Thursday, February 27, 2014

Neurosurgery Appt

Today's Neurosurgery Appt went ok, I have to say as much as I like and do trust Dr.Bragg I just did not want to be there asking for her help again. =/ We where discussing possibly taking out the current TPL Shunt (Codman) valve and putting in a smaller-more in-line valve (same Codman brand though) so it would be less 'feelable' with movement or sitting back as I don't have a lot of extra fat to cover the valve that is there now and sits mid-spine so not much cushion available. Dr.Bragg is talking to her Codman rep next week but is going to schedule surgery for this which it will be more minor compared to many of the shunt surgeries but still a general anesthetic which means Anesthesia and accessing airway. I asked if we could wait till the end of March and Dr.Bragg asked me to get Dr.Earing's blessing on this given the mitral valve changes (I don't think he will have a problem, if anything he may suggest they monitor more closely but that although more time consuming would just mean the A-line placement for monitoring heart more closely). I am not sure but think this all may depend on how well we manage to get heart rate down/closer to his intended target of 60bpm range.
Dr.Bragg must have saw these cardiology appt updates as she brought it up and asked me to mention the surgery plan to Dr.Earing (I fup w them the 2nd week of March and otherwise could have just let them know when we spoke regarding Heart Rate and INR Monday) Either way we'll have to stop the Coumadin for this surgery again.
She asked me if I thought where the cardiac changes due to stress which although it probably does seem like there is a lot of stress in my life I am as I've likely talked about before the type of person that I try to not stress over what I can't control to much (other than the car stuff, I have to admit that all got to me quite a bit) or I try to handle situations as best I can to control stress. In any case I just said to her that Dr.E seem to believe it was genuinely concerning changes to the mitral valve but that he also felt if we could better control heart rate we might be able to improve or prevent from worsening the pressure gradients through this valve and buy us time.
We did turn the TPL Shunt down to it's final setting (30) which means both shunts are now set as low as they can go which isn't a great thing as far as having no wiggle room but good that we had this option for now... Because her office got a different programmer they are back to having to do X-rays anytime we re-program the valve, with their old one Dr.Bragg or her NP could just re-program the valve(s) at multiple positions and we where able to avoid the need to X-ray and check setting position. Due to this re-programmer working a bit differently and being a bit more difficult (new isn't always better we've all decided!) last time and this time we had to do repeat X-rays, but we got it! - so if you see a glow it's probably just me! :)

One thing Dr.Bragg brought up was she did a talk a few weeks ago on Intra-ventricular use of baclofen and she commented how this made her think of my case and come back to thinking about/wishing there was a way to access the ventricular space with either Aldurazyme (wouldn't replace the 4 hour infusion but wouldn't it be nice if someone studied this to see if it where an option in helping Hydrocephalus in the MPS I pt?) or some other drug to better help the pressure issues. I don't think there is really an answer or way but sure would be nice! I mentioned to her how PTC Pharma has their drug 'Ataluran' which is being studied in DMD and CF pts with atleast 1 non-sense mutation and how this drug was also studied in some of us MPS I pts through skin biopsy analysis. The drug is a powder but would be given orally and some of the docs think it may cross the BBB. She mentioned sometimes drugs can be reconstituted to be used via intrathecal but isn't really something on the horizon regardless we'd be able to try and anyways not as if rare disease pts and their drs can just try random drugs. Might be nice sometimes though b/c I sure feel like as good as these 2 shunts are they are also so far from perfect!
I just cant help but wonder for the 999th+ time why no Researcher(s) take an interest in the Hydrocephalus issue in MPS I pts (or any MPS types) and want to study it more, write up about their pts, etc? I wish there was more published data or articles for all of us to access!!!! Maybe someday I can convince Dr.Bragg to share what she's learned? I don't really know what her area of interest is and she seems genuinely to care about helping w my issues but at the same time I don't think rare diseases/rare Hydro issues are her thing (I've never really asked) so who knows.

