Kyle’s Story (SCAD)
My husband and I have been blessed with three wonderful boys. My oldest child, Matthew, was very healthy and met all developmental milestones early. My middle child, Kyle has been diagnosed with SCAD. Kyle was born November 22, 1993 by cesarean section at 38 weeks gestation due to my gestational diabetes. Kyle was 7lb 6 oz and appeared to be a healthy newborn. He was a poor eater in the hospital but the nursing staff and doctors just felt that he was off to a slow start. From the time we brought him home from the hospital, Kyle was very fussy. He cried inconsolably several times a day.
Within 3-4 weeks of life, he began the “projectile vomiting.” It seemed that it would come up by the bucket full. Soon I learned that Kyle could not be laid flat on the floor or in bed because it would cause him to cry and vomit. His Pediatrician gave him medication for Reflux. Kyle spent the first year of his life sleeping half the night in a car seat and the other half of the night in an infant swing. Sometimes, he would cry all through the night. It was obvious that he was having pain because he would pull his legs as close to his chest as he could. The Pediatrician wasn’t concerned. In fact, she told me that Kyle was a “high needs child” and that I should wait 4 years before I had another baby.
Kyle had his first seizure at 9 months of age. I walked in the kitchen to find him blue and limp on my floor. The Pediatrician told me that it was breath holding. It was apparent that Kyle was lagging on his developmental milestones. When he was 12 months old, his pediatrician referred us to an early childhood intervention program. Kyle did not walk until 18 months old. His speech was seriously delayed. Kyle began receiving speech therapy at 2 years of age and continues to receive this service. The “breath holding” continued and worsened. He was having “episodes” several times a week. It got to the point where he would turn blue, fall to the ground, make a funny noise while having a wide-open dead stare. Finally, when Kyle was 2 1/2 years of age, a new Pediatrician referred us to a neurologist. As we suspected, the diagnosis was seizure disorder. The EEG showed definite seizure activity. Kyle was immediately put on Depakote, which did control the seizures.
Doctors told us that the developmental delays, hypotonia and seizures were not in any way related to the other. He was diagnosed as having idiopathic developmental delay and seizure disorder. We continued to ask questions and press physicians. It didn’t add up that his problems were not related and we were not going to accept it as an answer. After all, there was not a history of developmental delay or seizure disorder in either of our families and how could a child have so many problems, none of which were related.
We noticed that Kyle fatigued very easily. He was our “couch potato.” When Kyle was 4, we went to a developmental physician for a second opinion. By this time Kyle had developed a very noticeable tremor. As a result of seeking the second opinion, Kyle’s neurologist told us about metabolic testing. Immediately, we said we wanted it. The neurologist told us that he was certain that Kyle did not have a metabolic disorder, as they are so rare and that the testing would be very expensive. We went ahead with the testing and one month later, on my birthday, the neurologist called to say the tests indeed indicated a metabolic problem.
Kyle’s alanine level was very elevated. As a result, the doctors believed that he had a mitrochondrial disorder possibly involving the respiratory chain. When we finally found out that Kyle had a metabolic problem, we were 3 months pregnant with our third son so we were also very worried about whether or not he would be affected. Kyle had an open muscle biopsy and skin biopsy at Oregon Health Sciences University. Approximately one year later, we found out the diagnosis ~ SCAD. Kyle’s skin cells had been sent to Denmark, Amsterdam and Ontario and the diagnosis was confirmed.
Normal childhood illness such as colds and flu would last for weeks and leave Kyle with no energy. His tremors were more noticeable, and we would see an increase in seizure activity. School would report during these times that Kyle couldn’t function at school.
Kyle has always suffered from stomach problems. He was weaned off his reflux medicine when he was a year old. We thought the problem had resolved. Last summer at age 6 we had a pH probe done (insert probe down nose to tip of stomach) and found out that Kyle continued to suffer from severe gastrointestinal reflux. Because he was eating solids, which were heavier, he wasn’t throwing up like he did as a baby. Kyle had a Nissen procedure done and a gastrostomy tube placed in August of 2000.
Out of concern for Kyle’s declining health, I looked for other options. I found Dr. Roe’s study at Baylor University. Kyle began participating on my birthday in August of 2000. Upon admission, Dr. Roe found Kyle’s liver to be enlarged, his muscles weak, his eye movement abnormal and his body fat percentage to be abnormally high. Since initiation of the treatment, we have seen an increase in Kyle’s energy, and he is better able to fight infection. Kyle continues to suffer developmental delays. He is in regular education but receives special education services to help with academic tasks and he receives speech, occupational and physical therapy. Kyle is learning to read and enjoys playing with his friends. Kyle continues to suffer from occasional seizures, tremor, hypotonia and stomach pain.
I believe with all my heart that if Kyle’s disorder were detected earlier, through expanded NBS, Kyle would not have the severity of the symptoms that he has now. I am a strong advocate of NBS. In fact, the hospital in the town in which we live has agreed to pay for every baby born in that hospital (at no charge to the family) during the next year, to receive newborn screening, to be conducted by Baylor. This is a step in the right direction. I know we are truly blessed when I say that my other two children are without symptoms of the disorder. Because the phenotypes for SCAD are not known, we are not able to determine if the other two children are carriers or unaffected. Hopefully in the future we will have that valuable information.