It is estimated that 60-80% of MPS I patients have their disease as a result of a nonsense mutation.
There is no cure for MPS I and enzyme replacement therapies do not sufficiently address the central nervous system, skeletal or cardiac symptoms associated with the disorder. Prognosis of patients with MPS I is poor and there is an urgent need for the development of new treatments targeting the underlying cause of MPS
At PMR today I saw my docs partner (she is on maternity leave) and asked him as we where talking pre-botox if he thought botox might help the low spine/hamstring nerve like symptoms.
He after doing a quick assessment did not feel it would and also, like my PT has concerns it is caused by a spine nerve being irritated. See below about last weeks PT appt. but I guess this means I should call Dr.Bragg.
I see my Pain Mngmt dr on Thurs and perhaps going to 1st see what she thinks, she has been on my 'Team' since pre-any of the spine surgeries so she may have a good vantage pt. I suspect I know what she'll also say but still I am in no hurry to ask Dr.Bragg for help on still another (potential) TPL Shunt issue!
Earlier last week at Physical Therapy, (which I've been doing on and off for years but in this case since March or April) my PT had some concerns with the sciatic nerve (we think) related symptoms occurring down the back of my L buttocks, L back of leg (hamstring/related muscle groups).
Because the symptoms have not improved at all and seem only to be getting worse-occurring more frequently he was concerned it may be a spine nerve issue, given my history. Beucase the symptoms have begun occurring at night I wake up often having to move/get up/stretch. His concern is whenever I've had other issues w muscles/nerve we've atleast been able to decrease symptoms and everything will at least improve. This time, going on for the past couple months and symptoms only worsening, with no response from our efforts in PT (again soooo unusual) it is often miserable when symptoms occur.
We know it is full spine MRI's looked ok minus more typical MPS spine issues (narrowing for instance) that it isn't actual compression or something like a herniated disc but Dr.Bragg when reviewing the imaged had mentioned the TPL Shunt catheter, sitting in the spinal canal around T-10 (I believe) was closer to one side of the canal than they prefer and she thought it was possible this could be the cause of the symptoms.
Tom, mentioned at the end of that PT Appt how at the end of each session he is able to make a small amount of improvement in this particular muscle group but then each wk I'd come back he could clearly tell the muscles where back to if not worse then the wk before, as if he'd never done anything.
Per his experience this is not normal and he asked if I'd had MRIs recently (I have). Being Tom is incredibly conservative and not a big believer in a lot of the interventions/tests that are done for some pts (he seems to get the need for more in MPS) I was a little surprised by his concern.
He asked that I talk to Dr.Bragg to make sure she is aware the symptoms are only worsening and to make sure it is not the TPL Shunt causing these nerve irritation symptoms.
I've not heard what's going on regarding if she was able to talk to Dr.Dickson about potentially setting up to do IT (if it is possible it will take time) or if she was able to talk to the Plastic Surgeon about the other bone thinning she was interested in pursuing (I am more than hesitant about that one but willing to get information on it).
I guess really I need to call her Nurse or Secretary about all of these things or probably just make an appt.
Otherwise things have been really buys but not altogether in a bad way. INR for the mechanical heart valve has swung high and low repeatedly so we con't to adjust that - last wk Monday it was 5.0. Thurs after a slight dose adjustment it was 2.89 and I re-test again either Thurs or Mon (my choice, they wanted Thurs but said I could do Monday since I am at that hospital every Mon.).
Last week, early in the week I had lunch w the WI drug rep from Genzyme (which was nice) and she + the whole team (Carol, Karen, Amy) where in-turn in WI Weds-Sat.
They where hosting a Fabry mtng in Milw. Fri night and invited me to attend "since we don't have MPS I mtngs".
I knew many of the families at the dinner though not their significant others and as well was a really lovely surprise when one of my former and 1st drs. from UofMn was the invited speaker! Our Genzyme Team must have told her I was also attending b/c I am not sure who was happier when I walked in - it was soooo freakin lovely to see her (she is in private practice in Mn now but had left for some yrs to practice at Denver Children's)!
We honest to goodness spent most of the night catching up, talking and just talking about all of the changed in my 'Team', my care and overall the MPS community. She is so fantastically smart but exceptionally down to earth! We've exchanged contact info and more than likely now that she is back in the Midwest we'll run in to each other again from time-to-time.
On a kind of cool note each of the 3 Genzyme reps had asked for one of the Aldurazyme 'flip off' bracelets which I sent to them and where wearing them + KB also liked + asked for one! Very cool the little ways we can raise awareness as many people ask about my bracelet!
On a completely un-related note our family (my parents, myself, my sister and her family) all go to an amusement park near Green Bay each year along w my brother's son and are doing this next week.
Bay Beach is like a mix of a giant (but uber cheap) carnival, near scenic Lake Michigan view, giant (REALLY GIANT) slide you ride down on potato sacks. There is a train ride that goes around the park, an old wooden roller coaster from Elvis Presley/down south, a pool and this year a new ride was being added similar to some that are at carnivals on top of many, many, MANY other awesome rides big and small!
It's such a perfect place for any age! I'll be sure and post pics in one of the future blogs. =)
Thanks for stopping by,
Erica
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