What an incredible feeling I am experiencing. An hour ago I spoke with the mom of another boy who is similar to Corey’s MRI. Before I felt like we didn’t quite fit in anywhere and now Corey is not “alone” in his diagnosis. I laugh as I think of her telling me about her son with so many things as if she was talking about Corey. In this short amount of time we have exchanged our family pictures, stories, laughter and sadness, and hope to meet sometime soon.
Where do I begin telling you our story. I’ll shorten it to this story and maybe someday the others can be shared.
A friend asked me if one of her friends could contact me for information on special needs. Her daughter was new to regressive autism and wanted to learn as much as she could. However, in our conversation she helped memore than I could ever imagine.
She had found out about www.clinicaltrials.gov through a family member who had cerebral palsy and went through a trial. This person was loosing their ability to walk and had a new surgery which saved his walking to this day. Everything was free to him and he was treated very well. She went onto the site and found a study on regressive autism and her daughter just being diagnosed was place in the study in another state. Her whole family was flown to the clinic and given royal treatment. Her daughter and her now fly alone several times a year to participate – all at the clinical trials expense. She has learned so much about her daughter’s condition and her daughter is receiving the most current care in the field.
After hearing her story, I got off the phone and typed in clinicaltrials.gov. I did a specific search for “children, seizures” and found 65 trials being done worldwide. None of them were of interest to me so I typed other words and found the clinical trial that brings me to writing this story.
We started in May, 2006 following the directions of the clinical trial by filling out the consent forms and requesting MRIs to be sent to Dr. Dobyns at University of Chicago. It took months and I wondered why nothing was happening. We found out they were not receiving the actual MRI – only paperwork. Here’s a good tip of the day: When requesting records make sure you have the right department. The actual MRI film comes from the Film Library not the medical records release office. We still needed the same form signed but it needed to be directed to the correct location. Dr. Dobyns assistant was so kind and said she would direct the MRI to Dr. Dobyns upon receipt. He usually didn’t look at them for months but since I’ve waited so long she would help get it started. She received the MRI film on Thursday, August 31 and in 3 days on Labor Day Sunday I received an email from Dr. Dobyns personally with Corey’s results. He has a mild variant of Lissencephaly found in only a few boys in 1000+ MRIs viewed by Dr. Dobyns over the years. In his letter he included a note from one of the mom’s that was written years ago. I wrote back to him asking him to share my information with her if possible. The next day I received her email address from Dr. Dobyns and wrote to her immediately. The very next morning – today – I received one of the best calls in my life. You know the ones where all the pressure and stress you’ve been holding onto just releases and its going to be ok – at least for now.
Once the ball started rolling it really went fast!! We have so much to learn about this new diagnosis and yet part of me wants to wait until the next step. Corey will need two gene tests to determine if his variant qualifies for this particular research study. Then I think I’ll be ready to learn more about the right variant. Maybe there will be another study on Clinicaltrials.gov that would be more helpful to Corey. Or maybe I’ve learned what I needed – the connection with the other mom. As she put it “It is definitely nice to be part of a crowd (even though it’s a small one). :)”.
To learn more about a trial for you or someone you care about, see http://www.clinicaltrials.gov
See other posts for Dr. Dobyns contact info and other researchers.