Wednesday, April 29, 2015

Do you ever wonder what they think...

Do you ever wonder if going on about life despite not feeling good affects the care you receive? I do and yet I don't know that answer.
The reason I've been wondering this is I guess b/c of having been in Boston the other week and with going to Boston/Providence this week (sort of an last minute trip) and wondering do drs. ever not entirely believe pts. (the symptoms they claim) if their drs. know they con't to try to stay busy despite? I don't know but do wonder.

I know with Dr.Bragg she seems to believe me (?) and tries to help me control my symptoms as best she can by tapping the VP Shunt and removing CSF (to relieve the L leg/spine nerve irritation) and headaches temporarily.
This removing pressure although the headache relief is very short lived, honestly in some ways the leg nerve symptom relief b/c it lasts longer is wonderful and I greatly appreciate her trying to help me.
I know without a shadow of doubt that Dr.Bragg would NOT have to do these intermittent/periodic taps and in all honestly the drive to Madison is kind of a pain in the arsh (2 separate trips this wk for 2 different reasons on top of 2 trips to Milw. this wk.) but at the same time well worth the temporary relief and especially given I am traveling this wknd.
So why do I wonder what drs. think about pts. and their symptoms and yet pts. continuing to try to live? Honestly, I don't know what has made me think of this, I guess maybe just b/c in some ways it has been a bit difficult of few days and between the headaches/leg symptoms and then the intermittent SOB and heart rate it all is a little wearing on a person..
This last wknd I was with my Mom, Sister, a friend of my Sisters and Zander garage sailing (sp?) and I am amazed sometimes how much energy I used to have or feel like I used to have for this sort of thing. I think I spent 1/2-3/4 of the time just waiting in the van b/c it is simply tiring and wears me out so. =/ Honestly I still had a good time and Zan spent Sat night., which he is not at all hard to have over so it was still a good wknd.
I was back at Sunday School teaching Sunday (one of my fellow friends and teachers is taking my class this wknd) which was nice albeit there to so tiring b/c while not at all hard it's just one more thing in a day! I wouldn't give this up for anything, I love these kids but it can get to be exhausting at times.
I am hoping this coming wknd flying to Boston and then the Marathon Sun in Providence is ok! I know i'll be without a doubt exhausted by the time I get back but is sometimes worth it. I am really looking fwd to meeting my 2 runners (both are from Tx) and seeing Jessi who ran at the Boston Marathon, was my runner the past 2 yrs and is also (obviously) on our 'Running for Rare Diseases' Team as she will be in Providence with the rest of our Team cheering to..
Thankfully my Cardiology Appt which had been changed from Thurs to Weds this wk in order that I could see Dr.Bragg on Thurs (she was willing to see me on her non-clinic day otherwise) was switched again to next Weds. Dr.Earing's Secretary had called this wk to see if that would work ok for me.
I am not entirely looking fwd. to this appt (not that 1 really looks forward to any appt!?) as heart rate has been slightly on the ridiculous side since we switched the beta blocker to a calcium channel blocker.
HR's have ranged from high 80's to mid-120's and at times like earlier tonight in the 190s. There is an app that came pre-installed on my phone (an android) and so I can track heart rate on this and even when I've not necessarily noticed heart rate being high/fast it is never below high 80's and often times has taken me by surprise being in the 120's.
I don't make a point to track heart rates normally but have been periodically over the past month for my Cardiologist given the Event monitor didn't go to well (reacted reallllyyy badly to the leads) and this app keeps all recordings in it's system. Given we started the new Calcium Channel blocker a month ago using this app seemed like the next easiest way to let my Cardiologist see what heart rates have been like w the new med and cardiac meds I am on in general.
If there is anything noteworthy to update on after tomorrow's appt with Dr.Bragg I will do so here or otherwise will update again sometime next wk. On a really side note it was 3 yrs ago a couple days ago that Dr.Bragg 1st put in the 2nd shunt. I know it's not been perfect and YES I wish the 2 shunts together worked better BUT I am grateful these 2 shunts together has been better than before!
Thanks for stopping by,

Thursday, April 23, 2015

Genzyme-RfRD Marathon wknd, Boston Children's Appt.

