We have a son, James, who just turned 4 on October 25, 1996, who was diagnosed with CDGS when he was 8 months old. He has always caused the doctors to scratch their heads a few times. From birth on he just never gained weight. The doctors ran all kinds of tests and nothing ever really showed up specifically.
When he was 6 weeks old they put him on a feeding machine to hopefully help him to gain weight. When this was unsuccessful they forwarded us on to a specialist in Omaha, Nebraska when he was 4 months old. At that time we were seen by an endocrinologist because of the thyroid problems. When they were running tests they noticed he had low blood sugar and was hypoglycemic. So he was then admitted and spent 3 weeks there undergoing tests. Everything kept pointing to the liver because it was enlarged and liver functions were not normal and the blood sugars were not normal. They were also concerned about the fatty deposits. But after doing biopsies and other tests they sent us home not knowing much but to keep him on the feeding machine to keep his blood sugars up and hopefully gain weight. They would frequently call and want some more blood to be sent someplace else. They kept telling us that they were looking at a glycogen storage defect in the liver and he would probably need a liver transplant. One of the last blood test they sent in, a different doctor looked at James’ case, and wanted him tested for CDGS because he sounded familiar and he had just read about it. Then about 3 weeks later we received the news that he did indeed have CDGS. The doctors have never really given us any information they just basically treat his symptoms when he is sick and told us there was not much information and it was just too rare.
He was hospitalized a lot. In 1995 he was in at least once a month with vomiting. Because he gets low blood sugars he required to be hospitalized each time he gets sick. In April 1995 he still has the doctors puzzled. He was admitted to the hospital with a high fever and vomiting. After 24 hours and the fever not going down they sent us on to Omaha, NE. After getting there he had a seizure and he was sent directly to Intensive Care. After the seizure he did not use his right side so they thought that he must have had a stroke. After running an EEG and MRI they did not show that. Soon thereafter they determined he had gone into DIC (disseminated intravascular coagulation). This is when the blood does not clot inside you so you are basically bleeding to death. They treated the DIC and miracles happened because he started to respond. In the first information they gave us on CDGS it talked about the kids having “stroke-like” episodes. They assume this is what happened when he did not use his right side. About a week after being admitted he was using his right side again and was pretty much back to himself. They have continued to study the coagulation of his blood. I hope maybe this information will be helpful to some of the other families. As far as medications, he is on Synthroid, Hydrocortisone, Phenobarb, Carnitor, and Diaxiode. They are trying to take him off the Phenobarb. Two of the medications are for the low blood sugar.
As far as his abilities, he has just mastered sitting up and is trying real hard to crawl. Most of his time is spent rolling all over the house to get what he wants. His diet consists of Pediasure with fiber every two hours down his G-Tube and on the continuous drip at night. When trying to feed him food he just gags and throws it up. He has no deformities other than at birth he had inverted nipples and his testicles were undescended. The testicles came down on their own with no surgery. His legs are very skinny with almost no meat on them. He still only weighs about 24 pounds and just doesn’t seem to gain any weight. He weighed about the same for 2 years. He is getting longer but not any more pounds. He has two older sisters, Jessica who is 10 and Jenna who is 7. They are both a big help with him. He now attends a special preschool two mornings a week and really loves the interaction. One of his best pastimes is watching TV and about any toy that makes noise. He is always a happy child and usually smiling.
We both work full time so it’s hard to get any benefits for the child because they always tell us he goes over the income limit. But when he was a year old we were told that he could qualify for a waiver program through the State of Nebraska. With this they only look at the child’s disabilities and not the parents at all. With the program he qualifies for a Medicaid waiver and his daycare during the day is paid for plus we get about 30 hours of respite for nights and weekends. Since his daycare provider is being paid $5.00 per hour she watches only him. This way he is not exposed to alot of different illnesses. Although we have very good insurance anything our insurance does not pay for the Medicaid waiver will pick up, whether it be medical bills, equipment, Pediasure or even diapers. It’s very reassuring when you have one less thing to worry about. Maybe other parents could look into this. I don’t know how it varies from state to state.
We so very much enjoyed reading your newsletter. You feel so isolated when no on has even heard of what your child has. The teachers and therapists also get frustrated not knowing what areas they should work with him that he might excel more than others. In reading about other children and what they are capable of doing I think will help them also.
eff: 1998