Friday, December 26, 2014

Merry Christmas (Our Savior is born!), New Infusion site, MPS Conf.

First let me say I hope each and every one of you had a blessed and joyous Christmas! Whether you believe in Christ or Heaven or not I know the comfort and reminder of Jesus birth each Christmas although it took place so long ago is a great comfort and solace that my sins are forgiven and a better place not of this earth awaits me!
This post has been a week or so in the writing both partially while in FL and then on and off since then - so my apologies!
Although like any family we have our here and there arguments or disagreements I am generally blessed with great siblings (the majority who come around) and blessed to have seen all but 2 of mine this Christmas days. I am continually reminded especially how thankful I am my Sister and I remain close. I am thankful my nephews Mom lets him come to our house and he still wants to and that my oldest brother is again part of our tradiions which then means seeing my niece!

Today (last Monday) I started ERT over at FMLH which went ok, I had my own room and was able to sit in a regular desk type chair though clearly the Nurses thought I was a little nutty for wanting to spend 5+ hrs in that kind of chair vs reclined in 1 of the infusion chairs (which I find really hard on my back and neck). =)
My Nurse and the others where nice and despite a few problems (when the order was faxed over my Genetics Team hadn't apparently noted the total volume so the Infusion Clinic Pharmacist went off of what the Aldurazyme insert says which is quite a bit more than my normal (250ml vs my normal 150ml fluid volume total). They opted to slow the infusion a bit but I was still able to get home by 5:30 after starting at 11:00.
Probably the thing that will most annoy me is they do vitals every 15mins, every time they ramp up the infusion rate and then every 30mins which is TOTAL excess when you've been on the drug for 9.5 yrs and even the MPS treating centers do it far less than that! At CHW we did vitals at the beginning, occassionally in the middle and at the end. I have asked my GC to re-write the Aldurazyme rx to be based on weight given the drug will no longer be paid for ahead of time and then shipped from a Specialty Pharmacy but instead the hosptial orders it and bills my insurance. Billing this way is totally so they can do a huge drug upcharge - what cost my Insur., approx $15,000 a wk or less will now no doubt cost double that unless the Insurance put in place a fixed price per vile contract which is also possible. If anyone ever wonders why our healthcare costs so much in America...
Otherwise the curious aside was the main Nurse I had kept commenting throughut the day (and I mean she literally kept questioning me about it) about the cough which was very mild when I got there around 10:30 and full out sounded like a mix between a lifelong smoker and a deep hacking/barking cough by the end that was and still is continous that night.
Because this worsening during ERT has been going on for months now although I hadn't really thought alot about it before the Nurse kept asking about it today but I emailed my Neurosurgeon (I didnt hear back which I don't always) to see if she had any thoughts. I also emailed and did get a partial response from my Cardiologist with more questions of his own. He first commented if the infusion was being given fast and alot of fluid he felt it could be causing "your heart pressure to raise leading to congestion of your lungs, and your cough". - I obviously have noticed the cough in general and been asked more times than I can count "are you ok", "do you need a cough drop", "do you need some water" or "are you sick"? All from well meaning people.
Because it's not hard to do and I try to keep the 3 or 4 Core Providers especially on the same page (and they so often work closely together) I had sent a message to my PMD regarding this infusion fluid seeming issues. She in-turn also has concerns it is to much fluid being given to fast - in most pts. she commented 150ml's isn't really alot of overall fluid, especially over 4 hrs but she feels my body is extremely sensitive to fluid shifts and asked if they (Genetics, Infusion clinic) could run it in over 5 hrs instead of over the current 4hr time period to break up how much fluid is being given each hour. Wouldn't be ideal to have to go longer though I do know others (for very different reasons, usually to maximize enzyme exposure) who go over 5hrs or longer.
She thought bringing this up to my Lung dr. may help as that dr is in the same Health System as my Genetics Team. I see Pulmonary next wk so have written this down, fwd'd my PMD's response to my Heart dr. and will talk to the Pharmacist and Nurses at ERT next wk. It seems from yesterdays infusion the Pharmacist seems pretty amiable (she is assigned solely to the Infusion clinic which is nice!) and the Nurse was willing to turn down and run yesterdays rate slower so perhaps they would be willing to do it on their own. Guess we'll see.
I really don't quite understand why so little fluid (from the infusion) when I do take rather large doses of meds to get fluid off is causing such increase in symptoms?!? Overal my headaches while imperfect are still better than pre-the VPS (shunt) revision as is the cough to some extent but that said the cough is still utterly terrible many days especially by the end of the day! I've come to the conclusion vs sounding like a smokers cough instead it sounds like a barking seal and altogether annoying! I can understand I guess why it would get worse as the day goes on given the TPL Shunt drains more when I am standing up and thus the longer I am up the more fluid that probably collects in the pleural space causing the irritation.
I just keep praying the cough will resolve and the fluid will start to absorb better?
The side pain over/by my R ribs and under/to side of R breast is pretty near a constant with some fluctuation, I often unconsciously find myself holding my side, almost as if to put pressure on the uncomfortable area without really realizing i've been doing it. Odd is the feeling for sure! I guess we'll see what the Lung dr says next week regarding all of this issues (cough, pleural effusion/fluid and ERT rate, etc.). I didn't hear anything further from my Cardiologist after answering his questions which is a little odd (that he'd ask those questions and not re-respond).
Included below is part of the recent Echo results, which as you can see are not to bad, the 2 changes are the L atrial (moderate) enlargement and the R atrial (mild) enlargement both of which are new from 3mo ago. These issues likely go along with the on-going cough and fluid balance issue between the TPL Shunt and Lung/heart and as well seeming even increase in cough/symptoms with ERT (infusion) though I don't get a large amount of fluid and is given over 4hrs.
We did deal w Severe L atrial enlargement prior to the 1st Aortic valve and subsequent 2nd re-do Aortic valve replacements but that had went away not to long after the 2nd surgery. The mitral valve atleast hasn't worsened since the Echo last Febr which showed it increased from a Mild to a Moderate leaking and narrowing.
Summary: 1. Hurler-Scheie syndrome. 2. S/p Kono procedure and aortic valve replacement with a 21 mm Flex ring St. Jude valve. 7/23/2013. 3. S/p subsequent re-replacement of mechanical aortic valve and closure of residual VSD on 9/3/2013. 4. No residual ventricular septal defect. 5. Trivial aortic valve stenosis. 6. Peak aortic valve gradient (A4C) = 14 mmHg; mean gradient = 9 mmHg. 7. Mild aortic valve insufficiency with no evidence of paravalvar leak. 8. Tethered and thickened mitral valve. 9. Moderate mitral valve stenosis -unchanged from previous study.10. Mitral valve mean gradient = 8 mmHg.11. Moderate mitral valve insufficiency.12. Moderately dilated left atrial cavity.13. Mildly dilated left ventricular cavity.

