My daughter, Joplyn, was born 8-weeks premature weighing only 2lbs 15oz. She was in the NICU for 92 days and was diagnosed with an ultra-rare disease at 2 months old.
Joplyn was diagnosed with Yuan-Harel-Lupski (YUHAL) syndrome is a rare neurological condition that combines the features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth Disease. There are fewer than 30 cases of YUHAL Syndrome ever documented in medical literature.
Babies and children with YUHAL syndrome have delayed development, including delayed speech, language and motor skills. Some people with YUHAL syndrome have subtle differences in facial features, including outside corners of the eyes that point downward, a triangular face, and eyes that do not look in the same direction.
We were told to expect damage to occur to Joplyn’s peripheral nerves, leading to loss of sensation and wasting away of the muscles in her legs before the age of 5, as well as a degree of intellectual disability and global developmental delay. So far, she has also been diagnosed with spastic cerebral palsy, a brain malformation and silent aspiration causing her to be tube fed.
Joplyn is our first child, so her medical complexities were very new and scary to us, especially as first-time parents. It felt like a heavy burden receiving the diagnosis of such a rare disease and we felt very isolated because, as far as we know, Joplyn is the only one on earth with her exact chromosome duplication.