Macy's medical challenges have challenged us since day 1. We don't know any different, although sometimes we get a sense of some normalcy, and then we get a punch in the gut. If you recall our last medical post in 2013, I mentioned being referred to endocrinology. Well after some different tests between metabolism, GI, and endocrinology it was determined that Macy is just small. This is just who she is. So we went about our lives.....daily medications, as needed antibiotics and nebulizers, our random needs to check blood sugar, and a couple of random hospital stays for pneumonia and GI issues. For us, that is about as "normal" as we can get.
So here are some updates:
Cardiology
We now have a new cardiologist. He saw us inpatient a few times, so we are very excited he accepted us as new patients. Our visit with Dr. Schamberger in April went great! He said she looks very good from a heart standpoint. He wants to see her back for our annual visit, but will only be doing an EEG and no ECHO. He will repeat another ECHO in two years, unless we have a reason to take a look. He also said the words "early adulthood" when discussing her next open heart surgery. This is GREAT NEWS!!!
Cardio/Genetics
Riley has a new specialist that has joined the hospital. Dr. Ware joined Riley from Cincinnati Children's Hospital. She is a Cardio Geneticist She basically looks at patients with heart defects and looks for a genetic connection. She is almost positive Macy's problems stem from a genetic issue. She finds it extremely hard to believe she would just be born with all of these combined problems. We had some genetic testing done in 2008, and found nothing. She honestly has no idea either, and so far no one has found another child like Macy with her combinations of defects. She is definitely UNIQUE!
There is a new genetic test we can have done that may show us some more. It would be completed on Jeremy, me, and Macy so that they can compare all of our genes. If Macy has an abnormal gene, and Jeremy and mine are normal it may shed some lights on what specific gene caused her problems. However, sometimes this test reveals things about us that we may not want to know such as adult illnesses (such as cancers and other illnesses) that we have a predisposition for in the future. We would be protected with our current health insurance under a health act, but finding these things out could harm any future life insurance policies or any private health insurances. At this time, we have decided to wait on this test.
Metabolism
Last time we saw one of our favorite doctors, Dr. Hainline, was in October. As always her size is a huge discussion at all of our appointments, but I think he had just come to the realization that this is just who she is. He does however think that she is self-regulating her protein (since she is technically supposed to be on a low protein diet). She does not like meat! She tells everyone she is a vegetarian, which isn't true since she eats some chicken, fish, and eggs, lol. He suggested a gluten free diet because much of it is low protein and she may actually then eat more. We attempted some gluten free items, but it didn't seem to make much of a difference....and sometimes she ate less because she didn't like the taste of some of the items.
The drink he started us on a few years ago, was refused multiple times by insurance. 1 case costs $250 out of pocket, That is $250 for a total of 24 drinks. At that time she was going through 1 case in 8 days. We got lucky and found it on Ebay for $60-80 per case. But once again that is $60-80 every 8 days. Not easy on the checkbook! After insurance denied us again, I knew it wasn't something we could keep doing. We switched up her nutrition some, and started her on 1 drink in the morning with breakfast, and whole milk mixed with carnation in the evening. We have since switched to almond milk instead of whole milk, and now to a mix of almond milk and half and half (for weight gain purposes). Regardless, the drinks don't seem to be helping.....
That is where ENDOCRINOLOGY comes into play AGAIN.
We headed back Friday the 19th for a follow-up with Endocrinology. We've been on an annual basis since our first meeting a few years ago. At this visit, they said she gained some weight and height, but has actually fallen off of her own growth curve. And since her own growth curve is well below the norm, that isn't good. She is actually eating like a champ, so it's unexplainable. Dr. E wanted to repeat a bone age x-ray to compare from last year. This x-ray is done in radiology, and is simply an x-ray of Macy's wrist. This determines how much more growth she has left. Which in her case is a lot. Her bones are measuring a couple years behind.
I left that appointment and had that "punch in the gut" feeling again. I have said to people before that sometimes I feel like we are just floating along living our "normal", and then BAM..it hits again. Do we let our guard down too much? Is this God's way of reminding us about our true "normal" or how unique Macy is? I can't answer that, and frankly it doesn't matter. All I know is that we are a strong family, and we have an unbelievably strong little girl. For us this is just another uphill climb. As long as we hold hands and pull each other along we'll be fine.
I called last Tuesday for some answers on these labs since they had been the source to my lack of sleep all week. No lack of sleep actually due to the unknown, but a lack of sleep because I know what a life changer all of this can be if these labs come back abnormal. The nurse returned my call and verified that some of the labs came back abnormal. Macy's thyroid levels are off, but we can leave it alone for now and recheck in August. Both labs for her growth hormones were off as well. This warrants a 4-5 hour test to check her hormones more in-depth. We run into some problems regarding this test due to Macy having ketotic hypoglycemia.
We were supposed to get some more answers about this test and how we are going to accomplish it this week at our visit with Dr. Hainline, however due to an emergency they called and canceled. Due to him being one of the only ones that do his job, he is scheduling out into December. He is my "go to guy" for any answers I need. Knowing we are on a time crunch because this test is scheduled for July 14th at the Riley Infusion Center, they put my through to the nurse. Dr. Hainline has okayed the test, and wants to give her a trial run at home with being NPO (no food or drink) for an extended period of time. Uuggghh, not what I really want to do, but we'll do it :) If at any time during the test her blood sugar drops, we will stop the test. I had a few more questions, and she has already called back and answered them.
It seems like this could be a simple solution to her growth problems, and we pray it works out that way. Although with Macy not much is simple due to her multi-systematic defects. There is a lot that goes into looking at what may truly be causing problems...could it be a lack of a hormone? Could it be the function of her liver? Her heart? There is also a lot that goes into starting a new medication for her. Could it harm her liver? Could it be too much for her heart? Therefore we often have to get all our specialists on board any new decisions. That includes pediatrician, cardiologist, endocrinologist, ENT, GI, metabolism, and genetics.
We will definitely know more following the test on July 14th. Please continue to pray for answers for Macy, knowledge for our doctors, and patience for Jeremy and I as we once again navigate another unknown.
