New diagnosis; few more surgeries; New drug update (what's all going on)

Oy, lol, it has been a long, long while since i've updated here and of the things that have changed. Things i'd sure never thought i'd be saying in conjunction with myself!

I updated this some I believe shortly after diagnosis but back in Oct after seeing my PCP and being admitted to St.Mary's-Madison through the ER numerous tests and procedures where ordered and done - CT Scan x2, Bronchoscopy-lung biopsy, Xrays, a Colonoscopy for which the unfortunate results showed colorectal cancer (explains my weight loss over the past year or so and abdominal issues that had gotten worse over time.
Due to this finding a bronchoscopy was then done to biopsy the lung nodules which also in turn are related to the 1st cancer. Crazy. Just seems absolutely crazy! So a Oncologist was assigned to my case as well as my General Surgeon from a few months ago who happened to see my name and picked my case back up.
 She ended up doing a bowel diversion surgery to create a colostomy (so weird,the placement at the front center of my stomach is super annoying as it's virtually impossible to hide it's position under clothes. I've learned to take care of this every day and now manage it on my own minus seems like to frequent questions and visits to the Ostomy Nurses and Dr.Henkel's help (the other week she after finishing a surgery at St.Mary's stopped at the out-patient Fish Harchery clinic I infuse at and together w/my Ostomy Nurse helped re-evaluate my ostomy site and finding a (attempt at) better ostomy covering. Very grateful for her, for that!
I've f/up with my Oncologist a few times after getting released from St.Mary's and UW (due to this colostomy my General Surgeon had reached out to my Peds Neurosurgeon and they working together (albeit separate med centers) made the plan for what to do with my VPL Shunt + Dr.Iskandar moved this about  a week after the cancer was diagnosed and then I was re-admitted to St.Mary's for my General Surgeon to do her thing and create the colostomy).

Due to my cancer being advaned and stage 4 already + my heart issues actual treatment for the cancer will be more of a palliative approach and we've settled on a oral cancer drug (which is shown efficacy for my cancer while also being a  gentler chemo option. Another Oncologist who saw me in the hospital when she was on call also recommended we do radiation to help shrink the cancer mass in my bowel. I am unsure if this will be used to target the lung masses as well which although my Lung dr. and I figured where likely  a slow growing infection or something else turned out to be the cancer which has spread.
It's a slow growing cancer so my team seems to feel with the cancer treatment we may be able to get about 2yrs. Admittedly this was a tad shocking to me but guess it is what it is and who knows maybe some advancement will occur in that 2yrs. I met with my Oncologist again later this wk after a PET Scan to see if the cancer has spread anywhere else.

New drug.. Where we are at..
So all paperwork for this drug has been sent off to the FDA for the compassionate access process and my PCP heard back last week that I am approved to get the alternate ERT drug and plan is to start in Febr. once my dr. comes back from maternity leave (Is it weird I really can't wait for her to be back? We have kept in touch some via email at her request when she was going out so she is mostly up-to-date on whats going on. . In the meantime before she went out out my Primary dr. has been working with the infusion site and Pharmacy team to come up with the actual infusion protocol for my case (total volume to be given, ramp up rates, etc. We know already they plan to stay at 6hr total infusion time and keep the new drug in 1/2 the total fluid volume that the few other people with my disorder on this drug get are infused in (usually 250ml I believe, my case they will decrease to the same 150ml volume each infusion that I get with my current Aldurazyme). I am looking fwd to starting it and so far my new cancer diagnosis hasn't stopped my still being able to be part of the study/use the drug. It is something to look fwd to in amongst this new crap diagnosis!
                                         
                                      My Infusion Nurses (they came over to St.Mary's to visit)

                                                               My General Surgeon

           
                                                           
VPL Shunt revision and then another
It has been so long since i've updated I never even updated how the VPL Shunt revision a few months ago  went.  1 VPL Shunt revision turned in to 2 but I actually felt soooo good after this 2nd surgery! Sucks now that both shunts drain to 1 pleural space I do not feel anywhere near as good as I did after this surgery above.

Otherwise life has just been busy between usual/my normal medical stuff and then adding in many more appts for the cancer diagnosis/treatment after having spent 2.5wks in St.Mary's at the diagnosis then a couple days at UW and another 6 days at St.Mary's after the colostomy placement. Since then i've had 1 more surgery to revise the colostomy which started as a loop colostomy to then revised to a end colostomy (such a pain, I miss the loop ostomy I 1st had! My Surgeon and the Ostomy-wound nurses including 1 who also works in my infusion clinic have been a godsend, We are still working to figure out the best ostomy cover/bag system and in the mean time I have good days (nights really) and not so great ones where I wake up and the thing is leaking.. Part of the problem right now is there is a wound opening at the stoma and the ostomy drains down so much harder to contain it. Definetly takes a little art (not my forte, lol).
I also ended up startung radation 2 wks ago for the primary cancer mass and finish that Fri., it's helped symptoms some and i'm also finding OTC meds to help digestion with food so that's not to uncomfortable. I am currently down about 30 pds which is ALOT for me (5'5, I used to be about 130ish).
   I am grateful I atleast like the drs. on my team for this new diagnosis and all have worked with my Primary dr and a few other of my drs is sorting the best care plan./management plan. Having both shunts now drain to 1 pleural space has equaled headaches returning sadly which is/was a really big bummer but am glad the  1 shunt won't cause issues in the cancer area if anything more has to be done there besides the colostomy that was placed a few weeks ago.
     I am praying so hard the primary cancer mass can be removed after radiation of perhaps after a few rounds of the oral chemo drug if my Oncologist opts to restart that (2wks on, 1 off. He had talked about they may recommend 2-3 cycles of this before any re-attempt at surgery). Whatever the case i'm hoping radiation will have helped shrink it enough it might be an option (my Surgeon tried once when she coverted the colostomy type).

