Wednesday, February 29, 2012

What it's like to be rare

Today is Rare disease day, something close to my heart. Why, you may ask? I have at least two children and a husband effected by a very rare genetic condition. For years we had no idea why Janelle (Now five) was lagging so far behind her peers. I fought and searched for answers no one seemed to have, but I wouldn't give up.  I knew somewhere out there someone knew what caused her to have so many problems and I did find the answer in her chromosomes. Janelle has a rare genetic disorder called IDIC 15 ( I thought by having an answer I would be able to know what her future would be like, what her medical treatments should be, but sadly that's not the case, she is rare. So rare in fact all the answers are not there yet.

I often worry about the unknown. I want so badly to say okay this is what her future holds and she will end up with this condition or that condition. I wish I could just reach inside her sometimes and rip out that little bit of extra that has caused all of this or hold her in my arms and make it all go away, but I know that can't happen. There is no cure, there is no way to change what is.

People often say they understand, but unless they have had a child effected by a rare condition they don't. They have no idea what it's like to go from specialist to specialist and have more therapist than friends. They have no idea what it's like not to live from day to day, but appointment to appointment. Sure some have empathy, but they don't understand. They have no idea what it's like to have a five year old with the tendencies of a two year old. They have not a clue what it feels like to have your life revolve around numbers and letters most would view as alien code, but I can read like an FBI decoder. I don't get mad when people say they understand. I just smile and nod and know what they mean is I'm hear to listen.

When you have a child with a rare condition a lot of people leave your life. I'm sure they don't mean to, but they don't know how to handle the fact your life is all about that child now. I can't talk about the weather when my mind is on an MRI. I can't go out to lunch because we have a physical therapy appointment that day. I'm sure they get sick of hearing about duplication and deletions, but that is my life! That is what it's like to be rare. My life is nothing like my friends, even though some days I wish it was. I wish I could watch as my child did the things others do. I wish she could go places other children can. Heck, I wish she could fit into normal clothes!

There are a lot of tears when one deals with a rare condition. There have been days I have thrown a tantrum like a child and screamed it's not fair. There are nights tears just begin to flow down my face when I look at my children. It's not because I am sad they are effected, but frustrated I can't do more for them. I had dreams once when I was pregnant, dreams I have had to let go and it hurts, it hurts more than anyone could ever imagine, unless they too deal with that same loss.

There are amazing things that come out of being rare too. Lessons only these children can teach. I took for granted my older children's milestones. I have to really think about it to remember their first steps or words, but not Janelle's. I remember the first time she took a step. I even remember the first time she threw a fit. I have often wondered what a baby book would look like if it was designed for a child with a rare condition. Milestones like talking back and asking for a drink would be celebrated sometimes more so than the first tooth or when they crawled. Each milestone for Janelle is met with tears of excitement from me and an internal party because I always knew she could, even when doctors or therapist said she wouldn't.

When Mathew came along and showed signs he too had the same condition I wasn't as afraid, but I was angry. I was angry another child of mine would have to go through the things Janelle had. I was angry with the world that this could happen to me again, but then I looked at Janelle. I remembered she's my heart. She's the child everyone loves and is drawn to. She's the little girl that bases beauty on kindness and love. She's the child who sees people for who they are not what they look like or have. She is rare and beautiful and so is Mathew.

That's what it's like to have a child with a rare condition. It's scary, it's constant worry, it's ll the unknowns, but it's also beautiful, loving, and has shown me one thing beyond anything else, there is a God and He has truly blessed me!

1 comment:

  1. What a beautiful post Steph. You are so completely honest and full of heart when you talk about your kids. They are so fortunate to have such an awesome mom!!