Friday, June 16, 2017

Team work.. Team effort? Wishing it where a little faster..

Mmmmm what to even say sometimes? This MPS stuff can be and often is so very frustrating!?! I know it's an on-going, on and off issue we deal with, with these shunts but I do not understand how the symptoms I have been and am dealing with are just ok to deal with. SOOOOO Frustrating!!!!
Neurosurgery, LP Shunt, Extreme irritation.. -
Because frankly I was at  a complete loss what else to do and my Primary dr. thought maybe we needed to get the opinion of another Neurosurgeon so I reached out to a few docs in my MPS Community.
It amazes me (but I am always very grateful) every 1 of the few drs I reached out to emailed me back and was willing to give their thoughts. The Peds Neurosurgeon at UofMn (who is friends with my Nrsgn, unsure being completely honest if that is a good thing or will just cloud the picture) agreed to give us his opinion and will see him when there in Aug. Given symptoms are seeming to get worse still again, vision being affected now to (and I've already had my glasses script changed 2x in the past yr so this stinks actually! Its an issue that several friends of mine or their kids also deal with, when they have shunt issues their glasses scripts change). Super frustrating as I LOVE to read and this makes it more difficult and 2. no point in getting vision checked/script probably changed till after shunts where (God willing =( ) fixed at some point. =/ I've avoided calling but will have to do so next wk I guess. SO DAMN FRUSTRATING!!!!!
-Dr.Iskandar did email me back earlier this wk re the other drs emails and says he's not opposed to exploring the Lumbar space (space where the LP Shunt formerly sat) at some point, but wants to get these other drs thoughts 1st. His concern being scans show the lumbar area where I've never had problems with pain is more scarred than periods when Dr.Bragg and I dealt with the LP Shunt (of the 2 shunts the LP Shunt was the 1 her and I had very few problems with other than the period where we (like now) had moved the catheter to sit in thoracic space as it does now. Again SO FRUSTRATING!!!
Then like now I experienced the very same radiating irritation, pain and discomfort in spine and radiating pain down my R leg (I can't remember for sure but I think at that time it was affecting L leg, likely due to where the catheter sits positioned closest to (which nerves I guess?). I cannot recall for certain but I think we ended up moving that shunt due to a shunt infection) and though it surprised her after the irritation I experienced then completely resolved when that shunt was removed and did not recur when we replaced it in lumbar (low back) area (from thoracic, mid-spine) as it is now.
Actually thinking about it now as I type this I can remember asking the Infectious Disease doc (I've worked with the same 1 or 2 for each of the infections I've dealt with w/the shunts) if he thought the irritation where caused atleast in part by the formerly unrealized  infection and he had thought it did affect it. This said we do know CSF (Spinal fluif) is clear, based off somewhat recent cultures when the shunts where tapped.
I guess all I can do is keep pushing and frankly (b/c that's what it feels like I'm doing which STINKS) complaining to try and get this resolved. =/

Humira, Dr.Polgreen (inflammation, MPS I Study):
Re Dr,Polgreen's study for the anti-inflammatory injection drug, I did the consent and initial phone interview earlier in the week.. Initially she has funding for 4 patients if I remember right (4 MPS I Patients) and once she is able to locate/secure the rest of the funding the Humira study will include 15pts total ages 5 and up. My Team is okay with my doing this study so as long as I meet other criteria once I go out for the actual  study enrollment (late July/August she's thinking) then will be 52wk study and if actual drug then that starts right away other ways is placebo injection every 2wks for 15wks if I remember right followed by actual (Humira) drug for the remaining weeks.

Genetics (Dr.Bodamer) - Boston
Having saw my Genetics dr earlier this wk when in Boston we talked some about the drug/study he is working on (will not replace Aldurazyme but be a complimentary/add on therapy, with the thought if it works as it has in animal studies it will help increase the enzyme my body does not make naturally and should cross the Blood Brain Barrier which is a significant issue for me). We also talked about the Whole Exome testing I'd done a little over a yr ago (b/c it was done as part of a study the results take a-llooottttt longer to get back). Even this, b/c of being done as part of a study we (my Team) likely won't see all results and if there is something that gives clues or possible additional answers to my issues Dr.Bodamer will pass those along to my Team.
 He just affirmed again his suspicion b/c of my typical yet very atypical MPS issues he suspects (as has my Cardiologist) an separate connective tissue disorder though he hasn't ever said if there is a specific 1 he/they suspect just that there are some of these CTDs (Connective tissue disorders) that have treatments and if that where the case he feel it could provide a good benefit to my situation. In this case 1 does not wish for another diagnosis and yet if it where something fairly easy and had a treatment or way to manage it that made my overall situation easier to manage then it perhaps would not be a bad thing. Who knows, it may very well be the testing won't show anything, only time can tell! =)


