Tell us about yourself and the patient in your life:
Yasemin was born in June 2015 as a healthy child. She is 6 years old now. She had her first seizure just after her first month. We went to a pediatric neurologist right after and our journey with her started.
We tried different AED combinations, ketogenic diet for almost two years, CBD oil. Many genetic and metabolic tests applied on our angel. But the reason of her illness could not be found until one year ago. In our last clinic visit her neuro wanted to repeat the wes test with the same sample she gave 3 years ago. This time we are diagnosed with SMCA1 gene mutation.
She is mentally very much delayed and cannot walk. Her seizure clusters happen 3 or 4 days and it takes a few more days for her to get better. Then she is at least 15 days free of seizure. Those intervals are sometimes more which makes us happy. Other than seizures she has reflux in her stomach and kidneys. We are feeding her orally. It is only difficult during her seizures period to feed her. Her sleep cycle is irregular. Sometimes she sleeps a lot, sometimes she does not sleep for days. We are only using trileptal for almost 3 years as AED.
It is so nice to be in this wonderful group. I found lots of useful info here and feel the support of all families.
She has a brother and a sister. She loves to hear their voices. She is our protective angel. We are happy when she smiles and in good mood.
What is your hope for the future for your loved one:
I am a realistic person and I don’t want to despair but I am not expecting much from the modern medicine. I hope all the good for my angel and all your beloved ones.