Fragile X Syndrome (Kim Klippel)

• How does it feel to be the parent of your child?

It has been a joy for me to watch Rebecca blossom. Tom and I thought she was completely fine until we were noticing she was hitting her milestones late. At 12 months she finally sat and at 18 months she was still not walking. We were concerned so we took her in for testing and the doctor told us that she would develop when she’s ready. This was not good enough for me. Even my daycare teacher told me she was concerned about his behaviors because he would not follow simple commands. I went to over a dozen doctors trying to find the right answer. Several doctors told me that Rebecca has Autistic-like behaviors, but they were not comfortable diagnosing her just yet. Finally, the Developmental Pediatrician had my husband and me come back in a few months for more testing. Then, he said the genetic test showed she had Fragile X Syndrome. We had never even heard of it before! What was going to happen to our baby girl?? I wasn’t ready to be the parent of a child with special needs...not my baby! When I went home to look it up, my girl only shows one of the symptoms, which is being developmentally delayed. Other symptoms include: the long face, large ears, flat feet, unstable moods, or loose joints. My child appears “normal”, but she is a special girl with needs. I hope people don’t neglect this about her. We have our good and bad days, and some prove to be more challenging. Some days she just has these tantrums and just wont stop. All I wish is for her to be happy. It is so painful to watch your child be so frustrated. Yes, I had not intended on raising a child with special needs, but she is now three and a joy to my life. This disorder is not terminal, so I can’t act like she is going to die. There are many worse things, but I fear for her future. What will this be like when she gets into school? Will she adjust? Will she be picked on? The future is unknown, but I can just live in the moment and be thankful for my beautiful baby girl.

• How is your child developmentally the same or different from other children at the various ages?

As I said, Rebecca hit all of her milestones at a later age. I am hoping that she can “catch-up” to other kids her age in the future, and I will support her in any way I can to make sure she can achieve all that she can.

• What professionals/agencies do you deal with? What services are available to you and your child?

Unfortunately, Fragile X Syndrome does not receive a lot of support because not many have heard of it before. I am becoming involved with the Fragile X Association of Southern California, however, as a support group with other families and to raise funds for a cure. I haven’t had to deal with any agencies yet, but I am anticipating that there will be some help out there. From what I have found, there is hardly anything besides support groups. My doctors recommended that I look more into the National Fragile X Foundation.

• How did you find out about the above services?

I’ve been researching online and asking doctors. Not too many people are helpful with this disorder.

• What financial burden, if any, are you experiencing?

Rebecca has been put on several medications to help with several aspects of her disorder, such as behavior. A lot of these medications are paid out of pocket and can get expensive very quickly. There are also many experimental drugs out there, but I think Rebecca is too young to be trying medicine like that.

• What other information do you want to share?

My child is a gift and deserves to be happy too. Don’t take this away from her by labeling her and treating her differently. She has her challenges, but nothing will stop that child. If she really wants something, she will find any way to get it. I hope she never loses that inspiration and determination. While my little Rebecca does not look like she should be labeled because she doesn’t have the irregular physical traits, do not be afraid of ones that do. They are people too and have a big heart to give.

Here is the link to my glogster to learn more:

http://kimklip.edu.glogster.com/fragile-x/