As you can imagine having a child with disabilities is very overwhelming. You have your family/friends and even strangers you meet telling you to see this specialist or that doctor or try this therapy. With the cost of insurance, co-pays, time away from work, loss of work, doing every recommendation is almost impossible. We listened and researched every advice given to us.
Gianna's neurologist at the time didn't really think Gianna had any future. He told us to "go home and focus our attention on having another child". "the possibility of children with this severity of seizures usually don't make it past age 2 and we are lucky if she would make it till age 5". We don't know why doctors do this, try to bring parents down at our lowest point. Looking back now, he probably was just trying to be honest and this was his bedside manner of fact. We have always believed that just because it is or isn't in a text book, doesn't mean it is or isn't possible. New theories/advances and new explorations of the brain are being discovered that were once thought impossible. We have never stopped believing in Gianna. She is always surprising us. Gianna is amazing, strong and believes she can too.
CDG (Congenital Disorders of Glycosylation) is a genetic metabolic disorder caused by defective synthesis of N-linked oligosaccharides. Incorrect synthesis affects the overall biologic functions for every cell stability and communication. The subtype and severity varies from child to child. CDG is caused by defects any one of 100’s of genes used to make or add sugar chains on many thousands of proteins in the body. Without these sugar chains the proteins don’t work normally. Even children with the same type can have different appearances and severity, and that makes it hard for doctors to recognize.
Click to learn about CDG:
When Gianna was a born, we didn't know she had any problems. Gianna was a normal delivery, attentive to voices and had no feeding problems the day she was born. Before being released from the hospital, a routine Hep B shot was given. (2 days old). The following day, she wouldn't eat/latch on, and would not stop crying. The Doctor told us she had mild jaundice and a colicky baby. The doctors gave us Zantac, and told us she had GERD. Within the next 5 months, we were in/out of the doctor’s office due to reflux/gerd, constant crying/colicky and feeding issues.
Gianna's onset of seizures started immediately after her first set of immunizations shots at 2 months old. That was when the eye rolling started. The twitching began after the 2nd set (4 months) and she had her first grand-mal seizure. The ER said it was febrile. The 3rd set (6 months), the grad-mal began to become frequent. Gianna was in/out of the hospital every few weeks from uncontrolled seizures and pneumonia due to aspiration issues. Gianna was diagnosed with epilepsy at 6 months old and was given Phenobarbital. She had difficulty swallowing and couldn't handle her own saliva. We had to suction her constantly to avoid aspiration pneumonia. Gianna lost all head control, didn't reach for toys, hands were always clenched into fist, and stopped rolling on the floor. Gianna's pediatrician was concerned because her arms were continuously in extension and she no longer showed any eye contact.
At 10 months, she was fed only by G-tube, had a variety of seizures lasting 30 seconds to 5 minutes up to 100++ seizures a day and would become lethargic after each seizure. Any body stress such as illness, over-tired and even temperature change would increase her seizure activity. Gianna was shown to have a broad range of seizures all over the brain. The majority of her seizures were a-typical absence associated with Lennox Gastaut Syndrome (LGS). We went to every specialist imaginable with no luck finding an underlining diagnosis. Since Gianna didn’t show any characteristics of any known metabolic disorder, they suspected that she created her own disorder unique to her. Gianna had severe developmental delay, could not eat by mouth due to aspiration issues, subject to re-occurring illness, hypotonic, reflux, would not use her hands, did not give you eye contact and had no head control. Doctors told us that Gianna would never be “normal” and most likely would not live past 5. At age 1, we switched pediatricians and discontinued her vaccinations. Although we know today that the vaccination shots were not the cause of her disorder, we feel that it contributed to the severity.
At 1 ½ years old, we were still on a mission to find her diagnosis. We think having this mission helped our healing process of getting through knowing our little girl wasn’t getting better and might not make it. Due to Gianna's swallowing issues, we only fed her during Vital Stim therapy. Vital Stim is a non-invasive external electrical stimulation therapy to help muscle strengthening and swallowing. It was during this feeding time, we noticed when we gave Gianna foods high in carbohydrates/sugars, she would have these larger, longer tonic clonic seizures where she would turn blue. As parents, we felt she had to have an underlining condition where she couldn't process these types of foods. With the help of her Metabolic Doctor, this finally led us to the Diagnosis of CDG. At age 2 1/2, Gianna was diagnosed with CDG. (Congenital Disorders of Glycosylation) Type 1/subtype unknown. Age 8, Gianna was Diagnosed with CDG1k (subtype k).