Monday, December 31, 2018

Happy New Year!

𛰐Happy (almost) New Year! I am kind of glad we are almost at a new year, 2019 I sure pray is a little better than 2018 as far as getting answers to these headaches. I feel like 2018 was the year of patience (which is really hard when you really don't feel that great!).

Other than really frustrating medical stuff I can't say the year was all bad, I definitely had plenty of good to, even if sometimes just little things.  I was able to do the humira study in CA and finish that which has helped quite a bit with the spine-nerve (bladder, and leg) irritation issues.
 It's been nice having mostly better nights in that regard. There are still occasional nights I wake up a lot but from this issue but no where near what it was and not every night.
 I really like the Rheumatologist my PCP got on board for taking this drug over (post Dr.Polgreen's study) and while he is overseas on a mission trip I am now seeing 1 of his partners who also happens to be a dr I saw in HS so 1 more dr who knew me some pre-MPS dx that now knows that it is.
Once my Rheumatologist comes back i'll likely switch back to him but this new/old one is very nice to.

National Institutes of Health - Sangamo
I had the opportunity last winter/early spring to speak at the NIH (Nat'l Institute of Health) for Sangamo which was definetly one of the neatest speaking opportunities I've had (I've done a few for various Pharma/Biotech and a couple patient mtgs/Conf's).  - I have always been a bit fascinated with the NIH and was just neat to meet the Director and so many others there who make the place (which is HUGE!) run! Although I am not doing Sangamo's gene editing study I am glad I had the opportunities I did to speak at their headquarters a few mo's before this NIH gig and then to speak at the NIH with their CEO and a few other researchers.

New/old Infusion
My infusion center which was somewhat new at the start of last year (I think I'd been there about 4-6mo) has con't to go really well. I love my primary nurse and the back up and other nurses are very nice as well. Sure if I didn't have to go every week it would be oddly nice but since I do it's nice that a team I like. Also nice that my PCP is on-site (same bldng) if we ever needed her.
The work I do..
I con't to work for the same foundation (Gene Spotlight) and thankful every day for this. Yes, there are many reasons why I am grateful for getting to work for this foundation but above all the getting to attend mtngs and have a closer view in to what's going on for research for my disorder and for families with my disorder so I can hopefully con't to help other families is AWESOME!
 I try to never take this opportunity for granted as I absolutely love what I get to do and getting to help others while also being honest it helps me to (both knowing what's going on for research and studies but also what may be coming for possible treatments).
 It's been 6 yrs I think and I hope I get another 6+ years of the same!

So what do I hope (pray?!?) for 2019??
Honestly I pray 2019 brings finnnaalllyyyyy a fix for this shunts - a new shunt, a shunt revision... SOMETHING!!!! I don't know what else to say but that's what I wish and pray for.
I pray to 2019 con'ts to bring stability for the heart stuff, that the 1 heart valve stays stable and that I as a whole can sometimes just be a better communicator (just in regards to what I am feeling to my drs.).]
   I also hope the rest of my team whom I really like cont's to stay in their practices and no one moves. I dislike change and I really like the majority of my team. =) I also get my new glasses in the next few days (if they ever come in, I suppose due to the holidays but the arrival date keeps getting pushed back. Weds now maaybbeee). Still as slightly impatient as I feel (I know silly)  I'd say that looking fwd to seeing better is not to bad a way to send out the new year - being able to see better, even if the changes are from an issue that's ever so frustrating! Maybe silly but I like getting new glasses (I like mine but has been a few years). Sometimes it's just the small things and well being able to see easier will be nice!
                                          
        Tomorrow, NY Day, am picking up Zander and mtng some of my family and my other nephew + his Mom to go bowling. I bowl in the most crazy way (really hard to hold the ball a normal way to throw it) but should be fun!
I pray each of you reading this has a good 2019 as well! To God be the glory that we get another year. Having lost so many friends I try to never take each day for granted (I am not perfect at this).
HAPPY NEAR YEAR!


Erica

Friday, November 30, 2018

UofMn Appt - Peds Neurosurgery

Weds I drove to Minneapolis, to the UofMn with a friend of mine to see the Peds Neurosurgeon there. I'd seen him a couple times before since he came to Mn and he's helped my team here.
Anyways honestly I am not all that sure what to think of the appt., I can't say I had high hopes (after awhile in this rare disease world you often learn to temper what you expect or atleast I have) but I did hope at minimum it would be an ok appt given when I saw him last summer he had ideas and really seemed to believe me.

I truly think (know) that my Neurosurgeon here has a big impact on the seeming change in opinion though. At the appt, the friend who was with me came in to the actual appt (I don't normally do this b/c drives me NUTS how Drs then frequently talk to the parent/other person but I made sure they all knew Connie was a friend and simply there b/c we made the long-ish drive together. They still needed to talk to me).
In this regard I give kudos to Dr.G he and I talked and he included Connie but he never tried to get her opinions on stuff she'd have no idea about nor did he try to influence the few times she just chimed in and corrected things he was saying. THAT I appreciated! Not always the case with all drs.

So anyways I actually am not sure how best to sum up the appt but I just emphasized the various on-going symptoms, how some things are getting worse. How it appears the LP Shunt isn't working right from the Shunt taps done some weeks or a month or more ago and that my other drs have tried to help (be it my Pain Mngmt dr or my Physical Therapist or others on my team in ways they can).
When I brought up the LP Shunt tap issue Dr.G asked (not direct quote) 'So did I think I really needed that shunt? And commented about how even if I feel best at very low pressures its very hard to get ICP (brain pressures) that low with a shunt (yah, I know..)

That was almost like he was now trying to say maybe  I didn't need 2 shunts (again I am VERY sure this has to do with my local Nrsgn) and said (again not a direct quote) 'well maybe your headaches are just tension headaches?'..  This to, I shared how I get the mini migraine like headaches (he asked about that then) which I then had to explain they aren't truly migraines but my vision gets affected and I can't sleep laying down and how pressures (headaches) are worse at night and in the morning + slowly improve after I am up.
I made sure he knew about the Neuro Opthalm. last year and how those visual field studies where really off before a shunt revision I had and then improved after + my Eye dr was concerned enough she called my Nrsgn to let him know she really felt this was shunt/pressure related. Equally so after the shunt was revised the same test results where improved and this same dr reached back out to my Neurosurgeon to make sure he knew this. I see that Eye dr in  a few wks and as much as I hate those visual field studies (oh man they stink!) I am curious how they will be.

