We had our growth hormone stimulation test on Tuesday. One of the challenges was so have Macy NPO (no food, drink, meds) after midnight. We gave it a trial run last week. The plan was to get up at midnight, give her a shake, and then give it a trial run of being NPO for 9-10 hours. When I first checked her that morning at 8:15 she was 64. Not great, but Macy is normally lower than the average person. I then checked her again at 9:00 and she went up to 71. So I let her go ahead and eat. On the day of the test, we followed the same procedure...getting up at midnight and giving her shake. Jeremy and I got up early and snuck some food before we woke Macy up. Poor girl was already hungry when she got up.
When we arrived at 7:21, the doors were still locked at the infusion center. They told us to arrive at 7:30, so we decided to wait in a waiting area down the way from the infusion center. A lady working the front desk in the waiting area started chatting with Macy about her American Girl Doll she had brought. In talking with her, she told us that one of her grown daughters was on growth hormone injections and she started at the age of 10. She told us all about the test, and then shared with us some information about the Human Growth Foundation. She was a board member for years. I guess it was meant to be that we arrived early, went to that waiting area, and met that woman.
We arrived at the infusion center, filled out some initial paperwork, and then waited. We waited, and waited, and waited. I didn't check Macy's blood sugar because she appeared to be fine and I kept thinking we would be going back soon. Pretty soon they came out and said it would be a little longer because they were waiting on some specifics for her orders. Not sure exactly what, but after about 15 more minutes, they called us back.
The nurse was awesome and walked Macy through the whole process. The first thing was to give her the IV. This picture is right after the IV was placed. Our brave girl was still all smiles. And isn't she just beautiful!?!?!
After the IV was placed, they did a blood draw. Then they came in with a small pill for her to take. It was a pill to put her body in sleep mode. Your pituitary gland produces the growth hormone the best when you are sleeping. She fought it for almost an hour and then passed out. They did another blood draw and then started her on the IV drip that would stimulate her growth hormones. That ran for 30 minutes and was then unhooked. They then did another blood draw every 30 minutes for 2 hours. She had a total of 6 blood draws (2 tubes each time ) taken. That is a lot of blood. In addition to the normal blood tests, they used some of the blood to check her blood sugar each time. The lowest it got the entire time was 76, the highest was 99. Yay Macy!
When the test was over, she was finally able to have a snack. They made sure she ate and drank before they let her leave. You can tell she still wasn't quite awake in the photo below. She was groggy for the remainder of the afternoon. We were told she couldn't operate under the influence....any scooters or bikes, lol. We left and went straight through the Taco Bell drive thru to get her favorite lunch. Jeremy, Macy, and I fell asleep on the couch that afternoon...we were all exhausted. Thankfully, that was one of the easiest tests we've ever had with Macy. The logistics going into it ended up being the most stressful part of all...How will her blood sugars hold out? How will her body respond to the meds administered considering her multi-systematic defects? Well, she did great and so did her body. We are unbelievably proud to have such a strong little girl!
RESULTS
Our endocrinologist called me on Thursday with results. I honestly thought this was going to be pretty cut and dry, but it turns out things are more complicated that we thought. First of all her pituitary gland is functioning normally and producing enough growth hormones. Yay for that!!! I am very happy we don't have to add to her list of things in her body not working properly! But something is still not right. She is producing enough growth hormones from the pituitary glands, but she is still not growing, and the growth factors in her blood are too low.
Here is how the growth hormone process works. Your pituitary gland produces the growth hormone. Some goes out to your body immediately to produce growth, and some travels to your liver. Your liver produces something called IGF-1, and it is then sent out to your body to aid in more growth.
Here is how a normal liver works vs how Macy's liver currently works. In a normal liver, your portal vein carries everything you need to your liver processes it and sends it out to your body through the inferior vena cava. Macy's portal vein bypasses her liver and connects right into her inferior vena cava. So as far as we know, her blood that is carrying nutrients does not get processed and cleaned through her liver.
So, if growth hormones are being sent to the liver...and if the liver is supposed to create IGF-1, is Macy's liver receiving and creating anything? Our endocrinologist and I had a big discussion about this over the phone. We aren't sure. So this looks like a liver problem rather than an endocrine problem. So my big question was, "If Macy's body is not producing IGF-1, can we get this to her through a supplement?" Our doctor said, they do make it. It is a 2x a day injection. At this point she isn't sure how readily available it is because she has NEVER treated a patient with it.
She is going to do 2 things:
1. See if we can get access to it, and how getting this for Macy would work.
2. She is going to contact some of Macy's other specialists to see if they would agree that this is the problem, and see if they can agree that the daily IGF-1 injections would work for her.
So, can we just fix the liver? Yes and no. There are only 2 options for Macy's liver, but so far with her liver lab work being stable, we don't want to mess with her liver unless we absolutely have to.
1. There is a possibility of creating a shunt from her portal vein to her liver. It is a newer fix, and has been successful on some patients. I do not know if they are doing it at Riley yet, but we know a doctor in Chicago who is doing it.
2. The only other fix is a liver transplant. It would have to be a full transplant and not a partial because she doesn't even have the hook-up in her liver for the portal vein to go to. We do not want to have to go this route. Initially, we were told this was the only "fix" until a few years ago.
So in the meantime, I have put calls into our GI and Metabolism doctors to fill them in as well as get their input on the results. I talked with our GI nurse the same day we got the results. She pulled all reports and test results and presented them to the doctor the very next morning. They called by 10 a.m. and want to see her in clinic. They worked her in for August 24th but placed her on a waiting list for any earlier appointments.
Thank you all for following along with Macy journey. I appreciate all the prayers for Macy and our family. The main prayer I am requesting right now is for answers! We will be keeping you updated when we find out a plan of action.
So, cut and dry? Not a chance. She's not 1 in a million, she's 1 in a billion! It's just part of what makes this amazing girl who she is! I couldn't love her any more....she amazes me every day!
