We have been told that having a diagnosis for Sonya this early is so amazing. Being that I have not had to sit awake at night wondering if her Seizures will disappear by their own volition, I would have to agree. No, I have not had to stress and anguish over why her development is not on target. I have been afforded the opportunity of diving head first into therapies to keep her as much on track as possible. However, the problem with having a diagnosis so early is you find yourself, and others making statements such as, "She is doing great for having CDKL5", or "Most kids with CDKL5 don't talk, eat, or feed themselves", or "These are the things you can expect with a kid who has a CDKL5 diagnosis". I am sure this holds true for any parents who have a child with a specific diagnosis. The problem with having a specific diagnosis so early is that you have to literally FIGHT to NOT let the diagnosis define your child. Shakespeare had it right when he penned Juliet's words. "What's in a name? That which we call a rose by any other name would smell as sweet."
There seems to be a classification system for all children, typical and those who fit into a specific diagnostic category. I feel like it's rare in any instance that we actually see a child for who he or she truly is. We as a society tend to lump children into categories based on physical appearance or their shared characteristics. The geneticist we saw even made the statement that a syndrome is "found" when many children are presenting with the same symptoms/characteristics.
It is great to use a diagnosis as a target for addressing skills or starting point for parents to gain comradery, but it is unfortunate when we use a diagnosis to define our children. Sometimes knowing the "typical outcome" of other children who share the same diagnosis can be catastrophic. If a parent learns of this diagnosis and they already feel defeated, this can add a level of complacency, of not bothering to work on anything because "what's the point?" It can lead to the absolute opposite of what we want to achieve as parents.
Each child/person with a disability has a soul and a purpose just like those of us without a physical, mental, or emotional disability. Everyone is required to complete the puzzle. We must focus on the child as a contributing member of society, and not let the disability dictate our actions towards him/her. It is our job as caregivers, family members, and friends to help the person reach their highest potential and fulfil his/her mission regardless of the obstacles presented by the disability.
It should not matter whether our children have a genetic disorder! It should not matter if they have Cerebral Palsy, Down Syndrome, Hypertonia, Epilepsy, or Spina Bifida! It should not matter if they have a physical, mental, or emotional difference. We should always remember to put our children first, and if at all, their diagnosis second.