Re options b/c Dr.G seems very uncertain now he is willing to do ICP monitoring (damn I hate how fricken that's always the back up plan, basically a way to try and prove me wrong I suppose). He is going to reach out to my former Nrsgn and my current one and see what the progress is on that implanted intracranial pressure monitoring device is (this to so then another few mo's living with these symptoms. I seriously want to roll my eyes!) Otherwise he is willing to do ICP monitoring again after emphasizing this isn't risk free (requires  a small surgery though I do know Dr.Bragg placed one years ago while I was completely awake..) and I'd be blinded during it (cause you know as a patient I'm going to sit there the whole time and watch my brain pressure #'s. Everytime some Nrsgns think that/say that I seriously just about LOL, I am not a very exciting person but even if a hospital I can find better things to entertain myself that watching a freaking monitor to try and psyche myself out. But hey whatever floats some drs boats, the irony though for real just makes me roll my eyes how stupid it is - basically implying they think we are perhaps crazy (sometimes I'm surprised I'm not by this point!!!) for what symptoms we feel. <-- Insert rolling eyes here.

Anyways so that's what I know for now. Wait and see, wait and see... Amazes me how a dr can believe you and then b/c another dr talks to them to share their very jaded view things are completely different. I will just say I said more than once at this appt not only do I as a patient have far better things to do than (basically) waste mine and their time but as unexciting as I am I can think of about a 100 things I'd rather do than sit in a drs office asking for help or for that matter sit in a hospital knowing it's less than clear to your dr(s) you really need to believe you..
Stay tuned I guess. Will update when I know something.
                                
                             
Thanks for stopping by,

Erica

PS: As a side note, I just want to say it may be I don't talk about the rest of my team a lot but as frustrating as things are with this shunt stuff  I absolutely am grateful to my Primary Dr (she is amazing, and really tries to help where she can and never seems afraid to reach out to others on my team if she feels it's needed). The rest of my team is also good and as frustrated as what I write sometimes here or on fb it isn't about my whole team.  I am truly grateful for the ones who believe me or try to figure things out to help.
Even this MN dr., I don't really blame him. He's influenced by my Nrsgn but atleast he's trying to help. So while I feel a bit exasperated I am still grateful

Tuesday, November 27, 2018

Headed to UofMn - Peds Neurosurgery Appt.

I head to UofMn (Minneapolis) Weds to see the Peds Neurosurgeon again (last saw Dr.G last summer when there for the neurocognitive study for my MPS I, I had tacked on the addition appt with him before I flew home).

Anyways I had emailed Dr.G a couple weeks ago sort of updating him on what has been going on and lack of progress despite what suggestions he had given my local team. He suggested I come and see him again if I could and "we'd discuss options". There where appts available sooner but I had other stuff going on and tomorrow worked best for my schedule. It also worked out that a friend of mine was able to take off work so she and I are driving up there together (often otherwise my Dad and I would drive there together minus the times I fly to Mn).
I honestly don't know what to expect or hope from the appt but I guess perhaps just hoping he will still be willing to help and either by some miracle be able to convince my local Peds Nrsgn to do something (not holding my breathe sadly) or that he (Dr.G) will perhaps still consider some of the options he had thought might help when I saw him last summer.
If you believe in prayer then please pray for a good appt and us to be able to figure something out. I super do not want to drive to Minneapolis but also so want to feel better! God knows his plans, right?
                                    

Hope everyone's thanksgivings where well and blessed. Although I did not feel very great it was a nice day with family - not to much stress and drama if any usually starts after. I had my nephew the night before and for lunch + several of my other nieces and nephews where here so was pretty good overall.
Sunday School we are starting our holiday lessons and I've been getting ready for our SS Christmas party (I love our SS kids and getting to share the joy of Christmas and Christ's birth with them and honestly learn from them to!). These kids literally make my week which I feel lucky lucky for! Getting up so early on Sunday's is not high on my favorites list but at the same time I know when I see my 1st kid(s) come through the door Sunday mornings it's so truly rewarding!!!

Thanks for stopping by, will try to update later this wk.
God bless - to him be the glory!

Erica

Monday, November 5, 2018

Long over due update

Honestly I don't even know what I've all not updated on as it's been almost 2mo since I've updated here but I just could never quite get myself to sit down and type out an update.

I'll try to keep this short and just the basics..

I guess the main things are the shunt stuff is still going on, we know now the 1 shunt (LP Shunt) likely isn't working like it should from a shunt tap that was done some wks ago so that likely explains my headaches and every increasing symptoms (which have been kind of aweful). - My Nrsgn doesn't want to fix this though till he gets some device he's been trying to get approved past the FDA or Pharma approval and that's been moonnnttthhhssss + even after he would get approved it then would be 6mo more of it being implanted apparently that he would be collecting intracranial pressures remotely BEFORE he'd consider revising my shunt or doing something else. All I can say is what the frick?!?!? It has been so frustrating. -
I don't remember if I updated about that or not but I saw the UofMn Nrsgn a few months ago and he had given a few suggestions for things he thought might help the situation but those of course where discounted and never considered. I still can't quite figure out why my Nrsgn wanted other drs opinons if he never actually was going to consider what they thought? I wish this where an easier answer and weren't so hard to find a different dr. - It's not even that my Nrsgn is a bad Nrsgn, clearly he's good at what he does but for my case he is adamant against learning about my underlying disorder and actually helping. =/

Otherwise just the day to day - holidays are creeping up or I guess really are in full swing since Halloween is over and thanksgiving in a few wks. I can't quite get in to the swing yet but have been planning for Sunday School for our Christmas activities and that part I really love as well as when Z (my nephew) comes next since he LOVES Christmas trees will let him put mine up and decorate some. I honestly could do without the extra clutter but it is kinda pretty when it's all said and done decorating. =D)

The humira study I was in finished up a few months ago and I have stayed on that drug, every other wk (usual dosing for humira). We have the Lasix heart med at a stable dose now and that seems relatively ok along w/the other heart meds.
I go back for the x3 mo botox injections later this wk which helps muscle over activity (dystonia/spasticity)  and although I could do without the actual injections I am looking fwd the help those give! I'll start PT again in the new year and between not doing that and we had tried a lower dose of botox this last time my back muscles have been less than great. I actually look fwd to those injections which is CrAzY!

