Thursday, June 21, 2018

Good but busy, exhausting but fun. Not great but could be worse..

 I started writing this last wk and then well I just didn't know where to go with this update. There's a lot and a little and frankly so much I just don't really know or am unsure of.
I may have written about it in a prior update, I'm not sure but when I saw my Cardiologist a few wks ago he had told me I needed to get a copy of my most recent Neurosurgery clinic note which I did and honestly I am still at a loss over that appt note. I still really don't know how to handle it other than I need to find a new Nrsgn (basically the long and short is my Nrsgn was saying in the note that I he doesn't feel I understand what he is telling me and that I am wanting to have repeated brain/spine surgeries every year. That he's concerned). I in fact do understand well what he tells me and what he feels I just don't agree.
I think it speaks for itself when on the same time he's saying I don't understand what he's telling me he has repeatedly told me he doesn't know much about my underlying (Hurler Scheie Syndrome) disorder nor understand it. Uh might it be he needs to learn about my diagnosis to truly understand my case?
I know several of my Drs have tried sharing information with him as have I. But yes, it's me that doesn't understand (rolling my eyes).
I will just never understand why Drs who aren't willing to take time to learn a Patients case have to blame their ignorance on the patient?

Needless to say I need to find a new Neurosurgeon which stinks, simply b/c it is no small feat to do. - Even my Primary dr and my Cardiologist are saying the same now.
Which to back up a min., can I just say it still baffles me the dang changes to the newest mechanical (heart) valve. I just don't get it.. I don't think about it a lot but I will admit I've wondered some what will happen with that. What does that mean long term? I think I was a little stunned at the appt so I really didn't think to ask many questions.
So anyways re Neurosurgery I did talk to Dr.Bragg, (my former Peds Neurosurgeon, I'm guessing anyone reading this has figured out but she moved to AZ 2 yrs ago although has continued to help me with my care).
In talking to her she still feels the 1 thing I really need (which I've written about here in the past) is the skull bone thinning surgery. - I guess it's not actual cranial vault expansion but if I understand her correctly Plastic Surgery and Neurosurgery take off part of the skull (part of our hard head), literally shave off some of the bone from the skull bone and then they I guess replace it. This in theory gives from what she's told me even just cm's more space for CSF (spinal fluid) to circulate. Given we know (or atleast most of my team knows, I'm rolling my eyes here) that I feel best when I not only have 2 fully working shunts, set at the very bottom but then when I also have spinal fluid leak say after a shunt surgery and CSF leaks out of my spine. That extra fluid leaking she said comes from outside the ventricles (which is the only place shunts can drain from and mine are small to begin with, they almost never enlarge even with shunt failures) and she feels gives my brain the room it needs to feel better b/c it is to tight, due to skull-compliance issues.
So in theory thinning the skull bone even a little would create just a little extra space for CSF to circulate outside my brain and help the shunts work better.
So that all said Dr.Bragg and I where talking back and forth and she is good friends with the plastic surgeon at UW Children's yet and offered to talk to that dr on my behalf to see if that dr would see me and see if she thought she could help.  I need to do something and given my Nrsgn feels "I want shunt surgery every year" (yes, indeed. Darn how did he know (insert rolling eyes and sarcasm here) - who in their right mind wants surgery?!?) and my Team feels we/I need to find someone else I am willing to look at this surgery if Dr.Bragg's colleague thought it would help as a way to possibly help the overall situation. Sounds kind of aweful though (and that's even crazy b/c I've literally had my heart stopped and been on heart/lung machine 3x and in general had almost 70 surgeries!

Otherwise I have c-spine (neck) MRI in a few wks (I was in no hurry to do it and isn't urgent so scheduled it out, the 2nd week of July as Peds Neurosurgery has to re-program both shunts after. Given 1 of the Peds Neurosurg., NPs will re-program the shunts after I am going to ask if they have any suggestions. It can't hurt. IT IS SO FREAKING HARD finding a Neurosurgeon who treats a Congenital (Pediatric) issue but in an Adult! Literally miss Dr.Bragg being here and often marvel at being back exactly where I was before I'd found her.
 I can only hope someday the Neurosurgery world models its care after the Cystic Fibrosis and Adult Congenital Cardiology models of care for Adults-with congenital medical diagnosis! There are ALOT  of us Adults who struggle to find good Neurosurgeons who will learn about our Congenital disorders.

