Searching for Answers
Four months following the birth of my second son, I became mysteriously ill. There were an array of symptoms. I was in and out of many doctor appointments and top hospitals throughout the country. There were many abnormalities with the test results, but collectively, the doctors could not come up with an explanation or diagnosis. Many times these symptoms mimic other diseases.
Rheumatologists said it was probably neurological and neurologists said it seemed rheumatologic. I knew there was something severely wrong and no one would or could acknowledge the illness, because they could not give it a name.
Not only was I in physical pain, proven by biopsies later, but terrible emotional torment by the lack of support and acknowledgement. I had to pretend for the sake of others to be okay. There was never an explanation for the abnormal brain MRI, abnormal muscle and nerve biopsies, and what then became myoclonic seizures. I felt like I was poisoned. Once I started having seizures, doctors put me on an anti seizure drug which controls the big movements for now.
I knew I couldn’t just leave it up to others to find an answer. After ruling out many other diseases through process of elimination, I was tested for a fatal neurodegenerative disease called Batten disease.
"The test was a simple blood draw. I went to my local neurologist and asked for the test. He had never heard of Batten disease, but agreed to draw the blood. Two weeks later the test came back positive."
I was devastated and relieved at the same time. I was relieved that finally, after four spinal taps, many biopsies and invasive tests, dozens blood draws, there was finally an answer.
The devastation is that there is no cure, and virtually no research is being done on the adult onset type of Battens. Doctors and scientists believe there are many cases that have never been diagnosed because so little awareness about this and other neuro degenerative diseases.
Due to a dominant form of Batten disease, both of my sons have a 50% chance of inheriting this fatal, untreatable disease. The prognosis of this disease is very grave. I am scared for my children and myself, as well as others who have neurodegenerative diseases.
My mission is simple; bring awareness, funding, and research for this fatal disease.