Vincent Bergenblad
Gene: DKC1

Vincent was born in week 26 and weighed only 515 grams. We stayed in the hospital for 17 weeks until we were able to go home just before Christmas. After a couple of months, he started to get blood in his feces and he seemed to struggle when emptying his bowels. We were in touch with our hospital for many weeks before we were sent to Sweden’s best hospital for a special diagnosis. They took a lot of blood and screened every part of his body and the genetic screening showed a mutation in the dkc1 gene. After months and months of different kinds of medication, we finally decided to remove the problem entirely and Vincent underwent surgery to receive his ileostomy. His quality of life improved dramatically after this and he became a lot more energetic and overall a much happier boy. He goes to school like a normal boy and overall it works well even though he has a severe b-cell deficiency which makes his immune system compromised. Every three weeks we go to our hospital where he gets checked out and his blood work done, he also receives a dose of igg to make his immune system better. Best of love from Vincent and his family in Sweden.