Question Posed on PTEN World....

I follow PTEN World on Facebook. It is a place where the person who runs it posts updates on anything that could be associated with PTEN mutation (updates on cancer organizations, autism, National Organization of Rare Diseases. If you follow me on this blog, and you would like to stay up to date on issues that we might face throughout our journey with this PTEN mutation, like them on facebook. It opens my eyes to other issues, not just PTEN related issues. But yesterday they posted a question that hit home. "What is one thing you wish your loved ones knew about life with a PTEN condition?"

This got me thinking. I have probably said this over and over in my blog, so if you are tired of hearing my ramblings - don't read. But if you want to understand a little of what goes on in my braind - continue to read. What do I wish others knew? That when it comes to your kid, the unknown is scary. If it was me who had this mutation, I could deal with it. I would fear that cancer would take me away before my kids were grown, but this is a fear I have any way. I could deal with any pain, or problems socially I would face. But it's my kid. I fear that she will get a growth that will affect her - either her ability to be physically active, affect her ability to socialize with others, or makes her feel like others are negatively looking at her. I am afraid that some days her challenges might be hard for her to face.

I am fearful that as more research is being done, they will find this mutation is linked to more things. Right now, it is shown to be with developmental delays (she has a few of these), large head (we all know she has this), speech delays (she struggles with this but continues to make improvements). They are finding its' link with AV malformations (problems in the arteries and veins) and these can pop up at any time. She will probably need her tonsils removed. And we have all read about the tumor growths (benign and cancerous that she is at risk for). She is at risk for intestinal polyps, and so with every diaper change, I have to make sure I find no blood. This is our life from here on out. I have to be a step ahead of everything and catch stuff at the first sign of problems.

But they are doing more research. And they continue to find other things this might be linked to.

But than there is hope. With continued research, they will continue to find ways to treat the symptoms. They are doing research on a drug that some people are taking when they find out about cancer, and it slows the growth of cancer. So potentially, could there be a drug that wipes out her chance she will get a cancer? Potentially can this be obsolete, so when she is older, she doesn't have to worry about her decision to have a child herself? That she, herself, could be a mom and not have to worry what this means?

I am fearful for the day she starts asking me questions, and I won't have the right answers for her. I worry that her life will be filled with doctors' appointments, tests, etc and she won't know what it's like to be a "normal" kid. I am afraid of her having struggles in school, and if budgets are cut, will they cut special education and her ability to get services that she needs? The unknown freaks me out.

And I do struggle with this knowledge every day. I really do want my family and friends to know I am working on this. I really want to get to a point that I don't let it overwhelm me. But I feel like I have to stay up on the research. I have to read the journal articles. Because nobody truly knows a lot about this. So I HAVE to be the expert. So if I look like I am engrossing myself in it too much, I probably am. I don't want to miss any reports of it being linked to anything I don't know about and I miss the symptoms.

And it makes my eyes so much wider at work. The terms we use, the phrases we say. When parents are waiting for a test result that takes 6 weeks, we tell them not to worry. "Don't worry, we are testing for a genetic mutation that may affect your life forever - but I wouldn't worry until we have the results". Or when we use the phrasing "We don't know what it means, it could mean nothing, or it could mean she has x, y, or z" - we are setting these parents off into a world of unknowns, and it makes me fearful for them. It makes me want to hug them and say I am where you are. It makes me want to give them all the tools they would need on the outside so if this nothing does become something, they would know where to look. If it wasn't for where I work, I would not have found many of the resources we have found for Brooklynn. And I would feel helpless. And than I struggle because I keep my private life private (besides the blog) - I want to shout from the rooftops and open people's eyes to things that seem not so big (and honestly maybe it isn't so big and I just stress about it for no reason). I dont' know how to get our story out there. I don't want to blast it out, but I want to help another mom who might be struggling like me. Not saying I am where I could help. But eventually, I want to help others. I feel powerless right now, and probably because I feel so powerless over my own life.

So to my family and friends - I am adjusting. I would like to talk about it if you want to know about it. I am trying to adjust to this. I am trying to not let it engulf me. And if I ever dwell on it too much - you can knock some sense into me and say shape up! That's the long of it. My response to the question.

What is interesting is later on PTEN world, they posted as a family member or friend what do you want to know about PTEN? This made me think as well - what do others want to know? Are there any questions people would like to ask? If so, please ask. I probably won't have the answers, but maybe it would get a perspective or a question to bring me back to space. I feel like sometimes others don't want to ask, don't care to ask, I dont' know. But it is OKAY to ask. Just saying.