Sunday School, almost always my very favorite thing of any given week was AWESOME to be back after having been gone several different times. We start class up again next wk and I genuinely look fwd to it.  I absolutely adore these kids.

Is alot but God has a plan and so I pray this new treatments con't to help ease symptoms some and will also say I am really grateful to my General Surgeon for her compassion in managing pain well post op and after I got released. My Pain mngnt dr as well. she has worked with th Hospice dr who picked up my case and once again her compassion is truly amazing.
Overall there is still some up in the air re managing this cancer and so day by day i'll trust God knows what he is doing and is always with me.

Hope everyone had a wonderful Christmas filled with memories, fun and God's blessings,


Thanks for stopping by,
I apologize if this is a bit all over the place. A work in progress getting this written and finished,
May 2020 and the NEW YEAR be a little niceer to each of us! I am grateful atleast for all the support I have, starting with my parents and sister and 1 of my closest friends,
Erica

Inguinal Hernia surgery; Bronchoscopy procedure. Anesthesia, VPL Shunt revision 8/27

Inguinal Hernia surgery
The inguinal  hernia repairs (both sides) the 1st of the month went really well especially initially. Not really all that painful after surgery, I didn't take any additial pain meds once I was home and ice was the name of the game if anything to help. Overall the biggest issue 4 or so weeks later has been swelling and honestly EVERY. LITTLE. THING. I DO I swear sets this swelling off. That I will be honest is uncomfortable (but not really painful, hard to explain but just uncomfortable and limites clothes that are decent fitting wise to not cause this discomfort. It's definelty kinda odd! Bowel issues awesome enough right after surgery where really good, like in a way they haven't been in a long time but has seemed to back track a little as the swelling ebbs and flows.

The mesh that was placed also seems to cause irritation the worse the swelling gets but the swelling doesn't seem to get set off by any particular thing but is helped by either ice or taking a shower/bath (which I could start doing again at 2wks post op. I don't take alot of baths but is nice on occasion). Ibuprofen seemed to help but I can't do that right now b/c of the VPL Shunt surgery on Tues (moved up from Weds) so I might call while at Infusion Monday and see if PCP has any other suggestions. It is odd and I wish could get it all just calm it's stuff down for good! It was aweessommmeeee how good bowel/stomach stuff was right after surgery!

Anesthesia - Hernia Surgery
The Anesthesia team (who my PCP has said if we have other surgeries at Dean she will request that dr/team specifically)  thankfully followed the cortisol instructions my Primary dr and Endocrine set forth (stress dose steroids, to prevent my body from crashing during surgeries or procedures or even when I am sick/fever). They also really seemed to have done their research on my airway and cardiac issues and listened to what my Primary dr (PCP) noted in what she sent over so intubation/airway to went well with fiberoptic airway placement.
They where great about minimizing fluids both in pre-op and in post-op to prevent causing fluid overload and thus irritating the currently underwraps/not really an issue Congestive Heart Failure and they where AWESOME about letting me stay sitting up in the OR (due to my positional headaches and separately the breathing issues if laying down)  right up till they sedated me (through the mask and via IV (via my port, which awesome they used this to! I had went in with it accessed but still never a guarantee (although I am pretty persistent they use the port for those drs that don't want to and can place a peripheral if they really need once I am asleep).

It was just nice overall how smooth it went! I'd for sure use the same General Surgeon and team if ever needed!

Bronchoscopy - FMLH August 8th
This procedure also went really well with a fanstastic anesthesia team and the dr who did the procedure seemed very nice. Honestly the anesthesia people are who I often have more concern with so when they come in and are willing to hear my input and geniunely want to know my opinions I feel very little if any concern how an actual procedure will go. Here to they did the cortisol pre-surgery/procedure with no arguements. They minimized fluids for the cardiac stuff and it all just seemed to go really smooth.
 Results wise because they aren't able to actually biopsy the area in my lungs that these 2 nodules are growing they opted with this bronchoscopy to do a less invasive "flush" which basically means they place a scope down your airway in which they can visualize your airway and lungs and then they (I guess) place some saline in the lung area after which they suction this back up in the hopes they can get some of the nodule tissue (?? mark here, lol I might not have this completely right but I think that's what it was) and they then grow that out in the lab over days and weeks.
 Per my Lung dr the 1 test can take up to 3 wks so her and I will touch base in a couple more wks and go from there whether it shows anything or where do we go from here. It would be nice if there where a simple answers but take it as it comes.

VPL Shunt revision - Tues Aug 27th.
The VPL Shunt revision was moved from Weds (28th) this wk to the 27th so I moved my infusion to Monday. It just realized though as I am typing this the Drug Rep for Genzyme the company that markets my drug was planning to come to town Tues so I just messaged to let her know. Thank heavens for text msg sometimes! I had put her visit on my calendar but then completely spaced about it till now. I feel like I do alllottttttt of this "spacing" these days!!!! Oy! Lets hope the problem does in fact by some chance lie with my VPL Shunt (and not the LP Shunt) and maybe that help this brainlessness of mine!

New Drug - Approval process 
Anyone who is in the rare disease space knows new drugs and research take an exceedingly looonggg ssllloooowwwwwwwwwwwwwww time and drugs in general - rare disease or not very few make it through to actual patient approvals. This said the drug my Primary dr. has been working on for my case (with the BioTech company giving the drug under compassionate use as it's not approved yet) the paperwork she had to fill out was resubmitted to the BioTech company who approved the changes she made and now it is in the hands of my PCP's med center lawyers. Once they approve (I hope, without any other changes needed!) then my Primary dr. can submit it to the FDA. This process (which lol, if you read my blog I feel like i've probably written about before) can take about a month to get approved then.
Once we get FDA approval then the Pharmacist at SSM-Dean who works on my case has already been working with my Primary dr, (they've been discussing how they'll change the total recommended drug volume and run time for my case to be very similar to the Aldurazyme I get now., Other pts apparently go over 3hrs and 450ml volume (I think that was the normal total volume but I may be off a little). They want to keep the new drug at 150ml total and over 6hrs to prevent fluid overload so the Pharmacist will come up with an individual protocol for my case as soon as approval is granted.
 Per my team they don't expect that part will take long as this Pharmacist did the same with my Aldurazyme when I 1st started at SSM-Dean. It's awesome actually my whole team and the drug company have put so much thought in to this all already! The other thing they'll apparently have to do with the new infusion is monitor blood-glucose levels throughout the infusion but that shouldn't be to big a deal (I think just a finger stick similar to when I am on Coumadin and test INR).


