We took Maya to her 6th visit with her SMA doctor
in Utah. This time it was just us with Maya. Kaden stayed at home with his
grandma. Last visit we all went so at least he can say he’s been there!
Maya stats @ 4 yrs and 4 months = 34 lbs and 39 inches.
Maya’s scores were kind of the same. Maybe a slight
decrease. She was 0.9 last time and 0.8 this time. Her physical therapy score
went up to an 18 so that is great news. It is possible that Maya has been
taking too low of a dose on her medicine and maybe that contributed to the
slight decrease in her test. Her bloodtest also indicated a low VPA level so
they decided to increase it. Quite a lot actually (from 1.7 to 2.5!). We also
talked about putting her back on the sprinkles (which is a capsule opened up
and sprinkled on her food). The tiny dots have a time release effect giving her
medication throughout the day as opposed to the liquid med which goes to her
all at once. We originally started Maya on the sprinkles but had to discontinue
when it got so tough to hide it in food. We also increased carnitine based on
her weight. There is some bloodwork that didn’t look so great so we need to get
her retested in a couple of areas, but it didn’t seem to be an emergency type
thing.
Clinical Trial update:
The Isis trial has begun and they are undergoing the Phase 1 safety and dosing.
Maya was not a good candidate for Phase 1 and that is why they did not call us.
Phase 2 is likely to begin anywhere between September to January, based on the
FDA approval. More Type IIs will be
admitted to this phase and they think Maya may be able to enroll in this phase.
This medication is formulated to slow or stop the progression of the disease.
It is possible to see increase in strength, but I don’t believe the medication
is intended to reverse any loss of function, only to sustain and maximize the
function that remains. Charlie and I of course will take whatever we can get.
If stopping the progression is what we are getting, that is a huge win. Hope to
update soon on whether this will be in Maya’s future.
FYI – two other treatments are very close behind this one.
One is a medication similar to the one above. The other is gene therapy which
has been receiving a lot of attention lately. Gene therapy is most successful
in those who are pre-symptomatic and those who have just been diagnosed, to
preserve function. Unfortunately, in Maya’s case, the current study is also for
sustainability and not for reversing the loss of function.
We did enjoy the trip up to Utah just as we always do.
Maya learned how to use chopsticks at PF Changs:
Went to the zoo and met up with 2 other SMA families. Here
is a picture of Noah, Type II. We took Noah Maya’s old stander and he loves it!
Playing with daddy at the Children’s Museum. I personally
enjoyed watching Charlie being the cashier…
1 comment:
LOL! That apron is awesome! Charlie needs one (in that size of course) for grilling! ;-)
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