SickKids: Dad and all four children share rare genetic disorder

A family of six head to sick kids hospital in Bradford where the parents and their four children are bringing their children's breathing kits back in for a tune-up. The four children of this family have a rare mutation of the Phox2b gene that can cause a variety of life-threatening conditions, from cancer to heart disease. The father has this same problem and the chances of getting it was 50/50. The chances for all of them getting it was 16/1.
“I think there are only 15 people in the world with it,” says Dave Phillips. “Five of them are right here.”
This mutation leads to severe breathing troubles and this makes physical activities difficult, especially for the young children who just want to run and play all the time. The Phillips family say that they will have to take a lot of common sense into mind; like not going for swims, especially underwater because their body might not recognize when to come back up.

The chances of this happening are unbelievably low but it happened to this family. They are a positive family where they found good sides and bad sides to this mutation. This mutation is especially difficult for the children who want to go swimming or play at home or school or who even want to join a sports team. They will not have that opportunity, but the way that their thinking of it is that the absence of physical activity gives them time to do more productive things like finish homework or read a book. I think that these children will be very intelligent with the help of their parents and this mutation that they have.

Link:

http://www.thestar.com/specialsections/sickkids/article/1175104--sickkids-dad-and-all-four-children-share-rare-genetic-disorder#article