Update long time in the writing.. Trips, Appt, Life?

I started this post about a month ago and have thought numerous times about how I should finish or delete or do something with it but being quite honest I just did not feel like it. Alas many wks later I am here writing now. It's been a busy few wks and yet in other ways at times  somewhat slow (maybe low key is the better way to put it)  - a lot going on but yet not a lot going on.
                                      

When I first started writing this post I was thinking a lot about and considering writing about the past few years and so much change. I couldn't really say why but had been thinking ALOT lately about the various people in my life I really miss - be it family or former Providers, my former Pastor (we do have a new one, he seems very nice, I think maybe it's just in part I miss all I learned from our Sunday School mtngs and that in turn helped me with SS).
 I keep thinking about 2yrs ago at this time and how incredibly hard that uncertainty was and how back then I wondered what a year out and 2 yrs out would be like.. Would I (especially) have a new Nrsgn that was atleast reasonably as good (ie caring) as Dr.Bragg had been? Would Dr.Bragg and I still have kept in touch (we do, I am thankful for her, sometimes when I want to pull out my hair in frustration she keeps me mildly more sane).
I remember wondering after the 3rd Open Heart Surgery (OHS, Mitral Valve) would that finally be the last 1 and would things settle?
                                        Time flies even when it doesn't
It's been 2 yrs this May since Dr.Bragg moved and honestly it hasn't gotten much easier. Now is a lot like it was before I had found her. In a way even I feel like she pulled my Team together, though I can't really say why that is. She was a good dr who cared and I miss her willingness to think outside the box for my not very typical headache/Hydrocephalus issues. She still helps my Neurosurgeon and as I said above I can ask her questions and we've become friends I guess you can say but I would give about anything to have her as my Nrsgn again more than anything else.
                           
It's been 2.5yrs since the 3rd OHS and things are atleast stable from valve standpt. the replaced (mechanical) Mitral valve does have the moderate stenosis (narrowing) which is not what my Team hoped for and heart/heart muscle is working to hard to some extent but overall it's not presented to many problems. Heart rate (or rhythm I should say) has been an issue and especially so the past few weeks with some really weird episodes that where occurring with some frequency but my Heart Team is on top of that, ordered a Heart monitor which showed some different rhythms and changes but overall in the big picture it looked ok. One of those confusing things - story of my life really!
                                    Coumadin / INR - Never ending
Blood thinner levels have been all over the place but that likely has much to do with the headaches and nausea and so keeping that med level stable is like trying to I keeping balls juggled and in the air (I know terrible analogy).
We spend more time to low and like this wk with INR (blood thinner level) was to high - so increased chances for bleeding but that to is manageable. Even today's level at 8.12 or something in that very close range  (can't remember right off hand) I thankfully don't seem to be having any adverse affects, no bruising, no bleeding and if not for the actual lab test I wouldn't have guessed INR was so high. Last time it was in the 8 range I felt lightheaded and other weird things so I am glad atleast that hasn't been an issue this time!
  - Atleast my Primary dr is FANTASTIC about helping with this and has a standing order for the INR (blood thinner) lab test in her system so I can get it checked either in Madison (where my Primary dr., is) or in Milw., where my Heart Team is and both Teams can see the result through the shared 'Care Everywhere' system. I also get the results within and hour or two in the MyChart system at both Providers hospitals.
Today both my Primary drs office and my Cardiology Team called concerned about the level but they communicate with each other and with me so we figure it out and I know what to watch for.

Headaches -> Shunts -> Pressure
I saw my Neuro Endocrine dr., the other week. She's been part of my team way before I started seeing Dr.Bragg (would be 7yrs this May) and knows the changes that occur not only from our time with Dr.Bragg but before that when I was pre-shunt and then 1st shunted at FMLH.
Endocrine also ran new labs (which she does every 3-6mo) to re-check thyroid level which has been an issue in the past but stabilized once we got cortisol (hypothalamus/pituitary gland issues (cortisol levels) stabilized). The thyroid level has been intermittently going awry likely due to the newest heart med I have been on (Amiodarone) so she re-ran those labs to monitor and results thankfully came back fine.
                          Boston Marathon - Running for Rare
In 1.5wks I fly out to Boston for my 6th (?) year on the Running for Rare Team - this year will be my 1st year staying in a hotel while out there for the marathon so I am a bit nervous but I think I have everything sorted and figured out for  getting to the various places I need to. The biggest being of course Monday morning to our marathon Team mtng spot in Wellesley, I am thinking i'll take the train from my hotel in Boston to Wellesley, it looks like from directions 1 of the Team runners gave me i'll have to switch trains once.
 After the race 1 of the NORD-Race Team organizers offered to give me a ride to the Team get together and then back to my hotel afterwards. My hotel also has a shuttle to/from the airport and to my Appt on Tues morning with my Genetics dr. at Boston Children's so overall shouldn't be bad. Just my need to be organized makes me a bit OCD about having all the details written down and mapped out!

Should be fun if not I get a little pent up in the leading up to making sure I have everything arranged, packed and I get to the airport on time (I am flying out of Milwaukee which I haven't done in a couple years - it's not a huge airport but more difficult to get to then is Dane County (Madison)'s airport!

Otherwise this week I cancelled and haven't yet rescheduled the Peds Neurosurgery Appt (just wasn't feeling like dealing with it) and PMR rescheduled botox which was today (I went to the Appt and my Dr. did map out a new approach she'd like to try).
      Aldurazyme (Weekly infusion) Anti-body test
The one lab test my PCP had ordered and came back is my Infusion antibody level had been climbing for a while (not a good thing) but this result came back completely normal! So unusual BUT was happy to hear this! Perhaps the pre-infusion zyrtec along with my infusing over roughly 6hrs now (at FMLH I infused over 5hrs, which is still longer than the typical recommended run time) has helped calm my bodies response down?!? Whatever the case is good news!
                                              Easter

Will try to update sooner next time, perhaps after I get back from Boston and Los Angeles (week 16 Humira study visit).
Thanks for stopping by,

Erica 

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

Team

 

 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!

 

Link to NIH Mtng:  https://videocast.nih.gov/summary.asp?Live=26851&bhcp=1

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 -