Marina was born 7-30-97 after a normal pregnancy and relatively easy 6 hour labor. Weight 8 lbs 6 ozs, length 22 inches with Apgars of 8 and 9. She nursed well and was very alert and content. Except for very mild reflux, all was well for the first 3 months.
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Marina a Beautiful Flower
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Then we felt that her neck strength was lacking since she couldn't lift her head in prone. Our family Doctor said more tummy time and come back in two months.
At 4 months I called our Doctor again since we noticed that her eyes were turning in. We were referred to a local ophthalmologist who referred us to Dr. Young at the University of Minnesota.
At 5 months there was also shaking or "titubation" present so we saw a local pediatric neurologist. The MRI showed cerebellar asymmetry with a slightly smaller left side and benign extraventricular fluid. The neurologist said that none of this explained the shaking and suggested cerebral palsy. We were not pleased with how he handled our daughter and felt that he labeled her with CP prematurely. He even said that "there are some tests for rare disorders that we can do but nobody ever has those things." Needless to say, we sought a second opinion at Mayo.
At 61/2 months Marina got glasses as a last-ditch effort to correct the turning of her eyes before trying surgery.
At 9 months she had bimedial recessions to repair the esotropia. After some patching and no glasses, the surgery has held with only mild temporary turning after a recent viral illness.
At 12 months we saw Dr. Buchhalter at Mayo again. He suggested a genetics consultation sometime in the next six months. After consulting our family Doctor we decided to proceed right away.
At 13 months we saw Dr. Karnes at Mayo. She ordered chromosome and metabolic tests fully expecting normal results.
At 13 1/2 months, September 11, 1998, we got a phone call saying that all tests were normal except the CDT but that they wanted to retest her since she didn't have the typical clinical presentation of CDGS. Retesting confirmed CDGS.
In October we met Dr. Patterson. Besides numerous blood tests, Marina has had renal ultrasound, ech, skin biopsy and EMG. All are normal. The blood work showed some things were slightly off, which is consistent with CDGS. Typing is not yet complete but Type II is suspected.
In November Marina was hospitalized for evaluation of a cyanotic episode. An acid probe study confirmed the reflux suggested by a barium swallow done in September. She is currently on Zantac and Reglan. Propulsid gave her hives.
Marina has had OT/PT since she was 6 months old and is progressing. She rolled both ways at 9 months, sat independently at 11 months, crawled on all fours at 16 1/2 months and is now pulling up to standing.
Marina is a beautiful, charming, content little girl. She eats table food well, loves feeding herself finger foods and is starting to use silverware. She doesn't sleep well at night but we are hoping that this will change if and when she outgrows the reflux.
February was a very busy month for Marina. She was weaned, started speech therapy, which includes learning sign language and continued having OT every week in our home.
In March we started attending Language Center every Friday. Language Center is a group activity for all of the Infant Development Program speech kids. It is great to see Marina interacting with other kids her age.
In April Marina surprised us with another cyanotic episode. This time her O2 saturation was normal by the time we got to the hospital. We ended up going to Mayo a few days later for an EEG and an EKG, both of which were normal. We also decided to have a pulse oximeter at home to check her O2 sats several times daily for the first month and then only if she turned blue again. After 6 months of home monitoring we have not measured a low sat and returned the oximeter to the rental company.
In June Marina had her 6 month check for the mannose study at Mayo. We met with Dr. Zimmerman and decided to start monitoring her blood sugar. We have been using a hemocue blood glucose analyzer and have always gotten normal results. In addition to her already busy schedule, Marina started swimming lessons 2 times a week for a half hour at the YMCA. The lessons were very tiring for her but I think it really did help with her strength and balance. We definitely got some quality nap time after each lesson!
In July we saw Marina's gastroenterologist since her reflux was becoming more apparent. We were finding evidence in her bed each morning. The doctor increased the dose of the zantac and Reglan and Marina's tummy seems to have quieted down since then.
In August Marina took her first steps!!!!!! Her Mom, who rarely leaves the house without at least one child, was not home to witness the very first steps, but Marina did demonstrate when Mom got home. She can take up to 4 steps between people or between a person and the couch. We have to remind her to take nice little steps and go slow. Otherwise she gets too excited and tries to run.
In September we started taking Marina to the Dunn County therapy room every other week while continuing to have OT at home on the opposite weeks. Her OT thought that Marina was getting bored and needed a change to get her going again. Marina loves the new toys and the chance to charm an office full of new people. An MRI was done September 28 after a month-long spell of unexplained weakness and the return of the shaking that Marina did earlier in her life. The MRI was normal for Marina (still showing slight asymmetry of the cerebellum) and she has steadily regained her strength. She also fell and cut her head open and received two stitches. The ER nurse said it was a childhood rite of passage.
Marina cruises and crawls like crazy, climbs on furniture and can change position (standing, squatting, sitting, etc...) without falling over nearly as frequently as she used to. She continues to take a few steps at a time and can walk pretty well if someone holds one of her hands. She really has to concentrate to make it work for her but she is very determined to chase her brother. Riding her little Tike Bike (pushed with her legs) and pushing her little walking toy are some of her favorite activities. Marina has many words but still has difficulty using them at will. She has been picking up signs faster than we could teach them to her so I recently took a short sign language class so I could be ready for her. Marina's teacher just discovered a new kind of spoon that really helps with self-feeding. Marina is becoming very attached to her new spoons since they make her even more independent. Her therapists continue to be pleased with her progress, but Marina is still often frustrated that she can't do things easily. Thankfully she is a very cheerful, determined little girl who will not let anything stop her.
We are very grateful that Marina seems to have only mild effects of CDGS but we are also living in fear of what's next.