Our journey with “rare and undiagnosed” diseases began when my second child, a boy, was about six months old. We noticed he wasn’t hitting his milestones like his older brother. Eventually, he was diagnosed with CP and microcephaly and global developmental delays. All the genetics tests were negative for any kind of a syndrome known in the mid 90′s. We were told it was a “random thing, a fluke.”
Then, we had our third child, a daughter. We noticed right away that she was having the same issues as our son, and we recognized the signs sooner, which got her into early invention much sooner. Again, genetics tests were “negative.” Then, my husband died suddenly of some unknown cause, although he had been having various neurological signs and symptoms the last year of his life.
The oldest, who had previously been undiagnosed, went into a downward spiral and has now also been diagnosed with his own brain-based disorders. There MUST be a connection, but medical science has not yet caught up to our family.
We are in the undiagnosed category, but likely-to-have-a-syndrome camp. Together we survive, but gee, it would be great if we knew the prognosis to help with a plan!