Will try to update sometime sooner this next time although really it's just been a lot of mundane, same ole same and mostly trying to not lose my mind (kind of kidding but at same time is frustrating) with the shunt stuff.
Thanks for stopping by,

Erica 

Wednesday, September 19, 2018

Primary dr., Cardiology Appt. Anesthesia dr run in (so sweet)

Copying most of this from updates I did on fb (with  a few edits) so those who are on facebook well forgive me but sometimes it's just easier or I'm just being lazy or perhaps both. =)
This said see below for today's Cardiology Appt and run-in w/the Peds Anesthesia dr. This anesthesia dr had done all 3 of my open heart surgeries, several heart ablations and cardiac stuff (she's been really great for helping my care at other centers through a summary she had written up of her airway findings and what she used for accessing airway in the 1st open heart surgery and subsequent cardiac cath.). After that she's done other things to help. Anyways see below about running in to her and the Cardiology Appt.

Children's Hospital  Cardiology Appt:
 - My PCP wanted Cardiologist opinion about newish symptoms whether they where heart or not (this not being very clear).
 Dr.Earing (Cardiologist) is not completely sure what's going on (💜 that he's honest atleast!) whether it is heart or not but orderered a Chest Xray (lol, I think he's always surpised I know what I do or am as informed as I am about my insur and how it works) + wants to see results of the liver/stomach ultrasound Dr.Simpson (PCP) ordered (scheduled next Tues right before my infusion).
Doesn't think (or is less likely) its heart failure (yay to this!), he's not to worried about the Humira (double yay (!!) ) given risk for CHF w/this.
  If symptoms are not better in a wk w/lasix adjustments then he'd do an Echo (ultrasound ) sooner otherwise the next one of these is in Nov.


Otherwise Dr.Earing just said, which I know, there is alot of issues in my case and what of these is causing the current problems, his biggest concern seeming being the VPL Shunt but he seemed to think it could also be liver congestion (not entirely sure what that means and can't remember what he said but I know Dr.Simpson wondered the same) or other stuff to from what he seems to think.
'Lol, an indirect quote but as he said 'In your case it's never or rarely to clear'.
                                                        
Run in with Peds Anesthesia Dr -
After the Cardiology Appt I had a few calls to make so was standing outside the skywalk in CHW (near the parking garage) making these when none other than the Peds Anesthesia (airway) dr., Dr.Taylor whose done all 3 of my open heart  surgeries and my 2 heart ablations + 1 other procedure came up behind me and said hi.
So sweet she recognized me (it's been 1.5yrs I believe we last saw each other!).
She and I stood talking for a little while + after asking "you look good but how are you really?" she was asking about the headaches which it is crazy (but so sweet!) she remembers all this. She was truly great! There is a reason some Providers make an impact in a patients life and she was truly one of them in mine.
  After talking about all that is going on and the troubles we've had and without my asking she offered to talk to the  head of Neurosurgery at FMLH/MCW see if anyone he might recommend. She said she would email me if she gets any leads.
We stood talking for quite awhile, 💜 I love  Providers who genuinely care even after they no longer care for you! She is the type I'd gladly take on my team any day!
        If I'd have been thinking I'd have asked her to take a pic in none-hospital attire, lol!
Now just 🙏 these symptoms settle out! Ultrasound scheduled Tues before ERT (Infusion) at Dean. Cardiology will be able to access results through Care Everywhere system and Dr.Simpson will receive directly. 
I am to update PCP this week (the wait time on hold was getting really long when I tried calling today and mychart at Dean is down this wk) so i'll try calling her Nurses tmrw to update her + then I am to update Cardiology next wk (or it sounded like they would call me but either way I recheck INR on Tues and they call back with that result so I imagine we'd just talk then) + we'll go from there.
Thanks for stopping by,
 
Erica

Wednesday, September 12, 2018

Revisiting an old (Neurosurgery) potential option.. maybe.. Cardiac stuff-PCP med changes

**Update(s).. Kinda long..
I see my Peds Neurosurgeon (Dr.Iskandar) Thurs re his call w/Dr.Guillaume (UofMn Peds Nrsgn) a few wks ago.
I have exactly 0 idea what to hope from this appt other than we can figure something out..
This said talking to Dr.Bragg (my former Nrsgn, now in AZ but we've stayed in touch and she helps my team yet) she spoke to a former colleague of hers at UW AFCH re a option Dr.Bragg has long advocated I consider...
Dr.Bragg explained my case, our issues and the complicated problems we've had/have with to little space for spinal fluid/brain and needing to drain really low) to Dr.Mount and my need to drain at extremely low spinal fluid (CSF) pressures to feel/do best...

Dr.Bragg told me Dr.Mount apparently agrees the bone thinning procedure (surgery) is what we need, to help create more room for my spinal fluid and thus shunts to work better.. This would enable more room for CSF (spinal fluid) in my skull. If your thinking that sounds aweful well I agree and have thought the same for years!
I unfortunately avoided learning more about it the entire 5 yrs I had Dr.Bragg here (she'd bring it up from time to time, how she really felt that's the only way we'd get a longer term resolution to my needing to drain so low).
2yrs after she's been in AZ and its just been really, really difficult I feel like

I need to atleast need this other dr and learn about this possible surgery..
Right now there isn't enough room for CSF and I only feel really good when we have Spinal fluid (CSF) leaks.
The surgery seems scary but its actually not cranial vault expansion (where the skull is widened and reshaped).
In this surgery I guess per Dr.Bragg usually the front of skull bone is removed, thinned and then put back in place (w/mini plates and screws). Weird, right?!?

At this point I'm pretty sick of these headaches and the intermittent side effects + especially the affects this unintentionally has on my heart (to much thickened blood through the I guess can and is affect the mechanical valves and is what's part of causing adverse problems they suspect to my mechanical mitral valve now.)
Dr.Bragg is going to ask Dr.Mount if it's ok I reach out to her + I'll talk to Dr.Iskandar @ Thurs's appt.

 WTH right? Could it be any worse then the 3 Open surgeries? It wouldn't be touching brain at all and perhaps not as bad even as the many spine or actual brain surgeries I've had (a few of those where brutal). 🤷‍♀️
Nothing is concrete and everything could change so there's nothing for certain about this but I'm finally willing to talk to this other dr and get info if that is to be the case.

If in fact w/my MPS and lack of intracranial space/need for brain pressures to be very low this would help I just may finally consider it. (As mentioned above we know I feel best at negative ICP #'s but these are really only able to be replicated w/External shunts (w/external drains I've always been great at -5) or Spinal fluid leaks. Neither of those are long term options.
Most people feel good around +10 ICP or higher). My need for negative -'s says alot about need for early Hydrocephalus diagnosis.
Dr.Bragg and Dr.Mount seem to think this would/could help per Dr.Bragg so.🤷‍♀️
                                            

**********
stuff... Uncertainty.
Re the Heart stuff, have been dealing w/fluid retention and small weight changes (after quite a bit of unintentional weight loss over the past few months) + breathing is just harder intermittently lately.
My PCP had asked that I come in and see her which I finally did before infusion today (Tues).
She is talking to my Cardiology Team I guess re this all and increased the lasix again..
Dull would be to normal I guess

Friday, August 31, 2018

UofMn visit, Peds Neurosurgery visit - 2nd opinion. Post Humira Study - Rheumatology visit, etc..