Back in Fall my PCP (primary dr) had been looking over the Genzyme recommendations for MPS I pt f/up's and wanted an Audiology fup to be done given this has been 3 or so years now and prior to when I started seeing her . I've had the referral for months now but finally scheduled this for later in March.. Wouldn't you know though I finally schedule it and other things come up! I've been working w UofMn to re-schedule the studies for their testing for some months now for this year (I've missed the past 2 yrs for them) and originally we had been looking at right before or after the World Meeting. Now we are looking at and planning for the 3rd week of March w Neuropsych testing, fMRI and Neurosurgery (Dr.Guillaume) will reset both shunts after the MRI.
Endocrine (Dr.Polgreen) at the World mtng had found me and asked if I would be interested in participating in her studies especially given they are so interested in anti-inflammatory meds and this is something I had been on in the past.
My Endocrine dr has talked to her in the past regarding some of my Endocrine-hormone issues and I know she knows quite a bit about the MPS impact on the Endocrine system so I thought it would be interesting to talk to her more. Other studies will include a gait analysis study (actually not entirely sure what that is) and I believe there may have been one other test they where considering. The Neurosurgeon who will reset both shunts is one whom I had spoken to numerous times when formerly in Dr.Dickson's IT study 5 or so years ago and when Dr.G was still out at OHSU (Dr.D had been working w/him as she suspected I was having shunt issues and was when I dropped out of the IT/didn't join the continuation study). Anyways he is now at UofMn and when a year or so ago Dr.Bragg had asked if I would ask around to see what other Neurosurgeons/drs in the MPS community thought about our issues, he was one who responded and had rave reviews of Dr.Bragg and her team (nothing I didn't know about her but nice to know that other drs think so highly!)

As far as the Audiology Appt. i'll just reschedule this which isn't that big of a deal and nothing very urgent anyways.
Otherwise mainly for appts things coming up other than Cardiology which I believe is the 9th, and UofMn which is I believe the 18th or 19th-? things include the usual ERT every Monday and INR re-check on Monday with also updating Cardiology what HR is now on the upped dose of Nadolol. Neuro-Opthalmology at UW is the same week as Cardiology.
Non-appt wise we have book club at Church Monday night, group Sunday School later in March (in addition to the sun's I teach), our Sun School Teacher's mtng the night before I leave for Mn and Zan is spending this Sat. night + I am meeting 2 friends for dinner Fri night. Fun things that I enjoy and make the medical stuff do-able. =)
Many other things will add on here and there but I should mention next week is my b-day, Happy 31 to me (and my brother!)! =)

I think really this is about all since I just updated yesterday. I'll post again when there's something else new or something worth writing about.
Thanks for stopping by,


Tuesday, February 25, 2014

Cardiology updates

Jacket from the National MPS Society I had embroidered last year w purple ribbon and the other designs.

Not sure how I hit the enter button to publish this but I did so it wasn't really a completely finished entry (oh well I guess), I had planned to finish Thurs after a Neurosurgery Appt.
I guess i'll just do a separate entry then, maybe..
I don't think I wrote this last week but INR (blood thinner level) was back in range at 2.2 last Thurs when measured prior to ERT (infusion) and prior to the Cardiology Appt! So dose at this points remains at 6mgs 5 days a week and 8mgs 2 days a week. I re-test next Monday while at ERT again, which gives me 1 1/2 wks between INR testing for the first time since the last surgery 5 wks ago!

I talked to Cardiology today (Monday) per their wishes and expressed my mild frustration at the Nadolol and how I feel it makes me feel tired and not that great (apart from the headaches which have also been worse on/off.) Nancy, the NP's recommendation was to try taking the Nadolol in the morning as this is a long acting med and so their thought is the med side effects may not set in till later in the day after I am home and near to getting ready for bed anyways. Today this did seem to make a difference (the first day) though I will also say heart rate has still been humming along at a pretty great clip.
The NP I work w alongside my Cardiologist called me back yesterday as she typically does (she is who monitors INR and since the 2 OHS's has took the place of Dr.E's regular Nurse for pre-appt questioning, etc.). Per Dr.Earing they want to try going up on the Nadolol but recommended I try taking it in the morning as mentioned above to see if I then wouldn't feel more tired at night (which would be ok) since this is a long acting med anyways. Heart rate (HR) today (Monday) at ERT at initial vitals check and then an hour or so later was between 88-92 so no real difference yet at the 40mgs/day dose of new beta blocker. Dr.E would like the 80mgs (new dose) taken as a one time dose vs divided up in twice daily dosing, I guess bc it is the longer acting med. I am to call them on either Friday or Monday (actually in all honesty I can't remember why she said to call her Fri instead of Monday (was some reason) and if whatever that reason was didn't occur I otherwise was to let them know Monday how it is going. INR is re-drawn on Monday anyways while at ERT so makes sense unless some issue to just talk to them then once vs twice.
I can't remember for sure but I think she said they would consider adding something else or changing meds if HR hasn't come down enough (to the 60bpm range) so that was part of why I need to let them know HR either Fri or Monday along with any symptoms update.
One thing I will say is I think the Coumadin (for preventing blood clots in new heart valve) increases appetite so even though I don't feel great I still atleast have somewhat improved of an appetite so that is an ok thing I guess..

