Tuesday, March 6, 2018

Rare Disease Day at NIH - Gene Editing panel speech, RfR Team (Think big in the hard)

                              NIH, Rare Disease Day, Gene Editing   
I have to say the Rare Disease Day meeting at the NIH last wk is one of the coolest meetings I've been to (and I would say I've attended my fair share of mtngs now since being diagnosed)! It was honestly amazing meeting the NIH Director (Francis Collins, MD) in person and so many others there who truly seem to care about our rare disease world and what they do! I guess I might be semi easily awed but this day was like nothing other I can compare to - just inspiring!                                                                              
I got in to D.C Weds (flew in to Ronald Regan Airport vs the bigger Intrnt'l (Dulles) Airport which was a lot like flying in and out of Madison or Milw (pretty small for D.C I thought but I know the bigger international - Dulles airport is much larger).
Weds night I met up with the 3 others on my Gene editing panel (Dr.Whitley, Genetics Dr/Researcher from UofMn, Sandy Macrae, CEO of Sangamo (doing the gene editing trials/studies) and Scott McIvor, Researcher at UofMn.                                                                                 
This mtng was a really down to earth but also very interesting dinner - it's always nice when your with people who clearly have much more education than I do BUT who are so personable anyways and overall was great conversations.  Fairly lightheaded even amongst the serious stuff!
Thurs we all met in the hotel lobby and took a car to the NIH (whoa security!)  which after a fair period of time (it's extensive!) we then got on to campus and to the NIH-RAC bldng where our mtng and panel where being held. SO AMAZING! I can't remember who but someone speaking made the comment they felt like they where walking in the steps of Giants in research and I couldn't have agreed more.             
Both speaking as a Patient following in the steps of so many who've come before me and advocated for us Adults as well as speaking from just a overall view - to have seen all the pictures and history in the NIH building we where in was incredibly inspiring!              
Once I get the pictures from the pictures from the mtng., that the NIH Photographer took i'll share a few of those but for now I've shared pictures I took and that Christeen, the Sangamo Patient Advocacy Director took for me on my phone (she's awesome!). The pictures I and Christeen took are spread throughout this post.  
As far as my actual (Gene Editing) panel I think this went really well. It had been decided on our panel call a few wks ago that I would lead off our panel followed by Dr.Whitley, Dr.McIvor and then Sandy Macrae (CEO at Sangamo) which in total was about 40mins I believe between all of us. This followed up with several questions from those in attendance,  one of which Sandy initially answered and then directed to me (how do Patients and Advocates get involved or get awareness I believe was the question).
On a really cool note there is apparently a lot of people who where tweeting about the mtng., + some friends sent me various tweets they found about my specific talk.
 I in no way mean to sound self involved but that really is kind of cool to have made such a impact both the NIH, NORD and people attending where tweeting about my speech! I feel really honored to have been asked to do this and to have had this experience!!!
Honestly experiences like this sometimes make up for some of the really crappy days and sometimes really hard situations I struggle with at times in day to day life!
   NIH RDD Day Schedule     
More pics from NIH-RDD Day + 1 from Infusion-Bday
Boston Marathon - Running 4 Rare
 I've made the decision to go to the Boston Marathon this yr., which I am really excited for!
 Cheri, my runner this year and I have really connected and seemed to hit it off well (my runner from 2 yrs ago and I where initially going to pair up again this yr but she ended up not being able to go to the marathon in Boston due to her husbands schedule so we've made the decision her and I will pair up again next yr). My runner I did end up getting paired with, Cheri has been really fun to get to know as well! She works at the company that markets the drug I infuse every wk and we've ended up to have a fair bit in common.
I am really excited for that wknd and works out I am able to see my Genetics dr., before I fly home that Mon (I fly in Sun, our Team dinner is Sat night which I am going to help set up for; the marathon is Mon., I see my Genetics dr Tues and I fly home Weds).
Hopefully will be nice weather this yr and should be fun! Is always good to see those on the Team I know from years past!
Otherwise a few other things going on but will update those next time. Mostly heart stuff (Team doing a new heart monitor for 5 days to 2wks later this wk) and the shunt stuff is well it just is b/c without a Neurosurgeon willing to help it goes nowhere. I still almost 2yrs later cannot believe I'm back in this (basically) hopeless crap situation b/c I don't have a dr again willing to help. I always feared this would happen and I do really try to trust God has a plan (I know he does) but is so hard sometimes.
Thanks for stopping by - I am glad to have opportunities like the NIH mtng and having had the opportunity to talk there as it sometimes helps the crappy times I feel really frustrated!
My 5min speech begins at approx. 1hr 4mins and ends 1min 11 (oops guess I went over the 5min goal! In practicing I had been under this time). - On a (not very funny at the time!!!) note my heart rate as I was talking was skipping so bad, which it has been doing for the past week and was doing that morning something fierce. A minute or so in this slowed or calmed a little and I think I got a little more comfortable but man I was a little nerve wracked at 1st! Still the coolest speech I think I have ever been able to give and honestly I've done a few that where really awesome experiences!
As I was talking I kept losing where I was,  when I speak I rarely do so word-for-word from a written copy but by b/c this was a short speech I needed to write it out. This in turn made the speech harder! Ah well it still went okay I think. =)
(see 4min mark for funny remark about why Zebra's are used for rare disease and why we use the saying "When you hear hoofbeats sometimes think Zebra's not horses"!) -  
 Chris Austin
I am reminded in all the hard times to keep thinking big, today may be hard but tomorrow can be better!
"Alone we are Rare but together we are Strong".
Erica -

