Almost two years ago on September 30, 2011 my little princess broke free to the world. Seeing her for the first time was love at first sight! After bringing Desiree home I had a feeling something was just not right. She cried all the time and would stay up for 14 hours straight. I was a first time mom but I knew something just was not right. After taking her to the doctor so many times everyone thought she was colic. One day I noticed Desirae was making weird movements. I remember telling my mother that it was like when you rub a dog’s belly, it lifts its legs and twitches real fast, that’s exactly what it looked like to me. So I brought my princess to the ER. Her condition worsened from being like this once a day to 5-6 times a day, and she was diagnosed with a seizure disorder. She was put on Phenobarbital. It worked for about 4 weeks or so. Then around Christmas she started having seizures that looked different from the previous ones she had had. After video taping them and bringing her into sick kids in Toronto, a doctor had the nerve to tell me he thought my princess was misdiagnosed and that he thought she was self stimulating herself! After trying so many different medicines and numerous EEGs, she was diagnosed with infantile spasms. It was my worst nightmare.

These were the type of seizures she was having since she was three months old. But they did not show on EEG until she was about 10 months old. After trying the Vigabitrin and oral steroids, none of which helped, we had to “pull out the big guns”–the ACTH treatment. After about two weeks of shots Desiree’s EEG went back to just regular seizure activity.

No more IS. Desirae’s doctors thought she might have Cortical Dysplasia. With her seizure still not under control and developmental delays her doctors put in a referral for epilepsy surgery. In the meantime, they ruled out all genetic disorders. We found out what she was suffering from after staying for a week at McMasters children’s hospital in Hamilton, Ontario, where we had gone for a video EEG of the surgery. My little princess has a rare genetic mutation called CDKL5. Her doctors told me the type or position that was found in Desiree has not been documented before in any other child!

The mutation was found in the CDKL5 gene on chromosome X at position 18593510, there was a substitution of Thiamine for Cytosine (these are two of the base pairs that make up DNA). This change in base pair (substitution) lead to an amino acid change which they stated was p.L61P. Presently, there is NO cure and not a whole lot of research that has been done. So I don’t get too many answers for what is to come for my little princess. All I can do is have hope and live day by day trying to make her life as good as I can until one day when someone will have all the answers and hopefully, a cure.

Written by: Jessica. Jardine (Parent)