It has been a long while since I've update here mostly b/c I just haven't felt like updating. I genuinely like writing and doing this is a bit cathartic but well I just haven't b/c I hoped I suppose maybe if I waited long enough I'd have some good update. Alas somewhere in-between but still nothing really on the shunt front - see below.
                                    
                                                          
UofMn  - Dr.Guillaume, Peds Neurosurgery.
Because I like to torture myself I was in Minneapolis (flew there vs driving) for the longitudinal neuropsych study-testing I'd been a part of for yrs (but missed the past 4 or so yrs. I was apparently last there for this study 4yrs ago).
Anyways since I was going to be up there my PCP had suggested I see the Peds Neurosurgeon I know/have seen last year at UofMn and get his opinion on what's been going on with the shunts or more specifically with my headaches (as likely the shunts are working atleast partially if not fully but other than when I have spinal fluid leaks along w/the shunts I rarely feel overly good. This being b/c the shunts drain fluid from the ventricles in the brain but not the fluid that is outside the ventricles in the skull and what likely causes my headaches but also why spinal fluid leaks cause my headaches to be relieved (if that makes sense).

That appt went well though how it will tranlate to my Neurosurgeon remains to be seen. Doesn't seem very promising and that honestly is really, hard but I am trying to be positive though I'd be lying to say dealing with this over and over is easy. I just want to feel better and knowing it's basically as simple as needing to drain more even if keeping draining more is difficult (I get that) is difficult.

UofMn Neurosurgery Appt - 2nd opinion
Dr,Guillaume the neurosurgeon I saw again mentioned a few options he felt might be good options (see below for more on this following the appt) but this included it might be better to re-locate the 1 (LP Shunt I believe) shunt to drain from cisterna magna (base of skull), where more CSF (cerebral spinal fluid) is. He wondered/thought it may be  a better spot to relocate the 1 ( current LP) shunt to  get closer to the  negative pressures I feel best at.
The other was a different programmable valve made by Sophysa that drains lower than my Codman Hakim valves do and he felt may give better drainage/relief.

1 of the other things Dr.Guillaume mentioned was b/c  I have the 2 shunts, 1 in the brain and 1 in lower spine that it may do better to switch the current programmable valves I have (Codman Hakim programmable valves) to a valve that drains at much lower CSF (again spinal fluid)  pressures than do my current valves. So the big thing we talked about was
1. trying the Sophysa lower draining valve to get more CSF off and get closer to the negative (CSF, brain pressure) we know I feel best at.
    OR
As mentioned above try moving the LP Shunt to cisterna magna where there is more CSF (a bigger CSF space then where my current Lumbar Peritoneal Shunt sits/drains. I wish and no I don't want surgery but I sure do want to feel better!

Dr.Iskandar asked that I make an appt with him which I have for a couple weeks from now (I have other stuff next wk and try to find a balance between life and not tooo many appts in any given wk. Often the balance is skewed already but I really try to do no more than Infusion 1 day (1 trip, hour drive 1 way) and 2 other appts which more often than not are on 2 different days so already 3 days of appts/driving).
 I am praying Dr.Iskandar will atleast reconsider 1 of the 2 things Dr.Guillaume suggested. That he will keep in mind what other of my Drs have said and the affects the not draining enough is having on other of my MPS issues. I just want to feel better, it's not like I (anyone!?!?) would willingly want to have surgery!? I guess time shall tell. I am praying.

The original plan was he, Dr.Iskandar and Dr.Bragg where all going to have a conference call but I received emails from Dr.G and Dr.Iskandar earlier this wk and the two of them had spoken.
The reason I felt it was important Dr.Bragg be part of their conversation even if she's not been my Nrsgn for 2yrs now is b/c she had such a good understanding of and vast experience with my shunts and skull compliance issues (her near 40 surgeries and 5yrs on my case vs Dr.Iskandar and I have been seeing each other for 2yrs and I believe he's done 4 surgeries). I will never say he isn't a good surgeon, he clearly is. He's brilliant in fact but our ability to communicate effectively with each other has not been great. I hope at some point it gets better but it's hard in the process.
                                             
International MPS Conf - San Diego
Otherwise a few weeks ago I was in San Diego for the International MPS Conf which was actually really good! SOOO BUSY and jam packed as I had so many mtngs and when I wasn't in mtngs I'd be on my way to a talk only to run in to someone I know or knew but hadn't yet met but it really was neat! This International mtng meant there where families, researchers, drs, and biotech from literally all over the world. I also sat on the adult panel and gave my talk on 'transition to adult care' which seemed to go over well.

Last Humira Study Visit - Los Angeles
Last wk as if flying to San Diego 3 wks ago and Minneapolis 2 wks ago wasn't enough I flew to Los Angeles to wrap up and finish the Humira study. I am glad it's done and the traveling to LA is done but also glad I did this study! I in fact saw my Rheumatologist today for the post study f/up (2nd time I'd met him) which went well. He unfortunately told me he is moving to Guam for atleast the next yr so is handing me off to 1 of his colleagues (ironically a Rheumatologist I saw back in HS, 1 of the 1st Specialists I was sent to from my then Peds Cardiologist and a local Neurologist who sent me to a Hand specialist and that Hand specialist sent me to this Rheumatologist (who then sent me to a Peds Neurologist among a few other drs).

 This Rheumatologist is 1 of the drs who suspected there might be something underlying going on. She had tested for Peds RA (rheumatoid arthritis which many of us MPS I pts get tested for and are suspected of having before the right diagnosis (MPS I) is eventually found amongst a few other inflammatory disorders she had done blood work for. It is often funny how the circle of care works sometimes. Many years ago (10 or so yrs ago, before my current PCP)  I had been sent back to a Peds Neurologist I also saw in HS though that dr then referred me to or suggested someone else she felt was better though I don't remember who that was (this was before I'd found Dr.Bragg, my former Neurosurgeon).

