Welll if there where a theme for this week it would be I keep coming back to how after all these years after diagnosis and the years before that of so many drs I still hate asking for help. I still dislike bringing up symptoms to my providers and I still have a really hard time calling providers to ask what they think I should do when I dont know what to do or know what to think. I posted s/t about this on fb the other night and got some insightful replies from friends (MPS) who themselves deal with alot of providers for their own kids. I dont really know if im ever going to be really comfortable asking my providers questions or calling up and not getting jitters when I am asking for advice. I know (think?) in my last post I commented that I have gotten more comfortable asking questions, and I do think I have but I literally get shaky feeling (I always joke if I got nerves about my actual health issues like I do about having to ask or admit when things arent great id be in a insane asylum) bc I will put off making calls for hours or days or as long as possible before I will call say a providers secretary or nurse and ask them something. Not intentionally to hurt someone but I often wont admit when im not feeling good and while there are some people who are fantastically perceptive (a couple of my providers just have this way of knowing as does my nrsgns nurse but otherwise I likely wont tell how im feeling bc either I dont want to talk about it or as ive mentioned before with family and friends I just want them to be family and friends and to be an escape.
I just dont like asking people for help and not bc I dont think the other person wont have good advice or wont know how to help or because they havent reassured me many times that I should call or ask questions but bc I dont want to be a burden to people whether it be family, friends or providers. There are so many big things that happen within MPS that I especially struggle with the little things that im not sure if I should bring up or if I should see someone about or if its say a different neurologic issue but the shunt is so on-going do I still bring up the other thing(s)? I know the answer is yes but I still struggle to do it and often wont.
I know I talk alot about the health issues and not alot about the rest of my life but really that is what this blog was intended for, for me to chronicle my experiences and feelings and the ups and downs and almost to have a record to come back to when I cant remember something. (I cant tell you how many times ive come back and looked to see when a particular shunt surgery was or when the Port was put in or when I did one thing or another. It also is intended to help other people understand MPS from a patients perspective and help families if they wish especially with hydro in MPS families as this is a disorder that so little is written about in our disorder and is so misunderstood by many. I thankfully found a good neurosurgical team and so while my experiences have been a winding rollercoaster I still think it is information that can help other families. I also really want this to be for other MPS adults to realize that we are our own voice and advocate (cliche I know) and these issues like hydro DO and CAN occur in our much less common, much more rare attenuated-MPS I older adults classic signs not withstanding. I do hope this helps others and maybe even some doctor out there but really it is for me, for my sanity and a way for me to put a voice to what I am experiencing.
I received an email from Dr. Paige Kaplan's (CHOP) Genetic Counselor yesterday and they are nearing finishing the MPS I skin biopsy studies using ataluran the test drug. They are now asking for urine testing to do GAG testing for a 1 week 1st morning void to use as a pre-human study data. Sara mentioned that for the actual skin biopsies the results have been mixed with the drug working well in some skin samples/mutations and not well in others but they dont know yet whose it worked in. As for the actual study they are thinking they may open it up (the drug-human trial) first to those of us who participated in the actual skin biopsy testing/study phase and this is being planned. (planning for the actual study) No dates are being released yet but Dr.Kaplan in an earlier email had said she suspected by the end of the year so im not sure if she will change that date to earlier. IRB still has to be written and approved plus arranged. This drug if it worked would be used in conjunction with the ERT infusions and not as a replacement - the drug is thought that it may get in to the brain, heart and joints.
As for actual issues going on - I havent been sleeping much - in the last week I havent fallen asleep since I think thurs before 3 in the morning and since sun have been waking up with the same dang symptoms from shunt. I called my neurosurgeons nurse today and asked her if I could move my appt up from 2 weeks from thurs to next thurs and she asked me why we where not making it this thurs? IIve already rescheduled an appt I have this thurs several times due to shunt issue and feel bad doing it again so just going to deal with it till next week since only nights and mornings are bad so far. I also told my sister a few weeks ago id watch my nephew tues, weds and fri next week form 6:30-2 weds and fri and 6:30-12 tues (and maybe thurs) and drop him off at and pick up from his 4K class and really as bad as I feel in the morning (really incredibly bad but i'll just get up a couple hrs before I have to be over there and then Z doesnt wake up right away when im there either). I dont want to not watch Zander bc no matter how I feel id bend over backwards for that little boy to make sure he's happy and I know it makes his day super happy when im there. (the other day I got the sweetest wake up call from him and he was inviting me over to his house as my sister-in-law and niece where also already there.)