I've experienced a few extremely intermittent episodes of what I guess is dizzy spells over the past weeks - I think literally a couple in one day BUT both times that day AND today (mon) I was sitting down so it seems pretty unlikely it was BP related. Since then I haven't experienced anymore. Heart rate cont's to hum along (as mentioned above I know). Taking the Nadolol in the morning vs at night does seem to help some with the side effects though it doesn't seem to be having a real effect on overall bringing heart rate in to a slower range. I know this rate isn't that high compared to some but it is high enough that it is affecting heart rate function and concerning to Dr.Earing/bringing on the CHF symptoms again so i'll be glad when we get it down.
I guess that is it for now, will update other things after tomorrow apt or in next few days.
Thanks for stopping by,

Thursday, February 20, 2014

Cardiology Appt, Echo changes. Headaches..

Due to having intermittent symptoms of the heart failure like symptoms again on and off for the past week (started while I was in San Diego but VERY intermittent) I messaged my PCP to ask her opinion if she thought I needed to do anything. She in turn recommended I either see her and she would order an Echo "in the next day or two" or she recommended that I call my Cardiology Team and let them know as she was concerned about a clot given the INR had been out of range for so long.
I did call Cardiology on Weds finally and they wanted an Echo sooner than my next appt and to have me come in to clinic after (Echo's are done in the same clinic as the Cardiology Team).
The consensus is that there isn't a clot (a good thing) but the mitral valve is worsening and congestive heart failure symptoms are recurrent.
Monday I have to call with what the "heart rate at rest is" in order for Cardiology Team to decide if the new med switch (nadolol, a beta blocker replacing the current BB I am on) is working adequately or needs adjustment. Dr.E's goal is to reduce HR to at or below 60bpm but no higher as he is concerned the heart isn't getting enough time to rest in between each beat and thus not getting enough oxygen and working to hard which in turn puts excess pressure on the already moderately stenosed (narrowed) and leaking mitral valve. He did talk about this could be b/c of a relatively common issue they see in post-OHS pts where the nerve signals in the heart can get nicked during surgery and need time to repair (not sure if I got that completely right) and/or the heart rate just becomes much faster after OHS due to the stress of surgery and re-modeling occurring. Again not sure I got that completely right.
Dr.E and Nancy did mention possibly upping the Lasix (not high on my awesome list) or adding Digoxin which works by reducing how hard the heart pumps (but acts differently than how the Nadolol works at slowing the heart rate). I follow up then in about 3 weeks.
The goal of this new beta blocker replacement is (as mentioned above) to try and slow the heart rate and the recurrent heart failure (an issue I had problems with prior to the 2 OHS's last Fall/Summer) as I was considered in stage III/IV Congestive Heart failure then. Slowing the heart rate in turns means more time for the heart to relax in-between each beat and the hope would be that we can keep the mitral valve from getting worse and thus needing a 2nd valve replaced for some time. Given all the scar tissue from the 1st 2 OHS's a 3rd heart surgery would likely be even more difficult per Dr.E and not something he wants to have to do for as long as we can manage. When one has 2 mechanical valves your INR (blood thinner level) thus has to be higher at 2.5-3.5 instead of my current 2.0-3.0.
On a good note, a little over a month since the last shunt surgeries my INR was finally back in range today at 2.2! I'll re-check INR again a week from Monday (usually my infusion nurse just draws it while I am at ERT and then she runs it across to the actual lab at Children's.

This is a table of what the various measurements of Mitral valve stenosis means (in my case there is stenosis (narrowing) and regurgitation (leaking of blood backwards).
The degree of mitral stenosis is determined by the mean gradient of the mitral valve area Mild mitral stenosis <5 mmHg >1.5 cm2 Moderate mitral stenosis 5 - 10 mmHg 1.0 - 1.5 cm2 Severe mitral stenosis > 10 mmHg < 1.0 cm2

Headaches have been an on/off issue this week, as if the heart symptoms haven't been enough! The usual worse at night (but this time REALLY bad by mid-morning) and then improve after being up for a few hours but worse again if I lay down for any reason such as for the Echo today. Thankfully in the case of the Echo it was only an hour and symptoms where back to pretty much normal by the time I got out of my Cardiology Appt and then stopped at the Pharmacy.

