Rebecca

IMG_6486.jpg

Emma (now 8) was officially diagnosed with autism at age 5. This is after we went to a different OT almost every year. Speech was the issue. In kindergarten she had some eye fluttering.... we saw it but didn’t think much of it.
 
In 2020 while being stuck home due to covid we noticed that she blanked out for small periods of time.  We went to a psychiatrist, but it did not avail much. The Friday before the doctor appointment she had her first, full, Tonic-Clonic seizure. The Monday at the doctor's office she had the second full Tonic-Clonic seizure. We were admitted to the hospital and she had all the tests done. The MRI was clean, but the EEG test showed generalized epilepsy with frontal focus.  She started on medication immediately, first only Epilum. Emma also started to develop a form of heavy breathing and hyperventilated almost constantly, especially when she was concentrating of watching stories. No one could explain this behaviour. We think it has to do with anxiousness and over stimulation. It really only stops while she is sleeping. We tried breathing exercises, but nothing has helped this far.
 
She kept fitting but at least it wasn’t full tonic clonic seizures all the time... she would just fall and jerk...stand up and continue with what she was busy but unaware or what happened. But her school work regressed immensely. We went to a paediatric neurologist and his conclusion was that she had medication-resistant epilepsy and he increased the medication. Emma became absent minded and had intense anger fits! It was a horrible time for us all.
 
In January of 2021 we got a new paediatrician and she noted that Emma’s epilepsy was not under control as she still had numerous drop attacks. Emma continued having drop attacks.... between 30 to 40 a day... her legs and knees and bum had marks on it constantly and she couldn’t contribute to any schoolwork. 
 
In June 2021 our amazing Dr said we should do genetic tests.  And voila, CHD2 was found.  It ticked ALL the boxes...finally we understood the strange image. Still the drop fits continued, and we adjusted meds again and again.
 
In December we started her on Keto diet and CBD drops....and the results were just astonishing. After all the adjustments of medication, which only seemed to make things worse, we went back to original meds. Started 2022 with an Alert 8-year-old who fell once a week and could contribute at school.     
 
We are however not in a mainstream school; she is with a tutor who works with her on an individualized basis.  
 
We are still not sure what the future holds...The epilepsy and autism combination is however an intertwined combo and very difficult.
 
But we Pray and Believe. We are thankful for an amazing support group; it is always amazing to see others understanding and helping.