Thursday, April 25, 2013

Echo, Cardiology Appt update, Hand surgeon info.

My PCP and I have been trying to figure out if we can go ahead w the hand surgery via a different approach or do we need to put it off altogether (waiting would present it's own issues, see below related to the valve replacement(s)) and have been working w the Hand surgeon and his ofc to sort this out. Right now it looks like if we proceed w minimal IV fluids during surgery, use oxygen but no sedation, including no twilight sedation and a nerve block (usually done in the shoulder I believe) and the Surgeon said we could do it w/my being semi-upright during the surgery. The Surgeon didnt feel there was any other viable symptom options and feels surgery needs to be done (3rd time for carpal tunnel release R hand and EMG last fall showed severe recurrence). PCP wanted to see what Cardiology says and perhaps proceed w just the block for anesthesia and oxygen if needed to lay flat during. My Ortho surgeon did say that bc he feels the surgery really should be done we could do the surgery w/just the nerve block and otherwise fully awake (no twilight sedation) and per Cardiologist fluids would have  to be managed closely. Surgeon also said that he could do the surgery while I was partially elevated which would help avoid the breathing issues and headaches. I am not totally sure what we'll do with this yet but is a little up in the air yet though would seem to make sense to get things like this done before we have to go ahead w the valve replacements down the road which could be in a few months or could be in 6 months we just dont know.

Today I saw Cardiology w/repeat Echo related to the appt several weeks ago w/my PCP who called and talked to Dr.E's partner 2 weeks ago and both thought fup should be moved up due to a change in symptoms. The appt could have been as soon as a week after my PCP and Dr.E's partner spoke but this conflicted w the fup w Dr.Bragg from the last shunt revision and as often happens I had to put one or the other off. So anyways the Echo showed that the valve issues and heart overall are essentially the same as Jan but because symptoms are worse Dr.E is concerned do we cont to watch the valve's or do we strongly consider doing the valve replacements now as he said in cases like mine where there are many underlying, complicating factors it isnt un-common to do the surgery when valve issues are moderate-severe but it also isnt a simple decision due to the issues like the on-going (but currently managed) shunt issues/revisions, restrictive lung issues, chronic steroid replacement and prospect of further, future surgeries for the many other on-going or potential issues that occur w MPS I.  Because of the issues especially w/having to sleep upright and now always sleeping on my couch propped essentially completely upright by numerous pillows he opted to double the lasix dose to 2x's a day, is keeping the bisoprolol dose at 5mgs/day and added Aldactone which is similar to the lasix and helps eliminate fluid from the body through a different action to treat over-loading or heart failure like symptoms. The lasix dose is 2x's per day, 80mgs total and in turn hopefully help breathing and cont to buy us time as Dr.E feels we likely will have to do both valves in order to avoid having to go back in, in a year or two and replace the mitral valve vs just (likely) doing both in the first surgery. He echoed the same entiment this time as last visit in Jan of "this is going to be a hard surgery on you and probably difficult but we'll get you through." My response? I strongly wish I could breathe easier all of the time but as i've said here before this surgery scares the crap out of me, even the various brain surgeries which didnt un-nerve me that much the first time seem like a piece of cake (and probably where) compared to this, I think mostly bc of their having to cut open your chest and then wire your ribcage back together. Makes me cringe just to write this. I follow up in a month and repeat today's lab work in a week (will do a week from monday since I am already at CHW for infusion)
He did say when we do the valve replacements is a little up to me, can I live w the symptoms the way they are, he feels it's a balancing act as he is concerned on one hand waiting to long but also concerned how he thinks from other experiences the surgery or more the daily coumdadin will impact day to day life vs how it is now. Yuck. He commented the impact he thinks the blood thinner will have on future surgeries and day to day life but he strongly felt it would have a impact though I am not completely certain how other than labs have to be drawn frequently (I believe) to check levels w/ his big concern was all the troubles we've had w the shunts and of course other future possible needed surgeries like the hand issues, spine issues, etc. The shunts are probably the biggest concern as we've had so many on-going issues with these, they can fail or require revision at any time and atleast one of the shunts reside in the brain which with blood thinners would be problematic to say the least. Not awesome, definetly not awesome. Although I have the restrictive lung disease I dont think the TPL shunt residing in the pleural space will post a problem for the future valve replacement surgeries but am not certain about that, Dr.E asked (to confirm) where they where today to make sure the locations hadnt changed and didnt make any comment that it would be an issue and when I asked Dr.Bragg a few months ago she didnt seem to think the shunts being where they are now would impact the valve surgeries either. Ive had a few MPS individuals comment they would be concerned if I chose to have this valve surgeries at a hospital independent of Dr.Bragg's location which is a strong possibility will happen but (and hopefully this will remain true!) she didnt seem to think I would have any issues w the shunts during the open heart surgery.. I guess when I see Dr.E in a month we'll see how the new med and the old med, new doses are affecting lab work and we'll see if symptoms are improved/improving and decide from there if we cont to watch, give it more time or whats next.