Last week was Vacation Bible School at St.John's. Although I teach 3rd-4th during the Sunday School year I've taught 5th/6th for VBS (which I also really like, I feel like at this age (both 3rd/4th and 5th/6th)  the kids are still pre-adolescent/pre-growing up to much and genuinely fun to be with. Not that I don't like kids after that age, I do but kids definitely change in that 6th-to-7th grade and I guess many seem like they suddenly get more focused on all the things I wouldn't want to worry about/think much about as a teacher.
Perhaps that sounds bad but kids tend to just be more innocent the younger they are.  I had a sub for my class Tues but otherwise taught Mon., Weds and Thurs and then the kids sang in the Thurs night worship service at Church with the weeks theme being 'Victory'.
 I am not sure how to upload video or I'd load of the  various songs the kids sang - all where very good though there where 2, including 1 aptly titled (I believe) 'Victory' where my favorites. The kids got to dance and sway and use their hands so they of course loved these as well.

    Lessons I taught / each grade level had included - Day 1.Crossing the Red Sea -Victory over Egyptians
Day 3. David and Goliath - Victory over fear
Day 4. - Christ death on the cross. - Victory over sin!
This is ALWAYS an exhausting week but also very fun and I love the kids.

Not only was I teaching those 3 days but then Tues I had infusion all day which means getting home semi late and not getting much done. Weds and Thurs night (last wk) I had been invited to meetings Genzyme (Biotech company that markets the enzyme replacement/infusion drug I receive each wk) in Milw. so I drove back and forth to Milw both nights after VBS to attend these. The speaker was Kendra Bjoraker, a former Neuropsych dr., of mine (she used to be at UofMn which is where my Communicating Hydrocephalus was 1st diagnosed).
 The Metabolic Genetics dr who diagnosed this worked with Kendra and she became part of my Team 13 yrs ago through testing they would do and in turn Kendra taught me many exceptionally helpful ways to be more organized (prime one being use a planner, I can remember my 1st Genetics Counselor told me that same tip and each yr when I am buying a new 1 for the year I think of both of them. Its such a relatively simple thing but I now keep a written planner in my purse as well as a calendar app on my phone and a memo widget app on my phone where I write down notes, reminders, things I need to do and honestly it makes   a HUGE difference for my really pretty bad short term memory!

Every time I park at a hospital (especially if it's 1 I don't often use) or a new place I think of Kendra as there again a simple thing but due to her having to help me find my car (lol) at UofMn many years ago she taught me another simple way to remember where I've parked. Things that probably honestly are common sense or just most people might think of but some of those things in the beginning I never even thought about till it would be to late and suddenly I'd have no idea where my car was or where I'd left my keys or some other random thing.

Uof Mn Neuropsych testing / Gene studies testing
In fact earlier today I was emailing with the Neuropsych coord. at UofMn as she had asked if I'd come up there sometime this summer and take part in a study I'd done for a few years they are doing tracking the memory changes and other brain-cognitive functions in us MPS I Pts. - Being completely honest it's totally boring, EXTREMELY Tedious mind numbing testing but if down the road it helps drs understand how to help us Pts then I guess its worth it. It's only 1/2 a day, right? A few dead brain cells   for the greater good. Yah, I know, lol how I convince myself of this stuff i'll never know! The testing may also apply to either of the gene editing (Sangamo) or Gene therapy (RegenX-Bio) therapy studies that are going on or soon to start so I'd need to do this anyways if I chose to do one of these studies.
I am going to do the testing to see if I'd qualify for Sangamo's when I am in Mn next month just so  I'd know (due to a very specific antibody a lot of MPS I Pts have tested ineligible so far). Whether I'd actually do it or not I can't say. I am actually a little more interested in some of the oral chaperone therapies being considered for study than I am the gene therapy/editing but I am not ruling out doing either of the gene studies completely. I do believe in them and have advocated both of them to other families and researchers.

In all this and there has been a lot it feels like and a lot of feeling really pretty badly (between headaches/pressure and heart rhythm stuff / breathing in this heat especially I still manage to find some level of normalcy or atleast what my normal is (I'm smiling as I write this). I am exhausted this wk and had my nephew again last wknd which I am always grateful I can still have him.  I am glad that at 12 he still LOVES coming! - He turned 12 on the 7th so my Mom and I had a bday party with family at my Parent's house last Sun.
                         In the craziness that is my life, Drs., endless medical stuff, balancing a 'normal' life and trying to figure out sometimes what various issues I am dealing with are being caused by (this wk and especially last wk I am doing a fantastic job ignoring a lot -whether good or bad things can wait and most is stuff I just need to f/up on related to insur/care that's going on anyways with a few things sprinkled in.
Less so this wk but last wk I ignored as much as I could and this wk well I just feel plain aweful and worn out (INR is pretty high so I think that has some to do with it) so takes till about 3 or 4 in the afternoon to feel 1/2 way human. I can't even tell you how much that stinks!

Honestly I think about this a fair amount but I am just grateful for my faith which helps me ride out some  of the hardest times and hardest struggles and that isn't to say I still don't struggle a fair amount. I do. But still I know it is only b/c of my faith and trusting God I am able to do the things I am despite all that goes on. I just pray every day for God to help lead me to better answers and if it be his will to a Neurosurgeon who again be willing to think outside the box. I just want to feel better pressure (head) wise!

