Wednesday, August 9, 2017

Another opinion; Peds Neurosurgeon UofMn. Nat'l MPS Society Conf.


Last weeks Appt with the Pediatric (Peds) Neurosurgeon at UofMn seemed to go ok. He’d clearly done some research through my med records, looked at imaging they had requested and remembered the various conversations we’d had over the past 8 or so yrs. As a complex Pt these are always nice to hear from new drs and saves a fair bit of trying to explain!

He made many of the same observations Dr.Bragg has over the years about my skull bone being overly thickened (he commented how noticeable it was from the imaging he had looked at), how he also feels that likely has played in to our not being able to keep the shunts working well for long periods and how my brain wouldn’t have the capacity to adjust for even mild pressure changes be it weather, elevators, anything that people with normal skull compliance their bodies can automatically  adapt to.
He brought up and  commented about  cranial vault expansion (but its not technically that procedure, in my case he seems to think like Dr.Bragg has that IF it would work (he said he wasn’t sure it would be the best approach for my case and is a pretty big surgery) this could create more room in my head for the spinal fluid (CSF) to circulate and thus help the shunts work better by creating more room.
He did make the comment that my ventricles are not slit like (not slit ventricle syndrome) though I am not 100% sure what imaging he was looking at (older imaging I assume) and would be curious actually what my ventricles look like now. They do not routintely get very big but when in shunt failure my vents do enlarge some these days.

I had known this before the Appt but he is going to be out of the ofc for about 1.5wks but said he wants to set up either a 3 way call or Video Conference with Drs.Bragg and Iskandar to discuss my case and hopefully they can come up with a treatment plan. I mean this in the sincerest way, but I pray to God, sincerely they are able. I have had about enough of the headaches (pressure) but as much as that even more sick of the low-to-mid back pain, it  literally feels like a searing pain. I can only pray.
 It did seem from his comments that he is interested in staying a part of my Team or if needed potentially even doing any surgery but I am not completely sure on this. He seemed very passionate about trying to help figure out a longer term plan.
As my Mom said when I’d talked to her the other day after I was back from Mn, in as many words ‘It would be nice if someobody would do something to give you some relief while they figure out a longer term plan’. I couldn’t have agreed with her more!

Re the Lumbar-to-Thoracic (LP) Shunt he made the observation that he also like Dr.Bragg and like my 1st Neurosurgeon with Lumbar Shunts places the valve and reservoir (valve controls how much CSF gets through, Reservoir is used much like my Port-a-Cath for my weekly infusion to draw off CSF (Spinal fluid) when needed and/or a direct way to test how the shunt is functioning). Anyways he commented he never places these on low back as mine sits now and positions them along the shunt but to sit on a Pts side. – Yet another Nrsgn who does not do as mine currently sits. He seemed to feel the current placement could have some to do with my significant low back pain.
Now if only someone would do something about it!?!?!? I can only hope and am certainly praying..

 I actually get that I likely look very good to most people and most can't/don't know me well enough to see the subtle ways when I don't feel good that I am different but those who know me best know and can see it. Oh how I just wish to feel better! For the shunts to work better again!!! I reallllyyyy miss Dr.Bragg, atleast she was always thinking and trying to figure something out to help. I pray Dr.Guillaume will be able to set up the 3 way call with Dr.Bragg and Dr.Iskandar and something comes of it and SOON!!!!! 

                                                            Peds Neurosurgeon (Dr.Guillaume)

                                                Friends and Fun - National MPS Society Conf.


Re the Conf. I think I can say this was the closest Conf I've been to yet that's had at least a little focus on Adult issues though mostly/mainly young adult issues/transitioning. STILL it's slow progress!
 The Adult Committee with the MPS Society has been looking for new members and many Pharma/BoiTech and Families asked me at the Conf why I am not on it/why I wasn't talking on the Adult panel so I guess i'll try to get involved. I definitely have enough other things going on  but I do think I can help and that I have a good voice (experience) as an somewhat older adult with these disorders so I did send in an email about possibly joining this and adding another older adult voice (kinda funny b/c really I'm not actually that old but in our MPS/ML world 34 is kinda old-older). =)

