Another year

We made it!  Our trip to NIH always seems like it should be short and sweet, but somehow it always feels like a major ordeal.  This was our 5th trip; Emily has now been on leptin for two years.  We flew out on Tuesday, of course our flight was delayed, but we were still able to catch the last shuttle to the Children's Inn.  Wednesday was an early morning with the two hour glucose test.  The nurse was able to get the IV started easily, and Emily quietly played her videogame.  She then had an x-ray of her hand/wrist and finally an ultrasound of her abdomen.  Thursday was our time to meet with the doctors (I will explain the results in just a moment), then picking up her medicine and off to the airport.  Unfortunately, our flight was cancelled a hour before take-off due to bad weather between NIH and home.  So we waited to get our suitcase back and then waited in line for another 2 hours for a new flight.  Thankfully they still had our room at the Inn, so we took a late night shuttle back.  And finally Friday evening, after sitting on pins and needles checking the weather, we were home!  Thank you everyone who helped care for Heidi, Anna and Luke.  They had a fun-filled few days.

And now for the results!  I was fairly nervous about what the doctors were going to say.  Last year they basically threatened to take Emily off of the leptin if we couldn't get her off the g-tube (they felt like it was the only variable that was interfering with the leptin working).  The good news is, everything looks pretty good, and the doctors were all happy with the results.  Emily's liver enzymes are close to normal, her triglycerides are lower than they have been in quite a while (in the 300's, which is still high, but better), and her insulin/blood sugar is in good balance.  The doctors are confused as there is still calcium and protein in both her urine and blood (the last few urine samples have not shown any blood, so hopefully that situation has resolved itself for now).  We had an opportunity to see a hematologist on Friday, but the appointment was cancelled because the hematologist did not see anything overly concerning in Emily's labwork.  Our doctors think there may be in imbalance of vitamins, so they are doing more research.  They did put Emily on another medicine, as her body is working really hard to keep her blood sugar under control (it is working correctly, just working hard, and the medicine will help make it easier).  The doctors feel like the wasting of her limbs has stabilized.  Her bones are now 7 years 10 months old, which was a bit of a shock.  The doctors said that it is "normal" for her syndrome, and doesn't mean she will stop growing any sooner, or go thru puberty any earlier.  They were, in fact, very pleased with her weight and height gains.  It is always reassuring to hear that many of her symptoms are similar to other patients, and ask questions of people who are familiar with the syndromes.  The doctors did say that she has symptoms of atypical progeria syndrome, which we had not heard before (her facial features are that of progeria, but many of her other issues are atypical).  So, bottome line, I was thrilled with all that good news.  Praise God for medicine that works, and for knowledgeable doctors!

One of the things I really struggle with is the responses of the public.  Everyone just stares at Emily, much longer than necessary.  We have had several people ask if she has been on TV.  As the school year nears I am very nervous for her, as other kids continue to be mean (at the park, at the store).  There was one little girl, who we shared a shuttle to the Inn with, who told Emily she was beautiful.  She then turned to me and asked what was wrong with Emily.  I just explained that her body has no fat, but in my head I was thinking, "there is nothing wrong with her, she is just the way God made her".  It was a nice compliment for Emily to hear.  I have started doing a little poking around online since we have been home and found several websites and people who are also dealing with progeria/lipodystrophy.  There are only 80 people in the world with progeria!  I found one other boy with atypical progeria (obviously, there are probably numerous unpublished/undiagnosed cases).  And what I have found is that the parents are very active in bringing about awareness for their children.  And maybe it is time that I do the same, maybe it would help people see that Emily is both normal and special at the same time.  We will see, there is a balance between making Emily a celebrity (in being so unique, the one boy has quite a variety of opportunities, he even carried the Olympic torch) and making sure people just understand her syndromes.  And the main purpose of any of it, would be to glorify God.

So there was our excitement.  School starts on the 22nd if I remember correctly, and of course we have another birthday before that.  We continue to look at rentals, but God has just not opened the door yet.  Justin worked plenty of overtime for a few days, so we missed our opportunity to go away, but we will try again in August.  And my mom's mom passed away yesterday.  She was an extremely generous grandma, who was there for my family during the hard times (and good times of course).  I am glad that she is now with my mom, dancing in Heaven, free from the pain of this world.