Rheanna was born 4/5/94 with an uneventful pregnancy, average weight, height and head circumference. She was born by emergency c-section because of fetal distress, but then had Apgar scores of 7 & 8. There did not seem to be any immediate problems. She made good eye contact, bonded well and smiles right from the start. Her beautiful personality showed right from the beginning. Her pediatrician started noticing developmental delays and referred us to a Neurologist when Rheanna was 6 months old. Me a nurse and my husband a Medical Doctor you would think we would of picked up on her delays, but denial can be quite persistent. She was then diagnosed with cerebral palsy, with problems such as bilateral esotropia she was also hypotonic. We started therapy, you know the ones OT, ST, and PT. An MRI showed a cerebellum on the small side but so was she so no one was alarmed by this. She had one eye surgery the next year and it helped with straightening out her eyes. A few months later she began wearing glasses.
Rheanna continued to show progress with therapy, although she can not walk (we have faith that she will) she can crawl, stand by herself for a few seconds, climbs all over her dogs and get the best of her 10 yr. old half brother. Her main problem is ataxia and balance, especially when tired or sick. When she was 2 and a half she became ill quite fast with extremely high liver enzymes, and coagulation factors. We were scared to death, she was completely lethargic. At the second hospital they starting talking liver transplant. A liver biopsy showed us that she had fat vacuoles with slightly ragged looking cells. She recovered completely from that episode (thank God). Everyone was in the dark about a diagnosis, there was some good people working on the case but no one knew.
This last January she became ill over night. Started with vomiting, and she became lethargic once again. This time we went to Saint Mary’s Hospital (Mayo) by ambulance to see Dr. Patterson. She then had a stroke affecting her left side and her first and only seizure (knock on wood). A follow up MRI showed severe cerebellar atrophy. We were there for a week, her liver enzymes were not as high as the first episode. They placed a nasogastric tube for some nutrition. It seemed to take forever for the diagnosis to be confirmed. One week after we were home we got the confirmation of CDGS type I.
Rheanna is recovering from her stroke, crawling (I love to see her knees get dirty), walking with assistance. I sometimes find myself wishing it was just cerebral palsy and how I use to think it was horrific. Rheanna has added so much joy to our lives with her cunning and teasing ways and her wonderful smile and giggle. She has beautiful long hair, very happy and has much perseverance. She keeps on trying new things with her mobility, things most people take for granted. She touches many people’s hearts, I know God gave her to us for a very special reason. Rheanna is 3 in April, gosh how time flies. None of us know what the future holds, but what else can we do but take one day at a time. After all where there is life there is hope, we love our girl just the way she is. Rheanna was on a sulfa antibiotic just before she got ill each time, so we are hoping that without sulfa there won’t be anymore liver problems. God bless all our children and keep them safe.
eff: 1997