#MiracleMonday – Meet Brianna!

Brianna Feeney, born on December 26, 2008, was a happy and healthy newborn. She had adequate Apgar scores and a normal weight that doctors did not suspect any problems.  But in the months that followed her homecoming, it was evident that something was wrong.

Brianna developed jaundice, her eyes seemed glazed overlooking outward without focusing, she was extremely frail without any muscle strength, and she could not hold her head up.

“I began my search to find answers, taking her doctor after doctor and specialist after specialist,” says Patti, Brianna’s mother.  “They all confirmed that there was something wrong, but did not know exactly what it was.”

When Brianna was eight months old, DNA testing finally revealed a deviation of the 12th chromosome.  Her geneticist happened to be doing a study on a very rare genetic disorder called Pallister Killian Syndrome or PKS, of which there had only been a handful of studies. PKS is so rare that there are only about 250 known cases worldwide.  Further tests confirmed the diagnosis of Pallister Killian Syndrome.

“I was told that it was a fluke that Brianna was born with this disorder as it is not passed down in families,” says Patti. “The doctor told me that Brianna was profoundly disabled and globally delayed.”

Brianna also had cortical visual impairment so she was blind and would only be able to see light. She would never walk, talk, feed or dress herself, would have extensive health issues, and that she would need nursing care for the rest of her life. The diagnosis was devastating and the feelings of helplessness were overwhelming.

“It seems like a lifetime ago that I sat in the exam room listening to her diagnosis, paralyzed with fear about my little baby’s future,” says Patti.

Years followed of early intervention, trips to specialists, researching and trying the newest therapies, and tirelessly advocating for her to have the services and equipment that she needs, which they found at Children’s Specialized Hospital.

Brianna receives pediatric primary care at Children’s Specialized Hospital in Mountainside, NJ. “Brianna’s mom works very hard to advocate for Brianna,” says Dr. Bentley, Brianna’s Physiatrist. “Brianna now has the equipment to maximize her quality of life and function. Brianna and her mom work hard at therapy and at home to help improve Brianna’s function as well. Recently Brianna began barring weight on her legs, which is wonderful progress.”

Brianna is now five-years-old and has grown into a beautiful little girl. Brianna is blind, non-verbal, and she cannot crawl or walk.  When she is happy, she bursts into a wide smile and makes loud shrieks of pure joy.  And when she is uncomfortable or in pain, she fusses and cries, but always for a reason.  At 52 pounds, she is a healthy child, but her muscles are still very low in tone and have not developed normally so her body structure is still much like an infant.

“Brianna loves to eat, so I make sure to puree all of her favorites and feed them to her,” says Patti.  “She loves music and sways back and forth with the beat in her wheelchair.”

Brianna’s older siblings Joseph and Bridget adore her.  They are growing up with a deep appreciation for the unique qualities of everyone they meet without judgment.  They have learned lessons of compassion that take many of us a lifetime to grasp.  They are in constant awe of their baby sister and still get excited when she laughs or makes a silly expression.

“A living example of pure genuine love, Brianna has blessed our family in more ways than we even know,” says Patti. “I am eternally grateful for her because she has taught us the meaning of true and unconditional love.  I cherish each small miracle along this journey of ours because Brianna is a miracle.”