Diagnosed: October 2011 at age 7
Location: Canada

“For the longest time I had thought she was autistic with a seizure disorder.”

Tia was born five days overdue.

It was a routine weekly check up and being five days overdue I was sent off for an ultrasound, which showed that my amniotic fluid was low. My obstetrician gynecologist sent me right away to the hospital, which was two buildings over. All I could think of at that moment was that I had not washed my hair in the morning. If only I knew what lay ahead.

Labor had to be induced via Pitocin and my beautiful baby was born weighing 6 pounds, 2.5 ounces. She latched on right away and was breastfed until she was 3 years old. We were discharged from the hospital after two days, Tia passed the hospital newborn hearing screening and no red flags were raised with any of the other routine hospital testing.

Like most new first time mothers I had a book that outlined a baby’s development and Tia was right on target. The only thing that seemed off was that she did not use her hands and she would clasp them together a lot, or clench them with her thumb facing upwards. I remember asking my mom why Tia did not grab her yellow ducky when in the bath and she told me not to worry, Tia will when she is ready, and that every kid is different. Tia started having staring spells when she was around 4 months of age (I suspect they started earlier but I never noticed). I did not think much about them because I had never seen a seizure before and did not know anyone who was epileptic. One evening we went over to my parents’ home for dinner and while sitting in the family room, Tia turned her head upwards and to the right and would not refocus on us no matter how much we called her name. We even tried to physically turn her head, but it was fixed into position. I knew something was wrong but I never voiced my feelings, because soon after Tia was her normal, happy, giggly self again.

A few days later while breastfeeding Tia she had her first cluster seizure. It was short, about five minutes but I knew it was a seizure even though I had never seen a seizure in my life before, not even on TV. She was 4 months old. We went to her pediatrician who sent us to the hospital where we did a CT scan and an EEG, which both came back normal. Tia continued to have seizures daily and I continued to call the pediatrician’s office. The secretary finally got fed up with me and said that if I thought she was having seizures after her testing came back normal, then I should take her to the ER. Somehow I thought the seizures would stop. When she was 5 months old, one day she continued to seize constantly for about 24 hours. I took her to the ER and she was diagnosed with a seizure disorder and was put on Phenobarbital.

At approximately 14 months of age Tia developed infantile spasms (modified hypsarrhythmia) and was put on Vigabatrin. This made her seizures worse, and she was then put on ACTH. The ACTH stopped the infantile spasms and she went from not being able to sit independently at 12 months of age to walking at 21 months of age.

At 2.5 years of age Tia had bilateral strabismus surgery done for her lazy eye. By this time many tests were run on Tia to explain her delays and seizure disorder but they all came back normal. At age 5 Tia was diagnosed with Autism and shortly thereafter DD (Development Disability). We started a home-based autism therapy program and I started to research and learn more about autism. The more I learned, the more I realized that Tia wasn’t just autistic, but the autism was a symptom of something bigger. But what?

In the summer of 2011 Tia’s neurologist suggested we test for CDKL5, which was a Rett-like disorder. He didn’t think she clinically presented with this disorder but the red flag was the early onset of difficult-to-control seizures. We agreed, and Tia’s blood was sent off for testing. Two months later we were called in to speak about the results. To all our amazement, Tia tested positive, she carried a deletion in the CDKL5 gene. For the longest time, I had thought she was autistic with a seizure disorder.

Now we know. Now we can put a name to her condition. Although there is no cure, at least we know what we are dealing with.

Written by: Sangeeta Staley (Parent)