"I should not talk so much about myself if there were any body else whom I knew as well."
-Henry David Thoreau

Friday, September 13, 2013


We got up early this morning and drove to Kansas City for Alex’s neurology appointment.  Alex is such a good sport and, despite being slightly confused, she smiled when I woke her up to get ready.  I got her situated in her car seat and she was all smiles. 

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Drew and I rocked out to some classic rock on the drive and Alex just smiled like we were crazy, pitching in with her own notes every now and then. 

When we arrived at the hospital we were greeted by our lovely nurse advocate, Tonya, who has been with us through a lot with both of our girls.  It was nice to see her and visit for a few minutes while we waited to be called back. 

The last time we were in the clinic Alex used her computer to talk everyone up.  She asked Nurse Jayme what she was doing and when Jayme said that she had to work Alex told her, “That’s a bummer.”  We decided that every time Alex comes for an appointment that it should be a party and not work.  Well, guess what?  Jayme didn’t forget.  Jayme, Dr. LePichon and several other nurses wore pink (they remember that from Emma) and took a picture for Alex.  We have to get a frame so that we can hang this photo in Alex’s room.  That’s Dr. LePichon in the very back.  When Emma died he told me that he went out and bought his very first ever pink shirt and only wears it for her.  Today he wore it for Alex, too. 

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Nurse Jayme even had a Hello Kitty balloon for Alex. 

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As for the appointment itself, all went well.  We talked about how the last couple of months have been (pretty awful) and what has been working or not working.  We decided to increase the dosage of two medications and the frequency of one other medication.  I really think that these things will make a difference in Alex’s comfort level.  We are also continuing the B5 (Pantothenic Acid), increasing her dosage until we reach a fairly high level, just to see if it will help her any.  It’s not hurting anything, so it’s worth a try. 

Another note on medications… we are way past the ‘normal’ limit for all of her medications.  Drew asked where we were on a scale from 1 (not much) to 10 (absolute max).  Dr. LePichon said, “20.”  All of these medications have been added and increased gradually over the last 4 years.  There is much documentation (and expert advice) that says this is necessary.  Sure, there can be negatives associated with some (liver damage), but the alternative is to sacrifice her comfort and that is just not an option.  We understand the risks and proceed with awareness.  Alex is not the ‘normal’ and is tolerating everything well.  What we always look for is that she is not drowsy or lethargic, that she is breathing normally and still peeing.  Her tolerance level is so high, her pain & stiffness is so severe and she burns the medication off so quickly that much is required to just reach any level of reasonable comfort.  Maybe I should point out that ‘comfort’ is also a relative term.  Alex’s level of comfort would likely be miserable for any of the rest of us. 

Remember I said I thought Alex had gained several pounds?  I was right!  At her last appointment in June, she weighed 41.5 pounds.  Today she weighed 47 pounds!  She has also grown an inch.  What a growth spurt!  Gaining weight is a big deal for Alex, so this is quite an accomplishment.  Her body needs all the energy it can get, so I’m very pleased with her growth. 

We also got to meet with a new doctor in the neurology clinic.  He used to practice in Pittsburgh and has some experience with PKAN.  That’s a big deal, since there are very few doctors who have any experience at all.  As it turns out, the Pennsylvania Amish community has multiple PKAN kids.  I wasn’t sure how to ask this politely, so thankfully the doctor intervened and said it for me.  Yes, it is because they are a closed population.  Inbreeding.  Almost nobody new comes into the community.  Ever.  If the statistics that I looked up are correct, there are approximately 227,000 Amish people in the US today.  Almost all of them are descendent from the original 200 founders of the Amish community in America.  That’s a small gene pool, y’all.  They do deal with other genetic disorders as well.  Still I had no idea.  Even an internet search didn’t say anything about PKAN in their community.  But, because of this new doctor, we know that it exists at a much higher rate than the rest of the world population.  It is quite common (and almost unavoidable) to marry a cousin or second cousin (for many many generations), which means that those recessive PKAN genes keep getting passed and spread around… then when two of those carriers get married and have children, you have kiddos that get both genes and that means PKAN.  I found that very interesting. 

It was nice to visit with the new doctor and hear some of his experiences with other children.  He was very supportive of how we are caring for Alex.  We also talked about the Deferiprone study going on in Oakland.  None of us have heard of anything definitively amazing happening there.  There have been some parents who think that maybe their children are getting a bit better.  I have also talked to one of my PKAN mom friends who thinks that perhaps one of her girls is getting the medication and one is getting the placebo, because one is doing well and the other is declining.  It’s a double blind study, so nobody knows who is getting what… not even the doctors.  Anyway, the study is a step in the right direction and I do pray for each child in the study and that what is learned will benefit PKAN kids in the future. 

So, yes, the appointment went well and, as much as we LOVE Dr. LePichon, we hope to not see him again until next April.  Flu shots are on our immediate to-do list and the plan for the fall & winter is to keep Alex comfortable and healthy. 

Back in the truck… we were all pretty worn out. 

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She wasn’t asleep, but she sure was blinking heavy for a while.  I was so very proud of her for being so tough.  I rearranged her in the car seat pretty often, propping her as needed to keep her comfortable.  When we stopped for a feeding (on the way there and on the way back), we laid a quilt in the back of the Tahoe to let her lay down and stretch out a bit.  She tolerated the car seat the ENTIRE trip!  I did sit in the back with her for the last 1 1/2 of the trip, but never had to unbuckle her.  On the way home we listened to Alan Jackson’s Precious Memories CD and sang classic hymns.  Hmm… Queen on the way there, Jesus on the way back.  How’s that for 2 extremes?  Once we got home we let her lay in the floor and wiggle around and then gave her last feeding & medications… she was asleep before 7.  We will likely need a few days to recover, but hopefully the increased medication will help offset things. 

Thank you all for your prayers.  These trips are always a bit stressful because of the emotions involved in addressing such real & sobering facts.  Then the trip itself is physically tiring.  But, here we are, back at home and all went well.  God is good. 

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