This hasn't been the best week as far as feeling great! I guess you just have to keep going fwd though and do the best you can!
Thanks for stopping by,

Monday, February 17, 2014

"You'll get through this", God is good. WORLD Meeting.

Last week (2 wks ago) I had the botox at UW Rehab Med which went ok and something I hadn't thought of ahead of time but the Coumadin (INR) level being to low was actually a good thing in this case as I had minimal bleeding after the series of injections. I am to let my PMR dr know this week if it helped or do I think it needed a higher dose/more injections. Really I think the one area that has been very uncomfortable is mid-back which is intermittently an issue for me (and for which I need to go back to PT) this area the muscles just get overly tight (which this dr commented on) and fairly uncomfortable.

I missed ERT last week and this week due to weather we are doing it on Thurs instead. I am not sure if Cardiology will be ok (hopefully) with my just doing the Labs then for the Coumadin level. I am not entirely sure but think it may be somewhat to low though closer to our target now.

Unfortunately I wrecked my car last week (driving in to the sun, the other driver was backing up in the road on the County Rd/Hwy and preparing to then back in to her driveway) which I had a little affect on the very muscle area which we did the botox on. This is the general area which I had surgery on some wks ago (the shunt surgeries) so between all these things I will be happy to re-start PT as that makes a big difference. This Physical Therapist does a hands on approach, manual therapy and for which my PMR dr really advocated I restart as she was taken aback by the muscle tension/tightness/almost like knot in mid-spine. It has been some 6mo or more (pre-OHS) since I've done this PT. The Cardiac Rehab PT had called to ask if I wanted to come back but I honestly think I get more out of the hands on PT (manual therapy) than I do the Cardiac Rehab and this is as well much closer.

Regarding my car it is totaled and had to be towed to the local tow yard where I live and then my Dad and brother took it to my brothers house who is stripping some parts off of it for his own car. Unfortunately one of the 2 brand new tires I had bought just the wk before was ruined but I have 1 new and 2 fairly new tires for the future that will fit my new (used, new to me) car which is an Olds Alero and I bought Sunday (yesterday). My other car was an 01' Grand Am. Gas mileage seems to be fairly similar between the 2 (around 32 for P-GA and 29 for the Alero from what I read online. I had purposely been looking only at 4cylinder engines due to wanting decent mpg.
I had some savings from my part time work w Gene Spotlight and as well have some other money so I was able to pay for this car outright.
Needless I am thankful I hadn't yet bought a ticket to go to Boston even though it makes me sad to almost certainly miss the Marathon now. Sometimes life stinks!
I'm sure I've written about this before but I often get asked how I deal w all the MPS/health stuff and I usually answer that you just do, what choice do you have? I don't think God choses purposely to make one person over another have a more difficult life so I try to just (as I've often said) take things medical wise a day at a time. At book club (church book club) I was asked last week "Don't you ever get mad at God?" and I guess I honestly could answer I didn't think so, or atleast not that I could remember but I do definitely struggle with some things sometimes (like any one of us!). Perhaps appropriately our book club book is 'You'll get through this' by Max Lucado.

The World Lysosomal mtng was good last week, I flew back from San Diego on Fri and had decent seats both to and from CA which always makes flying easier! I learned some, saw friends, worked at our Gene Spotlight booth in the exhibit room (we where signing up interested Researchers for potential MPS I grant proposals). I also had meetings w/my employers with Pharma people, other company Reps (met the Dad of another Lysosomal family and for which the movie 'Extraordinary Meaures' was based off his family. That was kind of cool and he seems like a very down to earth type of person who just wants to see better treatments for his 2 kids and for our disorders. He is a CEO at a Pharma company. I also had some spa time (massage, nails) as a "treat" from my employers for our work and dinners which where lovely. I am always happy to be home but I do miss the warm weather in San Diego! It is (big surprise) snowing like crazy here today so missed ERT again but tentative plan is to make it up Thurs.

I guess really there isn't a lot else going on, will update sometime soon.
Thanks for stopping by,