I think to me the best part of the Conf though some people don't apparently like that they are there is talking to and meeting some of the new/newer Pharma/Biotech folks and getting to learn about the various new research coming down the pipeline. There are several studies either going on or starting (Armagen, with Aldurazyme re-formulated to cross the BBB, Sangamo just recently started a study looking at a gene editing (sort of like gene therapy) study. RegeneX Bio is another newer company I talked to a bit and who wants to do a Conf call next wk (they and I meant to meet up to talk more indepth at the Conf but ran out of time)  to get my opinion or thoughts I guess on their study and to share some about what they are working on.
The Sangamo and Armagen folks also talked to me and shared info about their studies. Dr.Whitley with Sangamo had a copy of the Sangamo gene editing consent form he had given to me with his # on (he's been trying to recruit me to this for awhile, I had given him quite a bit of personal data to use when he presented before the FDA for study approval).
 I unfortunately/fortunately (however you want to look at it) am already signed and consented for Dr.Polgreen's Humira (anti-inflammatory) study.

Perhaps at some point i'll share a overview of what each of the studies are about. Matthias, the CEO from Armagen (whom I've met before, VERY nice guy!) also stopped for a bit as he was leaving the Conf to give me his card and chat a bit. He emailed me again last night and I have to say seems like a genuinely caring type of person.

Honestly I feel like the HUGE take away from this Conf. is that SOOOO MANY Biotech, Pharma and Researchers are working on my MPS I  and though it seems as though everything takes forever and a day there is more HOPE!!!! Potential treatments that may help some of my brain (especially) and heart and spine issues for which Aldurazyme is currently not. Atleast I have a treatment but it's kind of exciting stuff!
Almost above all I pray some of the other disorders that do not yet have treatment will be able to get treatments sooner than later. I am grateful I atleast I have something even if it is imperfect.

I feel like there is so much to say about this Conf and yet I've written a reealllyyy long post already. So instead i'll try to update again when I know anything re the Neurosrugery  stuff. If you believe in prayer please pray we can sort something out!

Dr.Polgreen, Humira Study
Lastly I just heard from Dr.Polgreen's study coord. this morning, they are needing to do 2 separate initial visits to CA for the study (we where trying to avoid this) which kind of does bite but this will take place Aug. 31 and Sept 13th if I remember the dates right, right off hand. That is kinda going to stink (I don't typically mind flying just that with the headaches/pressure it's harder and all around flying is exhausting!). Is what it is I guess though to try and get something to potentially help some of the areas. 

Will try yo update soon. Thanks for stopping by,


Monday, July 31, 2017

Trying to hold on to hope..?... Peds Neurosurgery (UofMn) ), MPS Conf. -

I haven't written in a while for now reason other than I just haven't known what to write about. No I still don't feel great but who wants to read about my constantly whining about not feeling great? No one I'm sure thus I don't write and honestly there hasn't really been that much other than status quo stuff going on.

Shunt / Neurosurgery
Headaches (really it's more  pressure than it is actually a headache though I call it a headache. I get what I refer to a 'mini migraines' when dealing with the pressure and those are a headache - it's odd I guess to explain. Best I can say I suppose is if you had on a really tight, uncomfortable  headband that went all around your head and that begins to affect your vision. That is what my headaches (pressure) are a lot like.  Not very comfortable and needless the only type of headbands I wear are soft cotton ones or I have several that are plastic but 1/2 of the band is stretchy material (bc I hate having hair in my face).

UofMn - National MPS Society Conf.
Weds I head to Mn for the National MPS Society Conf which runs Thurs-Sat but 1st am seeing the Peds Neurosurgeon at UofMn Children's that I've know quite a few yrs though have never met (he was the Nrsgn who helped Dr.Dickson when I was in her Intrathecal Study yrs ago and she/Team suspected a shunt issue then already. She'd talked to Dr.Guillaume (who was then in Oregon) and he in turn referred me to who I see now (and that whole amazing fiasco of an appt. yrs. ago).
Anyways so Dr.Guillaume came to UofMn a few yrs ago and over the past few yrs has helped Dr.Bragg and I with questions we had re my shunt issues (and she would reach out to Nrsgn she trained under).  Dr.Iskandar my Nrsgn since Dr.Bragg moved last yr had asked me to get an opinion from someone in my MPS Community so I emailed Dr.Guillaume (who is good friends with Dr.Iskandar, I can't decide if that's a good thing or not given Dr.Islkandar won't seem to listen to what Dr.Bragg's seemed to try to tell him? I'm not sure. I'm honestly not sure how I feel about this appt other than frankly nervous, some scared (bc what the hell happens if he doesn't know/have a suggestion or something else? Shunt taps show fairly clearly there's a shunt issue and the recent Chest Xray done for Cardiology shows no fluid in the pleural (lung) space which there should be some I'd think if the shunt where working right? I don't know is all very confusing to me being quite honest.

