Una the Unicorn

Program: RHOBTB2

Cammile’s Story:

Camille is a sweet and happy little girl who loves to sing, dance, and swim! She has never met a book she doesn’t like!

Her family noticed that, at the age of 18 months, Camille wasn’t hitting her milestones. She began early Intervention and was making slow but steady progress. She displayed low muscle tone and had trouble with balance and coordination.

Fast forward to March of 2023, when Camille had a medical emergency that ultimately caused her to be intubated and sedated for five days at Boston Children’s Hospital. While she fully recovered from what is now known to be a hemiplegic migraine, there were no answers as to why the event happened. Boston Children’s ordered Whole Exome Sequencing, and that is when her diagnosis of a genetic mutation in the RHOBTB2 gene was made.

Her family decided from that very first day that they would not stop advocating and searching for anything that could help Camille. Eventually, they found n-Lorem, which has provided them with a sense of hope that, maybe one day, Camille will reach her full potential with the help of an ASO treatment.

While Camille still struggles with coordination, has limited expressive language, and needs help with all aspects of her day, she wakes up every day with a smile and continues to put smiles on the faces of those lucky enough to know her.