Kamie is 22 years old, 4 foot 10 and weighs 75 lbs. She is non-verbal with limited with low functioning ambulatory skills. She needs 24 hour care. We were given a developmental age of 2 years. She was bornwhat seemed to be a healthy, but small baby girl at 5 lbs 10 oz.
Kamie’s seizures started at age 2 and a half months, just after her first set of shots (coincidence?) this is what we always went back to. Her seizures immediately started getting worse. After several tests and more tests and even more tests, and thousands of grand-mal, tonic-clonic seizures we still had no answers or a diagnosis. Over the course of the next ten years her Doctors just kept adding and changing her meds. She was on at times 5 different seizure meds. Still no control! She had adverse side affects from most of them including toxicity, G.I. problems and clearly not coherent. Given no chance to thrive and develop. We even tried the Ketogenic diet. It took a toll on her entire system yet helped with seizure control. Had to stop it, she was not healthy. She then was implanted with a Vegas Nerve Stimulator. We saw an improvement only with her quality of life. Seizures still came. Once again more tests, no diagnosis. All we had to share was “Intractable Epilepsy w/significant developmental delays.
After countless EEGs, MRI’s and diagnostic testing not to mention ICU stays and endless sleepless nights, still no diagnosis. With every seizure came the fear of the unknown. All we could do was give more meds and wait for what we hoped would be a cure!
Kamie went through school going only a few hours a day, with her Grandpa by her side every day for 15 years! She had special IEPs and therapists, mostly her Para – talk about overcoming adversity. Kamie and Grandpa walked across the stage at Graduation 2013!
In October 2013 we were referred to University Hospital in Denver for Genetics clinic. We consented to doing a new “Genome” test. After 6 mo we had a diagnosis! Kamie has Cornelia de Lange syndrome, a rare genetic disorder. Talk about hindsight, it’s all there in black and white. Still, how will we deal with her seizures, her threshold for pain and all her delays? Having a diagnosis after all this time was a weight off our minds, we now knew.
Kamie’s older brother Bryan Masse and his dearest, best friend Dana Soux, whom both work in the medical marijuana industry, put us in touch with what would soon be a new course, a natural course, of cannabis to help manage her seizures and her pain. It has been 6 months and we are seeing such a change in her. Kamie is calmer, more alert and loving! We have not taken her seizure meds away yet. She is on Keppra and Lamictal. Right now just seeing her not in pain, but calm and not agitated like before is overwhelming. Her last seizure was even different. It did not go full blown. “One day at a time” we say. It has been a long and difficult road we have traveled. But now we have a new “Hope” with her on cannabis.
As special needs parents, a devoted Loving Brother, Grandparents who are her guardian angels, countless family, friends and all the special people who have come into her life through out the years, we say Thank You!
Kamie speaks to us through her amazing smile and her big blue eyes for which we know are the window to her. Holding onto Hope that someday, still, she might say a word!