I just pray Dr.Guillaume can give us a suggestion that Dr.Iskandar would really listen to. That Dr.Islamdar really would go in and look at the lumbar and thoracic (low and mid back) scarring which is apparently pretty severe and figure out a way we could re-position that shunt to give better relief and to calm the incessant radiating low-to-mid back pain. It stinks being really blunt!

We've been adjusting/titrating the (not so new anymore) Heart med dose while keeping all other heart meds the same with very little success for PVCs (skipped beats) and new fluttery rhythm. About 2wks ago the dose was upped to the highest dosing at 3times a day (I totally screwed that 1 up and had only been doing it 2x a day. 3x a day is a PAIN!).
Non-the-less I am tired of calling Dr.Kovach's Nurses reporting 'no real change' as I feel like a pain in the arsh and frankly I just hate continually needing to ask any of my drs. for help. I'm not good at that.
I guess the next alternate med Dr.Kovach recommends, if my Cardiologist (same clinic as Dr.K at CHW) ok's it is Amiodarone. Another awesomely awesome med choice I'm sure (and I don't say that to be negative it literally just has a terrible reputation, even my Team is hesistant about it and leaving that and 1 other as last ditch). Lovely, lovely, lovely.  I'll call sometime this wk, maybe tmrw.

New Infusion Site:
This has been going well - about all there is to say! The new site is well and my Nurse + the back up Nurse I have (if mine is out or not there a day I need to change)and the other Nurses + the Pharmacist are all very nice. Hast been good. =)

Sunday School -
Hard to believe but have been working on this for here and there for a few wks now. I love doing it and honestly I love that it's a constant reminder of all my God does for me and what I can (try) to do for others by sharing God's word! I love that I get to teach kids and witness through my own personal struggles to my SS kids that our God really is with us through thick and through thin.
I did get a heads start on things with SS, earlier than probably needed (so I could work on various things like rdering our teaching materials, sorting the materials, getting ahold of Teachers, etc  I needed as I had time and work with our new Pastor on whatever he needed me to do) but still hard to believe roughly only a month till Sunday School starts again! I always look fwd to this though (not so much to Fall and cooler weather though I just love seeing my kids). Some yet to do on my part but the part that I stressed the most (organizing Teachers for each grade) should be worked out! That was a HUGE relief!

Humira study:
Not much to update here other than I signed and sent back the consent forms, sent in the records needed (minus 1 for joint range of motion, which I am seeing my PT next wk to get the measurements) and scheduled to go out for the initial study start the end of Aug. We initially where going to do Sept but Dr.Polgreen and Team asked if I'd be ok coming out the end of Aug which should be ok. At this study they'll do the rest of the study enrollment then draw whether i'll start on placebo or humira (though I and Study team will all be blinded to which I am and no matter i'll have to do an self injection every 2wks).
At wk 16 then Pts on placebo switch to Humira and Pts on Humira switch to weekly injections and conts to wk 52 if I remember right.
In total there are 3 or 4 visits to CA (Harbor UCLA, Los Angeles) for the study.

Will try to update next wk re the Neurosurgery Appt. I do then see my local Nrsgn (Dr.Iskandar) re the Appt this wk in a couple wks to see if we can come up with a plan. Can't even tell you how much I am praying we could and trying to be optimistic. It's really hard to not be. =/  Say a prayer. I so need this to go well but am nervous (and I don't get nervous! I wasn't even nervous for the 3 Open Heart Surgeries which is CRAZY!!!!!)

Thanks for stopping by,