With the help of my Mother-In-Law, we hoped on a plane and headed to Columbus Ohio to see the leading Battens Specialists. We struggle daily with making the right decisions regarding Claire’s medication so that we can come to some seizure management, and whether or now we are not we are doing everything we can to keep her strong and engaged with various therapies. Our doctors here are not familiar with Battens, and because its so rare, there are very few doctors we are.
Nationwide was site of the clinical trials for Brineura, the enzyme replacement therapy that both children receive. The doctors and staff there have seen the most cases of children with CLN2, and that’s why we felt so it was so important that they see both Claire and Josef.
It was a lot of information, some good, and some hard to hear. They let us know that Josef was above on the charts on all things, except for speech, which isn’t to abnormal for a boys his age. They recommended that we put him in speech therapy and keep in engaged in preschool and lots of socialization. With Claire they let us know some small medication changes that might help, and they let us know that we had her in all the right therapies. Unfortunately, we were told that Claire’s comprehension is currently at a two-year-old level, and its too soon to know if that would ever change, even with gene therapy. That was extremely hard to hear, we know this is only an educated guess, but we weren’t aware that this wasn’t something that the enzyme treatment or even gene therapy would help correct.
Of course we stay hopeful that Claire will continue to grow and learn like every other kid, but we also have to face the hard realities of this disease and how it has forever changed what we thought our life would be like.
