I sometimes meet people who I have not seen for a while … they often say to me something along those lines … Antoni is doing so well, all is OK now, he is like any other child.
It is not a question about Antoni’s wellbeing. It is a statement. They are glad that the distress is over and we can all live happily now.
I often loose interests in those people and yet another number gets deleted from my phone book, but I sometimes wonder if I should be more accepting of people’s lack of knowledge and make an effort to educate …
Kabuki Syndrome is a genetic disorder. It is a change in Antoni’s genome. He was born with it and he will die with it. It will never go away. It will never be cured.
There are a number of consequences of having a genetic syndrome. There are learning difficulties, medical problems and life threatening conditions, social and behavioural challenges. You can read about some of them under the tab titled Antoni’s Diagnoses or on this blog.
Those problems do not go away. It sometimes takes a lot of time to identify the issues, diagnose them properly and come up with best management plan. It is a management plan, not a cure.
We have learnt to manage Antoni’s hypoglycemia. His body will never be able to maintain his blood sugar at safe levels, but we learnt what and how often he needs to eat, so we lower his risk of getting brain injury and death.
We are aware of his compromised immune system and we now know that we need to be extra vigilant so he is not exposed to bacteria and viruses as those can be potentially life threatening to him. You may not realise what measures we put in place because we have become so experienced at doing it, but we do still spend a lot of time planning for it. We will also have to teach Antoni how to deal with those challenges.
The list goes on.
You are not with us when we have to put needles in him on Sunday morning so he can get his biweekly supply of immunoglobulin replacement therapy, when we attend dozens of appointments every month and spend sleepless nights monitoring his sugar.
There is more to come. Some conditions will only surface during puberty.
We also need to teach Antoni how to deal with people’s lack of knowledge and their reaction to someone who is different. Those are not easy topics.
At the same time, we still want things for Antoni like any other parent wants for their children and for their family.
Please do not try not to “standardise” my life to fit your norm. We live with a genetic syndrome. We became friends with it and we want it to be a full member of our family, so next time you talk to me please do not pretend it does not exist.