Needless to say someday I will for real learn to save these stupid posts as drafts before I try adding pictures or doing anything else! Usually the computer periodically saves as I am typing an update but not the case tonight and so 30mins worth of update/almost complete entry re Boston Children's Appt, Boston Marathon wknd, upcoming Providence wknd and headches issues is down the drain. GRR!!!!
So here is a shorter but definitely not sweet (because I am aggravated having lost the other update) version of this past wk!
I flew in to Boston Thurs, had dinner w my Genzyme Case Manager Thurs night (she met me at my hotel) and Fri I had an Appt with the Metabolic Genetics dr at BCH. I saw him in conjunction w a colleague of his Dr.Cox (who it turns out I've talked to before, this dr used to work at/for Genzyme when they where formerly partnered w PTC Therapeutics on the Ataluran drug before that partnership broke up). Anyways that Appt went well, a lot of info.
Dr.Bodamer plans to call and talk to my Cardiologist re the Elmiron as he feels it could help but he does not want to just start it without making sure Dr.Earing is ok with it being used. He also had emailed pre-appt that he had some concerns/interest in my cardiac issues and so he carefully reviewed the records I sent to him. He is interested in doing further Genetic testing to see if perhaps there is a separate underlying underlying connective tissue disorder that could explain the severity of my heart issues as he made the comment he has never seen another MPS pt w the degree of heart issues that I have (and he's followed quite a few pts over the yrs both here in the US and when he formerly worked overseas.
Non-the-less thinking back on this in talking to Dr.Bragg about it as she was asking me questions about the appt and wondered if the overly thickened/tough skin she encounters w every shunt surgery has something to do w whatever Dr.Bodamer may be thinking. I am not clear on exactly what he thinks may else be going on or if he is even certain other than he feels there could be another separate disorder separate from my MPS dx.
I do know and said as much to Dr.Bragg that thick, tough skin is a issue across the board for MPS pts. Typically the skin will soften up as does the hair once pts start ERT Infusions BUT for those of us who started ERT much later the infusions can't reverse all of that storage/damage and of course ERT does not get in to all the tissues/bones/areas of the body.
Dr.Bodamer at the Appt said he would like to set up and do further testing as he feels this could help prevent the same severe failure we had w the 1st heart surgery with my 1st aortic valve/konno procedure (aortic root enlargement) when we have to replace the mitral valve in the future. I am a little curious what he and Dr.Earing come up with regarding this topic and if Dr.Earing will agree with his thoughts. I do know in reading the MR from the 1st Geneticist I saw at UW many yrs back and prior to seeing Dr.E / prior to the MPS dx that the 1st Genetics dr had thought perhaps there could be more than 1 underlying diagnosis.
In addition to this at the Metabolics Appt at BCH I learned I won't be eligible for the Ataluran studies as any MPS I pts who are on Coumadin (blood thinners) will automatically not be candidates due to both drugs working on the same receptors. Obviously once Ataluran where FDA approved down the road I could take it but PTC the company wants to minimize problems occurring in any study so they will take precautions to enroll the best, least risky pts. to try and get the best results. This was definitely a bummer to hear!
I did learn this same doctor is working on a similar drug that is being privately funded (by the foundation I work for) and Dr.Bodamer felt strongly that may go to trials yet this summer. He feels August though I am fairly skeptical. I asked how he thought it would be able to go to studies so much quicker when Ataluran-PTCs drug which has taken so long and he said bc it is privately funded they have less hurdles.
He and colleagues are in the process of getting an IRB set up at BCH now and the other non-hoop is they are working on a better flavoring as it is a powder. He said to me at the end of the Appt "I know you had hopes for the PTC drug but I really feel strongly this other drug could help you and you're #1 on my list of potential candidates" (do all drs say that to all pts though?!?).. Non-the-less he really does seem like a trustworthy guy and a good dr I am glad to now count on my Team so I tend to trust he'll atleast keep me in mind for that study..
Otherwise Dr.Bodamer plans set up testing in the no-to-distant future I guess once he looks in to more about possible other underlying diagnosis. Additionally he I guess was going to call Dr.Bragg as he was interested if she was planning at some pt to draw off CSF to test for any reason if she would also test GAGs in the CSF for him. He would outline what he needed and how it should be done/or send her the appropriate supplies I guess.