Anyways so my current Rheumatologist did put in a new order for the current humira and just continued to emphasize the heart failure/infection risk with humira and for now benefits outweight risks. I am a little sad to see him go. I really liked this guy! =)

Pulmonary - Pulmonary Function Testing:
I saw my Pulmonary dr about a month ago and then had pulmonary function testing a few wks ago. I don't know the actual pulmonary testing results yet but the results sent to me seem to show some significant changes. I asked my Cardiology Nurse if she'd ask my Heart dr what his opinion is. I may ask my PCP, I actually kind of just forgot about asking her this (I feel like I am always asking her questions although she is awesome and doesn't seem mind).  Next yr the Lung function testing and pulmonary appt will be coordinated together so I can get results right after from my Lung (aka pulmonary) dr. I may just email and ask her. She also is a really good dr.

Sunday School, etc.
Otherwise besides whatever I am forgetting Sunday School starts back up next wk. It's always a little amazing actually how fast the time between when SS sends in May to when it starts back up in Sept goes but other than getting up that extra hour or so earlier I am looking fwd to seeing our kids again and to another year. Hopefully I have everything organized and our teachers are ready! God is with us so who can be against us as we start a new year!?
Please say a prayer if  you will that something is able to be sorted re the shunt/headache stuff. It's been soooo nice having the spine-nerve bladder stuff being calmer at night (thanks to the humira) so if only to get the shunts (pressure) better!
Thanks for stopping by,

Erica 

Monday, July 30, 2018

Sometimes it's just hard.. sometimes it's depressing w/out being depressed.

Just let me start this off by saying I am not depressed I am not overly worried and I will be fine I just have a lot on my mind the last week or so and have not been feeling good ALOT. Most people would have zero clue or some who know me might be able to tell a little but I seriously have not been feeling good.
 Some is usual stuff (which is incredibly sad to even consider that!), like headaches albeit they just keep getting worse, so mornings really suck and every morning I have to admit I wake up and I wonder is this every going to be better again? Am I ever going to find  a Neurosurgeon who will believe me and help me again? It is truly depressing (again I am not depressed the whole issue is just depressing, that does not mean I am depressed. I'm not).
                           
                  
Some nights in the middle of the night when I wake up and get up to take a med for nausea or something else to try and fall back asleep I wonder what have I done that I have to feel this bad? That I can't find a dr again who will believe me (I otherwise have a really great team of Providers, I am grateful for my PCP and all she does and the rest of my Providers minus Neurosurgery are great).
 It is depressing. I know it's not me but that doesn't mean it's not hard day after day after day and honestly the fact that vast majority of people who see me have no clue. I am glad I can hide it but sometimes I guess maybe it would just be nice to have someone who could see that underneath the smile and the sometimes crabby mood and the tiredness it's not actually about me being crabby or in a bad mood or about me not wanting to talk to you or whatever people might think (I over think these things) but it is about it takes to much energy to that I don't always have.

Catch me later in the afternoon and it's a different story. It's like a shade is pulled up, my head clears, the pressure goes away and I feel a lot better. I am not always a lot less tired but I can function a lot better b/c my head isn't in as much pressure...
Add to this now for the past month or maybe it's even been a couple months now, I can't even remember anymore it all blends together after awhile but the breathing/fluid stuff had/has picked up and is an issue again. Thankfully my Primary dr is really great and often without making me come in she helps manage these things and figure out what might be going on.

In the case of this swelling/breathing I did end up going in to see her and she in turn called and talked to my Cardiologist (Heart dr) but before even talking to him (she was persistent took her a week or so to get ahold of him albeit he is a great dr and we both really like him) she had re-upped my 1 water pill dose (gets fluid off from heart/lungs) and was considering a few things.
She also reached out to my study dr for the Humira as that can cause heart failure issues (we knew this going in to the study but my team felt the risk was small and potential benefits pretty good for my case. The Humira really has been good for my spine-nerve issues to calm this.
                                                    
Needless  being completely honest (and very negative but seriously I think I'm a little bit allowed albeit I say that kind of smiling and shrugging) it has SUCKED being back on this high dose Lasix and then I am also still on the other water pill, a longer acting 1 2x a day that gets fluid off over a longer period. This means managing how much I drink, somedays I do better than others and I don't have a set amount I can drink but I try to not over do it. It also messes with some mineral levels though I do already take potassium and magnesium which are 2 it can affect.
For now my Team is letting me stay on the humira and I see my Cardiologist in a couple weeks right before I have the 4th carpal tunnel release on my R hand so guess will see then.
I get some swelling yet as the day goes on in my ankles but stomach has been a lot better. The truly ironic part is overall my actual body weight is down by around 7pds before and since starting back on this higher dose. So I was retaining fluid but also losing weight (I'm very sure some of that is shunt related, I often only eat 1 meal a day).

So I guess I just pray and keep praying somehow I could find a new Neurosurgeon who'd be willing to take on my case and to really think outside the box as that's what Dr.Bragg did and it's the only way my shunts can be successful. God has a plan, right? I just need his help waiting.

4th Hand Surgery - moved up to Sept 10th
In the meantime the 4th hand surgery on R hand was moved up to Sept 10th (not sure why they moved it up but not complaining as that hand is something so painful. I should do better and just wear the splint. I think I may this week while traveling but I will be happy when it's just done and over again!
For that surgery everything is set minus seeing my Cardiologist the day before (just to be sure per my PCP to make sure Dr.Earing doesn't have any concerns but anesthesia is already being done under MAC so monitored and least amount of fluids will be used and is least harsh surgery approach on cardiac system.
We are waiting on cortisol stress dose recommendations from my Endocrine dr but if for some reasons those didn't come (would be very unusual) my PCP said she plans to use what she received from this same dr for the last hand surgery about 4yrs ago. I LOVE that my PCP is that organized!

Lastly I am traveling to San Diego later this wk, I get botox injections tmrw with Dr.Caldera at UW then ERT (Infusion) at Dean on Tues and fly out of Madison on Weds to SD for the Conf.
I have a slew of mtngs with various pharma/biotech peoples throughout the conference then have a talk I am giving on Thurs night (Transition to adult care) + other stuff i'll have going on and the talks i'll listen to off course. This is our National MPS Conf but this year is actually an International Conf so will be families, Drs and researchers from many countries there. Should be good!

Thursday, July 19, 2018

Cardiology; surgery. Humira; questions

PCP/Cardiology:
Hopefully just a quick update but my Primary dr., messaged this morning (Thurs) that she had gotten ahold of and talked to my Cardiologist.  (I am so grateful I was given her name 5 or 6yrs ago; she's persistent and never seems to give up no matter how much is going on with my case). I am grateful despite her having known little to nothing about my MPS she in fact did learn and will ask if she isn't sure about something. I so appreciate she's never afraid to reach out to other of my Providers and always willing to learn or figure something out!

