Research | Community | Cure
My Story, where do I start? My daughter, Serenity, was born at 31 weeks via emergency c-section because she had stopped growing in utero at 19 weeks gestation and that was the beginning of my journey with her. She was born 3 lbs 6 oz and was in the hospital for almost a month before I could bring her home. She went through many tests from daily blood work to spinal taps and
Everyone has a story to tell, here's some of ours. Whether diagnosed early or diagnosed decades later, each KBG story is as unique as their fingerprints (yes, we do have fingerprints).
Diagnosed July 2018
echocardiograms that revealed her PDA and VSD. We had many of those in the beginning and they had talked about doing surgery to close her PDA but decided to just keep an eye on it. When she turns 5, they are going to do the next one because its closing slowly on its own. I noticed before her first birthday that she would twitch and when I had mentioned it to the doctor he had asked me to capture it on video for him and that was a hard task as they were so fast, almost milliseconds.
As time went on, they became longer and stronger. When he had finally agreed to do a microarray test and a EEG and have the results go to a Pediatric Neurologist, I was told she was fine and there was nothing wrong. I then asked what to do if it continued. Sadly, I was ignored. I went back to her doctor and requested a second opinion and I was told at that time that, "we don’t do second opinions." Then I went through the fight of her weight. They would always ask if I fed her. I would leave in tears every visit which made me really doubt doctors here. It was not until months passed, right around her first birthday that I had managed to capture a seizure on video and at our next visit I showed the doctor. Finally at that point they agreed that maybe I was right and they suggested that we should get another opinion. We were scheduled for a 2 hour EEG and prior to meeting the new Pediatric Neurologist, she had Serenity diagnosed with Epilepsy and started meds right away. At that time the seizures were "grand mal" and when we maxed out her dose on the Clobazam, we then added the Keppra. And when we reached the max dose on both together, she was still seizing. She admitted us to the hospital for further testing and that’s when our new life started. The seizures had changed to Myoclonic Cluster Seizures in clusters of 3 up to 10 in a hour (30 seizures an hour) So we started the Valproic Acid and our Neurologist kept us there until we seen the Geneticist who had more testing done.
When we got the call for the results, we were told that we
would need to be tested, too. Well here we find out that I
am the one that passed it to her as I have a variant in the
same gene but I have 3 other children before her and seen
none of this with them. After we got our seizures under
control we then started to notice that she was not talking.
We started In-home speech therapy sessions once a week
for a year and we are now forming 3 word sentences. The
ones that are closest to us understand what she says,
however, most outsiders wouldn’t have a clue but we are
always here to translate for her. To date now, her seizures
are controlled and we are 3 years old and a whole 20 lbs.