My name is Junko Okuda. I live in Orange County in California, US with my family. My 14 years old daughter Karen has been diagnosed with r(20). I’d like to share our story…
Karen started showing complex partial seizures and atypical absence seizures since around May of 2012 when she was 8 years old. Her seizures used to last 20 to 40 minutes long. Very quiet since she becomes unresponsive during a a seizure. But it took while for her to get a right diagnosis as r(20).
We have tried more than 10 different kinds of anti seizure medications with 3 neurologists/epileptologists, but couldn’t control her seizures. In September 2017, my husband and I decided to take her to Japan to have her stay at the National Center of Neurology and Psychiatry for 2 weeks. The purpose of the hospitalization was getting my daughter have any possible medical examinations done to find out the cause of her seizures.
They couldn’t find out anything major until they did DNA testing. They found out that about 45% of her cells were with ring 20 chromosome. It was helpful to find out the right diagnosis but the treatment plan didn’t change much since the symptoms of r(20 and treatments for each patient are vary. We decided to implant her a VNS with a hope to have better control of her seizures, but unfortunately we didn’t see much or any improvement again.
Her behavior and cognitive skills seemed to have stopped improving since she started having seizures, but not completely stopped maybe, but significantly slowed down.
Karen have tried most of the anti seizure medications over the past 6 years, but nothing worked to make her seizure free. Around August of 2018, her seizures have changed, getting very short like a moment, but more frequent like 30 times a day, and with more intensity like falling without her realizing it. She couldn’t go to school and needed someone to watch her 24/7. She could have seizures anytime, anywhere even when she is asleep, walking, in the bath. We couldn’t let her go outside without me holding her arm to prevent her falling. This condition lasted for about 3 months.
We have three other children, one is older than Karen and two younger ones as well. I’m a homemaker and basically stays home but it was extremely challenging situation for all of us.
Then when we had her Dr’s appointment in November 2018, Karen had 3 seizures in 30 minutes right in front of her neurologist. Her Doctor took it very seriously and immediately arranged a long term EEG test for her. Karen was admitted at the Children’s Hospital of Orange County (CHOC) and started getting her EEG monitoring for almost 10 days straight while a team of doctors made a big adjustment on her medications. Karen already had tried the combination of Depakote and Felbamate when she was about 10 or 11 years old and those medications didn’t work for her back then, however this time the same combination worked. She’s been on Depakote, Felbamate and Onfi now and her seizures are well controlled for past 3-4 weeks and we can’t be happier.
We understand there is always honeymoon period with the medications especially this r(20), but we really hope her current condition will last for a long time!
Reason for hope
She used to be a very quiet girl because her seizures block her brain’s functions, but she is becoming more talkative these past couple weeks and started showing lots of her teenage attitude all of sudden!
We truly hope that she can live her life without her seizures stopping her doing or challenging whatever she wants to do in the future. And Karen is determined to overcome her seizures and encourage many people through her own ‘never give up’ experience.
When we stayed at the hospital in Japan, we were informed that there was another girl who also had r(20) was a patient at the same hospital. Because of her record, Karen’s doctor thought that Karen might have r(20) as well and they were right.
The patients and their families often might have a hard time to connect with other families, or do some research for possible effective treatments. And oftentimes, r(20) might be easily misdiagnosed as other types of epilepsy, so the burden for families can be really huge.
We think new research into r(20) is very important and really hope the results will contribute to other chromosome related diseases as well.