Otherwise my Cardiologist is super great and as much as I hate asking him or any provider for help he is trying to figure out the best way to help manage a new symptom (a few months but hadnt said anything till now bc I thought maybe it would go away or was nothing and maybe it still is). With him he'll communicate easily via email and then either respond with his decisions either to run a test, repeat a test, come in for a fup or email with an idea or he/his nurse will call. He's been on my team since the beginning of dx and along with one of his patients is co-founding the WI-ACHD group for his adult congenital heart patients to bring patients with ACHD together which has been a fun new project.
So I know ive mentioned a few times here briefly about tentative dates for going to UofMn for the neuropsych-MPS I longitudinal study (on-going, yearly) and the date keeps changing mostly bc of my shunt surgeries. So I was talking to the Neuropsychologist there Dr. Elsa Shapiro about some changes they are making to their protocol for us MPS I programmable-shuntee pts in which they have a new neurosurgeon. I hopped on the UofMn website and lo and behold the new neurosurgeon is none other than the neurosureon I was referred to/my Intratehcal study dr worked with while I was in the IT study 3 1/2 yrs ago and when Dr.Dickson was suspecting I had beginning shunt issues. This nrsgn came from OSHU in Portland, OR and I had spoken to him over the phone and via email several times + he untimately referred me to my current neurosurgeons colleague (this was about 1 1/2 yrs before my current nrsgn would come to the hospital) and that lovely experience. I really had the sense talking to this neurosurgeon then that he knew alot about lysosomal diseases and was/could think outside the box. While I wont switch from my neurosurgeon as she and her team have been amazing it will be interesting to meet this other nrsgn at UofMn! (they are changing the IRB so the new doc can re-program their programmable shunt patients after the fMRIs are done so that they then dont have to send us to UCSF to get the imaging on top of going to see them in Mn. I beieve at UCSF it was a Dr. Peter Sun that had been re-programming the VP shunts of their MPS I pts after fMRIs where done at his hospital.
On top of the new neurosurgeon they are also actively recruiting a new Neuro-genetics dr (this was the speciality Dr.Charnas had before he went to Shire btw) - this would be fantastic as really neurology wise (neurologic-non surgical) my care has never quite been the same since Charnas left and he was good at helping me figure out when to get MRIs, diagnosed my hydro, managed the spinal cord compression in between visits with Dr.Schwender (Ortho-spine) and overall just helped bring my care together really well - he and my former PCP worked so well/communicated so well together and ive never had that since. He is also who thought I should do the IT study when I did and helped facilitate that initialy back then. He has been gone from UofMn since Nov 08' literally the last time I was him was on my decompression surgery for neck - election day 08' and the other days that week and since have ran in to him once or twice at meetings but not actually spoken to him as we where going different ways. I know some of my providers from then commented over time that they missed having his input - most providers since then have changed for various reasons but care still hasnt been the same. Thankfully my neurosurgeon was more than willing to manage both the neurosurgical and non-neuro-surgical aspects of the MPS and that has made a difference + she has a colleague who appears to really understand our MPS differences whether he had saw MPS before I dont actually know. (I met him the day after I had been admitted by ambulance and was quite well out of it). I still think though even having someone at Mn who could help advise us maybe on things like autonomic (who knows they may not even have that knowledge but can hope) and just maybe give insight on some things maybe we could be missing. (what I dont know and I would talk to my neurosurgeon before just adding someone else to the team. I respect her and trust her judgement and try not to step on feet. Keep your fingers crossed Mn gets this Neuro-genetics dr they are recruiting! I tihnk more needs to be understood in both the attenuated and severe MPS I neurologic population and its a shame more isnt studied on it so more drs can learn! I was finally lucky enough to get my nrsgn who understands the differences in hydro in lyso diseases/MPS and want more families to not have to go through the years I did before they find someone too!
If your wondering why the title of this entry, I just saw that somewhere and liked it and is true. Sometimes with care I wish providers would not think a zebra and instead think 'hey this might be a horse!' (issue ie more common) or the opposite 'hey this really might be another one of these fantastic zebra issues!' Not that there is really a right answer bc with rare diseases there is no easy answer and no right way to manage a patient I dont think. Just as patients I suppose sometimes we wish things could be done a little differently or a little more smoothly. :)
All for now -
Erica
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