Tuesday, December 29, 2015

Being part of the other X-Men- Sharing a diagnosis with my Child.

The X-men are pretty cool. In fact the fictional group of mutants have been a staple in many people's lives thanks to the comic books, cartoons and movies. From Professor X to the awesome Wolverine. All mutants. While being part of that X-Men group would be pretty awesome, saving the world and all, there is another group of X-Men where the perks aren't glamorous or exciting. It is the many who have a rare disorder called Fragile X.

Last year we found out that our little X-Man, had Fragile X. While it was the reasoning behind why he has autism and a host of other disabilities, it also opened up the door to the possibility of something underlying in our genetic family tree. Most people have no clue what Fragile X was. I had heard of it before I had children, but never really understood what exactly it was. For my son, it has been a year of testing, procedures and mix and matching medications that will help him in his daily life. Back and forth to the clinic to log in data. As we talked with the many doctors that are now following my son, it became abundantly clear that this disorder was one that would affect not only him, but the rest of us as well. This disorder still had an impact on all of our lives, simply because we loved someone with it, but since it was a genetic disorder, we had to start mapping out the rest of us, genetically.

 The reason why I made the connection with genetic disorders and Marvel, is that both deal with mutations. Yes, one being fictional but the other not. When getting tested for Fragile X, geneticists are looking at mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses. Mutations that make people who have Fragile X, that extra bit special.

Recently, my eldest son and I had our own genetic testing done to see where we would fall into the Fragile X spectrum. Luckily, for my eldest, he came back with a negative result, where I came back with a positive result, thus making me a carrier of Fragile X. I have the pre-mutation form of this disorder. While I knew that there was a very high possibility that I would be a carrier, it was what the implications of that actually meant for me. For me who fought that "Mother's Guilt" for so long when both my children were diagnosed with Autism, this was a blow that I was not prepared for. To know that I have passed something down to my child. Now, I know that I can't help genetics and that is its not my fault, that this is way things just happened, but when I look back at how my life shaped up and reading the medical material they give you when you are newly diagnosed, it feels like all the pieces have been put into place. My own learning disability, my battle with depression and anxiety and so many other things.  Its not surprising with my pre-mutation rate was so high, that I would have a male child with a full mutation and  that the Fragile X Clinic would be concerned about my risk factor for many of the Fragile X implications that happen later in life. So now I have a case number assigned to my name, that is connected to my son's. While most people would look at something like this, and be "Worry about it, when things happen." I am not that type of person. I worry about if I am going to be able to help my husband take care of our special needs children, when I am special needs person myself. That lifestyle that might have the potential seeing him struggle. While that is stuff that is beyond my control, it is still something that worry about, as we are all in this together.

I have had time to let everything sink in. It seems like our MO, that not so great news always comes right before a major holiday. I can honestly I say that I am feeling less than super human like an X-Men and more like a person having a hard time coping with something. This blog has always been about sharing how I have felt about the lifestyle I live, mostly in the hopes that my stories help others in dealing with their own lives. 

While I am still trying to learn more about the genetic aspect of this disorder, there are still things that I feel I don't know about it. Each time my son and I go to clinic, we learn more and more. The power of knowledge can be a good thing. In time, I will come to terms with the very real prospect of what it means to have Fragile X in my life, but for now, I can embrace my little X-Man and the many ways he continues to show the world just how special and super he is.

Thursday, December 3, 2015

A Lament for San Bernardino.

I am trying to wrap my brain around what happen yesterday in San Bernardino. As a blogger and a voice, I feel that I need to write something.I know that not everyone is going to be on the same page as me, its the way of the world, but I feel that I need to put some thoughts down concerning the very tragic and unnecessary events of yesterday.

Every time there is a mass shooting in this country, my heart just hurts. As we scream for gun legislation, stricter screenings, better mental health programs, banning refugees because of our own fears, when in fact we need to look at ourselves, I think back to days like yesterday and Sandy Hook and ask myself, what did those people do to deserve this heartache. Nothing. They did nothing. They started their day off like any other day, thinking it was going to be the same old shit as yesterday.

The events of yesterday, especially, hurt my heart. As it was a centre that served those who have developmental delays. A place similar to the one we go to. I think back to all those times I sat in a waiting room in a place like that, waiting for testing to be done or to see a doctor or specialist, and I can only imagine what it would be like for our children who are developmentally delay what a day like yesterday would have been like for them. And that is what blows my mind and makes my heart hurt a little more. They don't understand the hatred or the violence, this world is full of. For most of them, they are content with the simple things in life. Routines, familiar faces and things. So when someone targets people such as mentally ill or developmentally delayed, you have to ask yourself why? Death because of hatred is very sad thing. NO one deserves to die because of the hatred of another person, period.

I am not trying to start an argument on gun legislation or the upheaval of the Mental health care. I am writing about those who just choose to live their lives, normally. People who all they want to do is live a nice, peaceful life, but when things like this happen, those lives either cease to exist or there is a recovery from the carnage that was. So what do we do about that? How do we honor those who's lives meant nothing to someone else?We stand up. We fight back. We tell Washington that, this is not ok. You want to change something, then fight for it.

Yesterday, hit me hard, just like Sandy Hook did. Children and people who have special needs. Two different worlds of innocence.  In a way it feels like one of my own tribe has fallen. The special needs community has always been at odds with itself, but I think the tragic events of yesterday, we have come together as a community to mourn our own. I hope that we can remember all of this the next time we are all bickering about things. Good people, who did good things to help our children and adults died yesterday and we must never forget that. 

My heart goes out to those who lost loved ones because of a mass shooting or any kind of violence driven by hatred. Death is the inevitable truth for all of us, but in the end we need to ask ourselves, how many more people will have an unnecessary death due to all of this madness before things change?