He was a little curious about the endocrine issues and wanted to talk to his Endorcine dr. to get his drs feel on this issue in my case. On this issue I trust my dr implicitly as she works directly with the Neuro dept. at FMLH and she is extremely well liked in the medical community and very knowledgeable on Neuro-Endorine issues. In addition I know she follows other pts who've had hormone issues secondary Hydrocephalus issues. And to top it off she's been able to demonstrate numerous times in the past that my hormone levels go wonky and autonomic system gets a little off when we are dealing w shunt issues/pressure. Dr.Bodamer was a little skeptical pressure would have caused the cortisol issues.
One other thing Dr.Bodamer is planning to outline all his thoughts (which where many!) and send his note to me and then to my PMD and I think to several other of my Providers. In it he planned to outline exactly what Genetic testing he felt should be done on a yearly basis as he wasn't thrilled about my current Genetics drs very laissez faire attitude towards monitoring the MPS levels. I don't think in any way Dr.Bodamer is trying to take over my care (though I told him as far as genetics care decisions I now count him as my dr and will defer to him to work with my Providers, the other local Genetics dr is pretty much just to write the order for weekly ERT infusions as they don't do anything else anyways.

My PMD commented back to me in a MyChart message once she receives his clinic note/recommendations she may suggest seeing a different Geneticist (than the 1 I see in Milw) who has quite a bit of experience with connective tissue disorders I guess and for which she has several other pts she's referred to.
It was definitely a good appt and 1 I don't regret making as I think Dr.Bodamer is well tied in to potential MPS I studies and additionally VERY knowledgeable on issues related to MPS I pts. On a good note he was pleased with the care I have received as far as what testing is done/monitored by other drs of mine from Dr.Bragg doing periodic MRI/Xrays to labs are well followed, cardiac testing is done and well followed, PFTs (lung function) is well followed and Sleep studies have been done periodically by my Cardiologist. He really didn't have anything to add MPS to all that other than he is going to recommend the closer monitoring of ERT/MPS levels.

