Today was a very busy day as we made the nearly 2 hour drive down to Boston for Kenzie's first visit with a neurologist at Boston Children's Hospital. Her doctor here is actually 3 doctors in one, he is a doctor in the disciplines of neurology, genetics, and metabolic disorders. We had a very good and positive appointment with this doctor.
First and foremost, we will not know exactly or fully what we are dealing with until we get blood results back. Those are the genetic blood test that were sent out just before New Years. It will take some time to get those back, probably in February at some point. Those results will hold the definitive answers to whether Kenzie has a mitochronidal disorder and if so then exactly which one or strain she has, which makes all the difference.
The best part about this doctor is he really does not like the term Leigh's disease. He states that the term and information is more outdated, and that what we are really looking is possibly a broad range of mitochronidal disorders. These are the disorders that affect the energy being supplied to the cells in Kenzie's body, much like batteries. We were showed the MRI images and while most parts of the brain are perfectly normal, there are areas in the deep part of the brain, technically called the basal ganglia, where there are evidence of injury and possible scarring. This is not from any physical injury but instead from the lack of energy output in this high energy part of the brain. What does this mean? Well it could mean a lot of things unfortunately. The blood results will give us the answer as to where to go from here. The doctor was very positive letting us know that there are treatable forms of this condition that slow down or even stop symptoms, and in some cases reverse some of the symptoms. In the event she has a strain that is not treatable yet, there is new and emerging supportive care options that help treat symptoms and help with quality of life , etc. Kenzie did have blood taken today as well as urine collected (that was real fun.....we waited for a good 2 1/2 hours for Kenzie to pee in the bag...... which ended up being more on the stroller than the bag, but they got enough). These tests will mainly check Kenzie's organ functions, specifically the liver and kidneys to make sure they are functioning properly as they use a lot of energy. The tests will also test the acidity in Kenzie's blood as that can be a side symptom of mitochronidal disorders, and if her blood is found to be acidic it will need to be treated.
The next steps will be setting up an appointment with a cardiologist, who will ensure that Kenzie's heart is functioning correctly and that nothing is amiss. While it is highly unlikely Kenzie has any issues with her heart, it is important that we check on this and have at least annual checks on her heart as it too uses a lot of energy. We will have a follow up appointment with this neurologist in Boston in April on the 13th. We will hear from him in about 2 weeks with the results of the blood work he took today, and hopefully we will hear about the genetics blood work at some point in February. The doctor also sent a prescription in for Kenzie for vitamins. There are some high concentration vitamins that have been shown to help with certain strains of mitochrondial disorders. Since the vitamins don't hurt anything, starting them now could actually help make things better within a couple of weeks if she has that strain. The doctor advised much better to at least try now before we know what she has , in case it makes a difference.
But the best summary of the day, and the most important thought that I summarized from everything the neurologist said is this. While this is a very serious illness, there are treatments out there for some of the strains, and new discoveries are being made more and more. From this we get hope, but know that no matter what we face a long road ahead. We thank everyone for their prayers and being there for us, all these prayers make all the difference!
Sunday, January 1, 2017
Today we went over to the Science Center. Their current exhibit is "Dinosaurs Unearthed". In an example of how different the girls are Kenzie was clapping and cheering for the animatronic dinosaurs while Kaitlyn was originally very hesitant about them. By the end though, she was enjoying them too. Kaitlyn's favorite part was the last animatronic dinosaur- that one was interactive. You could push buttons to control its movement. Pushing the button by the head would make it open it's mouth and roar. The button by its stomach would make it "breathe" and a button by its tail would make its tail swing.