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