Dr.Simpson  and my Cardiologist spoke, she shared with him what's been going on and he seems to agree with her that I am dealing with fluid issues and that going back up on the Lasix (gets fluid off) was the right decision.
He per Dr.Simpson feels due to my mitral valve and the issues we're having is due to fluid sensitivity due to the mitral valve problems (ya know, the 2nd valve we replaced approx. 2.5yrs ago. No one is quite sure why my body has done the quirky things it's done with this valve or in general why my heart issues are so significant for an MPS I Pt.)
 Initially Dr.Simpson, Dr.Earing per her message wondered if it had some to do with increased fluid in the Humira I get every 2wks but that is an injection not an infusion so is very little additional fluid. This will stay the same and nothing will change with the humira injection or study I am in thankfully.  There's back and forth question if the humira is causing these issues but so far team has let me stay on it, I think b/c I have had good changes/affects from it even if there is some question of possible cardiac involvement/side effect (I don't think anyone is entirely sure yet if the Humira is causing these changes).
The weekly enzyme replacement infusion I get is also 1/2-to1/4 the total volume other MPS I Pts get so that's not the issue or cause of the fluid overload..  My body as Dr.Bragg (former Neurosurgeon) used to say just doesn't do normal - my body reads the 1st line of the manual then makes it's own rules (shrugs).
                                            

So for now we're just staying on the increased Lasix dose, Dr.Earing was apparently reassured I'd just seen Dr.Simpson but Dr.Simpson wanted me to see Dr.Earing or 1 of his colleagues before the hand surgery on the 10th if possible. I fwd'd that to Jane, his Nurse and she was able to make an appt the 9th so we'll go from there.  
Pre-op for the Hand surgery is with 1 of the NPs in Dr.Simpson's clinic which will or could add an extra layer of confusion but I also know Dr.Simpson is pretty cautious and likely will make sure things are squared away and what's needed is in place.
 I've let my Endocrine dr know so they'll fwd their pre/post surgery cortisol mngmt plan to my Hand surgeon and my PCP prior to surgery.

Pulmonary:
Pulmonary, yesterday (Weds) Dr.Biller wanted to see what Dr.Earing thought 1st but thought we should probably re-do the PFTs (breathing tests) and maybe a CT Scan (Dr.Simpson wasn't sure we'd need the CT so I'm not sure). Per Dr.Biller's request I was to let her know when Dr.Simpson/Dr.Earing spoke and she'll schedule the other stuff I guess.


Hopefully it all works out ok and comes together! Otherwise I travel to San Diego in a couple wks for the International MPS Conf., I am hoping I am feeling a bit better but wouldn't be the 1st time I guess I traveled when I wasn't feeling great if not. After that I go to MN mid-August and later in Sept to L.A to finish out the Humira study.
Will update when I know something new.
Pray for good answers, meds to work and this to resolve if possible!
Take care, God bless,

Erica

Tuesday, July 17, 2018

Humira, Heart, newish symptoms.. ? Seeing Pulmonary, Hand surgery, etc

                                                 
For the past how ever many weeks (I can't even remember maybe a month or could be longer now, maybe it's been more, it all blurs together after awhile) I've been dealing with intermittent swelling that gets worse as the day goes on and by end of day my ankles/legs and stomach get pretty swollen despite overall I've actually lost weight (going back up on the Lasix has helped this a lot which is so good but sucks if i'm being honest even if it's being really negative about it actually as I am tired of that med and just don't want to need it).
 I've had increase in breathing difficulty though this is nothing that would be apparent to someone else as it's just a difficulty getting a decent/regular (?) amount of air without having to think about it. Hard to explain I guess but it's frustrating though as it's very similar to before the heart surgeries. I do think this hot humid weather isn't helping but even when inside it's not all that great so I think there's more to whatever is causing this.

It has been ridiculously hot/humid here and from the start of the Humira study the bigger concern was  being sure this drug didn't cause heart failure in my case (an issue we dealt with and managed before my 3 OHS but has been stable and not an issue really since). I shared pictures of the intermittent swelling w/my PCP then saw her a couple weeks ago as she was/or is  concerned the symptoms I am experiencing may be heart failure acting up or heart related and possibly related to the Humira.
 At this point if it is she thinks we can manage with the Lasix as long as my symptoms improve which after she upped the Lasix dose back to the 60mgs 2x a day I had been on up till about 6mo or so ago symptoms have improved atleast some. Dr.Simpson requested my Cardiologist input (I talked to his Nurse last wk as I was getting INR results from her and she was going to pass Dr.Simpson's notes to Dr.Earing albeit a week later and she (Dr.Simpson) has had to leave a few more messages.
Jane had emailed the INR results on Tues last wk (was super low on 2 different occasions last week but then the level was just above range and slightly high on Tues and then today (a week later) was high again  (Coumadin could drive a person to drink its insane!).
 I'm not sure why Dr.Simpson isn't hearing back from Cardiology, its weird actually, usually my Cardiologist is great about returning providers calls and yet nothing?  For now I am continuing the Humira and we just hope we can figure something out, hopefully Dr.Simpson can get a response from Dr.Earing?
My Study dr had asked me to let her know what he (Dr.Earing) said so I just have been giving her what little updates I have; it's all a little confusing being completely honest with 3 different drs involved albeit all 3 are very good and I know we'll figure it out at some pt. Soon would be great though b/c seriously right now it makes me feel a little nutty! I know I should trust myself,  I KNOW my symptoms are real and the issues is real but when you continually have to rely on others to help it IS hard incredibly hard for me.

What I really want is to not need the Lasix (I hate that med) and yet to be able to stay on the Humira! I'd gladly give up just about any of my other meds minus a couple that have clear impact/help for me but the Humira has made a really big difference in the spine-nerve bladder stuff and that's so incredible after so many years! I wish this breathing/swelling stuff where just simple and Cardiology would return my PCPs call. I completely get that Drs are busy but it's hard when you don't feel good and I guess as i've written about before I think I have gotten even worse at trusting myself since the whole (kind of) mess with my Nrsgn and his note questioning that I understand him. I just want to feel good once, to be able to breathe normal, to not need all this med to get/keep fluid off and all the other meds on top of the headache/shunt stuff. I am tired I guess of it all albeit that never means I am giving up, just that at this point it is frustrating.