I just have to say I love Boston though felt pretty crappy so other than dinner with my Case Manager from Genzyme and as well dinner with my runner from last Fall (Kai, he ran the Connecticut, Hartford Marathon for the Running 4 Rare Team on my behalf  even though I was not able to be there) I didn't do a lot this trip.    It was nice meeting Kai as that was the trip I'd have loved to make (I've never been to CT) and was duelly, really disappointed when I missed going to AZ! Was really nice meeting him and learning a little about him and what he does at Genzyme!

Heart / PVCs
Heart wise, we've been dealing with PVCs (which in and of themselves aren't dangerous) for months now, though they didn't actually start till a few months after the 2nd ablation done in Jan. Anyways we've been using Verapamil  to try and control the symptoms these cause with some but not a lot of success and when we'd tried Beta Blockers the side effects from those as has been the experience in the past was to significant. I'm of the belief if I am helping 1 symptom but feel far worse on another hand have I really gained anything?  I don't really think so and so we had stopped that med. 
My Heart Rhythm Team is suggesting 2 different meds (options), though 1 seems less bad then the other. Amiodarone can have it's own side effects but then some never experience any so i'll hope that is my case. The 2nd med, Flexainide apparently Pts. have to be admitted in-pt to start it initially as it can apparently cause other problems with heart rhythm. Lovely, totally lovely, hey? Unsure yet what to do but have to try something and not real keen about going in-pt so we'll see I guess but probably the Amiodarone. Yuck, just yuck what we as Pts have to put in our bodies!

 Pulmonary / Audiology -
I emailed my Pulmonary (Lung) dr. re the testing typically she orders (sometimes Cardiology does) and she is setting up that and an Appt. She is the dr. along with my Cardiologist who 1st suspected the MPS and though I don't see her often is 1 I really like and respect. Her clinic is based out of FMLH (where I used to infuse up till a month or so ago) .
Audiology is set for next Fri, I'd rescheduled this as I agreed to teach VBS (which I am still working to figure out lesson plans and best way to present/teach given I/my class won't be in an actual classrm)! Anyways she (Hearing dr.) was ordering the new hearing aids (red, oh so red they will be =) ) and will start the process to get those set right.


Insurance Change
And last my Insur. changes July 1st so my Case Manager from Dean (current primary insurer) is coming to my Infusion clinic Tues to meet. I can't say enough about her and how easy in many ways she's made working with an HMO seem and how many endless questions she's answered!  I am going to miss being able to pick up the phone or type out an email to her (Marge) and when things my Genzyme Case Manager and I sorting her and I being able to call/email Marge! I can do most everything on my own but really when you don't have to and is easier to have someone's help, who has inside knowledge, why not! I am hoping at the new Insur., i'll be able to have someone of Marge's same personality, caring and incredible knowledge!

All for now, please say a prayer if you wouldn't mind we could figure this shunt stuff out sooner than later... Much sooner would be great..

Erica

Friday, June 9, 2017

Same ole' same ole' same? Nothing new w/shunts. other stuff moving along


Peds Neurosurgery  -

It's been  a busy few wks and yet a not all that productive (on one hand) few wks. Between still trying to get my Nrsgn to reconsider the LP (Lumbar, low back) Shunt and the incessant but intermittent  irritation that's been causing since last Jan (you know time... great how it's worked so well to make this feel even an ounce better (note sarcasm, I am not being serious) ) though I've come to the conclusion and my Primary dr. from having talked to her about this several times seems to feel pretty similar.  She feels our best bet is to get a 2nd opinion elsewhere though our issue is we don't exactly have a wide (or even small) pile to pick from re Neurosurgeons who deal with complex cases. So frustrating!!!
    I've reached out to 1 Nrsgn in my MPS Community (though I know he's a good Nrsgn I'm not very hopeful he'll have any suggestions, from what I know from other MPS Parents he's pretty conservative to. =/
We need drs in our MPS Community who aren't afraid to think outside their typical and yet Neurosurgery wise there just aren't any.  - I keep in touch with Dr.Bragg (former Peds Nrsgn till she moved last yr) and I think she's tried to help repeatedly from afar (by talking to my Nrsgn now re her and I had this exact experience and what finally helped it) but doesn't seem much luck there either. Stinks being perfectly honest going from someone like her who was willing to try even if we didn't always get perfect but she trieeedd.  As a complex Patient that to us Pts means a lot when our drs just try!