Marathon weekend
Marathon wknd was great and the best part was I get to do it again albeit in a much shorter fashion a week from Sat. when I will go to the RfRD Team Marathon in Providence! In all actuality as excited as I am to get to meet my 2 runners and cheer the rest of our Team on I am downright EXHAUSTED from this last week and have been sleeping like s*** so I hope by next week I am caught up and feeling a little better headache wise!
I really can't say enough about the friends I stayed with, they have been on the Running Team with me as well the past 2 yrs but in all honesty I didn't feel like I knew them exceptionally well. I feel like this past weekend the 3.5 days I spent with them they became just another part of my rare disease family and literally in that weird way that friends in the rare disease community do like an extended set of Parents.
No one would ever replace my own parents but Anne and Ed are truly great and I LOVE their boys! Their middle son has a dx called 'Congenital Hyperinsulinism' (CHI) where you are born with dangerously low blood pressure but the boys pretty much just like having my nephews around! =)
Apparently Anne could tell on occasion I didn't feel all that great as she would say to me "I'm just going to be mothering you, don't mind me". This was both funny and sweet given in reality we've not spent that much time together and really only see each other 1x a year and this was my 1st year staying with them! I appreciate that she cares though. =) Just another of those remarkable things about our Rare disease community and most especially our Running for Rare diseases community, you all just become an extended family and unlike with people who totally don't get what having a rare dx means these families/friends just get it even if they are dealing with completely different disorders!
We had a Team (Patients/Families and Runners) reception Sat night at Genzyme Center and then Sun I took the train in to Boston to meet an old friend of mine (formerly on the MPS I Marketing Team at Genzyme before the Sanofi-Genzyme merger and round of layoffs. Was really nice to catch up w Marie now that her clause in her termination contract is up and we can see each other and talk!
After meeting her I had lunch with Jessi who ran on my behalf the past 2 yrs which was also nice. Sun night I don't think I did much, I was TIRED! =) Monday of course was Marathon day which turned out to be cold, cold, COLD with rain, high wind and weather in the 40s and overcast. We had canvas tents (the type with the openings on the front/ back/sides) so atleast we could stand out of the rain while watching the runners. In all reality to although cold it wasn't bad just my fingers/hands where really, reallllllyyy cold! Our runners by far I'd say had it worse given they had to run in it!
I took the train back in to Boston from Wellesley and flew home Monday night. Neurosurgery Appt
I saw Dr.Bragg today and she took off some more CSF to give a little more short term relief. She asked me how long the symptom relief lasts (headache are back within a few hrs/usually by middle of the night, leg symptoms for whatever reason almost as if taking a little pressure off of them calms spine-nerve irritation for a bit longer, generally a day or two. I know it may seem like why would you go through a shunt tap (needle inserted in to the shunt to drain off fluid) for so short of relief period BUT that relief is sometimes just what I need to re-gear back up to deal w these headaches and symptoms all over again till the next appt.

We may adjust the shunt settings at this next Appt next Weds in addition to removing a bit of CSF again. I wasn't sure where our settings are at but Dr.Bragg said 40/40 for both shunts she believes right off hand so we don't have a lot of room for lowering. I CANNOT even begin to explain how bad I wish we could figure these headaches out and get back to say last Nov-Jan when everything was just "better"! Not perfect by any means but certainly better! Dr.Bragg again today joked she wishes there was a way to create a giant psueomeningocele (CSF fluid filled pocket) as we know from prior experience w the expandability/elasticity of these I felt sooo much better, I felt w this like I do when we have the external drain in place! It is sooo soo frustrating beyond what I can even begin to explain how these headaches and symptom are as they are continuously intermittent.

I just pray we can figure something out at some pt. I have to admit it didn't occur to me when she said it but when Dr.Bragg had the shunt tap needle in place she commented as she usually does how it was flowing initially though this time she said it was flowing better initially than the last time we tapped the VP Shunt. She commented as she was draining fluid that it was sluggish though so I don't quite know does that mean there is a partial occlusion or what does it mean when there is decent initial spontaneous (I guess) flow but then is sluggish as she's trying to pull fluid off/let fluid drain? Something I guess I need to ask her next week.

I just keep thinking at today's apt and overall I think I am a little nutty for going to Providence next wk for the Marathon (fly in to Boston and fly out of Providence) with these headaches and symptoms but I feel like I'd never do anything if I didn't do something I wanted to every time I felt bad? I feel like I have to live despite how I feel if that makes sense as best as possible..
In any case, thanks for stopping by, definitely a fun albeit very tiring past week!

Wednesday, April 15, 2015

Appt with Neurosurgeon (kind of amazing); On to Boston it is.