I think thats about it, stay tuned, as usual!
Thanks for stopping by,


Tuesday, April 23, 2013

Appts (Urology, Cardiology) and people who get it..

This has been one of those updates written over the past week, my apologies! I'll try to make this make sense and label the appropriate sections which are recent and which are older. The Hand surgery which has been cancelled and re-scheduled numerous times over the past 6 months has been put on hold either indefinitely or atleast until we can get the breathing stable and secondary (primary) heart issues ironed out. In addition to normal (ERT) infusion yesterday I had Urology this morning in Madison and have Cardiology w/Echo before-hand on Thurs back in Milw at Children's.

This morning (Tues) was the Urology Appt which is another appt ive been rescheduling for the past 6+ months due to all the shunt revisions and in-patient stays. This was a new specialist as I had to switch from UW where my former dr was at but today's dr seemed pretty nice and knowledgeable about neurogenic issues. She has ordered repeat testing (urodynamics) and a camera imaging study which is used to visualize the bladder and areas to see if she can get any addt'l ideas of how best to treat my issues which is a combination it has been believed of neurogenic bladder secondary to spine-nerve signal dysfunction (not sure if that's the best way to put it) and thus the signals to the bladder don't always work properly. Right now we are just increasing the one med dose and may add an addt'l med or there are a few other newer options as well she mentioned.

The Cardiology appt I think (but am not certain) we'll discuss the changing breathing issues and fluid retention and maybe start making a decision where to have the valve replacement surgery done at? It is between the 3 and 6 month time frame my Cardiologist had hoped to be able to wait since the last shunt infection and the shunts while neither perfect are atleast working and some symptom relief and far better than it had been for along time which i'll take! So in other words I dont really know what to expect at that appt. Hopefully he will have some suggestion on being able to feel like I can breathe a little easier? I hope! I think my PCP when she had talked to his partner was hoping they could just advise us how best to proceed w/managing the symptoms till we do figure out where the valve replacement(s) will be done and when.

Earlier last week..
I keep thinking about how at ease it is to be around others like this past weekend (a little over a week ago, Boston) who just get it, who either because they work in the field for some reason seem to understand or because they themselves are also deeply involved in rare disease either because of themselves being affected or more often because their child is affected by a rare disease and even then it isnt every parent or every individual in the rare disease community, it is only some. I think after you are home for a while you almost forget how nice it is to be with others who also get the struggles, the frustrations, the time and the effort you deal with related to having a rare disease but as soon as you are back in the midst of people who do get it you feel 'at home, at peace' and the first few weeks home are actually a little lonely in that regard. You miss being in the midst of the people  who do just really get it and who dont take alot for granted. =/ As with anything you adjust and you jump back in to normal, busy, crazy life filled with phone calls, insurance, appts, paperwork and all the other activities one might be involved in but in the back of your mind you wish a little bit you could bring those people to you or you to them more often!
I definitely am so glad I went this past week to Boston though especially considering I was initially uncertian if I wanted to spend the money and I wasnt certain if I would feel up to it and really I was deciding at the last minute whether to go or not, even though I had known for several months that I was paired for the Genzyme running team and had 'met' Jess a couple months or so ago. One of the best decisions ive made! Thank you D6-4 (neurosurgery) nurses for convincing me I should just do it! (I had been talking about this trip a month ago when in-pt after my last shunt revision and about being un-decided if I was going to go or not.  There is just nothing better than being with others who just "get it" and when I am w the folks at Genzyme I often just feel so at peace, in a way I cant explain but it's like you dont have to explain how you feel, what your feeling or be anything except you! And having a rare disorder isnt unusual to them, although they dont have the disorders themselves they still seem to just get it.. Thank you so much Jess, Jenn and to the rest of the team for such a great weekend filled with so many great memories both at Genzyme and around Boston as well as on Marathon monday. I hope to be back next year!