Lastly my Church merger over the summer with 1 of the smaller sister Churches and so we called a 3rd "1/4 time" Pastor and also have a Vicar in training coming Sept 1st. The called Pastor is already helping my Church and our new Sister Church (Salem-Lowell) without Sunday School programs which has been awesome actually! Most who know me know i've really missed our old Pastor and the Sunday School mtngs we used to have throughout the year (was just helpful to be able to ask questions and in thinking through new ways to teach lessons).
Our 2 Churches are coordinating SS schedules so both programs will teach the same lesson each wk and then 1 or 2x throughout the year the 2 programs will sing together at each others Churches (St.John's kids will sing w/Salem for the 150th celebration in Oct). Kind of neat!
In-between everything else i've been busy working on beginning of the year stuff for this and SS in general but I tend to love it so I really have no complaints! All my Teachers from last year are coming back so that to is a bonus!
                                                 

We have a awesome God!
I'll try to update soon about Tues's shunt surgery. Please say a prayer if you wouldn't mind. I truly hope this gives answers!!!

Erica

Surgeries, Procedures, Surgeries... but progress

General Surgery - bilateral inguinal (basically groin) hernia surgery w/mesh is in about a week (8/1) at St.Mary's Hospital in Madison. I will admit it makes me a little nervous having no idea who the anesthesia team will be but I can only pray they will have done their research on my case AND will heed my Primary drs notes + past anesthesia notes re airway!
I did see my PCPs pre-op note (I get copies of many of my drs notes to keep in my own records) and she did a really good job emphasizing the airway difficulty issues as well as emphasizing the cardiac-fluid concerns and that the endocrine (cortisol) dosing has to be followed amongst other stuff. I am always grateful she is so thorough.

Pulmonary - Bronchoscopy scheduled (8/8, Froedtert Hospital, where my Lung dr is). This as I think I posted in my last update here is to flush the area where the lung nodules are growing or try to flush the one area where 1 of the nodules is growing as they are not able to be biopsied directly by bronchoscopy and then take that fluid and run labs if I remember right to see if they can figure out what these nodules are caused from. It is not my Lung dr doing the procedure (apparently only some Lung drs doing interventional procedures; who knew!?!) so this to I will pray the dr.and anesthesia drs on my case are capable and careful! My Endocrine dr. has sent over her steroid dosing recommendations for this procedure to my pulmonary team.
                                                          

Peds Neurosurgery Appt  - Halellujah! We have a date folks!! Last wk I was in Mn for the final longitudinal MPS I study tracking memory/cognitive function in us MPS I pts. - I have to preface what I am going to write by saying I semi jokingly said to the person doing my testing (I had had her last yr as well) that they needed to change up their tests as I literally have most of the stuff memorized and soooo borrriing, lol). Well, lol it didn't matter this year that i've done those same tests (literally the same tests) for probably going on 5 yrs if not even longer than that as I apparently did very badly on some of the parts and testing (oops) and what they saw is indicative of changes these drs see in patients with my genetic disorder who either have un-diagnosed hydrocephalus or as is my case have treated hydrocephalus that is not being well managed. 

This needless led to not only the Study dr (head Neuropsych dr., she's very nice and a asset to our MPS I Community) laying out her concerns but she also reached out to the Metabolic Genetics dr (who I know reasonably well, this is the dr I spoke with at NIH a little over a year ago and have known for years through the UofMn though he is not my dr). He in turn called me and we spoke after he had spoken to their Peds Neurosurgery dept (the Neurosurgeon i've seen there a few times has apparently left clinical practice and doing administrative work but the Nrsgn who took over for him is a former Resident at UW so she was familiar with (remembered) my complex case when the Genetics dr talked to her I guess.

I flew home that next day and saw my Primary dr for pre-op a couple days later. She reached out to my Nrsgn at UW expressing her concerns and the UofMn drs concerns amongst all the other concerns and other of my drs who have concerns with these on-going weight and other changes. This in turn I heard from my Nrsgns office and had an appt with him today right after a quick brain MRI.

Honestly I was surprised how well the appt went but he agrees we need to do something and asked did I have an opinion which shunt may not be working right?  Honestly if I had to guess i'd say the LP Shunt but at the same time I honestly have very little idea. So the plan is to schedule surgery which we have; he was wanting to do it already next wk but b/c I have the hernia surgery next Thurs and it is at Dean (St.Mary's) and then I have the lung-bronchoscopy procedure the week after (Froedtert) I asked if we could postpone it a little.
 I actually reallllyyyyy want to feel better but I also know that much anesthesia and steroids so close together not to mention I imagine the hernia surgery recovery may be a little uncomfortable i'd rather just wait atleast a few wks. so we settled for Aug 28th.
This does mean having to get a new pre-op with my Primary dr for that surgery but honestly it is worth it to do that again to have a 2 wk break between the hernia surgery and bronchoscopy (1 week between these 2)  and then 2wks between those 2 things and the shunt surgery revision. Even this all is waayyyyy toooo much but still better than 1 right after another after another! Atleast I have a PCP who is remarkably easy to like so she's not the worst dr to have to see (but like anything if could have would have been better to not have to do this again =)  ).

