Rare Disease Day - a year ago.. Now vs then

                   

  
I am not a worrier all that much or the things I do worry about are things that in the grand scheme don't matter that much but 1 thing I do think about often enough and worry about some is (especially when it's something seeming new or uncertain) will my drs. think I'm making something up? Will they (do they?) believe me?
I can't really say why that's something I think about but I do and I guess maybe it comes from all the days when no one knew and from time to time I did get a dr. who in as many words questioned what I said and/or felt.

I am wide awake (but certainly tired!) at 5 in the morning, this Rare Disease Day, many things on my mind and some iffy/odd/weird symptoms occurring (very) intermittently over night and it ALWAYS makes me cringe! I'll wait to say anything, see if symptoms con't or not but to this day I STILL hate calling drs offices, trying to explain something (I will be 1st to say I often struggle  trying to explain symptoms or how I am feeling or if something different what it is exactly. Hopefully in this case the symptoms where just a passing thing!

It is RARE Disease Day (capitalized b/c come on it's RARE DISEASE DAY!) 12 yrs ago this day didn't exist so it's a pretty neat day to me, even if all i'll be doing is driving my sleepy self to infusion, working on paperwork and phone calls and 6ish hours later driving myself home (to hopefully crawl in my pj's and go to sleep I hope!) On this Rare Disease Day I am grateful to have this infusion and even if it's an (basically) entire day 1 day of every wk, week in and week out I am GRATEFUL I have a treatment and to that better treatments are being studied and in studies!
None the less, if you are healthy be grateful. If you know someone with a rare disease, wear your jeans (for genes, the faulty errors for those of us with genetic issues in my case the error falling to a single gene (4p16.3) which was something both my Parents happen to be carriers of)! And if you are like myself walking around with a rare genetic disease well then celebrate this day in some form or another as we are alive and though some or many days may be difficult we've made it so far!

Erica

ps a year ago earlier this week., I had heard from Dr.Bragg that she'd accepted the position in AZ at PCH. I can still remember how I felt, how many times my Providers said to me after that (and still say from time to time) they didn't know how to replace her and "there will never be another Neurosurgeon like her". Doesn't mean other drs. aren't good just that she was mighty special for her field!
Reading the various things I wrote that day and the days after was a little heart wrenching (I was so scared, undertain, afraid I think) but I also wrote that I couldn't wait for it to be a year from then honestly for the simple reason that things would be better settled, I'd know who my Neurosurgeon was going to be and almost above all I'd know or have a better idea of what things would be like. I am glad it in fact is a year now! I miss her terribly but she's thankfully has in fact kept in touch.
I'm working w/her former Partner now and though that's not always been the smoothest (I guess she just was a good listener, she didn't try to pretend she understood it all but she learned). - Things will get better with the Neurosurgeon I see now, he's told Dr.Bragg and I he's glad her and I keep in touch as she helps both of us. Above all I get it, he's just a different personality type than she was, but if he tries I can keep on trying to.
 Just forgive me when I get frustrated and when I feel like I'm banging my head on a wall. It's simply b/c I want to sort things out and most of all, above all I just want to feel better (head is pretty good, the leak makes a huge difference, it's the low to mid back radiating pain and the deep-again radiating pain down my R side and at times now when on my feet my L side as well. God has a plan, right?

Another year from now, God willing who knows what will all have occurred, what i'll be up to and what better things may in fact be an option or closer. God willing!
Thanks for stopping by,

Erica
ps It may be to late but wear your jeans or wear your blue!

Cardiology update, Neurosurgery, WORLD Mtng

Cardiology -
Due to some on/off (but very intermittent and very short lived thankfully) lightheaded/dizzy symptoms that started only in the past few wks or so (though before we restarted the Ivabradine)
Dr.Earing, my Cardiologist is concerned could our having restarted the Ivabradine post this 2nd Sinus Node ablation back in Dec. be causing intermittent episodes with the heart and abnormal pauses.  This concern is because of short episode(s) (ie a short run heart of heart block) I guess they saw on a recent Heart monitor (Zio patch) episode(s) occurring and should I be on this now?
We'll decide I guess based off the Zio patchc(24-48hr continuous EKG, records heart rhythm though 1 done since then was clear.  On the other hand I restarted the Ivabradine before these symptoms started and to heart rate while not drastically slower seems like it's pleasantly different.  Maybe that's a mind game on my part, who knows but even while the lightheaded/dizzy episodes which occur for a few mins. at a time, very intermittently are occuring the skipped or extra beats seem like they are improved. Who knows!

Dr.Kovach (my Heart Rhythm dr.) responded to an email I sent him updating on this all and he thought perhaps if symptoms kept on he'd want a 30day Heart monitor to see about any episodes over a longer period. I don't f/up with him until I believe May so we'll watch to see how things play out.

