Friday, May 31, 2019

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,


Sunday, May 26, 2019

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,