Re the VPL Shunt surgery Dr.Iskandar said if this wasn't succesful then we'd plan to look at the LP Shunt via surgery but he'd talk to his partners and come up  with a plan how best to approach that shunt and area given the pretty significant difficulties we've had in the past and what to do with the shunt to try to make it function better. If we do have to do this I will ask (beg, lol?) him to please move the valve and reservoir which for the past few years have sat on my low back (a very present bump that sticks out like a sore thumb and super uncomfortable when I drive or when I walk for longer periods) to my side which right now sit on my low back and are sooo freaking uncomfortable  when I drive or sit certain ways. It would be amazing to have those 2 things back on my side where they pretty much never caused any issue!
                                                       

I'll update again when there's something to update including with the heart monitor results. I did see the monitor report on mychart but I don't really know what it means (was very different than past ones but may well be innocent changes).
Thanks for stopping by,

Erica

New Apt., Pulmonary (On-going Lung changes), Mn Study.. Other med stuff..

Move to new Apt.
I finally moved to my new Apt about 2wks ago. - I like (surprisingly) being back in BD and nice to close to multiple (better) grocery stores + a hop/skip (less, lol) to the hwy to get to Madison and really only about 15more mins to get to Milw. so that's still not bad either. My cats have finally settled in and I have new critters here to (squirrels and birds =) ). My nephew loves all the kids at this Apt complex (is much bigger but also much quieter here) and my backyard is pretty big so Z has lots of area to run around and explore and bird hunt (+ the other kids of which he already made friends with a few last wknd).
Albeit it's only been about 2 wks but when I 1st moved to this new Apt and still on occasion I think about all I went through while living in Juneau (in BD now). All the surgeries (3 Open Heart surgeries, 40-some shunt/spine surgeries, 3 hand surgeries, and probably something I am forgetting). Several of my nieces and nephews where born while I lived in Juneau, I started teaching Sunday School at St.John's there (7 yrs I think this yr!?!!?) and now I coordinate or run the SS program (I have plenty of people I can turn to for back up on this and my SS Teachers are great if I ask them to help with something or something we need to do).
My Grey was just a kitten - a baby teeny, tiny kitten when I lived there and her Mom (my Ally cat, I had to have her put to sleep last yr =/ ) was a tiny, stray i'd just brought in right before I moved to that Apt. - I found Dr.Bragg and my current PCP amongst several others on my current time while living there.
The many trips to Milw for ERT (Infusion) and then later to Madison for my weekly infusion from that Apt. - The many times my Dad (or my brother) would have to come and help with my cars (I had atleast 3 while I lived in Juneau - the 02' Saturn, The Grand Am', and 01' Alero, then my last 11' Aveo  before buying my current 16' Chevy Cruz. A car I swore i'd never spend that much $$ on! Oy, but I like it and don't generally mind the payments to much. I have it almost 1/2 paid off 6mo in so that's a bonus (so grateful for the part time work I have. that to I started 7 yrs ago while living in Juneau., in fact I was in-patient when the Foundation contacted me about possibly working for them after my previous work (APF) had just recently shut down. - So many memories!
It kind of makes me wonder what all will transpire while at this Apt. - More good memories and changes I hope amongst all the medical stuff and hopefully no losses to my medical team! 

Pulmonary, I had the 3mo CT Scan follow up (Lung dr, Team monitoring the nodules that have grown the past year or so on CT Scans and 3mo ago the Radiologist reading the report recommended these be repeated again at a 3mo interval to monitor any changes).
Anyways so my Pulmonary (Lung) dr., messaged me back a few days after the scans and the 2 nodules had grown again albeit they are still very small. Because of the area they area growing in (L upper lung lobe and R infrahilar nodule) - Honestly I have pretty much no idea what it means other than they are still small but the changes where 7mm 3mo ago to 8mm now and 5mm 10/15/18.  The R nodule  measured 14mm (axial series) and 11mm up to 18mm (craniocaudal dimension) 3mo ago
previously 13mm. Are you confused yet? Lol, me to! (laughing b/c for real). There are other nodules apparently per the scan but unchanged so those aren't of concern.

It is very possible these 2 growrths are infection related to the humira I take.
So the plan is 1. 2 specialized urine tests to check for fungal infections (my Primary dr. put in the order for my Lung dr and will get these done next wk when at infusion).   2. Dr.Biller feels a bronchoscopy (basically a scope of lungs) is also warranted though b/c the area these are in is very hard to access they plan is to instead start with a saline flush of 1 of the areas and then test that flushed saline via lab to check for infection.
If those are negative I am not sure what happens next but will worry about that all when/or if needed (possible things could be but less likely cancer, infection, and may have been 1 other thing).
 Right now there's just enough other things to deal with!

UofMn AND headed to UofMn tmrw for the longitudinal MPS I study to so enough other things to get through 1st.  (I think this is the last visit) finish that study up. Basically a 1/2 day of realllyyyyyyyy boring testing. Like mind numbingly boring testing!
But if we as MPS I Adults don't do it then how do we expect Drs/Researchers to ever understand our brain and memory issues? So thus I have done the study the past few years and will do the last study visit. Hopefully honestly this information will be useful anyways for the new drug my PCP and the BioTech company are working to get approval for. While in Mn i'll see a few of my friends so that atleast is a fun part.
                                                                 

Bay Beach Amusement Park               
     Before the upcoming hernia surgery (Aug. 1st), and Pulmonary-Bronchoscopy I am going to my most very favorite place with family. I have pre-op late next wk but then convinced family we should go to Bay Beach (Amusement Park, Green Bay) this yr. We haven't been there in a year or 2 and I absolutely LOVE that place so am super excited!!! I am like a kid in a candy shop when it comes to carnival type rides which is what Bay Beach is (rides, rides, rides!!). Can't wait!!
                                                             