Thursday, February 1, 2018

NIH-Rare Disease mtng (3/1), Various updates.

I started this update last wk and then never finished so I will try to do so tonight. Sometimes I want to write but feel a little blah when it comes to putting in to words what's on my mind!

             NIH Mtng at Nat'l Center Translational Medicine
I have been working on my speech quite a bit the past few weeks (for the Rare Disease Day mtng 3/1 which is this coming Thurs!) and specifically for my Gene editing panel.
This is a direct link to the live webcast that will be done Thurs 3/1. I know a few have asked. My panel is slated to start at 9:25am.
I fly in to D.C Weds afternoon, the 4 of us on the panel (myself, Dr.Whitley, Sandy Macrae, Sangamo CEO and Scott M.) have a dinner mtng Weds night at a restaurant in our hotel for Thurs's mtng and then we start bright and early Thurs.
I am actually not clear yet if there is anything i'll need to do after my panel or if I/we will all stay at the NIH-NCATs center or what exarly happens. I fly home Fri then.


Infusion symptoms - changes made
I've been having fevers during infusion for last few months but these have started  occurring outside of infusions at times now. I had talked to my Primary dr to give her a heads up awhile back (I really wasn't to concerned but my Infusion Nurse would mention it every wk and ask if I felt ok). My Primary dr then raised concern for possible Port (access device) or shunt infection. Blood cultures came back negative for the Port and we think they likely will for the shunts to but I am praying so! <--   Thankfully I started this post some wks ago and never heard anything of the cultures so they must have been clear. Not a surprise but still good!

 We all as I think I may have previously wrote about feel it's probably pretty unlikely but at the same time the fevers are coming from some where and continuing for months + started before I started the Humira injections (which can lower ones immune system).

Thankfully after the shunt taps some wks ago and after removing some fluid I felt good for awhile which was (as it ALWAYS IS) - AMAZING! The immediate hours after the shunt taps are always so glorious which really is sad as who seriously wants a needle stuck in your back or head even if it's being tapped in to a access device on the shunts in either space? - I literally had gotten a ton of errands done before then having to drive back to BD and go to Physical Therapy back when these taps where done. After PT (again a few wks ago) - I had ran a couple more small errands and went to my Parents for supper. Was SOOO NICE!!!! I SOOOO freaking wish my Neurosurgeon could understand that difference!
 It's not just subtle either but a HUGE difference when that extra CSF is off! My Physical Therapist said to me (as he does when he can tell I felt good) "I can always tell by your eyes, they are brighter when you don't have a headache!"  which is also a comment Dr.Bragg used to make.
 Aghhh I want to feel that good ALLL the time!!!! How do I convince my Neurosurgeon of this and to look past the fact I do feeling bad really damn well (unfriken fortunately I think sometimes! I don't know how to show him as I can't whine and complain and carry on?!?!?

 I also had saw Audiology a few wks ago to fix my 1 hearing aid. Part of the end just needed to be put back together.
  INR for Cardiology has been nothing short of rather annoying lately running at super high #'s (increased, very high risks for bleeding). --- That atleast was finally in-a safe range now again after a crazy few wks (INRs where running 8.08, 6.96, etc and my normal range is 2.5-3.5).

Will update soon, a lot going on but this is already long enough! =)
Thanks for stopping by,


My speech for next wk (I will lead off our panel and have just 5mins)
                               Gene editing speech/Patient Rep for NIH talk