This is the story of an 11-year-old girl named Caroline. She is more the spicy version rather than the sweet one you hear about in the song, but she’s our favorite anyway! She, along with myself (Jenny) and my husband (Bradley) live in Central Florida. This works well for us as Caroline has a passionate love for all things ocean and water related.
After a 5-year roller coaster ride, Caroline was diagnosed with Ogden Syndrome in September of 2016 through whole exome gene sequencing. She was born in 2011 after a normal, healthy pregnancy and delivery. I can’t explain it, but from the beginning I felt that something wasn’t quite right. Over the first several months of her life she was very slow to grow, had a small head circumference, slept much more than other babies, and was not progressing with her motor skills. As with most first-time moms, my concerns were met with the wait and see speech from the pediatrician as well as early intervention evaluators. Feeling frustrated and seeing that she was still not even sitting up by herself at age 1, I reached out to a neurologist and developmental pediatrician. After an abnormal MRI and going through various cognitive and social evaluations, we were given both Cerebral Palsy and Autism diagnoses. Feeling both empowered and panicked that I needed to get Caroline “caught up”, we hit the ground running with ABA therapy, OT, PT, Speech, Music, and Therapeutic Horseback riding. ABA, OT, and PT were very helpful with her progress, but she was still very much delayed cognitively and with speech.
In September 2015, Caroline had her first seizure. In many ways this was the key to us getting to our correct diagnosis. Her seizures started and progressed quickly to the point where she was experiencing hundreds per day. During one of our various hospital visits for testing and overnight EEGs, it was discovered that Caroline had a heart murmur. These additional medical complications ultimately led to us meeting with a genetic counselor who thought it would be beneficial to undergo whole exome gene testing. While we had already been tested for other known genetic syndromes and hadn’t found anything, this test had the ability to find what could simply be mis-alphabetized genes. In August 2016, Caroline underwent a brain surgery to attempt to stop the spread and reduce the frequency of her seizures. Three weeks later she was diagnosed with Ogden Syndrome. The geneticist explained that this was a spontaneous mutation (not inherited) and that little to nothing was known about it. She went on to say that we would probably know more about it than she would and that we should look to social media to connect with other families who may have the diagnosis.
It was more exhaustion than shock when I heard her words. I didn’t want to deal with explaining yet another diagnosis to friends and family, especially when there wasn’t much I could even tell them about it. About a year after receiving the diagnosis, I found our group on Facebook. To say it was a relief was an understatement. I have never felt so instantly connected to complete strangers from around the globe. It has been invaluable, and the greatest help and support of our journey. While Caroline continues to be completely dependent on Bradley and myself for her daily needs and activities, she excels in personality and problem solving (i.e., pretending to be asleep to get out of therapy). She is non-verbal but manages to get her point across and show love and affection to others. It takes a lot of extra effort, planning, and physical support for activities, but she has participated in recreational soccer, adaptive ice skating, adaptive surfing, and dance classes. Caroline is our greatest blessing and inspiration. She has taught us so much and given us a fresh perspective on life.
-Jenny and Bradley