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The following message was posted by Elizabeth's mother, Tara.
Our daughter Elizabeth was born prematurely in 2013 after a difficult pregnancy, and has been diagnosed with multiple genetic diseases. She is no stranger to doctors and hospitals, and we are very grateful for UPMC Children’s Hospital of Pittsburgh.
Her primary diagnosis is a rare genetic disease called ZTTK Syndrome, which is a severe multisystem disease causing developmental delay and intellectual disability. Elizabeth’s other diagnoses include Congenital Myasthenic Syndrome, shortened telomere disease, and secondary diagnoses and medical issues related to her multiple genetic syndromes.
Elizabeth sees many departments who provide care for her. But most of all, her team of doctors make sure that she is as well, healthy, and happy as she can be. Stacey Cook, MD, PhD in the Complex Care Center helps to keep Elizabeth’s team of multiple doctors a well-oiled and communicating machine. A medical geneticist has also been an integral part of Elizabeth’s care.
The ZTTK Syndrome is both new and rare in the world of genetic diseases. In fact, Elizabeth was one of the first six people in the world diagnosed with a SON gene mutation, which later came to be known as ZTTK Syndrome. She is the only known case in Pittsburgh, and so the expertise of the Division of Medical Genetics has been crucial to helping Elizabeth’s many physicians to understand her many complexities.
The ICare (Intestinal Care and Rehabilitation Center) has played a vital role in keeping Elizabeth thriving with her many rare and complicated GI and growth issues. She pretty much sees every department, and we could go on and on praising her many other wonderful physicians.
We were overjoyed by her reaching her milestone fifth birthday. We always like to say that, “Birthdays mean more when you have to fight for them.” Elizabeth’s team at UPMC Children’s Hospital makes this and so much more possible, and we are grateful for the quality of care that she has received.
Elizabeth is such a joy to our lives and to everyone she meets. Her laugh is contagious, and her smile is infectious. She is strong, brave, and beautiful, and she is such a gift to our family and to this world. We love to watch her continue to learn, grow, and thrive. She moves along her own path at her own speed, and we could not be prouder of her and all that she has accomplished.
We know that if it were not for the careful attention and dedicated care from her multiple medical teams, our story would be very different. So, we continue to share Elizabeth’s story. Her story is one of hope. Her story is one of love. Her story is one of survival. Her story is one of perseverance. Her story is one that we share with the world whenever possible, and the joy she brings to our lives every day, is possible because of UPMC Children’s.
We are forever grateful for our little billion-dollar miracle baby, for the hospital we all too often have to call home, and for the staff that have become like a second family to all of us.
Learn more about the Complex Care Center.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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