This blog is about our journey as a family moving forward; however, I know that some have questions about Jack’s struggles and other health conditions. I am going to quickly define them in hopes that it helps create the big picture and to maybe help others who may have some of the same issues.
At a year old Jack was diagnosed with Pancreatic Insufficiency which means that his exocrine pancreas does not function. It is 90% deficient in producing digestive enzymes which requires him to take manufactured enzymes before he eats anything. These enzymes allow him to absorb nutrition from his food and help him to digest. We have now done two pancreatic stimulation tests that actually measure the amount of enzymes being produced. Pancreatic Insufficiency is a key genetic indicator for Cystic Fibrosis, Shwachmann Diamond Syndrome and a few other disorders. Jack did sweat chloride testing, a skeletal survey and a genetic testing to rule out all of these disorders. I’ll never forget the day they called to tell me that his skeletal survey showed bilateral polydactyly. I was so upset until I figured out that it meant that his pinkies are slightly curved on both sides. He’s also done a chromosome microarray to look for any additions or deletions to his genetic makeup.
Due to the lack of nutrients that he is able to absorb even with enzymes has iron deficient anemia and struggles to regulate fat soluble vitamins requiring special vitamins made for kids with Cystic Fibrosis with poor absorption along with iron supplements. He has been diagnosed with failure to thrive and we try to cram nutrition into him at every opportunity. He drinks 1-2 Pediasure 1.5’s a day wich contain 350 calories per serving.
Eosinophillic Espophagitis is our most recent diagnosis. This was found through routine biopsies done during an endoscopy to check his pancreas function. This is an immune response in his esophagus which builds a wall of cells in rings. This inhibits swallowing and constricts the esophagus. He currently takes Prilosec in hopes that it will help. He will repeat the biopsies in October and if the cells are still present he will undergo allergy testing to try to find out if there is an allergy causing this response.
Periventricular Leukomalacia is another brain abnormality that Jack has. This is where the white matter in the brain is damaged around the ventricles where blood enters into the brain. This is most often found in premies and/or from stroke or lack of oxygen at birth. I had an uncomplicated pregnancy and delivery and Jack was born a day before his due date. We may never know exactly what caused this, we have been told that a stroke inutero is the most likely cause.
Cerebral Palsy, left hemiparisis. This comes from the damage from the PVL which is on the right side of his brain, leaving the left side as a weakened side of the body. He goes to weekly therapy to work on fine motor skills, strength, coordination and endurance. He also has hand tremors that tire him out as well as make life difficult to eat or color or do any task that requires a steady hand. He fatiges very quickly because he's always fighting against his own body to make his hands and legs work right.
Complex Partial Epilepsy with Secondary Generalization was discovered though observation of his seizures, and through EEG’s. Electroencephalography (EEG) is where they attach electrodes to his head and it monitors his brain waves. This test detects slowing and spiking in his brain waves and is able to detect what area of his brain is creating these signals. He has had two 30 minute EEG’s, and a 24 and 48 hour VEEG where they video tape him as well as reading the brain waves. Although we’ve only been able to capture one seizure, his results are always abnormal. Jack currently takes Trileptal and Valium for his seizures. He’s tried several other medications without success and still has “bleed through” seizures.
Mesial Sclerosis was discovered over three years of MRI imaging. Jack has had evolving change to his hippocampus volume, which is currently low and uneven. This is the diagnosis that has sent us for a surgical option for his epilepsy. This is scarring of the brain that is occurring because of all of the seizures that he’s having. Even when we aren’t seeing seizures, his brain is creating abnormal electrical activity that is causing scaring. This scarring generates more abnormal activity and is impairing his memory, facial recognition, impulsivity, fine motor skills and emotional regulation. This is an issue that will not resolve itself and will only progress. I am told that this type of scarring is typically found in middle age adults who have suffered temporal lobe epilepsy their whole lives.
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