Parents Perspective

One Mom's Christmas Wish for Her Daughter With Rare Disorders

This is a guest post from Nicole Burns D'Angelo, whose daughter, Ella, has rare brain and intestinal disorders. She's been treated at the two top children's hospitals in the country—The Children's Hospital of Philadelphia and Boston Children's Hospital. I first learned of her story because some friends posted on her Facebook site, Team Ella. Nicole's Christmas wish is to spread Ella's story so that families with children also facing the same challenges can connect. 

One Mom&#039;s Christmas Wish for Her Daughter With Rare Disorders 34987
I gave birth to a beautiful baby girl in April 2012. Our joy soon became fear. Ella wasn't able to eat. We rushed her to The Children's Hospital of Philadelphia where many test were performed. Ella wasn't thriving and we needed answers. After countless test we finally received the news that Ella had an extremely rare brain disorder called Congenital Bilateral Perisylvian Syndrome or CBPS. A brain disorder so rare our likelihood of meeting someone else with the same disorder were very slim. CBPS consist of feeding difficulty, partial paralysis of the facial and throat muscles as well as hard to control epilepsy. There's no cure. It was all so hard to understand we just kept asking why. It didn't end there.Soon following Ella's brain diagnosis, her intestines stopped functioning properly. There we were back again having test after test. Ella was diagnosed with Enteric Neuropathy, a disorder that effects the nerves in her entire intestinal tract. Ella is surviving off of TPN (IV nutrition) which she receives through a central line in her chest. IV nutrition can only help her for so long. It can not be a long-term plan. IV nutrition can affect major organs one being the liver causing failure. We spend a lot of time at The Children's Hospital of Philadelphia, but we make the most of every moment. Ella is the happiest 2 -year-old despite her struggles. She faces everything with a smile.

The holidays are here, and we hoping for a Christmas miracle. The miracle of a cure, a promising treatment, or even a family we can talk to who are facing our same battle. Our Christmas wish is to spread her story. We want other parents to know they are not alone, never give up, and always have hope!

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