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!

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