The story of Christina Brown
My daughter, Elizabeth turns 2 years old in April. She was born Late-preterm at 35 weeks. She spent about a week and a half in picu after I had to return when we were sent home due to covid patients filling the hospital. She had yellow spinal fluid, protiens that should not have been there. Though they refused to run tests. Months passed and around 5 months old I realized something was wrong. She was having episodes that resembled seizures followed by lethargy and vomiting. I’d take her to the hospital and each time they told me I was either over feeding her. Or it was a food allergy, but deep down I knew it wasn’t. These seizurelike episodes happened once or twice a month. I begged her pediatrician to get me to see a Neuro and she referred me to a Mercy Pediatric Neuro. This Neurologist made me feel crazy. He did 1 eeg. Then told me he will not do genetic testing unless he found something on eeg. I was so upset. By now her episodes were still episodic happening one to two times a month, but they were getting more aggressive. She was having regression in her milestones too. She had an mri which shown excessive gray matter but they did not notice anything else. Well at One year old. Right after her Birthday she had a full one to 2 minute seizure and we rushed her to a farther off hospital, A promedica children’s hospital here in Ohio. They had their neuro come see her. He said that some mri and eeg can be inconclusive even when seizures have occurred. That for now he suspected CVS, cyclic vomiting syndrome. At our second appointment In December 2021. He ordered genetic testing through Invitae. A full epileptic panel, results were taking weeks to return. On new years 2022. Me and my fiance took our girls to his grandmother’s home for dinner. His mom, brother, dad and cousin were also there. Well at this point, she had missed an entire month without an episode so I knew any day that she was gonna have a very bad one. She had suddenly collapsed in front of my mother in law and everyone else and started seizing. I was freaking out at how bad it was. This time it was 15 minutes long, the longest 15 minutes of my life. After it stopped she continued to have painful dystonia, muscle contractions. We rushed home where I dropped My fiance and you gest daughter off and my mom ended up taking me and Elizabeth to the promedica children’s hospital. I was in contact with her new Neuro too. They gave her seizure stop meds and because of how full the hospital was with covid patients, had released us after monitoring her in the pediatric emergency room. That night her genetic results came back. But I could not view them just yet. I was worried. Sunday. Her Neuro called me. He didn’t have to but he did. He told me he wanted to see her immediately on Monday early as possible. That he had a diagnosis of what’s wrong. That her symptoms even line up. When we got there he sat us down. He told us that the Invitae epileptic panels shown she had a symptomatic mutation of the SUOX gene. And it has caused Late-Onset Isolated sulfite oxidase deficiency. A very rare Genetic disease. He explained that he didn’t know much about it and only knew of one other that had it. He did explain that babies born with the classic form almost always died in infancy. That late onset starts between 5 months of age and 18 months and gets worse from there. As we see with Elizabeth. She has seizures, dystonia, eating problems, and more. She doesn’t currently have the dislocated lens, which is causes. So they are going to watch her eyes. I am so scared because I couldn’t find anyone who beat this. The last age listed was a teen. Elizabeth is strong like her older and younger sisters. We all fight for her. She is currently now on seizure meds and seeing specialists.