As you can see, our daughter Ruth is a happy girl!
(Did we already say we're proud!?!!)
Ruthie is ( ), she was born August 11, 1995 with a serious neuromuscular disease. Ruth was respirator dependent at birth, but has come a long way since then. She is walking, talking and going to school, and chasing her little brother around the yard -- but before August 2005 she experienced delays in important milestones.
Ruthie was generally hypotonic (having low muscle tone; "floppy"). She was particularly vulnerable from the chest up, with a significant head lag, difficulty swallowing, feeding, and clearing her airway. Ruth never crawled, did not sit up until 2 years, she did not walk until 2 1/2 years, and she did not take liquids by mouth until she was almost 3 years old. Overall, Ruth was challenged by most things that demand strong muscle development or coordination.
Results from a muscle biopsy in November 1995 showed Ruth was 75% deficient in a mitochondrial enzyme called 'cytochrome c-reductase', a part of the enzyme chain that metabolizes oxygen to produce energy.
However, as Ruth's physical condition slowly and incrementally improved, that diagnosis was invalidated -- she is well beyond where a child with such a significant enzyme deficiency would be. In fact, she would probably not have survived.
In early 2001, analysis of Ruth's condition by her physical therapists and the staff at Columbia Presbyterian Medical Center indicated that she was more likely to suffer from an as yet undiagnosed neuromuscular disease, probably a mild form that is not progressive [does not get worse]. Ruth had demonstrated incremental improvements over the years, and though she suffered setbacks during periods of rapid growth or illness, she had surpassed previous milestones after a period of recovery (usually a month or so).
However, a second biopsy showed she did not have any of the three forms of suspected neuromuscular myopathies: Central Core Disease, Myotubular Myopathy or Nemaline Myopathy. For more information about neuromuscular myopathies, a very detailed myopathy fact sheet can be found on the Muscular Dystrophy Association (MDA) web site, with an overview of each condition.
During 2002, DNA testing ruled out another neuromuscular disease, Fasio-Scapular Humeral Dystrophy (FSHD), with a 90% certainty.
Ruth continued to display one or more symptoms that result from muscular myopathies, from general weakness and lack of reflexes to drooping eyelids and facial/neck weakness.
In late July 2005 we went to the Mayo Clinic Neurology Department in Rochester, MN where we discovered Ruth's diagnosis to be Congenital Myasthenia Gravis (CMG).