Saw Dr.Bragg today which went well, she made the comment that the VP Shunt seemed to initially flow a bit easier than last time which is good. She has always (as do I) believed there is an intermittent occlusion affect that goes on ie the CSF (fluid that circulates in the brain and spine) builds up and once to a certain level which in my case is not very high (the settings the valves open and drain at) then the 2 shunts drain and I get temporary relief.
In the process of the shunts draining and getting relief though it is more than likely my ventricles collapse and so in order for the shunts to drain again the next time the pressure has to build up again in a repeat process causing intermittent headaches and thus the secondary symptoms. This overtime leads to the partial intermittent obstructions and then eventually partial or complete obstruction with still intermittent relief.
Thankfully today she was able/willing to see me outside her normal clinic day as an add on to her schedule (she is amazing) and when I last saw her, last week she made it so I could see her Weds (today) in order she could tap the VP Shunt and try to take off a little CSF (fluid that surrounds the brain) to give a little temporary relief for atleast a small bit of the time I am in Boston.
The tap again took quite a period of time lasting I would guesstimate 15-20mins which when the shunts are working optimally a shunt tap typically can be done in 5 or so minutes if I am remembering other ones right. I am glad and thankful she is willing to take that time out of her schedule to do these taps so we can avoid surgery AND bc she is trying to help give me relief for when I travel. I don't know a lot of drs. and especially Surgeons who would do little things like that just to try and help their pt. have a better trip! Like I said she is amazing =)
If someone had asked me 4 yrs ago if I thought I'd be in this place with her as my Peds Neurosurgeon AND she still be so open, honest, kind and willing to help/listen I don't know if I would have been confident it would be like it is and I can't say that I would've been confident she wouldn't have given up!
Above all and always so endearing to me is just that she truly believes me and back when I first saw her that 1st time, when she told me that her Partners opinion wasn't going to weight in to her care of me (and it hasn't) she has always stuck to her word. There have been times she's gotten his advice re my surgeries or he's helped her with my surgeries but she genuinely makes an effort to be the one to be there.
Today we where talking about something and she brought up (in general) as an example my experience w/those past Providers I've seen who haven't believed me and she commented something like why would you as a patient want to make something up and instead she to knew/knows it's usually that the Provider not believing the patient is often the Provider is uneducated on whatever issue that Patient is presenting with.
In my case it was most often the Hydrocephalus, the fact I "looked normal/good" and that my ventricles weren't enlarged meant to some Providers I couldn't possibly be having issues and/or they didn't feel I had needed a shunt in the 1st place even though the drs who 1st treated me felt a shunt WAS needed.
Dr.Bragg has seen the times that have been very bad and she's seen the times that have been reallllyyyy good. She met me when I was having shunt issues BUT I'd be willing to venture that 1st time I saw her in clinic I likely didn't look that bad/to sick and she had no absolute reason she had to believe me. I am glad she did and has stuck with me though!
I think I was a bit skeptical back when I 1st started seeing her and admittedly there have been times over the yrs I've doubted but I also was so very grateful and I am still grateful!
I feel like in a way I have a dream team of Providers (and often get comments from other MPS Families on how persistent and caring providers of mine are/seem) but most especially I get comments about Dr.Bragg ALOT and how they wish they had someone like her for their kids care. It took a lot of effort, a lot of frustration and a lot of 'starting over' ie firing one dr or just plain never going back and searching out new Specialist in whatever area it was BUT I can now say I have a Team I genuinely don't mind working with! Ideally all patients especially patients with complex issues would have this.
Non-the-less so the shunt tap is done, i'll see her again next week to do another (to take off more fluid) and need to ask her more about these leg symptoms ie is there something that I could try that might lessen the symptoms. The shunt taps work AMAZING but these are only temporary and so if we're going to keep doing this vs a revision (which I don't mind) is there something we/I could do to help lessen the other (TPL Shunt) irritating the spine nerves? I admittedly do wonder is that continual nerve irritation causing any damage? Not sure but hopefully we'll be able to figure the shunts out at some pt in order to lessen that secondary VERY annoying symptom!
I leave for Boston tomorrow, a little nervous about feeling good but also excited and happy to get to see so many different friends; it seems hard to believe it was 2 yrs ago today the Boston Marathon bombings (the ones that where just in the news re the 1 brother was convicted on 30-some counts)occurred.
Take care, thanks for stopping by,

Article for Running for Rare Diseases re 2015 Team/Season:

Wednesday, April 8, 2015

Dr.Bragg, Neurosurgery Appt, VP Shunt tap, ERT Infusion. Next wk to Boston

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Global Genes Project article
Article I wrote for Global Genes - anyone who gets their blog emails/updates will have received this already. Although I am in the process of having my article for the Running for Rare diseases Team edited that to will be added at the bottom of this site when it is done and i'll share here (in a new post).

