Adam was born March 6, 1988. It was a nice day but labor was a few hours under 28 hours long. I think in the back of our minds, Mike and I did not think it could happen twice but... it did. Adam was not diagnoses until February 1993 by Doctor Mark Lubinsky of Children's Hospital in Milwaukee, Wisconsin near our home.
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Adam at 10 Years of Age
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Everything, pediatrician, OB/GYN, hospital, home were all different except the biggest and most important thing a healthy child. With pregnancy number two, the pediatrician was familiar with Amanda. After all, his wife, at that time, was Amanda's liver (Gastro-intestinal ?) doctor. Adam is the spitting image of Amanda; white blood cell count was ridiculously high, thought to be internal bleeding and or infection. Adam was thought to be having seizures. They put him on Phenobarbital right away. Amanda and Adam had a physical shake that we never understood. Their reach was shaky but we didn't think of seizures. We thought shaky, plain and simple. This is Amanda, shaky. This is Adam, shaky. We remembered all to well the sluggishness the drug made Amanda. And we could see the same sleepiness overwhelm Adam. We stopped the Phenobarbital, of course against the advice of others. BUT, how could we find out what Adam was if he was drugged and dopey? They weren't sure if this shaky was seizures. Let's try no drugs and pray.
Adam also never looked "right" physically with fat pads in odd spots that looked like cellulite. He was very pale and marbled skin with very prominent veins. He, too, had unusually long fingers and feet. He was scrunched in the fetal position-tight muscles. Again tests and looking for- whatever.
When we tried to get home from the hospital, Adam turned maroon like a beet from head to toe. Seriously, we were transferred to Children's hospital because of that. After test, nothing was figured out why he turned maroon. However, we wanted to go home and this time he's gonna eat. A tube went through the nose passed the stomach into the small intestine. Nutrition would be the most important thing in Adam's life said the pediatrician. Remembering Amanda we decided not the same route. We tried harder to get food in and down. We put the bed at an incline but still the tube won't stay. Okay. Mike decided we would try an eye dropper. Now jump up and down with baby to burp. Okay. Okay, nice big arm chair, lay baby on chest and sleep, start over in two hours. Go!
It's 11 years later March 6, 1999. And even though Adam has less cerebellum than Amanda, he is alive. He worked the tightness out of his muscles. There might be a slight bend in his legs but Mike has leg problems too. Grandma Sabby has long finger and feet. Some of the problems/concerns at birth have worked out. His liver function tests are normal. No projectile vomiting any more. No G-tube he eats pureed food by spoon and will hold a cup as he drinks. How cute when he is done, he lets it fall. He laughs and moves about in a belly crawl with one leg straight and one crooked. When he was diagnosed with CDGS, the eye specialist who had been watching him since 2 or 3 years old read about CDGS and the eye problems. Adam did have a spot in the back of the eye. She thought he was going to be blind. However, November, 1998 she said "his vision has remarkably improved." For two years prior to this statement, his vision stayed the same after years of "getting worse." The spot was gone some years ago, he follows toys, sees what he wants and goes for it.
There are several things I believe have really helped Adam before being diagnosed and after being diagnosed. They are first and foremost, his diet. Second, how Mike played with Adam which ties in with the early and continuous physical, Occupational and Speech Therapies. Third Love from every one who spends time with Adam, especially us as parents and grandparents and caregivers. Keep in mind, Adam was not diagnosed until February, 1973.
Early in Adam's life, his pediatrician and GI Doctor stated that nutrition was the most important thing in Adam's life. It will, hopefully help prevent the liver from further hardening. They didn't know early in Adam's life what was causing the fatty liver. But since the GI Doctor followed Amanda until the end, she had record of the liver problems and performed the final autopsy on it. From the hospital we went home with a tube down the nose. After one day of it not working, Mike said eye drop the formula between the check and gums. We did: three ounce took one hour, two hours rest and then start all over. Prop the mattress up to a slant to prevent food from coming up. This sounds mean but it worked: I held his mouth shut if I heard that horrible gurgle that sometimes prefixed his projectile vomiting. As he grows older, he grows stronger. He thinks and responds. If he doesn't want to eat, he refuses. However, we had to learn he doesn't let you know if he is hungry from day one and through today he has had a feeding schedule. At this point in time, he has minimum of four meals. As soon as mom can get up, he's usually up 5 am, he eats his first meal. Then in four to five hours he eats with the last meal at 8 or 9 pm.