1 of the docs in my MPS Community is going to try to help so we'll see. I appreciate his help atleast! I can't even say how much I wish we could figure this LP Shunt out and move it! I regret all the freaking time ever having agreed to the position of how the shunt and valve/reservoir are.
                        
                              MPS I - Humira, Dr.Polgreen (Study)
On a separate note, I'd been talking to this dr for some time, helping reach out to families in my MPS I Community to let families know Dr.Polgreens study would soon be recruiting again, the details, etc. I heard from Dr.Polgreen the other day again and she had just received the new IRB approval (IRB has to do with a study site approving the logistics of a study basically)  plus is now enrolling individuals. Her and I are talking tmrw (Fri) re the study, details, etc. The downfall is it would require 3-4 trips to CA (Los Angeles) in a 52wk period but the rest of the study whether 1 is placebo or 1 is actual drug (Humira) would be done from home.
  I can't say on this for sure, although I have read the study protocol, requirements, etc but I believe those who start on actual Humira (vs placebo) will do injections every other wk. Then those who are randomized to placebo would receive the actual drug I want to say 1/2 way through the study.
      It looks like the clinicaltrials.gov study site hasn't been updated yet but for any MPS I Pts or Families interested I can send you more info if you like or contact Dr.Polgreen.
            
    https://clinicaltrials.gov/ct2/show/NCT03153319?term=Humira%2C+MPS+I&rank=1

  The 1st initial phase (2 Patient I believe, this is the one I'd been asked if I was interested but at the time we where dealing with Heart surgery or Ablation yet) article is below.
                    https://www.ncbi.nlm.nih.gov/pubmed/28119823


Audiology
          I heard from my Audiologist (Hearing dr)  re the Hearing aids and coverage was as we suspected.                        
  We knew  the 1 hearing aid bc of the hearing test changes a month or so ago would be covered by my primary insurance but that the 2nd would fall just outside their parameters. After my Audiologist turned in/submitting the various paperwork we now have approval for the 1 side (which was the more urgent to get through given my insur. changes July 1 and my new primary insur. if I am accepted to stay under my Dad's new policy does not cover hearing aids. Re the 2nd Hearing Aid she was turning in the forms to my secondary insur. for coverage and hoped to have that by the time I see her for the 1st side (1.5wks from now, other dates she had didn't work for my schedule).

I did actually have hearing aid(s) some yrs ago but then hearing had improved (yay!) for a few yrs (which was awesome!) till now. My hearing issues as it is fall in what's called SSNRI (Sensorineural hearing loss, hearing at the higher levels)  so in quiet situations I can hear pretty fine.
                          http://www.resound.com/en-US/hearing-aids
              
         
                                               

Unity, Insurance  switch (from Dean Health Plan)
Re the new Insurance change, I've been working with Unity some and the paperwork I need to complete has been mailed late last wk, just waiting for it to get here! Thankfully I have secondary insur so if it came down to it my Genzyme Case Manager (they help with Insur aspects of the enzyme replacement IV Infusion drug I receive every wk given Aldurazyme is so expensive and given weekly for a Patients lifetime).
Anyways so I've been getting a little info from my Case Manager at Dean re what Amy (Genzyme CM) and I should or can do re the insur change and my current infusion site.  I am REALLLYYY going to miss having the CM I do! I don't care what anyone says, having a Case Manager when you get a good one makes ALOT of things a bit easier! Especially given my primary insur. has been an HMO the past 3 or 4 or so yrs my CM has worked wonders with helping get many of my out of network Providers covered as 'out of network exceptions' so they where covered.

My CM (Marge) and I are going to try to meet in a couple wks at my Infusion site which is relatively closer to where the Dean Health Plan is (she'll come down to my infusion site)  which will be kind of cool
. It's always a bit funny how much time as  a Patient I spend talking to some people and yet if I where to pass them on the street, by site I'd have no idea who they where! =)


 Picture from earlier in the week. My Infusion site is now in the same bldng as my Primary dr (Internal Med, actually her office ironically is in the same clinic space where I used to see my Peds Cardiologist yrs ago - I seriously LOL'd the 1st time I went there to meet her/see her and realized this!) =)
    Anyways she has stopped by infusion a few times and this time I'd asked if we could take a pic (I am a total picture person, I like having pictures of all the experiences and people I meet or work with when possible). =)