Our reason for starting this web page is in honor of our dear daughter, Savannah Elizabeth and her going home to heaven after her battle with Alpers Syndrome, a Mitochondrial Disease.
Savannah is a beautiful red-headed 17-year-old teenager who loved life and loved children. Like most kids, she grew up with a couple medical issues but nothing out of the ordinary. At the young age of two or three, she started having migraines, but they were only about once a month and didn’t last very long. About the same age she started having some hypoglycemic issues, but we treated the incidents as they came. Savannah’s father had migraines as a child and her grandmother is a diabetic so we didn’t read much into either symptom, and neither did her doctors. We also noticed that Savannah had an exercise intolerence that we blamed on lack of Physical Education due to being a homeschooled child. Savannah had a heat intolerence, but the heat bothered me (her mother) also, so again we didn't read too much into those things either.
At age 13, Savannah started having some sleeping episodes and after many different diagnosis' (many of the doctors tried to say depression) she was diagnosed at the Iowa City Clinics in Iowa City, IA with Klein Levin Syndrome, a rare but debilitating disorder also called "Sleeping Beauty Syndrome". These episodes were intermittent from October, 2003 to March, 2007. Savannah had episodes where she would sleep for about a week, only to get up to eat and use the restroom. These episodes were very upsetting to her and our family as she couldn’t remember what went on during these week-long episodes. The episodes were getting better and less frequent, once with a year between episodes and nine months between another. Other than these symptoms, our family didn't notice any clues that she had Alpers Syndrome. We had no idea that my husband, Rolland, carried three recessive genes and that I, Willie, carried one recessive gene that we passed onto our dear daughter and three genes to our wonderful son Micah. What a kick in the gut to find out we carried a gene that caused our daughter’s death. We didn’t know. After talking to other parents who have lost their children to Alpers also, they didn't have a clue they were carrying these recessive genes either.
Our daughter started having seizures on May 2nd, 2007. Please understand she had never had any before. On May 3rd, she was sent home from the hospital being told she had Epilepsy. On May 5th she started having seizures that wouldn't stop. On May 6th, 2007 she was put into a medically-induced coma with a medicine called Pentibarbitol to protect her brain from damage caused by the seizures. Savannah was in a coma for exactly three months before her going home to Heaven at age 17. During the time in this coma Savannah's body went through so much. She had stomach issues and ended up with an illiostomy. She had numerous infections in her lungs and her trach after having a breathing tube put in. She had blood clots in her legs and stomach. After that, her body was bleeding too easily. From all the seizure meds, she had to go through a process where they removed her blood and cleaned it and pumped it back in her. We saw our daughter go through so much torment in three months, it was unbelievable. Savannah had Alpers Syndrome but her initial cause of death was liver failure from toxic levels of seizure meds. We believe that Savannah would have lived longer if the doctors had known about her mitochondrial disease. If the doctors had known upfront (and not after her autopsy) that they were dealing with a Mitochondrial Disease, then she would have been sent to the appropriate hospital and had been treated differently, that she would have lived longer.
In the days leading up to her initial seizures.....
Before May 2nd, we had just moved. While we were unpacking for the three weeks before her seizures, she had episodes where she was always hungry, but she was working hard so we figured it was just low blood sugar. Other than that symptom, Savannah had no symptoms until the seizures that would point towards Alpers. Even during her three month stay at the St. Paul Children's Hospital in the PICU, she was a ‘mystery patient’. The only diagnosis we were given at the beginning was Encephalitis and then toward the end we were also told Wilson’s Disease was the cause of her illness, but that was also incorrect. Savannah was on so many medicines including six different seizure meds, just for the seizures alone. At one time we counted 25 different medicines that they were giving her. We were not given the information about Alpers Syndrome until receiving her autopsy results in December, 2007. Then at that time we had our sons tested. We were told the test for Alpers was called POLG, where they took blood samples from Rolland and I and Savannahs siblings. We had to wait approximately six weeks not knowing if we would lose our son Micah also. We feel very blessed to have had Savannah for 17 years as we were told 80% of children with Alpers only make it to about two years of age. Only 20% make it up to the age of 25. But most of those patients have symptoms early in life. Our daughter was not the norm.
Our hope is to educate doctors, hospitals, and families on this horrible disease and raise money for mitochondrial disease research. We don't want to see other children go through all of the torment that our daughter went through, or to have other parents watch their children suffer and die.