A grandmother of a child with Koolen-De Vries syndrome describe her family's experience with this very rare condition.
Koolen de Vries syndrome, also known as 17q21.31 deletion syndrome, Monosomy 17q21.31, Microdeletion 17q21.31 syndrome, Chromosome 17q21.31 microdeletion syndrome, 17q21.31 microdeletion syndrome, or KANSL1-Related Intellectual Disability Syndrome, is a genetic disorder that can have a diverse set of symptoms but often involves developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral problems. Heart, kidney and skeletal abnormalities may also be present.
Some of the features that most everyone with Koolen-De Vries would have include similar facial features very pale skin. A lot of times they have orange or red hair. They end up with developmental disabilities and communication disabilities. And a host of physical and health issues like heart defects and epilepsy. About 50% of the patients develop epilepsy by age five. Melanoma also seems to be very prevalent in these children. Urological, teeth, andfeet issues can also occur.
I can only speak to my grandson, Malcolm, who is 4-years-old. In the beginning, because his immune system was compromised, he was sick all the time. I would say to parents of children with KTBS that it's a big struggle for the first few years because they're just getting sick again and again and again. So it is a huge struggle.
My grandson's had 11 surgeries in his four years and of course that's very difficult for the family in terms of just never feeling like you are getting ahead.
Malcolm’s prognosis at birth by the Mayo Clinic, who diagnosed him, was really dire. They said he would not walk, he would not be able to see much, and he wouldn't be able to hear. All of which he can do. He is running, climbing, singing songs. He has a very delightful sunny personality so you know that's the shining light. He is a very happy child.