I wonder how many others w MPS I are asked if they ever think about how MPS I will affect them down the road? If they are ever asked "do you think about how MPS or it's affects will likely be what causes your death in the future?" I have been asked this by providers not with ill-intent but because they are concerned I suppose about if I think about that MPS is a chronic and really potentially life-threatening disorder which will likely be what causes my death someday. Honestly though I rarely think about this other than occassionaly in the context of the heart valve replacement surgery which my Cardiologist has said he thinks will be difficult and I admit I am not looking fwd to and frankly scared about..  So those sentiments have been on my mind a little on and off but at the same time I think or atleast I believe I have to put my trust in God, a God who knows his plan and the plan he has for me. I have to trust whichever drs we ultimately decide to have do this surgery and I have to trust that whatever the future holds it will be ok and I will be ok. I admit to worrying at times about losing my ability to be on my own and do my own thing though, I cant imagine if I ever had to rely on someone else. God help me, seriously if that where to ever happen! In God we trust, right?

We had our last sunday school meeting of the year last week, Joan, my co-teacher and I have decided to co-teach again next year though I let her know I will likely be having the open-heart surgery valve replacements either this summer or fall and may again miss some of the class weeks but also said if needed I could arrange a short term sub. She was fine w this and we both agreed we just seem to make a good teaching pair for our kids. I taught sun and have (I believe) 2 more sunday's left, Joan also has 2 sunday's left.

Other than this all saw Pain Mngmt last week and have a few newer med options we may try down the road, was a long-ish appt but we are keeping meds the same for now. Most of it was spent talking about a mtng my PM dr was at the weekend before and updates she was sharing with me. Potentially scary changes coming down the pipeline. Always good to talk to her, hear her news from what she is involved in as she is fascinating and so full of information + geniunely interested in my care.

Will update sometime after Thur's appt.,


Tuesday, April 16, 2013

The infamous Boston Marathon

Thank you for all the messages and thoughts on my fb page and text messages or calls, I am amazed and completely appreciative of how much all of you, my friends and family cared if I was ok and that I was home safe from Boston!

I'll post some pics here from the various events Sat night (Marathon dinner at Genzyme-Allston w our Marathon runners and a few other Genzyme employees), Jess and I doing Boston sunday afternoon and breakfast at Allston monday pre-marathon + a bunch of us from Genzyme cheering on the runners at the Genzyme station in Wellesley on race day. Very fun! Too bad such a sad end to the day. =/ I am so grateful I chose in the end not to go down to the VIP seating area at the Boston Marathon Finish line as our seating area was directly across from the finish line, Jess and I in fact went down there the night before and took pictures.  It was very nice seeing my friend Jenn Siedman and her family again, I had stayed w them a few years ago and all of her kids have grown up so much! Ben, her son has Sanfilippo another form of MPS (type III) and I admit I wish I knew better how to help Jenn and her husband Stuart (super nice guy too!), Ben was alot less far along in the disease progress last I had saw them (other than running in to Jenn last summer at our National MPS Society Conf/Gene Spotlight meeting in Boston but I hadnt seen Ben then.) and Sanfilippo is just such a very different disorder than is MPS I, my disorder. I wish there was a treatment for these kids, they deserve something, they (and their parents) go through so much and to make it 10times worse the Sanfilippo kids/teens often cannot talk and it is a guessing game for their parents/care-givers. I am incredibly thankful to have friends like Jenn and her family though who get it, who get MPS and who I can/could talk to and was just normal conversation but we both completely got what the other was saying. Our frustrations where the same essentially, our feelings where alot the same.