General Surgery, Hernias  - This has been a little difficult bowel wise though is this related to the hernias? Guess won't really know till after the surgery and even that will likely take atleast a few days as I am sure it will be atleast some painful and all the air they place in ones bowel (I think? Given it's an open surgery?) with surgery and anesthesia meds will likely screw up bowels even more. Such joy. I can hardly wait. I seriously pray just about every day if not every day (amongst other stuff and not always just asking God for help but thanking him to) that something be sorted out soon with atleast one of my issues. The bowel stuff? Headaches (over a year later and no closer to an answer. Still waiting on this stupid intracranial pressure monitoring device =0/ )  or other issues but those 2 are the top things at the moment and the most affect on my daily life. I pray this surgery helps the stomach stuff.
                                                                      

Cardiology - Heart monitoring
I have been wearing a newer heart monitoring device (similar to the Zio heart monitor i've had at other times)  the past 2wks though have to wear it about 5 more days as there where about 5 days the monitor came off and I had to wait for new patches to adhere the monitor to my skin with. The Zio definetly works easier AND has a button on it you can just press if there are any episodes. This one does now have that and so you have to carry a little paper booklet around which I have not multiple times (like when I was moving). Kind of annoying! Makes ya appreciate those things that are easier though. =)
                                                   

                 
Thanks for stopping by,

Erica

General Surgery; moving fwd w/ surgery. Compassionate Access drug...

Just a update - surprising I am writing this for once the same day as an appt! Anyways a few things to update - both the ultrasound/General Surgery f/up and then a update on the compassionate access drug.

General Surgery Appt / Ultrasound
This Appt went well - the ultrasound Tech told me right at the ultrasound appt she confirmed there where 2 inguinal hernias on the ultrasound but thankfully the scan was super fast and I was actually able to stand up while she did this so much easier on my head and my body!

I saw my General Surgeon in clinic (love that her Secretary was able to schedule this f/up right after the ultrasound!) and she confirmed what the Ultrasound Tech told me. After going over her concerns and what would/could possibly be problematic with the surgery approach she laid out that she would in fact use mesh for this open (vs laparoscopic) surgery approach to give the best chance of these hernias not recurring due to my underlying genetic disorder (and our high propensity for hernias).
Surgery will be at the hospital vs at the out-patient center but likely should still be able to go home the same day. My LP Shunt (drains to peritoneal (or essentially abdomen) shouldn't be an issue and especially b/c she is doing the open surgery approach.

Surgery itself is scheduled for Aug 1st so I should be all moved and settled I would hope in my new Apt! I love that this Surgeon is well aware of some of the issues she may face and that are concerns for my case like airway, the need for cortisol replacement and my being on humira which she/her team have already spoken to my Rheumatologist and have a plan in place for the humira dosing. She sounds like she'll be a great advocate for the need for the cortisol should anesthesia give any issues (and my endocrine dr and PCP always do a great job sending this info over to any Surgeons I have).

Compassionate Access Drug
I again can't say a lot but the new goal per my PCP at an appt today (whirlwind day, 1st the ultrasound then General Surgery and the PCP Appt at a different clinic/site) would be to do a 5-6mo trial of this alternate drug as that's apparently when pts. notice most improvement if they are going to if I remember what she told me right. 
She's figuring out dosing and infusion time for my case to avoid the same fluid overload we deal with w/Aldurazyme when I was getting it in the total 250ml volume dosing over 4hrs (my dose now is 150ml over 6hrs with the same actual med dose based on weight). I forget if there was something else but the other thing they'll figure out is with this other drug there's increased chance/risk for blood sugar increases/spikes I guess due to how the med is mixed or given (I don't remember exactly why this was but do remember a few friends having this issue in the study) but Dr.Simpson said 1 potential way they avoid this (if I remember right which may be a bit questionable we talked about ALOT today! =)  ) is eating candy/food at various times during. I kind of laughed when we had talked about this and said once I get past the 1st few hours of the morning at infusion food isn't usually an issue. Sometimes I just munch a little, other times I eat more but I always pack a variety of snacks and almost always some food or another for a lunch (PBJ (1 of my favorites!) or a salad or if I've brought something from when at  my parents) to eat and typically almost always have some candy in my purse or bag. 

Dr.Simpson also said she had reached out to and talked to my Cardiologist (Dr.Earing) and Neurosugeon (Dr.Iskandar) and both signed off on my doing this drug as an alternate trial to what I receive now every wk. I do not remember what exactly concern Dr.Iskandar asked Dr.Simpson about, if there was an increased infection risk maybe (?) but she seemed to have gotten past that and was happy with both signing off. 

Right now Dr.Simpson just needs some final paperwork from the study person we both met a few wks ago and per an email earlier tonight from the CEO is sounds like that would be sent to Dr.Simpson next wk. Once the paperwork is submitted to the FDA the CEO just asked that I (or Dr.Simpson) let him know and he'd label the drug vials for my case. SO HAPPY!!! Literally a month ago we didn't think this was going to happen!!!
                                                Visit at Infusion from Genzyme Patient Liaison
                                       

                                 
Even in the toughest times God is ALWAYS with us and always has a plan. His timing is not always my timing but then sometimes he just works in mysterious ways and we get fantastic surprises to! I am so excited as honestly the shunt/headache stuff and other stuff has been sooo trying at times I just needed something positive health wise (and today it came in spades, even the general surgery stuff, it sucks needing a surgery but I am grateful to have a surgeon I completely feel confident and comfortable  and who I feel confident is a team player in this surgery + looking out for all my issues not just the part she'll directly work on).
Although I never stopped trusting that God had/has a plan this all just reinforces how good and gracious our heavenly father is.  I am so grateful for my faith and for all the people God places in my life.
Thank you to those in my family, my providers who never give up even when it's sometimes tedious or not clear and for my friends who well some of you just get all this like few other can!
Thank you,

Erica

General Surgery Appt (possible surgery), Cardiology Appt, etc.

