As we walk Meisyn's medical maze we see that while we did not know, did not have an inkling of what her medical issues would involve, there was direction in where Meisyn landed in a family.
We had more specialists to visit today. We will also get to visit a pulmonologist. Meisyn's muscles around her lungs aren't so spectacular. She starts her training with an occupational therapist on Thursday. She and Jaeya both had 4 vials of blood drawn for more tests than I can remember. You can see from their pictures how brave they tried to be. What warrior girls!
Meisyn also will have to have a muscle strength test done under sedation at Primary Children's Medical Center. They will at the same time pull her 5 rotten teeth out. With her lungs the way they are, sedation is more dangerous for her than for other children.
Collagen IV myopathies are not common...and yet....and yet....we have learned that one of the leading researchers and experts in this specific field....is...in....our...backyard. I have pasted his bio below. Dr. Butterfield is going to be a most important person in our journey. "His current efforts are in characterization of genotype/phenotype relationships and molecular pathogenesis in collagen VI myopathies. He has an interest in all types of neurogenetic and neuromuscular disorders with an emphasis on muscular dystrophies of childhood onset."
How did a child with rare collagen VI muscular dystrophy end up in UTAH with an expert in this field as her doctor???? One of those tender mercies that confirm our Meisyn is meant to be here.
Jaeya sees the geneticist, nutritionist, audiologist, and OI specialist again tomorrow. Then she begins her first pamidronate IV treatment on Thursday. Caden will be infused in one day but because Jaeya is so tiny she will take two days. They prefer to do it over a three day period but as we live 4 hours from the hospital have shortened it to two. She also has a referral to the endocronologist.
Upon finishing day one of our four day medical treatment marathon, Jaeya declared, "Oh my goodness! Too much doctor! Jaeya no like so much doctor!" It got even better when she finally understood that the 5 vials we brought home are for her stool specimens. She wrinkled her face and said, "Really?? Really, really? Why doctor want? Doctor eat it???? Oh my goodness, oh my goodness. That disussing! (disgusting)" She just cracks me up. At the blood draw the nurse made a big deal of Meisyn being such a big girl and not crying. Jaeya was her typical anxiety ridden self and worried it would be "oooochy". When the nurse asked, "Are you going to be a big girl too?" Jaeya promptly replied, "NO! Jaeya no big. Jaeya velly, velly small girl". But she ended up doing awesome and didn't cry. The worry always eats her up more than the reality.
So tomorrow we shall see what day 2 brings us.
Russell Butterfield, MD, PhD
Instructor, Departments of Neurology and Pediatrics
- BS (Microbiology), Brigham Young University
- MD (Medicine), University of Illinois
- PhD (Genetics), University of Illinois
- Residency-Pediatrics; University of Utah, School of Medicine
- Residency-Child Neurology; University of Utah, School of Medicine
Pediatric neurology, neuromuscular disorders, neurogenetics, metabolic and mitochondrial disorders
Genetic aspects of disorders of muscle including myopathies and muscular dystrophies, with particular interest in collagen VI myopathies (Ullrich congenital muscular dystrophy and Bethlem myopathy)
Dr. Russell Butterfield is an Instructor in the Departments of Pediatrics and Neurology at the University Of Utah School Of Medicine. After receiving his B.S. in Microbiology from Brigham Young University, he joined the Medical Scholars Program at the University of Illinois at Urbana-Champaign. He completed his PhD training in mammalian genetics, studying genetic aspects of organ-specific autoimmunity. After completion of medical school he moved west to the University of Utah, School of Medicine where he completed training in Pediatrics and Child Neurology.
Dr. Butterfield is a Muscular Dystrophy Association Fellow under the Clinical Research Training Grant, supporting his study of neuromuscular disorders. His current efforts are in characterization of genotype/phenotype relationships and molecular pathogenesis in collagen VI myopathies. He has an interest in all types of neurogenetic and neuromuscular disorders with an emphasis on muscular dystrophies of childhood onset.