I did see Dr.Bragg on Monday asked asked her about the spine symptoms, why they seem to get so much worse when the VP Shunt is working imperfectly and she said she feels it is due to the TPL Shunt likely picks up more slack, ie fluid (CSF) when the VPS isn't working optimally. This in turn likely causes the TPL Shunt catheter to expand which likely then rubs against spine nerves and the chest wall. The chest wall symptoms are more fluid related I think as it is not at all like last yr where the catheter truly was rubbing against my chest space BUT it would still make sense that as this shunt does more, more fluid accumulates in the pleural space and between that and the cardiac (heart) issues it is likely to much for my body to handle and the fluid irritates the chest wall space.
The spine nerve symptoms like I mentioned above is likely just bc the catheter expands in size and bc spinal canal is already small it likely is sitting close to 1 side and irriating these nerves that then manifest in my low back/mostly leg in a referred pain/discomfort sense.
Dr.Bragg did tap the VP Shunt again and although she wasnt able to remove much CSF (2ml which isnt alot considering there have been times we've been able to remove as much as 20ml's I believe) BUT it does seem to be just enough that it gives the TPL Shunt a slight break (I don't understand it but won't complain!) as the leg symptoms where much improved for yesterday AFTER having been a horrible morning. Literally in the waiting rm and in the exam rm I was sitting with my legs up on the seat I was sitting on, straight out in front of me, leaning back just slightly as that for whatever reason seems to ease the strong pain just a little. It was AWEFUL yesterday. Standing for just checking in at the reception area which takes about 2mins my leg hurt already. It tends to hurt while I drive but no where near as bad as when I am standing.
Anyways so Dr.Bragg couldnt get alot of CSF off, she did say the shunt tap flow looked a bit better than last wk but she still feels we may end up having to do a shunt valve revision. For now given she knows I really want to go to Boston for the Running Team/Genzyme and Boston Marathon wknd activities she is ok doing periodic shunt taps and we'll do one again next Weds, the day before I fly to Boston.
Whiile the symptom relief won't last the whole time or even close to the whole time it will as Dr.Bragg put it "give you a little bit of time where you feel better" (she put it something like that, not those exact words) and even though the headaches will very likely be back by Thurs morning I should be able to sleep good Weds night, I don't fly out till mid-Thurs morning and I have a direct flight on the way there. I am not sure how next weeks tap will go but with this one she could get intermittent spurts of CSF and she made the comment "that's probbly how you feel" (again something like that) - which is true! The headaches are intermittent! That is the one benefit of it being just an partial (likely) shunt obstruction vs when I have complete shunt malfunction as although I don't feel great I atleast have 1 and basically a 1/2 shunts working and it's better than when just 1 shunt is working!
We'll decide on surgery again after next week shunt tap or con't to periodically do these taps and watch the valve ie see if it gets worse as far as does the reservoir fill even slower or does CSF become even more sluggish when she is trying to pull fluid off for shunt taps? Only time will tell. I think she said yesterday she felt we'd likely end up doing a revision; she kind of asked me if I thought we should do it, to which I said it was her call, I can tell her my symptoms but truly she knows whats best and I trust her decision making regarding all this. She's done enough revisions on me she'll know when is the right or best time! =)
] As long as the TPL Shunt is working and the VP Shunt is working some we have time to figure out these shunts and any potential revision. It is when either shunt completely stops working that we have a very acute situation that requires surgery within a day or so (as soon as INR/blood thinner level) can be safely brought down.
Ironically it was 4 yrs ago this past weekend not only that I got the Port-a-Cath placed, which was a few weeks before I first saw Dr.Bragg's Adult Neurosurgeon colleague (Dr.Brooks) and not all that long before I started seeing her then after either!
I hadn't realized it but 1yr to the day after I got my Port placed is the day Dr.Bragg and I decided to place the Lumbar EVD (external shunt) to see if this would perhaps give us an idea if a 2nd shunt would help our on-going issues. Obviously we did decide on the EVD and then 2nd shunt placement and although it's been perfectly imperfect having the 2nd shunt has made our shunt revisions in my opinion go from being very, very frequent to generally every few months. I realize to many that may not seem great BUT that 2nd shunt has been a blessing and if there where a way to drain more fluid in another way i'd jump up and be like 'hell yah' as we know I do best and feel best the more fluid I drain!

