Juat keep on moving forward..

Bailey and Addison had appointments at NIH on Wednesday 11/5. They had several evaluations and we updated them on the last 2 years since we’ve been there. Both girls had muscle ultrasounds done, Bailey had a skin biopsy done, and then both girls had Echocardiograms. This all took about 7 exhausting hours. Both girls were really good and they each got to pick a toy from their treasure chest before we left, which made them happy!

So the outcome of the day?

Bailey’s muscle ultrasound was different from the last one that she had done 2 years ago and they saw things that they had never seen before. They also were still concerned with her fatigue. They think it is possible that it is more extreme than that of a person with a muscle disorder/mutation. They want to follow up with some repeat testing which she will have to do as an inpatient at NIH since she can’t fast prior to testing. They are going to repeat a muscle MRI, a specific lower muscle MRI, and an EMG with stimulation under sedation. They said it is possible that a contributing factor to her fatigue is moderate obstructive sleep apnea. She had a sleep study done at the end of September and we found out they saw some thing’s on the test. She has an appointment Monday with ENT to look for upper airway obstruction and then depending on what they see they will probably repeat the sleep study while introducing a BiPap machine. We had a horrible experience with the sleep study so hopefully this one goes better. We do not have the results of her echocardiogram yet but I suspect it is fine since she just had one done at the beginning of October and she has started a possible preventative heart medication since then. Bailey had a skin biopsy done at the end of the appointment which they will use to validate her TTN mutation and to compare to some other testing that we are waiting on from Germany.

Addison’s blood was sent away for testing to see if she has the same TTN gene mutation that Bailey has. We will have the results for that in 4-6 weeks. If she does have the mutation she will need to have the same 3 tests that Bailey is going to have done. We are of course crossing our fingers that there is no mutation found. She had a muscle ultrasound done and they saw mild muscle abnormalities on her lower extremities. It could be normal for her age but they are not completely sure so they are going to monitor it for now and do another ultrasound in a year or so. We don’t have her results from her Echocardiogram (this was the first one she’s ever had) but the tech said he saw no signs of a cardio myopathy which is promising!

Steven and I are scheduled to go to NIH on December 16th to have multiple Cardiac tests done. They informed me that it may not be completely necessary for me to have the testing done since Steven is the carrier and I am the variant. They are researching on if it would be beneficial for me to have the testing done. If not Steven will still go and have his heart looked at. Again, we are crossing our fingers that nothing comes of these tests!


I feel like every time that I feel like things may start to slow down or smooth out we get bombarded with new information, new tests, new things to wait for, new everything. Even though I knew something would come of this appointment (or else we wouldn’t need to be seen at NIH) it is frustrating and overwhelming never knowing what to expect. We always have so much going on, it’s hard not to wonder why this is our life and when will things ever slow down for us or mainly for our children but this is our normal and we go through the motions because that is what we HAVE to do as parents. I’ve learned to not go into appointments expecting things to go well and then I’m not disappointed when we get bad news and I’m ecstatic when things do go well! I try to stay positive and take things one day/one test/one doctor at a time but I do have my down moments, everyone does.

Until next time…