A long day at the Mayo

We arrived at the Mayo at 8 am and didn't leave until 4 pm.  Kyla had a chest x-ray, urine test, and Electrocardiogram early on and Kyla did well through all of those tests.  Then came the EEG.  She did not like any part of it, and did not fall asleep, which was required in the test.  So, she had to be sedated for the last part of the test.  The nurse who administered the sedation was not eager to sedate her for some reason, so we spent a good bit of time just waiting for her.  And when she came in, she wouldn't sedate her because Kyla still had a blood test to go.  So, our EEG tech went to work and got orders for the sedation and we eventually were able to finish the test.  A 45 minute test took 2 and a half hours.  That was quite frustrating.  This is our second trip to Mayo and both times the EEG has been a terrible experience.  Anyway, after the EEG was over, Kyla had blood drawn and then we had lunch.  After lunch, we met with Dr. Selcen, a neurologist.  During this meeting, we discussed putting Kyla on another medication.  She agreed with Dr. Engel that 3,4 DAP is not worth the risk for Kyla, but she also suggested we try Albuterol, which Dr. Engel had mentioned yesterday.  This all deserves a little detail.

Kyla's problem is at the neuromuscular junction.  The nerve sends Acetylcholine to the muscle where it is received by Acetylcholine receptors.  Also in the junction is Acetylcholinesterase that cleans the Acetylcholine that remains in the neuromuscular junction (this is really a crude explanation, but it makes sense to me).  Kyla's problem is she is deficient in Rapsyn, which is crucial to proper function of the Acetylcholine receptors.  She currently takes Mestinon, which inhibits the Acetylcholinesterase, thus giving the Acetylcholine more opportunities to find the receptors.  This has been our miracle drug.  3,4 DAP helps send more Acetylcholine into the junction and has been positive in treating folks like Kyla.  There are risks with this, however, and we will not try this at this time.  Two other drugs have been clinically shown to help folks like Kyla, but both Dr. Engel and Dr. Selcen told us that it is not known why these two drugs work.  They are Ephedrine and Albuterol.  Ephedrine is almost impossible to get, but Albuterol is easy to get and seems to work better than Ephedrine.  So, we are going to start Albuterol tomorrow.  We also will try dialing back the Mestinon a little, as Dr. Selcen says our dose is too high.  We have no tests tomorrow, and will see both doctors tomorrow at 1:30.

The other big news of the day is that the EEG was normal, but when Kyla was sleeping during the test, her oxygen saturation level was low.  In fact, it was low enough that it should have woke her up, but it didn't.  So, we have a machine to measure her oxygen saturation while she sleeps tonight.  We'll see what happens with that.  

Even though it was a long day, we did have fun again tonight.  After an adventurous meal, we had ice cream and went swimming again.  Laura is finally starting to swim around a little and Kyla continues to have a blast in the pool.  

Thanks David and Stevo for the comments and your prayers.  Thanks to all who are praying for our little Kyla.  She bounces back from hard times very well and this trip has been no different.

The following slide show are pictures from the day.

  

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