Cardiology, INR / Event (EKG) Monitor)
I talked to Cardiology the other day after INR (blood thinner level) which was a little low though this may have been due to I think I forgot a dose of the Coumadin last wk., I am not sure though. I take this med alone right before I go to bed whereas all the other meds I take in groups eithr in the morning or evening other than 2 afternoon doses of 3 meds. Anyways so my INR was not in-range at 1.71.
I also talked to them about the heart rate monitor given it has been such a pain both with the patched causing pretty bad breakdown of my skin (after just 8 hrs I have sores and spots of bleeding despite using the sensitive skin patches). Once I transmit these last recordings though thankfully they said I can just send back the Event monitor; Yay!
I see them the end of April to go over treatment decisions ie the new med, this event monitor recordings, symptoms, etc. and we'll make decisons ie up the Cardizen or something else. I do have a built in heart rate monitor on my phone so when I would do the event monitor recordings OR the days I couldnt wear the event monitor but had symptoms I would atleast record heart rate on this app and then it stores it and gives a timeline of each hr + date/time when each was. I sent that to them as well. Not sure it will be helpful but can't hurt I guess.
Boston / Boston Children's Hospital
Next week when in Boston as i've written before I am seeing Dr.Bodamer a Geneticist at Boston Children's Hospital, he just moved there a couple months ago so is in the process of getting his MA State license but wanted to accomodate my being in town already so made it work to see me. Since he may not have 'patient priviliges yet' his Nurse and Secretary emailed me yesterday asking me to send Med Records (I keep copies of all records but jeepers wait till the last minute!) and to say that he would be seeing me along w a colleague of his who is also got alot of MPS experience apparently. After a realllly, reallllllllyyyy long day yesterday (hour drive to Madison to see Dr.Bragg, shunt tap then 1.5hr drive to Milw for labs at CHW + then next door to FMLH for 5-5.5hr ERT Inufsion and then an hour drive home. I got home about 7:30 and was pulling out and scanning in medical records till atleast 10:30! Glad it's done though!!!
I get in to Boston Thurs afternoon and am planning to have dinner with my Genzyme Insurance Case Manager who will likely meet me at my hotel. Friday after my Appt. I am meeting my good friend who also was my runner the past 2 yrs for lunch which I am also looking fwd to! If I have time after the Appt and lunch i'll probably need a nap at the hotel before the friends I am stayin with pick me up around 5.
Sat morning the family I am staying with who is also on the running team-patient partner and I will go to the run that the RfRD Team is doing (21 miles I think) to cheer them all on and after i'm not really sure. I AM sure the wknd will be exhausting!! Sat night the RfRD Team hosts a dinner of sorts at Genzyme Center (the main location for Genzyme, it IS gorgeous!) and after if runners/patient partners are free to do as they wish.
Sunday I am unsure and then Monday unlike in years past there is no pre-run breakfast so all families and anyone cheering runners on will congregate again at Mile 14 in Wellesley for the race. I have to fly out at 4:45 so will have to leave mid-afternoon but plan to take the train or something like Uber out to the airport. My flight home is anything but great w a layover (flying there is a direct flight) and I get back late. I rescheduled my ERT Infusion for that Weds of that week so as not to miss altogether. A friend of mine is teaching my Sun School class the 19th.
I sm praying I feel good and excited albeit a little nervous for the whole week (Thurs/Fri) and weekend to come!
Stay tuned, Thanks for stopping by,
Happy Easter from 2 very cute little and not so little munchkins!