It’s strange how something that that matters so little when looked at from an objective point of view can matter so much when it’s personal.
Take, for instance, the volcano currently destroying homes in Hawaii. There’s no denying that it’s a tragedy, and that we feel for those who are affected. But it’s still relatively easy for most of us to forget about tragedies like this happening half a world away as we get distracted by our own lives. But how would we feel if lava suddenly seeped up through a manhole and started flowing down the street towards our homes? Suddenly it would matter more to us, and it would certainly be harder to forget about.
The same thing can be said about the parents of children with White Sutton Syndrome (or any other developmental disability). Not one of us planned to one day have a child with special needs and the associated medical, developmental and social struggles. It was a struggle that other people had…until it became ours. The first doctor with a concerned look on their face was that lava seeping up through the cracks, ready to wreak havoc on our lives.
As families begin to deal with the new reality they’ve been given, they can often do what many people facing a difficult situation do: they look for someone to blame. Unfortunately, with something as random and unpredictable as a genetic mutation like the one that causes WHSUS, the list of potential culprits is short. Parents often wind up blaming the most obvious one: themselves.
It’s universally understood that we pass traits on to our children in our genes. My kids look so much like me sometimes that it’s a little unnerving. They got my eyes, my hair, my nose, and in the case of my youngest son…my mutation? This seems like a logical assumption on the surface. But is it accurate?
Actually, it’s not at all. This is where the definition of a de novo mutation becomes important. De novo (literally “of new” in Latin) mutations occur spontaneously in either the germ cells (sperm or egg) of the parents, or in the fertilized egg itself. These mutations do not come from either parent, so there is no one to blame here but random chance.
When asked about de novo mutations, Dr. Sutton reiterated their random nature. “We have about 22,000 genes in our body” he said. “Genes are instructions that tell our body how to make something. When an egg or a sperm cell is made, we have to make copies of all 22,000 genes to put into that cell, which we then pass along to our children. Our bodies have mechanisms to ‘spell check’ these copies, but on rare occasions a misspelling is missed during copying. In this situation, there is a new misspelling (also called a mutation or variant) in the child’s gene that was not present in the parents.”
And here’s the important part for WHSUS parents: as far as we are aware, de novo mutations are responsible for every case of White Sutton Syndrome that is documented in the medical literature. It is theoretically possible that the POGZ mutation responsible for WHSUS could be passed on from parent to child. The White Sutton Syndrome Foundation has talked to one individual in the UK who claims to have passed on her POGZ mutation to her child. But to our knowledge, although Dr. Sutton is aware of her situation, her case has not yet been documented in published medical literature. If this changes, you’ll be sure to hear about it here.
Anger is part of the grieving process, and looking for someone to blame is a natural reaction to that anger. But just like every other stage of grief, this can and should pass with time. Once that happens, there are real things we can do to help our loved ones with WHSUS, and proven strategies that can vastly improve their quality of life.
So here it is parents: Plainly put, White Sutton Syndrome is random. There is no one to blame, and nothing you could have done to prevent it. What you can do is take action in your child’s life, starting today. If you need help with that, reach out to us; that’s why we’re here!