Matthew was born February of 2006. He was a very happy and healthy baby. He met all of his developmental milestones. He walked at 10 months and learned to talk at an early age. Matthew was a very bright toddler and liked to build things with his hands. He could ride his bike with training wheels very well. He was such a happy, smart, and well-behaved young boy. Many people commented on how happy he was.
Matthew started to preschool the fall before he turned 4-years old. His teachers didn’t see any issues with his development. He was doing very well in preschool and was very eager to get up to go to school every morning.
All of that changed about a month before Matthew’s 4th birthday (January 2010). Suddenly, he became very fussy and very difficult to wake up in the morning. There were a couple of mornings that his skin color was pale with a bluish tint and he wouldn't wake up for a while. Many days he was so upset we couldn’t get him out of the car to go to school. He no longer wanted to play or ride his bike and refused to go outside if the sun was shining.
Around the same time we noticed a few incidents when he would look like he was going to fall but he would catch himself. Sometimes his head would slightly nod or he would “blank out” for a split second. We took him to the doctor to see what was going on. We were told that he had ear infection and he was treated with antibiotics. I had a nagging feeling that the strange incidents might be seizures so I mentioned it to our nurse during the appointment. She referred us to a pediatric neurologist. We had to wait several weeks for the first appointment. During the next few weeks, we started to notice that his arms would rise up suddenly. Sometimes immediately after his arms would rise, his head would nod. We noticed more of the brief blank stares.
His first EEG was almost normal. There was one incident that the neurologist said he almost missed on the first EEG because it was so brief. The pediatric neurologist prescribed a medication that had been discontinued so we decided to seek a second opinion before starting medication.
We saw the next pediatric neurologist about a month later. Matthew had a 24-hour video EEG and many incidents were recorded in the EEG. During the sleep portion of the EEG, Matthew appeared to be resting very peacefully. We were shocked to learn that Matthew’s seizures were so bad during sleep that he was seizing almost continuously. The technician who performed the EEG told us that it was “very bad”, and she said it’s possible that he could die in his sleep, so she recommended that we sleep with him.
Matthew received a prescription for Depakote and we were told to come back in 3 months. Unfortunately, the depakote didn’t stop the seizures and every time we would try to increase the dosage, his seizures would become more forceful.
During that time, we started searching for another pediatric neurologist. We also started reading everything that we could about seizures and epilepsy. We both came across the Doose web site on the internet and suspected that Matthew might have Doose Syndrome. We really didn’t want to believe it could be Doose because at the time Matthew didn’t appear to have any developmental delays.
We ended up seeing 5 pediatric neurologists and each time it was a 1-3 month wait to see the neurologist. Every neurologist that we saw prescribed more medication, even though medication always seemed to make Matthew worse.
Finally we found a doctor who took the time to really examine Matthew. She saw some of his seizures during the office visit and told us that he looked like a classic case of Doose Syndrome. She ordered a 24-hour video EEG and increased his dose of Depakote.
After the first day of the EEG, we were told that Matthew had electrical status epilepticus in sleep (ESES) and Doose Syndrome. The prognosis for ESES was “devastating”. We learned that he could lose his ability to speak or understand language and it could lead to retardation. Matthew was admitted to the children’s hospital and treated with high doses of Valium at bedtime as an attempt to stop the ESES.
During this hospital stay, we also met with a dietician who specialized in epilepsy and Matthew started the low glycemic diet. His carbohydrate intake was restricted to 10 grams of carbohydrates per meal and we fed him a lot of fat for calories.
Matthew stayed in the hospital nearly a week. His EEG still showed that he still had electrical status epilepticus in sleep when he was discharged. Matthew appeared to be very medicated and was “out of it” most of the time. He had difficulty walking after his Valium dose and we had to stay in the bed with him to prevent him from rolling off. He had some of his worst seizures during this time and we felt like we were losing our son.
After 3 weeks on the high dose of Valium, we started to taper his dose. He began improving immediately and we didn’t see any daytime seizures for nearly a month.
Soon, the seizures returned and started getting worse again. We went for a follow-up visit and we tried increasing the Depakote again. The higher doses of Depakote increased the intensity of the seizures so we decided to reduce the dose again.
We started noticing developmental issues. Matthew's speech was getting much worse and he became very difficult to understand. He also couldn’t distinguish between many letter sounds that he knew prior to the seizures. He could no longer ride a bicycle well because he has trouble steering and peddling at the same time, a skill that he could do very well a few months earlier. He had trouble using his hands. He also had issues with balance and it became very difficult for him to climb stairs.
Matthew was admitted to the hospital again early in 2011 to check to see if he still had electric status epilepticus in sleep. We learned that the status was gone but he still had many seizures. During the video EEG, we counted about 100 seizures in one afternoon.
Matthew’s neurologist advised us that the best treatment for his condition is the ketogenic diet. We knew that the diet would be difficult. However, we were ready to accept the challenge if that meant Matthew might have a chance for a normal life later on down the road.
Matthew has been on the ketogenic diet since February 2011. Currently he’s on a 2.5:1 ratio and is no longer taking any medication. We’re only seeing a few brief seizures per day. Matthew is much happier now and we believe the diet has helped him tremendously. The diet has been a huge commitment but it has been worth it because he has improved so much.
We are so thankful for the ketogenic diet because we have seen so much progress since Matthew started the diet. We are also very thankful for the Doose Syndrome online support group. We have learned so much from other parents who have been through this before us. Our greatest regret is that we didn’t find a doctor who was familiar with Doose Syndrome and the ketogenic diet sooner.
Matthew started to kindergarten last fall. He is in a regular classroom and is doing well in school. Matthew currently has delays in speech and fine motor skills and is receiving therapy. Prior to the ketogenic diet, he had delays in his gross motor skills as well, but he is currently above average in that area. We are hopeful that he will catch up to his peers in the other areas eventually.