The Echo done at this last episode  showed a very slight improvement in the Mitral valve gradient which not significant but it puts the new valve back in the mild range vs. being moderate stenosis so if that where to stick (stay improved) that wouldn't be a bad thing!

Peds Neurosurgery F/up - few wks ago -
I seen Dr.Iskandar a few wks ago  which wasn't particularly useful (not the right word but can't think of what word I'm looking for)  and honestly the Medical Assistant had called a few days prior to confirm the Appt and say something about I'd need to schedule an MRI after the Appt (I forgot to ask Dr.Iskandar about that but assume he changed his mind as he didn't mention anything re doing imaging before next fup). This MA said he was planning for a 3mo f/up after the Appt. LOL, To that I just thought to myself  'so why am I going to the Appt if he has a plan in mind?' Needless in fact not much came off the Appt., I'm tired of saying over and over what an impact this is having on day to day life so was pretty quiet needless at the Appt though I made sure to emphasize to him this insn't normal, this isn't even entirely what Dr.Bragg and I dealt with after her and I 1st surgery together (symptom mirror then some but not all that much anymore. Hard to explain the difference).
Something I did realize just the other day, though of course several days after the Appt. is that a few years back Dr.Bragg had moved the Lumbar Peritoneal Shunt to drain from the Thoracic (mid) spine versus where it was in the lumbar spine and at that time I had virtually the same symptoms I have no including radiating leg pain, hip and significant low back pain and started in just 1 leg but spread to encompassing both legs after some time though 1 leg at that time always remained worse than the other to as it is now.
The only way I realized this was an old blog post, written about this same issue a few yrs (from this very blog =D ) was it showed up in my facebook timehop (a daily thing that shows up with memories from that same day the past 5-6 years). Needless I asked Dr.Bragg about this and she to felt I should mention it to Dr.Iskandar as he from what I remember placed the LP Shunt so it starts in my low back but the tip ends up in my mid (thoracic) spine now to.

Gawd I hope he will listen!!!!! Hi Secretary when I had called to make the f/up Appt last wk made an Appt for 1mo from now not the 3mo Dr.Iskandar had recommended and she just said if by some chance things are improved (that would be AWESOME!) then I should just call her back and she'd reschedule. Hey, can we can hope but I appreciate she also is insightful!

WORLD Meeting - Injectable anti-inflammatory study.
Otherwise I was in San Diego last wk for the yearly WORLD Mtng., which is 1 of my favorites to attend and was good. A few studies either started or will be started including one looking at a arthritis (and several other indications) injectable drug which is being studied by an Endocrine dr. formerly of UofMn and now at Harbor UCLA in CA. She's helped my Endocrine dr. and I a few times and a genuinely nice doc.
Last summer or so they did a small study with this drug of which I had been asked if I would want to participate but there was a lot going on here with heart and shunt stuff so I chose not to. Things now are a tad smoother so I have already talked with this dr. more, sent her several test results they'll need when looking at if Pts (myself) qualify and b/c they just got a new round of funding (yay to the Foundation I work for!) she expects they may be up and starting again in May. She'll keep me updated which I appreciate (b/c I know these docs and doctors in general have a lot else to do besides just update interested Pts like myself!
This would require initial travel to CA at study start and then any addt;l travel if there is any I believe is limited to the end. I may not be remembering that completely correct but I know the weeks during after initial enrollment they mail the drug to Pts.

Otherwise I did a photoshoot with Levi of 'Living in the Light of Rare' Foundation, whom photograps Pts, tells their story and has displays of these pics and stories at various Pharma/Biotech mtngs. These are used to raise awareness but also to give Pts a voice. The photoshoot took us to the Bay area of San Diego (about 20-30 mins from our hotel), and various area around there incuding some cliffs (maybe not the right way to describe), Navy ship area and to lighthouse on the Bay. Was fun, exhausting and so well cool! Some of the pics attached either I or Levi took with my phone but he'll send me the ones he took when he has them set (edited maybe or downloaded, not sure). Either way was really rewarding! We had dinner afterwards and he humored me by going to a more basic food place (Cheesecake factory) vs a (I think it was but can't remember for sure) Mexican restaurant (I have nothing against this particular one just didn't seem to have any basic items.
The night before that I'd had dinner with the Foundation I work for and with the CEO and Study Coord. for another study that is on-going using the Aldurazyme (drug I receive every wk) reformulated to cross the BBB. Was informative and interesting as well as the 2 people where extremely down to earth to talk to!

Will keep things updated here on any given 1 of the above on-going issues or study,
Thanks for stopping by,

Erica