 My Study dr has also been weighing in and is involved + they all are figuring out what if anything we need to do. -- Hopefully NOT discontinuing the Humira! There are some meds I take I couldn't say for sure how they help but the Humira I can say exactly the ways it does and it's been such a relief. Say a prayer my Team can figure this out and we finally hear back from Cardiology I guess!?
 Pulmonary - normal f/up but good timing (see if she can help)
I also see my pulmonary dr tmrw (Weds) at FMLH so we are hoping maybe she might have some thought or insight and maybe be able to help. My case just seriously never seems to be clear so I never get my hopes up but I still do hope Dr.Biller might be able to help somehow? My PCP thought getting her opinion was worth it especially since I was seeing Dr.Biller anyways.. She's been part of my Team since I was 1st diagnosed with the MPS I so she knows me well.
Seeing Peds Neurosurgeon - UofMn
On 2 separate notes I am seeing the Peds Neurosurgeon at UofMn when I am there in a few wks to get his opinion. I don't know that I am overly optimistic but I hope he can weight in and maybe give some advice on symptoms/the pressure-headaches (shunts). Is worth a shot.
 Giving A Talk on 'Transition to Adult Care'
On 2nd note I have been asked to give a short talk on 'transition to adult care' at the International MPS Conf., which is the conference this year hosted by the US MPS Society but including all countries MPS Societies. Should be good! I hope I am feeling better by then but if not I guess wouldn't be the 1st time I traveled when not feeling that great.
Hand Surgery date moved up:
And a 3rd note, the hand surgery which has been scheduled for Sept was moved up today to Aug 10th. The Hand Clinic called needing to change the date and the 10th was 1 of a few dates they had which I could do. This will be my 4th surgery on my R hand but a new surgeon.   Odd that in needing to change the date they could actually do sooner but guess that's ok.
 Only bad thing is the pre-op is not with my PCP and she is sooo familiar with my history and issues so has always been phenomenal at rounding everything up before each surgery. The (new to me) NP I see instead will have a bit of figuring out to do but I guess we'll figure it out.
 I've already left a msg for my Endocrine dr atleast so that pre/post surgery cortisol dosing will get sent to Hand surgery for the surgery.

I'll try to do an update sometime soon when/if we hear from my Cardiology Dr and also with how the Pulmonary (Lung) Appt went.
                                                       
PS as a quick side note in just a few days it will be 5yrs since the 1st of the 3 OHS. Amazing actually all that's happened since then. 5yrs ago I certainly never expected would be like this although the OHS's really did help, just I guess not as much or maybe not for as long as I would have hoped? I'm not exactly, entirely sure given the continual seeming changes.
Thanks for stopping by,

Erica

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,

Erica

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!!!!

Humira
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,
Erica

Wednesday, May 16, 2018

Hand Surgery (Appt, new Dr., 4th surgery scheduled). Rheumatology, Neurosurgery, etc.

This is another of those posts i've been writing over a week or two so bear with me. Sorry! -
                             Yesterday was MPS AWARENESS DAY                     
                                        My Infusion Team and I
Hand Surgery Appt - 4th time around
I saw a new Hand Surgeon today which I have to admit I was nervous. I kind of hate meeting new drs and especially new Drs when it's an issue where they will be dealing with an issue you've had numerous other Specialists (or in this case Surgeons) for. In the case of my Hands I've had 3 surgeries on each of my Hands since 2002 with each consecutive one being more complex then the one before it and each one (1st set, 2nd set, 3rd set) done by different Surgeons. The 1st ones where done in BD by an Ortho Surgeon (actually he's 1 of the docs that sent me to Madison to Dean to a Hand Specialist as Dr.Callahan felt there had to be some other reason why the muscle loss at the base of my thumbs was so severe and my joint restrictions). From there was several other Specialists and well the long-long journey to my true and final-real diagnosis (many others where considered in the process).

After the 1st two hand surgeries it was some years before I had the 2nd hand surgeries which included the tendon transfer on the R side and then I think about 4 yrs between the R hand surgeries (which where about 1-2yrs apart) and the L hand surgeries which where done by Dr.Bliss at Dean and included the fat pad grafts on each hand and also about a year or 2 apart if I remember right. With the 3rd surgeries the recoveries where pretty easy even with the splinting in total being about 4wks.

This time a few wks after I had scheduled the Appt with my former Hand Surgeon the office had called (last fall) and said that Surgeon had left (was kind of weird! Seemed super sudden and you know most Surgeons or Drs send a letter or something?) well anyways so the original Appt was rescheduled to earlier this Winter and then there was bad weather or maybe I wasn't feeling better, I can't quite remember so I had to reschedule. So ya, lol 6mo later I finally saw the new Surgeon today. =) Thankfully he did seem like he had read my history some and best of all when he'd suggest something or ask a question he genuinely seemed like he was listening (repeating an EMG --> I brought up would it give a true result?) He agreed and so decided not to order 1. He asked if I do splinting (I do just not all the time, mostly at night. The splint helps but also inhibits my being able to use my hand easily) and he asked a few other questions.
Was REALLY nice having  a Surgeon that actually LISTENED!

So needless surgery is scheduled further out, for Sept which I am ok with. I am glad he agreed to do it and listened to me and although I can't wait to have symptom relief again I also am never in a huge hurry to go back to the OR (Surgery)!
There is always much to be sorted for any surgery - bit of small so time gives us that. My PCP is fantastic at working w/each of my Providers who plays a part in background surgery stuff (blood thinners, solu cortef-stress dosing steroids, etc) so also better when there's time for that to all be sorted more carefully.
                 Neurosurgery - written last wk
Several things have been on my mind lately but I saw Peds Neurosurgeon the other day. It had been something like 4.5mo since I was last there and headaches + other symptoms (vision, so frustrating b/c this makes reading which is something I really enjoy doing) much harder as my vision gets messy. I had talked to my PCP (via MyChart, I love that she rarely makes me come in) about the various issues going on lately and she to thought b/c of past similar issues that where related to the shunts each time that this time is also likely shunt related.
Neurosurgery Appt? It doesn't surprise me I guess but I won't lie it is extremely discouraging and hard to swallow that I don't have a Neurosurgeon who believes me or will help. When even other Providers see it's likely shunt related?
Needless was a pretty heated Appt and not for the 1st time I walked away extremely discouraged. I get that my case isn't straight fwd and is complicated but that makes it ok to let a Patients issues con't and symptoms con't? At the very least JUST LISTEN to Patients, all we ask is pretend to listen to us. Don't have an 'answer' before we've even finished a sentence. Don't assume you know when what you say doesn't even remotely match up to the situation. Gets so frustrating!