He has a special diet that is prepared a special way and then pureed. He is learning over the years that when he sits in a certain chair, hungry or not he has to eat. We have had worse times when he was so wiggly and happy that his arms were weighted down or that he was wrapped in a blanket to stop the wiggles. Over all these years, when a new person tries to feed him, he laughs and spits the food out. We say that he tests their willingness to challenge him. Who wins? Usually the adult but only after persistence and the war of the wills.
With the feedings going, and the visits to the bewildered doctors who were trying, between ear infections the little guy was growing slowly. Mike like any dad, loved his son and wanted to play with him. They played. My dad came over a lot. I took six months leave from work. This new life was exhausting. The funny thing was that Adam started as a quiet little fellow. Fragile in every way. He was enrolled in the same program that Amanda started in. But what I feel is the most important part is that Mike would treat Adam like a normal kid. He would toss Adam up in the air. Finally, one day giggles. My dad was petrified that Adam would break and dad voiced his displeasure often. However, Mike tossed Adam up higher. Other things Mike would do would be to put Adam in the crawl position and push Adam's legs as if he was crawling. The little face pushed against the carpet thought this was hilarious. More giggles. When diapers were changed, I would grab the skinny, boney legs and roll Adam over his side to his tummy and back. I like to think this helped him understand rolling over. I don't know for sure, but he laughed.
Adam was starting to come out of his quiet non-responsive self as the fun, rough play continued. Private paid therapies helped not school. School is education. At this time, school therapy is limited to 1/2 hour of direct, he is part of a class, or non-direct which is when the teacher talks to mom. I try not to talk to the therapist so he gets the 1/2 hour direct in class. This is per three therapies, OT, PT, SP three times except SP two more times, yeah! The private therapies are PT and SP once a week, one hour with OT joining PT every other week. He is stronger, steadier and tries. His improvements though slow are there. He can sit on his own and catches himself when he tips over. As a baby, he never understood falling over and catching himself in the fall. Plop he went over. He didn't understand pain so he didn't cry when he fell. When I vacuumed, I would put the vacuum against him for a response. None. Now, as time and therapy got the brain going, he falls, he cries. He hears loud noises and if it's grandpa, he laughs. If its the vacuum, he touches it he like vibrating things.
We found he likes rough play, vibrating toys, lights that blink (flicker lights have not brought on seizures) and things that spin. We find rattles that he can bite on and spin the toy with his fingers. When he was small 20-30 pounds, we put in the doorway that bouncy swing like device. He didn't know his feet or arms so we put one pound weights on his all four limbs and Mickey Mouse plastic head slippers on. Some how he found the plastic head of the Mickey slipper and held on while in the bouncy swing. At that point, we feel he found his limbs and start to relate the rest of his body to his limbs.
At one year, although he couldn't hold himself up, I searched for a baby walker. He couldn't hold up his head and couldn't keep himself centered and up right. I looked for a high back walker and found it. Rolled up towels propped him up all around. When he out grown the baby walker, I found a padded one in the $400.00 range in an equipment book. To this day, I search for unusual toys, and gadgets that might stimulate him. I feel that today's society is more handicapped aware and equipment and gadgets are easier to find than they were in 1988 through 1995.
Right now, two big concerns are Adam's partially dislocated right hip and curved spine. Physical therapy has increased to twice a week with the emphasis on stretching the spine and ribs. By mid April, we will find out if the therapy has helped the spine; but the doctor was pretty sure the hip needs surgery.
We've been in the Mannose study since July, 1998. Mike and I both believe Adam shows improvements. For example, the teachers at school during the beginning of the school year mentioned the improvements they saw in Adam. And they asked what happened over the summer to cause the improvements: better health, not sick as often with ear infections or cough, cold symptoms. He shows more interest in figuring out how to make a toy work. His little face shows he is pondering what he sees and trying to figure things out. He has better concentration and is more agreeable and interested in new activities. He lets you take his hands to do the activity and then with a look of wonder he tries to do it al by himself. He also has increased his duration for doing an activity. Before after one or two tries, he did not want to continue. Now he continues until he does it all alone. He can sit up straighter and longer, He stays in the stander longer and doesn't tire as fast. Now, he makes choices. For example: he will climb over barriers to get a toy he wants. Before, he just took what ever toy was closest.
It took some time to be able to write this. But I guess I am finally feeling comfortable with what is happening with Adam. Like every one, I wish I had a "normal" child. Like every one, I want to teach my son or daughter how to be a good person. I'm not angry with what I do have. I take Adam as Adam. That's what I know. I strive to get the best for him so that he experiences happiness. And I think he does. My hope now is that Mannose will help all CDGS people. And that it becomes as easy to get as a vitamin.