Otherwise I got back from the National MPS Society Conf. Sunday night which was at Disney World in FL (Contemporary Resort). The Foundation I work very part time for paid my expenses (flight, hotel, food) and was a lovely Conf. seeing both these 2 whom I work for (although they ended up having to leave early on Fri) and many other friends.
The Adult Conf. was defintiely heads and tails better than any of the 2 previous ones which was nice! I do think there's still alot more that can be done for Adults to bring more in to the Society especially at the regular Family Conf. which is not at all geared to those who are actually affected by the disorders but still overall it was good.
I toured Downtown Disney Thurs morning (I got in Weds early afternoon) and after Conference related stuff Thurs afternoon/evening, and most of Fri and then Sat. morning I went to Epcot with 3 friends (also adults 2 MPS I and a friend of ours w MPS II) and the 1's Dad. Very fun! :) Epcot like Magic Kingdom 5yrs ago was definitely not what I had pictured it as but we had a blast taking pictures and just seeing parts of the park. Overall we did probably less than a 1/4 of the total park but was fun and enough.
At the Conference as happens here at home I got quite a few compliments from friends and families who knew my story when I was first diagnoed and the often extreme struggles I had with many Providers getting answers. Now I often receive high praise especially for "how dedicated your Neurosurgeon is to your care and persistent" which I do hope Dr.Bragg knows that means alot to me! I am glad other families can see you don't always need an so-called "MPS Expert" to handle your or your Child's care to get great care! Maybe 1 or 2 of my non-core Providers are "experts" but non of my Core Providers are and yet I have the best Team of Providers i've had in years!
I'll try to get around to updating the slideshow with new pics sometime soon.
I hope each of you reading this has a very blessed Christmas, I am hoping our families celebrations are calm and without much anxiety (on my nephews part) as well I am looking fwd to the Christmas Eve and Christmas Day services.
I'll update next week after the Lung dr appt.,
Thanks so much for stopping by,

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