Long odds, MPS decisions.. Life choices..
Not related to above but have been thinking about the long odds i''ve faced with some of my surgeries (the Open Heart Surgeries especially) and yet despite great uncertainty how I made it out each time much better than my Drs expected and in quicker fashion to. I know it may seem odd to even think about this (is it odd? Do others think about this? Maybe just others in my Rare disease community?) I mean it's actually not something I think about much and really didn't even to much before my OHS's but lately I have been a little.
 All I've gotten out of this thinking though is really that despite risks I'd rather take the risk at times with various surgeries I go through (and there is always risk, with airway and heart especially) and I guess better quality of life after. I absolutely get each of us makes different decisions and there is no right or wrong but I am so grateful for a Team who has supported me and helped me through each of my (many) surgeries. And been honest about the incredible risk (especially the 3 OHS, the risk that death was a real possibility, that they may not get me off the table and especially that the recovery would likely be long).
I think honestly each of those times albeit maybe it was just my incredible stubbornness w/a large (incredibly large?) dose of  'it's my job to prove my Drs wrong, to prove MPS wrong) and I had things I still wanted to do so I took the leap. I think about this I think lately b/c friends of mine are going through a decision none of us with MPS (or any chronic, life limiting disorder) should ever have to make and it's made me think a lot about this life we live.

Are there (many I'm guessing) times I feel frustrated and unsure and question my care? Sure, I'm very sure there is. In fact there has been episodes of that this wk, especially about the shunt stuff but honestly I just second guess myself to much (way to much, I make a art of it and wish I trusted myself more!).

Rheumatology Appt - new Specialist
I am skipping around quite a bit on issues and subjects and things so I apologize basically just whatevers on my mind or been going on and finishing what I'd started last wk. So last but I guess not least I see Rheumatology tmrw, also a new Specialists (I saw one years ago, shortly after my MPS diagnosis). This a Specialist my Primary Dr knows or talked to on my behalf when I talked to my (Humira) Study dr about possibly using the drug long term after the study. I talked to my Primary dr., and she in her kind of awesome nature and in quick order after I'd talked to her (also over MyChart) reached out to one of her colleagues to see what he thought about possibly prescribing Humira for my case.
      That Dr. per my PCP concern would be Humira can cause Congestive Heart Failure which is an issue I/my Heart Team have dealt with but it's also something that resolved after my 3 OHS/valve replacements and we monitor heart function every 3-6mo with Echo and other testing + meds I take seem to keep heart muscle function in a reasonably good place. Hopefully the Appt goes well, honestly the biggest thing the Humira has helped and even if it where the only thing it helped is the neurogenic bladder irritation (waking up ALOT at night to pee) and honestly I just realized it the other day but even with the low back discomfort and R leg is irritated (I have a weird limp at times) I don't actually have as much of the radiating pain I normally do. That IS awesome! Yay to the Humira!

I'll update about that Appt in the next post. Thanks for stopping by,

                                            Love my SS Kids         

Erica
A last thought:
Sunday School (I take pics each wk, as most who know me know I love pics but these I give to my kids so they (hopefully) remember their time in my class w/good memories.
Hard to believe but my (I believe it is) 5th year teaching Sunday School wraps up this coming Sunday! Hard to believe another year will be over. I love the kids I teach and truly enjoy Sundays (even though honestly class being that early I rarely feel super great) but these kids are well they are just a joy to teach. I'll work over the summer to get things coordinated for next fall and soon enough a new year will start. Summer always goes fast!
                                         

          

Saturday, April 21, 2018

Rheumatology, Los Angeles-Humira Study visit, Cardiology (INR)

Hopefully just a quick update.
                                        
       Humira Study - Rheumatology, long term thinking..
My Study dr for the Humira study called last week as she usually does once a month. We where talking about this study, how it is going and what comes after the study wraps up in a few months (the study was originally slated to last 52 wks but was recently shortened to roughtly 24wks (I can't remember the exact amount of wks it is now it may be a bit more but somewhere in that 24 wk range).
Anyways so I had asked Dr.Polgreen if I where able to get one of my drs to prescribe the drug either before the study ended or after could we still do the testing that she would have done in the original year long study? She actually seemed really excited by this and talked quite a bit about how this might be possible.
I messaged my Primary dr that same night to see what her thoughts where and she (Dr.Simpson) messaged me back the next day that she reached out to 1 of her colleagues, a Rheumatologist about my case to get his opinion.
This Dr raised a few potential concerns like insurance often raised a stink (Dr.Polgreen did give suggestions how to better go about getting insur., to cover the med with my diagnosis and the arthritis like joint issues MPS I causes) and as well that Humira has a known risk potential for causing congestive heart failure - an issue I/my Team have dealt with/managed before my 3 Open Heart Surgeries but he was willing to see me. That Appt is set for a few weeks from now. 
I love that my PCP is so willing to help and she's kind of amazing how fast she goes about tracking information down or talking to colleagues of hers to figure out how best to deal with an issue!
                        Cardiology - INR, Home test machine!?
INR, Up, down, up, down, will stabilize then falls again so my Cardiology Nurse when she emailed me last week with another below range level (for about the 90th time after it had stabilized for about the 90th time) suggested we try getting a home INR testing machine.

Apparently they don't always recommend these for their Pts but b/c mine is so unstable and my risk is pretty high for blood clots and I live a fair distance for either place I can test at (either my Primary drs sites in Madison, an hour drive or Cardiology's Hospital in Milw at CHW also an hour) + every time I travel and then have to check INR I have to figure out where to get it checked (have 1 of my Providers at wherever I am traveling order the lab) having a home tester would offer a lot more flexibility.

I'll still mainly test INR at my Infusion on Tues's since I am there anyways and any time I am at a drs appt anyways but to have this home tester when we need to test in-between and when I am on Lovenox will offer much more flexibility. Will kind of be the best of both (lab testing and home testing)!
                         Neurosurgery - Shunts/Headaches
Otherwise (and I seriously feel like I write this EVERY SINGLE TIME) the headaches and related symptoms have con't I just honestly can't get myself to call and reschedule the Neurosurgery Appt. I am so (I guess) burned out on that whole issue and feeling like I am not even listened to anyways when I talk to my Neurosurgeon yet I feel really, really yuck from a pressure standpt.  
  It's obvious atleast 1 shunt is working as I feel ok, I just don't feel great. I feel tired All. The. Freaking. Time. and bladder, which has been so good on the Humira has been sooooooo bad, I literally feel like it's so irritated but not in a infection kind of way.
                          Humira Study - travel to L.A
I travel to Los Angeles this week for the Humira study this wk so will ask them about this, why they think it might have helped so much and why it might seem so bad now. Is weird.

Anyways will try to update maybe after I get back from the study visit (I leave Weds get back Fri, nice and exhausting).
Thanks for stopping by,

Erica