I flew home monday evening well after Jess had finished, she finished the race ahead of the 2 bomb blasts by about an hour and was well out of the area already and some of the other marathon runners  where also already finished and several others where around mile markers 24-25 I believe and did not get to finish. Such a sad, incredibly sad end to a great day. My prayers go out to all those affected directly.
                                                 Jess and I, Marathon morning (Breakfast, Allston)
                                            Jess's shirt - 'suffering, perseverance, character, Hope'
                                              At the Genzyme hang-out, Wylder's Warrior's paint (Neiman Pick kiddo)
                                            Izzy, Jenn and I
                                                 Loved (!) this banner
                                            Will be forever grateful I didnt use this, seating directly across from blasts
                                      This is exactly where the blasts happened, pic taken the night before
                                        Jess and I, the night before at the infamous finish line, 'Team MPS' shirts

Thanks Jess for running on my behalf, for raising awareness of MPS and for raising funds for NORD!

Thank you Jenn for having me for the weekend, I had a really great time with both of you ladies!
Thanks for stopping by,

Thursday, April 11, 2013

Chromosome tattoo, Neurosurgery Fup, etc..

Tattoo of Chromosome 4p16.3 - it's a little hard to tell but but the 16 is there. :) This is where the error occurs in MPS I pts.

I saw Dr.Bragg earlier today and not a real big deal as we are essentialy doing what we've been doing since this last surgery/revision, waiting and watching to see how the shunts do and will they atleast keep functioning partially so I keep feeling atleast partially improved, partial appetite, partial headache relief? She asked if the double vision was still an issue and honestly sometimes it is, sometimes it isnt? With the stronger lenses this has helped atleast be able to help see more clearly and surprisingly (atleast based off what the Eye doc had thought) it took next to no time to adjust to this new lense strength.. I can tell as he said it's still not strong enough but it is better which is better than nothing! (the story of my life!) Probably in 6 mo i'll get it increased again unless would have shunt troubles sooner. If I can make it and we can keep the shunts working I wont have to see Dr.Bragg till June. We can hope! :) Not that I mind seeing her but just the fact of the matter would be nice if shunts stayed working atleast as they are! She did say just to call if I started having any worse problems and we have a little wiggle room with the VP shunt valve adjustment (setting) yet. I completely forgot to ask her and have been meaning to since the last surgery (could email, not a big rush yet) on how will coumadin daily, which is a blood thinner affect our shunts and future revisions we do as we sort of figure when the heart valve replacements are done and I am healed from that we'll probably do something else w either the shunts or other things we've talked about though anything could of course change between now and then.

I am also putting on hold likely till after the valve replacements the 3rd carpal tunnel release and synovectomy/fat pad transfer surgeries on each hand but will get my Cardiologists opinion when I see him in 2 wks if he thinks  I should do it before the valve surgeries or wait given the coumadin will definetly make future surgeries more difficult.

Went to the 1st Pediatric Hydrocephalus Foundation Support Group mtng tonight - hosted by a family ive recently gotten to know a little and who is the Volunteer President of PHFSG. There where just 5 of us there tonight which made it nice actually and pretty informal.

Otherwise I leave for Boston Sat, we have a dinner at Genzyme Sat night, are doing a group thing sunday and lunch sunday + dinner w the family I am staying w + Jessi (my runner), then a breakfast on monday morning also at Genzyme and the race right after. :) Should be busy but fun!
Thanks for stopping by,


Tuesday, April 9, 2013

In the "in-between"..

I think it's probably fair to say that many of us atleast in the MPS and for that matter chronic disease community feel like we are often in the "in-between". In-between waiting for an answer, in-between waiting for an appt with a new specialist, in-between a test and a result, a question and an answer, a thought and a idea and for many in-between feeling pain and feeling better.  It can be a tough wait and for those who believe it can be challenging as you want to find your own answer or your own new provider but first have to wait to hear back from a primary dr or specialist, wait for a result for a diagnosis (be it "thee" diagnosis or a secondary diagnosis related to our underlying issue while also trying not to question ones faith. Wait for a referral to a specialist who has more experience but required by Insur or in some cases multiple insurances to see a provider or providers who have multiple opinions but no real understanding or for that matter any experience with our underlying disorder or presenting issues.  I know ive talked numerous times before about how uncertainty is the hardest part of MPS and any of my numerous health issues for me as I like answers, I like knowing a plan and I like knowing there is something being done or atleast considered to help me but most of all I just do better when I am involved in my own care. ....

