move at my own pace and I know myself well enough to know how early to get up or how to sleep to semi-help and for that matter know some of the things besides Zofran that help calm my stomach. I'd defintiely have loved to feel tip top shape (alot better) and thus have had more energy BUT I still had a good time! The weather was NICE! Humorously people kept saying "it's cold here today" (breezy but not cold!) which that weather was a peach compared to what i'd left and especially what I came home!
This week is a little busy with several appts., Lent starts Weds and we also have a SS Teacher's mtng Thurs night. I believe it is Thurs I see Dr.Bragg so I am praying we could sort something out w these headaches/sciatic symptoms (I am 100% sure it is related to the shunt stuff now) and associated symptoms.
On an un-related and very quick note I ran in to an old friend of mine from Genzyme, he was our MPS I Marketing Director when there still was an MPS I dedicated team and once Genzyme was bought out he along w the majority of that (marketing) team was quickly let go. Although we'd emailed occassionally this was the first time i'd seen him in yrs! He actually same me as I was walking out of a session and hurried to catch up to me. Super neat to see him and now we have each others info again. The MPS I Team really hasnt been the same since the Genzyme buyout/merger, not much if anything really gets done these days mostly I imagine due to funds being cut.
In any case i'll update soon, perhaps later in the week,
Thanks for stopping by,

No comments:

Post a Comment