Saturday, December 30, 2017
Hard to believe but it is just 31 hrs away from 2018 - this year hasn't been a bad one nor particularly great (but really it hasn't been to bad) - I guess I am ready for a new year though. =)
Thankfully the past few months up till a few wks ago the headaches had been really good (and even now they aren't as bad as sometimes, just not as great as they where either). I think or am pretty sure the lumbar-CSF (Spinal fluid) leak is healed up and that makes all the difference in how I feel.
I don't really know what I'd hope for 2018. Maybe easier times with my Peds Neurosurgeon? Would be nice when I do eventually call them if my Neurosurgeon could just listen and try to help vs how it always is.
Otherwise just that day to day life stays decent and those I care for stay well also.
Dr.Polgreen and I, CA
3months or so after the TIA (Mini Stroke) occurred and I had postponed going back out to CA to do the final Humira (Dr.Polgreen) Study enrollment I made the trip, did the final needed tests and enrollment process and 1st injection is done last wk (right before Christmas, don't ask me what I was thinking!)
I /we won't know for about 3-4months (week 15 if I remember right) whether I am on actual Humira injection now or whether I am getting placebo injection every 2wks but alas atleast I am enrolled and it's started now!
Equally awesome is the Foundation I work for has agreed to fund 3 more Patients for this study so that is awesome to. There is actually fairly wide interest among families though it seems actual enrollments has been wider amongst the more severe-MPS I Hurler Families than it has been amongst Pts with my more attenuated form. That said for pain, inflammation and our arthritis like issues this is a drug/study worth considering!
Had it not have been for my cardiac issues I was offered a spot in Dr.Polgreen's original, 1st phase of the study but at the time I was dealing with heart and shunt issues and surgeries so declined/postponed enrollement till this last summer.
Heart wise / Amiodarone:
This has actually been relatively okay. Still plenty of the skipped/feels like my hearts tripping over itself beats but at the same time they occur less frequently (50% improvement?) and between this and the Ivabradine and some supplement doses + the other Heart meds I take it seems to maybe be helping in general a few things. I won't complain when it's relatively better. Not perfect and plenty of symptoms yet but some is better than no improvement!?!
NIH - Sangamo :
I honestly can't even remember the last time I updated or posted here but has been a relatively quiet (in some ways anyways!) few months and yet really busy to. I con't to work with Sangamo, the Biotech Company (doing the gene editing studies for MPS I and II) I spoke at in San Francisco a few months back on/off.
The Sangamo Patient Rep I mostly work with reached out to me a week or so ago to see if I would be interested in/willing to work with them in March for a Rare Disease Day related event at the NIH, hosted by the NIH for a Rare Disease Day Mtng. The mtng is actually 3/1, so not actually on Rare Disease Day.
I agreed to doing this if a few things work out, namely that costs are covered by the mtng sponsorts (Sangamo is figuring that stuff out). Honestly if it happens it will be neat! I mean how cool would it be to be a Patient voice speaking at the NIH (Nat'l Institute of Health) to Pharma and Gov't/Research people!?!?!
On the flip side if it doesn't happen I am genuinely okay with that to. Traveling these days is ALOT more exhausting then it ever used to be so while I enjoy it when I go to mtngs and Conferences I am also just as happy to be home in my own space! Whatever be God's will, will happen. =) I just have to say though it's an awesome honor that this Biotech/Pharma company asked me to be their Patient speaker for the Gene editing part and seems to want to keep working together!
I am working some with Regen-X Bio, another Gene therapy Company working on a treatment for my MPS I and have a Conf call set with them for later this next wk as they wanted to catch up and update me on what they are working on. Pretty neat. =)
I never do anything I do for any reason other than I want to help better educate Families and Providers/Researchers (in the MPS Community and in my own care) and I genuinely like helping Pharma/Industry better work to meet our adult-MPS Pt. needs. But in the process of doing this I will admit it is phenomenally awesome to (it seems) be making such a impact in so many areas (both to Families and to Pharma/Industry)!
Running for Rare Team - 2018 Partner
Running for Rare - NORD Partnership
This will be my 6th yr partnered on the Team? My runner this year works at Genzyme and knew a very little about MPS I as a whole when she 1st emailed me so it has been fun emailing and texting with her, getting to know her. My runner 2 yrs ago, Sarah and I had planned to partner up again this yr but Sarah ended up not being able to do the marathon so I will to this with Sarah and especially her daughter Madi on my mind that wknd. Madi has CCHS a sleep/ventilation disorder (I can't do explaining it justice but Madi requires a breathing tube and must sleep with that attached to a machine at all times or she will (If I am remembering this right) suffocate from CO2 build up.
I am REALLY glad my partner this year Cheri seems pretty fun and really interested in learning and how can she raise awareness for my MPS so I do think it will be a good year! Should be a fun time leading up to Boston!
I'll sign off on that note. - Thanks for stopping by,
Happy (almost!) New Year!
Sunday School Christmas Party