Priya was diagnosed with Beckwith-Wiedemann Syndrome (BWS) at 20 weeks in utero. Her mother’s OB and sonographer noticed atypicalities including an omphalocele (some of Priya’s abdominal organs were protruding into the base of her umbilical cord through an opening in her abdominal wall). Other signs – including an unusually long umbilical cord and increased amniotic fluid - led Priya’s mom’s doctors to suspect the possibility of BWS.
After an amniocentesis at 16 weeks and some bloodwork, Priya’s mom, Tanya, got the call that her daughter had BWS. It was a devastating blow and hard to come to terms with at first. There were many tears shed and lots of worrying about what the future held. Fortunately, some great online support groups gave the family a place to vent their fears and provided hope and guidance.
Priya was born mildly premature with a small omphalocele that was repaired within 24 hours of delivery. She was also born with hypoglycemia, macroglossia (enlarged tongue) and a very wide cleft of both her hard and soft palate. The combination led to extremely poor feeding in the NICU, so doctors felt it best to have a g-tube surgically placed so that she could be safely discharged. Priya also had multiple tiny ASDs and VSDs that closed on their own, and two hemivertebrae that will have to be watched for the development of scoliosis. She has mild left side hemihypertrophy (where one side of her body is larger than the other).
Priya has certain features of BWS such as ear pits and red, vascular birthmarks called stork bites on her forehead and eyelids (they have faded significantly over time, and thanks to her darker skin, are not very noticeable until she gets hot or upset).
The first six months to a year of Priya's life were a blur with many doctors’ appointments and specialists. Due to her large tongue, she was developing an anterior cross bite and open bite by 11 months old, and at 12 1/2 months old, she had a tongue reduction surgery. The effect was amazing! She could keep her mouth closed after post-op swelling went down, food wasn't getting pushed up through her cleft palate as much when eating, and best of all, her obstructive apnea became milder. At 20 months old, Priya had her palate closed. She has an incredible vocabulary, but she is currently in speech therapy to help her speech.
Priya is 24 months old and doing amazingly. She sees an oncologist for labs and abdominal ultrasounds every three months to screen for malignant tumors due to her increased risk of cancer due to BWS and hemihypertrophy. She currently follows up with an ENT, orthopedist, geneticist, surgeon and her regular pediatrician.
Priya’s mother hopes Priya will live a healthy, happy life, surrounded by people who love her and appreciate who she is. She hopes every ultrasound and lab result comes back "within normal limits," so she can live a long and happy life however she chooses to live it, not defined by the obstacles she has faced, but shaped by them into a person of strength and courage. Priya has had five surgeries and endured a lot. Her resiliency has amazed her family each time.
Information provided by Tanya Christo
April 2015
