Grace Catherine Murray
Born December 7, 2005
Written by Amy Murray (mom)

Grace, born 12/7/05 was diagnosed with CDG on April 12, 2007, she was 16 mos. old. When she was 4 mos. old her doctor ordered PT because she seemed to not have as much strength as she should.

Grace

In hindsight I can see that she was a bit "floppy" so to speak. She had strabismus, which was corrected with surgery when she was a year old. At 8mos. she was not rolling over or sitting. We saw a neurologist who order an MRI of her brain and discovered that she had a small cerebellum. This helped to explain her ataxia, lack of balance and coordination. We continued with PT and since getting her diagnosis we've added OT and ST as well. Grace's neurologist ordered blood work and she always had elevated liver enzymes and some abnormal coags as well. At this time she has her pediatrician, a neurologist, hematologist, ophthalmologist, cardiologist, geneticist, and orthopedist. So far she has not had any other problems with feedings. The genetics doctor has order additional blood work although we haven't gotten those results yet. Through clinical symptoms the neurologist feels that she has type Ia, he also feels that her case is relatively mild. All of the specialist see her every 6 mos just to make sure that she is doing well. She is not on any medications and has not had any seizures or stroke-like episodes.

Grace age 2

Grace is now 2 years and 2 mos and just began sitting on her own. Grace can feed herself, but she works hard and very carefully to get the spoon/fork to her mouth. She gets to hands and knees on her own and rocks back and forth. She can walk with a gait trainer, but she is still pretty weak and does a lot of propelling with both legs in her trainer. Grace is hypotonic, is almost areflexic, her ataxia is better and is usually noticable when she is fatigued. We did an EMG and discovered that she does have some gross muscle neuropathy in her legs. She also had an ERG and a kidney scan which were relatively normal. These test were done mostly to get baseline information so we can detect any changes in the future. She's had an EKG and an Echo in the summer of 2007 which were both normal and a repeat in January 2008 which were also normal. Ortho did spine and pelvic x-rays for baseline info as well and both were normal. You can see that she wants to be independantly mobile but just doesn't have the strength or the balance. As far as her vocabulary is she communicates with a combination of words and sign language. Grace works very hard and is making alot of progress in therapy.

Grace and Emily

Grace touches the hearts of everyone she meets and although her condition would make her less than perfect in someone else's eyes, in the eyes of those of us that know her and love her we see nothing but perfection. I do not know what the future will hold but we are very optomistic and take each day as it comes and thank God for the blessing of having her in our life and for the progress that she continues to make everyday.

eff: 2008