This has ended up really long so i'll sign off for now but the UofMn study person is trying to coord a few things for when I am there including an appt with the Neurosurgeon I've seen there once in the past, to get his opinion.
Will try to update sometime soon,
Thanks for stopping by,


Friday, June 1, 2018

Cardiology Appt., Mitral valve changes - unusually, unusual

I had 6 month Cardiology Appt yesterday  with Echo for testing (basically ultrasound of the heart). Overall a good Appt., the big (I guess?) thing is mitral valve which has shown changes since we 1st did the mitral valve replacement 2.5yrs ago has increased some more from 6mmhg to 9-10mmhg which is not a great change nor expected with mechanical valves in the setting of my MPS (we chose mechanical valve despite the increased risk with blood thinners for the express purpose further valve issues do not typically occur).
 It's well known valves usually worsen in my MPS if tissue valve is used so that's definitely unusual and concerning to my Cardiologist but we just monitor.  - I don't remember for sure but think it was double digits when we replaced this valve 2.5yrs ago although I think there was also leaking then. Now it is at 9-10mmhg so high moderate range I guess for stenosis. Thankfully although concerned why it would keep worsening Dr.Earing also said there wasn't anything we'd do now anyways and we'd just keep monitoring. The good thing (and big reason why we can just keep monitoring) is there's no signs of recurrent CHF and PA pressures look ok.

 I guess he'd monitor most closely for recurrence of the CHF and I do currently (STILL, ugh! Yup I might be whining just a bit =D ) still take medium dose Lasix (20-60mgs, 2x a day) and Spironolactone (25mgs 2x a day) and then 3 or 4 other heart meds for heart function, heart rate and to help heart muscle. CRAZY though!
 If someone would have asked me before my 1st OHS if  I ever thought I'd go through more than 1 Open Heart Surgery much less the 3 I've already been through and then, lol heart overall and valve still be so imperfect I'd have thought they where CrAzY! Is what it is though I guess!? God knows the plan and I walk with him (thankfully and even when I falter he's still by my side)..
I take meds to help heart muscle function (low end of normal), heart beat/rhythm (was lowest it's been in a long time at the Appt (70s-80s, Dr.Earing was pleased with this and feels the Amiodarone likely is benefiting) and lastly I also take Ivabradine for heart rhythm, Amiodarone, Lisinopril (heart muscle), and the 2 meds for keeping fluid off +  the Coumadin and then Lovenox when INR is to low (to bridge till we normalize blood thinner level with Coumadin).
 In his note and we talked about it yesterday Dr.Earing did raise concern about how often my INR has been out of range and apparently that can have an affect on heart function - maybe b/c it's greater (thicker? lol I honestly am not sure) blood flow when we need really thin flow through the mechanical valves to decrease risk?
So we just monitor and watch and I keep working in my MPS Community to hope something comes along that might help my heart issues. Can hope!
I go to Boston Sun., to see my Genetics dr., I know he's working on a re-formulated supplement (Resveratrol) that the hope is it will act like a chaperone therapy, cross the BBB and get in to the heart + help clear out GAG where my weekly Aldurazyme infusions do not. The feeling is these therapies whether the Aldurazyme, the potential Resveratrol re-formulation or the Gene editing/Gene therapies studies (or all taken together) will all be complimentary therapies with no one likely to be a stand alone therapy. Whatever the case I just need something better - heck something that could calm my crazy heart rhythm down would be AWESOME! Is so darn ANNOYING!!!!

Dr.Earing also asked about the Humira and what the plan was with this. How would we know if I should stay on it. At 1st I wasn't entirely sure what he meant but explained that the biggest thing I've noticed is the spine-bladder irritation is so much improved (which was/is enough for me to want to stay on it). Dr.Earing was pleased with this and like my PCP and the Rheumatology Dr. just reiterated we'd have to con't to monitor for CHF (Heart failure, a relatively common side effect of this med I guess) and infection risk, He is okay with my continuing it though as there aren't signs of CHF at the moment.
Rheumatology messaged (MyChart) and called the other day they have started the Prior Auth process with my insur., for trying to get approval of the drug. They seem to have done their research and really listened to me/Dr.Simpson as in his note Dr.Pruhs not only lists my MPS I but then secondary arthritis (information more often needed to get the med approved per Dr.Polgreen).

The big take away really and it's not new is that versus any dramatic change on any of the bigger surgeries or meds I take I made the comment to Dr.Earing I tend to get smaller changes from a lot of the stuff we do and I take but taken together all of these surgeries and meds and therapies make a much bigger difference for my life and my care. Subtle alone but much bigger differences together if that makes any sense!

Will try to update sometime soon after I get home from Boston next wk,
Thanks for stopping by,