General Surgery
Sorry for not updating sooner from the other weeks update but I saw the General Surgeon a couple wks ago who like my PCP suspects the swollen area in my abdomen/groin is a hernia but wanted to do a ultrasound 1st just to rule out it isn't enlarged lymph nodes 1st. That is scheduled for Weds and then I f/up with the General Surgeon right after (glad they could be coordinated together! I liked this Surgeon and her Nurse for that). She just said if it is hernia and requires surgery she'd opt to do a open approach versus laparoscopic due to my being on blood thinners (lovenox especially) and needing to stay on these right up till any surgery is done. 
Obviously a laparoscopic approach is less invasive so that would be a bummer but I guess will just see what becomes of the ultrasound and appt on Weds.

Compassionate Access Drug 
In the mean time my PCP heard from the company re the drug and things changed + paperwork is being submitted. I don't remember what I updated last time but the drug person for that company came by infusion a few wks ago and met with my PCP + my PCP then sent her down my way. The drug Rep thought it was possible we could have approval as soon as July. Would be awesome!
                                 

VBS
Last wk I taught VBS at Church which went really well and was fun. I taught 5th and 6th grade again this yr (I teach 3rd/4th for Sunday School but had my choice for VBS again) and really is neat to teach a different grade. Many of the kids where/are my former SS kids and/or kids I had in prior years for VBS so went well. I have TERRIBLE issues with names but have a few work arounds for my aweful memory and my 3 helpers where also great this yr (1 of which is 1 of my regular (pre-k/k) Sunday School Teachers so she knows how I do things and to we know each other well. I rescheduled everything but infusion so was a nice week with a nice 
break from appts!

Cardiology Appt
Saw Cardiology the other week and was a good appt to. Usual just watching various things but overall stable and no med changes. His biggest concern is the not being able to be on regular coumadin (blood thinner) and needing to be on lovenox instead as that isn't actually recommended or approved for long term for mechanical valves but overall it really did seem to be an okay appt.
  
Zander's 13th Birthday
Last this Sunday we celebrated my nephew's (13th!) Birthday and my Dad's birthday as well as of course Father's day for my Dad. Was a fun weekend. One of my closest friends (fellow SS Teacher :) and 1 of  Z's favorites) came as well as a bunch of family to his party which my parents held at their house. Was a nice day albeit a tad chilly for being June!  =) 

                       Happy 13th my bird and tree loving kiddo!

I am probably forgetting something but will try to update after Weds  General Surgery Appt.
Thanks for checking in,
Erica 

Primary dr Appt,, to General Surgery it is; update on the other drug

Appt today with Primary (Internal Med) dr. re what's apparently unilateral inguinal hernia. I've had this for awhile now and had messaged my PCP a few wks ago for which she had asked me to come in then but I had put it off due to other stuff  I had going on and wasn't to bothersome (intermittent discomfort).
I finally made the appt earlier this wk and saw her today for which it was pretty apparent to her right away the issue was a unilateral inguinal hernia. Such fun (note sarcasm on this, lol).
She has 3 specific General Surgeons she gave me the name of at Dean and gave me the option to do a ultrasound 1st but also said she really felt we could bi-pass that as the issue is pretty apparent so a ultrasound may not really have given any more info. After leaving her office I called and talked to the Gen Surgery clinic and have an appt next Weds with 1 of the 3 docs she recommended who (looking at her profile) trained at UW and got out of training a few years ago. I like the younger docs (nothing against older ones, I have quite a few of these to, just the younger ones tend to not be jaded and for surgery cases tend to be more up on new approaches when it's possible which I think is part of why Dr.Simpson recommended the 3 she did).
 So we'll see I guess. - I messaged my former Nrsgn as I forgot to ask my PCP if she thought any repair might affect my 1 shunt placement (peritoneal, essentially in the abdomen) and Nrsgn didn't think so so that would be awesome if not!
                                     

On a separate note my PCP and the BioTech CEO had spoke earlier in the wk and I had gotten an email update from him (CEO) as well and the possible compassionate access drug was pretty much on hold. Turns out just 2 days later my Primary dr got a call today from this same CEO and they are going ahead with trying to get the process started to try and get approval + she, the infusion center pharmacist (where I infuse each wk) + the BioTech folks are working together to try and see if they can get it approved. I have no idea what changed and it's still a long shot BUT my PCP said she had already heard from several different people and she had as well talked to several different people at her center and the process has begun. That's pretty much all I can say but so freaking exciting if it did happen! There's some she/the infusion center Pharmacist have already sorted out (med storage) and other things Dr.Simpson said we'd have to figure out before I started the alternate drug IF it does get approved including the infusion rate and volume (the Aldurazyme I get now has been re-configured infusion wise to run at a longer infusion time for my case and about 1/2 the total volume due to my heart issues and concerns for fluid overload. They'd have to figure these same issues out and what/if any premeds to give if we get the new med under compassionate use. I so hope for a variety of reasons!!!
In the meantime my PCP gave me "homework" (that made me lol =)  ) and said she had homework herself related to this  (I seriously love her and am so grateful to this Dr for all the time she puts in to my care!) She is often working with 1 dr. or another or multiple drs./providers on my team as well as other related people related to my care in addition to doing other stuff she can to make things happen and is always amazing keeping me updated on who she's talked to or what she's working on + where things stand. She is a godsend to complex care! She is amazing at communicating what she is working on or where she is at in trying to reach out to any given other person related to my care + is persistent. I am grateful to her!
       2 years - sometimes hard to believe it's been this long since both moved. I miss them
                                         

                       
Will update after next wks appt. I also see Cardiology next wk (4mo f/up + Echo) so will try to update both things here.
Thanks for stopping by,

Erica

Long time no update but alot to be updated..

Happy Memorial Day wknd! It's nice to be writing this sitting across from an open patio door and the sun shining!the  I LOVE spring!