I came across this article earlier today and thought it fitting, I liked it and a good way to think of what has already been done for us, and for which we can be thankful each day thanks to God's son Jesus dying on the cross to figure our sins, descending in to hell,  beating the devil and the 3rd day rising again to save us from our sins.

The day of in-between
March 30, 2013

Today is the day of in-between. The day between Good Friday and Easter. The day in-between.
The day of not yet, not quite, and almost.
The day of being somewhere, but no where. Placed, but unplaced. Lost, but found.
Today is the day of in-between.
Between grief consuming us and joy that explodes out of our bones.
Between tears on our cheeks while we are wrecked weeping and tears on our face from uncontrollable laughter.
Between hope and resignation.
We live our lives in this day of in-between.
Always between something. That is what we are.
We are the girl caught in the strange place between a young girl and a young woman. Where men look at her at though she is a woman, but her heart is as innocent as a child.
We are the boy between wanting to play pirates and ninjas and pirate-ninjas and being told to grow-up and become a man.
We are the old man in a hospital bed ebbing between the vibrancy of life and the vapidness of illness.
We are the couple between resolution and conflict. Anger and remorse. Holding grudges and granting forgiveness.
We are the woman torn between grieving the loss of her lifelong partner and best friend and celebrating that he knows pain and struggle no more.
We are the ones who inhabit the day of in-between.
But we are not in-between hope. Our hope is not caught in-between because the divine stepped in-between. Became in-between.
In-between king and servant.
In-between accepted and outcast.
In-between powerful and helpless.
In-between humanity and divinity.
Our God came in-between.
Today is the day in-between. The day between Good Friday and Easter. The day between death and resurrection.
The day where we live.

Thank you dear Lord for what you have done and cont'd to do for me in my sinful nature,


Monday, April 8, 2013


Talked to Cardiologists Secretary earlier and then heard back late this afternoon; they wanted an appt on thurs the one day of course that is packed full of other appt (neurosurgery-shunt revision fup) and plans (grr!!!!!) and so while I doubt it makes my PCP happy (she wanted the Echo within a week) the appt is scheduled for 2 wks from this coming thurs. I couldnt do 2 weeks from tmrw (a tues) due to another appt in Madison ive rescheduled 1/2 a dozen times already due to the shunt revisions and other appts and so we settled on that thurs. The breathing issues are a little better than last week so hopefully this symptoms will just stay slightly settled!?? Although id very much like to be able to breathe better (not have to think about it, it just be a normal effort or go back to normal, not be an effort to get enough air at times) I dont really look fwd to the appt after the Echo as im guessing we'll be looking at/thinking about who should do the valve replacement(s) and really thinking about what steps need to be taken care of before this is done (dental work for instance) I see the dentist 1st wk of May, am guessing there are 2 back teeth that may be pulled as they are very cracked from anesthesia and although (knock on wood, say a prayer) not painful seem to be getting worse as far as how far they are cracked. We also really have to decide where we are having the valve replacement(s) done as there isnt any drs out there who have much experience w MPS pts and much less truly complex underying issues and MPS so my Cardiologist was considering someone he trained under at a private heart hospital in Mn when he was training at Mayo in the ACHD program (not my first choice, would really like to stay in WI) and I want to ask about places like UW (cathether based, maybe not an option as would then going off others who've done tissue valve's experience typically require fixing/replacing valve again in another few years) or his own hospitals programs.
Not fun any of this!

Otherwise I see Dr.Bragg for fup thurs, shouldnt be any big deal, not sure if we'll adjust the Codman-VP shunt valve down or not but shunts seem to be working atleast somewhat which makes this 3 weeks now I believe, some kind of a miracle - and I know your thinking "well how is partially working any good?" Well both shunts working partially is better than either shunt not working well or one not working at all and is relieving pressure to a fair degree so I will take what I can get for now!

Also getting the tattoo on my inner (upper) wrist/arm on thurs - a chromosome of where the MPS gene lies so hopefully turns out well. Same place I got my 1st tattoo so not to worried and shouldnt be as sensitive a spot.

