What is the average life expectancy for someone with Beckwith-Wiedemann syndrome?
The average life expectancy for people with Beckwith-Wiedemann syndrome is usually normal. The only life-threatening symptoms of Beckwith-Wiedemann syndrome occur in childhood and include low blood sugar (hypoglycemia) and tumors. Rarely, these may lead to early death; however, with proper medical management, most individuals with Beckwith-Wiedemann syndrome will have a normal lifespan.
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If my child has been diagnosed with Beckwith-Wiedemann syndrome, what are some of the evaluations that they should have?
Following diagnosis of Beckwith-Wiedemann syndrome, if the child has an abnormally large tongue (macroglossia) it is recommended that their airway be evaluated to make sure that it is not being negatively affected. A feeding specialist may be needed if the macroglossia seems to be affecting the child's ability to eat. Also, a child may have sleep apnea that will need to be treated by a sleep specialist. A pediatric endocrinologist may need to follow the child if the low blood sugar (hypoglycemia) lasts longer than the first few days of life. An ultrasound of the kidneys is recommended yearly from the age of 8 years until mid-adolescence and, if abnormal, referral to a doctor who is a kidney specialist (nephrologist). If a heart abnormality is suspected then a cardiac evaluation by a doctor specializing in the heart (cardiologist) may be recommended.
There is a very specific protocol for screening for tumors in infants and children with Beckwith-Wiedemann syndrome. This involves an abdominal ultrasound every three months until the child reaches the age of 8 years old as well as a blood test every 2-3 months for the first four years of life. This blood test measures a protein known as AFP. AFP levels are higher in the blood of people with one of the tumors associated with Beckwith-Wiedemann syndrome, a liver tumor known as hepatoblastoma.
Where can I find out about other people with Beckwith-Wiedemann syndrome?
The largest support network for Beckwith-Wiedemann Syndrome is located in the United Kingdom and is known as the Beckwith-Wiedemann Syndrome Support Group. There is a great deal of information about the condition as well as stories of families who have children with this disorder. Social media sites such as Facebook (www.facebook.com) can also be a great resource for finding other families of children with Beckwith-Wiedemann syndrome. There is at least one, large active support group on Facebook for Beckwith-Wiedemann syndrome which can be found here. Finally, the organization Making Contact can help connect families who have children with Beckwith-Wiedemann syndrome with other families.