Medications

While currently there is no cure for CDKL5, there are various pharmaceutical options to address the effects of living with a CDKL5 mutation such as epilepsy and gastrointestinal issues.  Below is a list of options that we have used for Sonzee for both epilepsy and her gastrointestinal issues, however, there are different options available and it is always best to discuss all options with your child's provider.

Epilepsy Management:

Levetiracetam: Brand name is Keppra:  This was initially the first medication prescribed to Sonzee when she developed seizures, however, during her video EEG it was thought that she was experiencing a rare reaction so it was discontinued until she was 8 weeks old.  She has been on this drug since that time, so we do not know what side effects might be due to this medication because we do not know Sonzee without her being on it.

We have tried to wean her multiple times, but her seizure activity increases every time, therefore we have kept her on it.

Topiramate: Brand name is Topamax:  This was technically the second medication prescribed to Sonzee, but after the levetiracetam was discontinued, she remained on this medication until she was 11 months old.  This drug worked well to keep her EEG background clear, but we felt (at the time) it was contributing to her weight loss and failure to thrive.  We can now say, this was most likely not the case.  This medication has a nickname of "dopamax", and we can attest to the fact that it did lower Sonzee's reaction times as well as overall cognitive capabilities.  This was evident during the wean as well as after she was off of the medication.  However, this did do a good job (in retrospect) of keeping her seizures in some semblance of control.

Prednisolone:  This medication was used for Sonzee when she developed Infantile Spasms as well as hypsarrhythmia.  She began on 40mg per day for a week, and then went to 60mg per day for 2 weeks, followed by weaning over a 8 week period of 50mg/day for a week, 40mg/day for a week, 30mg/day for a week, 20mg/day for a week, 10mg/day for a week, 5mg/day for a week.  She had some brief relief of the infantile spasms following this treatment, however her EEG background has never returned to normal.



Gastrointestinal Management:

Sonzee's Slideshow