Will post pic after and update if anything new from appt w Dr.Bragg.
I leave for Boston Sat.
Thanks for stopping by,


Friday, April 5, 2013

PCP, breathing, tattoo appt..

Just  a quick-ish update, I had been thinking about getting a 2nd tattoo on and off for awhile but wanted it to be something id like and had a few tentative ideas so was just a matter of time I guess. I finally thought of doing the IDUA strand of DNA which lies on 4p16.3 and is where the error occurs for MPS I. I'll get the actual tattoo next thurs after fup appt in Madison and had the initial appt today (Weds),

 **Update, Thurs. - Dr.Simpson (PCP) sent me a note earlier today that she had called my Cardiologist and was just waiting to hear back from him to get his sense of what he felt we should do next ie (see below) the Echo as she would like or something else. I imagine if he'd want anything since she already did the other tests he would also say do a repeat Echo.  ..

It seems like it's been eons already since I got out but in reality has been just over a week from the last shunt revision and cont's to go fair, atleast the new (VP shunt) valve seems like it is working some and that is better than nothing.
The breathing symptom recurrence started last week actually while sitting in church I was having annoying episodes of feeling short of breath again, initially lasting short periods and isnt realy like an "i'm winded" feeling but instead is similar to the episodes id get before I was put on the new cardiac meds and feels alot like I am suffocating if anything. The symptoms have ebbed and flowed over the past few days so are more intermittent like they where late last week vs how they where the beginning of this week.  I had sent a note to my PCP on monday and her nurse caled me that night wanting to set up an appt as my PCP was out of the ofc + she thought it needed to be evaled. I had the appt today (Weds) since I was in town and PCP did a few hands on simple tests to see about retianing fluid (back when I was in the hospital from this last surgery I was having what amounted to/looked like marshmallow effect like swelling in my stomach and feet bt that improved once I got off IV fluids and even more so once I got home. The simple tests she did could show her if I was retaining fluid elsewhere in my body and I apparently am (weight was about 10pds more than several days ago/and previous appt so she wanted to do chest Xray, labs (looking at cardiac function) and (I believe) talking to Cardiologist, will get back to me with results and mentioned if the labs and chest xray where fine she would likely increase the lasix short term and want a repeat Echo and EKG but I (think) will talk to my Cardiologist. Would be nice if we did the lasix if it worked at the increased dose and then symptoms resolved once we backed down to normal dose again!  The lasix dose she is considering  for 4 or 5 days would be small from the current 40mgs to 60 mgs (a small increase, short term as I struggle w the lasix dosing).  Add in: Just read note from Dr.Simpson on MyChart, labs where fine minus mild on-going anemia (no change) and Xray also fine. She requested I set up an Echo + we'd go from there
I am assuming she means through my Cardiologists ofc but unsure so will wait for that response, I cant imagine it would make to much sense to do a repeat Echo anywhere other than where all recent, previous ones have been done though for comparison sake? These admittedly are the times although I totally know how busy drs are and especially PCP's it would be quite nice if they talked to each other to square this sort of thing away or Cardiol. could work w/PCP on thoughts. One can wish it where that simple, right!?

Yesterday (Tues) I saw the local Optometrist and array of eye tests + the usual insight (Astigmatism, Far sightedness, likely need bifocals within a few years) and ordered new lenses though those will be put in when the order comes in as I stayed w my current frames vs buying another new pair since ive only had these ones since last fall. Optometrist didnt do the full rx again which is fine by me and just said since I was able to adjust to my current prescription this to would take a little getting used to but shouldnt be to hard. Fun.

I'll update when I know anything from Dr.Simpson and otherwise next week is just a few things going on (the usual ERT monday, Dr.Bragg fup Thurs and tattoo thurs as well. Off hand I think those are the only things. I leave for Boston on Sat. the 13th.

A last note I like doing either a review game or a craft for part of the Sunday School class when I teach and came across an idea to use felt, dowels and other craft items to make banners for 'He is Risen'.  This is just the starting point and the kids will then be able to design/decorare their own banners and choice of colors however they chose in class + can then be hung if they like.

Stay tuned, thanks for following these updates,