Not alot of updates on medical/MPS stuff although I wish that meant there hadn't been to many appts! =) I saw the Hand Surgeon who did my 4th CT release and tenosynovectomy on my R hand last fall a week or so ago as those sympoms only partially resolved after the surgery. To keep it short he wasn't entirely sure what to make of this but felt the tendon transfer I had done 7 or so years ago and how that was transfered/lays across the carpal tunnel area could, I guess be adding to the symptoms. The only way he felt to resolve that would be to release or take down the tendon transfer I guess and he couldn't say  for sure that would work + honestly that tendon transfer gave me much better use of my R thumb so I wasn't willing to do this. He thought an MRI might show an issue but this to he couldn't say for sure and with my MPS the (gag, MPS) storage I don't break down isn't visible to the naked eye (from what I understand the gag storage is only visible under microscope?) and to any MRIs I have done have to be done at UW due to my shunts so I opted against that.

I ran this all past my Primary dr (PCP) to see what she'd think but asked if she thought I should either 1. make an appt with the Hand surgeon (at FMLH, Milw) who originally did this tendon transfer surgery (I hadn't had the last 2 hand surgeries done by this same dr due to my insur. at the time was an HMO and last yr just didn't seem like a big deal) or I am going to UofMn later this summer for the yearly neuropsych (cognitive) study testing and there is a Hand Surgeon there who sees ALOT of MPS Hand pts and did my PCP think I should try seeing her..? I personally was leaning more towards my former Hand Surgeon since the tendon transfer is his work, to get his opinion and my PCP agreed  we should start there that way if say surgery where required (hopefully there might be some other way to easily but effectively manage these symptoms!) it'd still be local.

Heart wise I don't remember if I wrote about it last update but after I asked if I could go off the Amiodarone and possibly try something else my Heart Rhythm dr let me stop the Amiod. and restarted Bisoprolol, a milder beta blocker. That along with the Ivabradine seems to work about as effectively as the Amio did and less side effects. I see my Cardiologist in a couple wks for normal 4-6mo follow up and Echo.

GI has been a on/off issue again for which I saw GI about a month or so ago (if it seems like I see ALOT of drs/med people I do and it's CRAZY sometimes! Sometimes to much though thankfully some are just an 1x appt and then there after only if needed which is the case with GI. 

Thankfully a friend of mine, who son has a sister form of my MPS I (her son has MPS III, Sanfillipo Syndrome) has dealt with similar GI issues (as has most of the MPS Community, it's a very commonly affected systems in most of us with many of the MPS disorders but also a issue that hasn't been well studied in my opinion). Anyways so some years ago this Mom had been given a GI protocol to follow from 1 of her sons drs and which she  modified some. 

A few other families have done this same over the years and so I finally tried it and have been doing it the past few wks. It's actually not hard and has been easier than I thought it might be. So we'll see longer term! I am a big believer in trying minerals/vitamins and more natural approaches as much as possible so that atleast has been nice.  

Last month I was in Boston for the marathon (same running partner as last year, Cheri and I had alot of fun and was great to get to be there in person cheering her and the whole Running for Rare team on this yr! The day before I flew home I saw my Genetics team at BCH which also was fine. The NP I primarily work with outside of appts (Dr.Bodamer, Genetics dr is also great about answering the occasional email I send if there is something I or my PCP or team are trying to sort). Afterwards Leah (NP) and my PCP spoke and came up with a few ideas + what the they felt needed to be done labs and other testing wise that we hadn't already done. I LOVE Boston (although would mot want to live there!).

In addition I also met up with and had breakfast with my Genzyme Case Manager which is always nice. She will be going out on maternity leave with her 2nd kiddo later this summer for a few mo's so was nice to catch up. 

Last although I am sure I am forgetting something (I really should write these more often, I have been terrible lately! I am so much better at keeping up with this blog when the headaches and thus vision aren't such an issue!) - 

Pulmonary - I saw Pulmonary about a month ago or so which she had ordered another CT Scan to monitor a lymph node/issue from the past few years and just in general f/up on the lung issues. The CT Scan shows the lymph node has apparenly increased in size again for which is concerning apparently. My PCP had wondered some about this and Lung dr spoke to 1 of the Radiologists she likes working with at FMLH  to get that drs opinion. The consensus seems to be they don't know what the area/changing lymph node is but feel it's unlikely to be cancer (a thought that hadn't even crossed my mind when she said this) but could be an infectious process or there may have been 1 other issue it could be but honestly I don't entirely remember the whole conversation now.

They'll do another CT Scan in 3mo (so 2mo from now) and if the area has continued to grow then they'd figure out a way to biopsy the growth I guess which it seems from my Lung dr is not all that easy due to the location (so would likely require a more invasive, open general anesthesia I guess). 

For now it's a few months away and other things to con't to sort so whatever will be will be - God has a plan.

And last Peds Neurosurgery, this literally is still at the last place I left it with my Nrsgn still trying to get approval/IRB in place I guess at his hospital though he has the FDA clearance I guess for the not yet approved implanted (rayumedic) ICP device. Sometimes I wonder if this issue will EVER get resolved and headaches/nausea better again!? Super frustrating I must say all the secondary affects!

This has turned out to be reallllyyyy long so i'll sign off. Thanks for stopping by,

Erica

 

Many updates, lots going on.. (MPS never stops but thankful)

It's been a long while again since I've written here so sort of a long update (sometimes fb makes it to easy to just do short updates there!). =0)

3mo f/up, Cardiology,  Febr.
 My PCP reached out to my Cardiologist after the Cardiology (heart) appt back in Febr about the meds I am on and the fluid issues  + my Cardiologist had mentioned at the appt back in Febr possibly adding a 3rd med on short term basis (3 day cycles I think which is what my PCP has been doing with larger Lasix doses intermittently where she has me increase the dose from 40mgs 2x daily up to 60mgs 2x daily and then back down to 40mgs twice daily. We are having to do this quite a bit but my PCP just asks that I let her know when I am adding the increased doses which has been generally once a wk lately give or take.

