What is BWS?
BWS – Beckwith Wiedemann Syndrome
This is a rare genetic disorder and there is not a lot of information accessible. When Thomas was first diagnosed with this I had never heard of it before. I quickly began to do research but soon discovered that the information is lacking.
The website at Children’s Hospital of Philadelphia does a great job explaining BWS, but below is a quick overview.
- Beckwith Wiedemann Syndrome is an overgrowth disorder that usually presents at birth. The severity of the syndrome varies from child to child.
- Features that children can have are, it is very rare that a child would have all of these. Thomas’s are listed in red
- large body size
- enlarged organs – Thomas’s kidneys are slightly enlarged.
- macroglossia (enlarged tongue)
- omphalocele (intestines are outside the body)
- umbilical hernia
- “stork bites” or red marks on the forehead
- ear creases or pits
- overgrowth on one side or part of the body
- neonatal hypoglyemia
- 1 in a 11,000 births is affected
- Most cases of BWS happen sporadically, some can be inherited. In Thomas’s case it was sporadic.
- greater risk of developing childhood cancer, particularly liver and kidney tumor
- Wilms’ Tumor
- screening protocol blood draws to check the AFP (Alph Fetoprotein) level every 3 months until the age of 4, ultrasounds of the abdomen every 3 months until age 8
If you have any questions please let me know and I will do my best to answer them.