Anyways I was a little confused about the med after the appt but was also a lot we had talked about but after PCP spoke to Cardiology instead of adding this 3rd med on intermittent basis for now he told my PCP its something he'd consider down the road.
Honestly I am ok not adding another med, I am tired of meds (how's that for perhaps sounding a little whiny and brutally honest but it is true). Some actually make a difference others I just feel like its just another thing to take.
So for now we've just been doing the additional added dose of Lasix as needed (which is enough). I f/up in May. -
I suppose one of the most frustrating things of the appt is the standard fall back about how symptoms are probably heart and lung related and "progression of your MPS".  Anyone who knows me knows I despise when drs use that (what seems to me) cop out answer as to me "progression of your MPS" is not really an acceptable answer but what can you really do?

Neuro Opthalm/Optometrist: 
Seriously between headaches/pressure and all those secondary symptoms (and then the new glasses script I got earlier in Winter was not correct so I ended up with my Neuro-Opthalm., suggestion just getting a re-exam at my local Optometrist and a new eye glass script (which has been better than the 1st). For whatever reason the 1st script was changed to near sighted and I most definetly have more issue with far distances though my glasses are bifocal.
 Vision in general is not all that great with reading (stinks because I LOVE reading books but this won't improve till the shunt/pressure headaches are back under better control. My Peds Nrsgn says the implanted pressure monitor he's been trying to get approved is through the FDA process here in WI and now (I guess) is just getting it all set up at UW. My PCP (LOVE HER!) spoke to him twice last wk and in one of her messages told me what she spoke to him about including asking him if this device was in fact ever going to be approved or where we just being strung along (not exact words).

I said on a fb post if it is possible to have a provider who was a God send then my Primary dr is in fact I consider my gift from God. She seems endlessly patient and to never give up.
Not only has she repeatedly spoken with my Neurosurgeon and my Cardiologist and other of my drs., but she's spoken with the CEO of the company whose (reformulated Aldurazyme) drug we are trying to get under compassionate use and if this in fact becomes a option (they will speak again in 6wks after some changes are finalized at the company) then she will go to bat on my behalf at her med center/my infusion site that I be allowed to receive this drug there.
She's already taken steps to confirm a few areas related to this drug and has laid out who on my team she'll speak to, to confirm they are ok with the plan if we can get access (there is a lot of if's on this access yet).

I like my team of providers but my PCP truly gets a gold star for SO THANKFUL FOR HER! I at times worry a little I must be a pain in her *** b/c it literally seems like there is 1 thing after another with my case that I have to ask her help for but she never seems to mind (or she hides it well, lol =) )  as she continually responds to messages and is open to what I think.

 In my rare world we all need a dr. like her on our team to help manage complex care and for a dr. who admitted she knew nothing about my disorder when I was 1st given her name and 1st reached out to her she most definitely stepped up and kept her promise she would learn!

WORLD Mtng - Orlando, FL
I was in Orlando for the WORLD Symposium back in Febr., which is 1 of my favorite mtngs throughout the yr. - there was not a lot of talks related to my MPS this yr but I had quite a few mtngs and lunches with various Biotech Co's I do work with and all of those where interesting and at minimum insightful. It is 1 awesome mtng I am always grateful the foundation I work for is willing to send me to!

Headaches -
Headaches oh the headaches - I have been having some pretty fierce radiating pain along my LP Shunt which goes from the valve/reservoir on my low back around the side to the front and super painful whether sitting back or standing although thankfully does ebb and flow some. In addition it's also started (although thankfully this much more intermittent than the other pain) getting a very odd, really uncomfortable pain like a shooting pain that's very clearly from the shunt (b/c I've had the same before in the past). Oy!
I pray about this virtually every day. I can only keep praying something will happen soon but honestly it's hard to even try to be optimistic anymore about the shunts (doesn't mean I'm being negative just realistic). Sometimes I still can't believe even 2.5yrs later I'm back to not really having a great Neurosurgery team. That isn't to say the Nurses/NPs and Secretary aren't great, they are but unfortunately they aren't who fix shunts. I can only pray my Nrsgn really does get his device approved SOON and it gives us information for which he doesn't just SIT ON! =/

Neurology Appt.
 I saw Neurology at Dean earlier this wk - my PCP wanted to get their opinion see if they had any insight or at the very least show my Nrsgn that they to feel it is shunt related (which this dr did based off what I all told her). Not that this will likely do any good but atleast it's 1 more piece supporting me I guess which is odd to even say.

Labs -
Last but  not least I guess due to some other issues my primary dr had run some general labs which came back with a few off results (most where normal, a few where off); thyroid we'll check again in a mo., although given the long standing-on-going headaches I'm not surprised it was low.
 My Neuro Endocrine dr has been able to establish when I have longer standing pressure issues it over time affects my endocrine hormones and especially thyroid level. PCP added a short course of prescription strength potassium to the daily potassium I already take and iron is on the low end of normal if I remember right but I do already take that daily to.

GI System has been kinda a mess lately (a life long struggle for me way before the MPS was even dx'd) but with a friends help I've added in a few new things including a strong probiotic, digestive enzymes anytime I eat and (sliighhttlllyyy expensive) Aloe vera to help calm down inflammation (but it seriously is helping something crazy I think!) which in turn is helping stomach and bowels slowly get back to a more normal. It is always crazy to me how many different areas MPS affects! Literally like a sh** show sometimes trying to figure stuff out but grateful so many people and providers are there to help.
 
                                       

                                                            
 New car..                                          
Last wk I finally gave up on my car and bought a (almost new) one - a 2016 Chevy Cruz.
I am no fan of having a car payment and my car insur apparently in turn now also went up to b/c of the newer car (my other car was a 2011) but this all aside I LOVE THE CAR! I swore I'd never buy this new a car but at the same time I really do love it!
Thankfully I had a 1/3 of the total cost to put down so while my car loan is still enough atleast I have very good credit so it overall is very doable. I'll still celebrate when I get it paid off though! =D)
Thanks for stopping by,

Erica