Living With Fragile X Syndrome

148880_457196638260_3772519_n[1]Kari Schwartz and her husband Aaron have been together for seventeen years, married for eleven. “Seems like forever.” She told me in our interview. Never really interested in having children, she and her husband’s perspective changed when Kari’s twin sister had a set of twins. “I credit my niece and nephew. They completely changed our minds.”

Their home was blessed seven years ago with their beautiful son Talan. Kari remembers “knowing” there was something “not quite right” with her baby when he was around three months old. After months of missed milestones, Kari enrolled him in an Early Intervention program. At twenty-eight months old, Talan was diagnosis with a genetic disorder called Fragile X Syndrome. Devastated but relieved at this news that would change their lives forever, the new parents did everything they could to prepare Talan for the challenges he would face.

A few years after Talan was born, Kari and Aaron found that they were expecting another child- their daughter Presley. With Kari being the genetic carrier of Fragile X, they questioned themselves and the risk of the fifty percent chance Presley would also be born with FXS. However, their concerns were quickly put at ease when their daughter was born without the genetic disorder.

Although I don’t know Kari well, I see her frequently all over town with her children. Whether it’s at a baseball or football game, the grocery store, out for dinner or ice cream, at get-togethers with mutual friends-Talan always appears happy and secure in his surroundings and totally adjusted no matter where he is. This I have always attributed to Kari and Aaron being great parents.

I approached Kari about an interview for my REAL WOMEN page, because I feel she is one of many woman who deserve the title “Supermom.” I was interested in learning more about Talan’s disorder and wanted to share her unique story. Kari’s trepidation at exposing herself and her personal life was overcome by her passion for spreading awareness about this seemly unknown genetic disorder. In my interview with Kari, she opens up her thoughts and feelings about having a child with Fragile X Syndrome. She bravely reveals her personal life in the hopes that you and others will gain knowledge and respect from her story.

THE INTERVIEW

  • What do you want people to know most about yourself?

I feel the most major part of me is my family. I am who I am because of them. I love my children more than I can even wrap my brain around. I will always do anything I can for any of them. I feel I’m a giving person (except when I was pregnant- I’m pretty sure I told a co-worker I’d kill her if she took the last cookie in the break room.) I try to find humor in myself and others. I feel I’m pretty balanced between seriousness, humor and sarcasm. Our conversations at home are always full of sarcasm. It’s more fun to laugh with others and at yourself.

  • Your son has Fragile X. Tell me more about this condition and what it means for him and children like him.

Talan was diagnosed in July of 2008 at 28 months old with Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability. It is also the most common known genetic cause of Autism or “Aut251733_2138438546002_7340016_n[1]ism spectrum” disorders. FXS is a genetic condition that causes intellectual disability, behavioral, and learning challenges along with various physical characteristics. Males are more frequently affected than females and generally with greater severity.

Physical characteristics usually include: large ears, long face, soft skin, large testicles (in post-pubertal males), connective tissue problems such as ear infections, flat feet, high arched palate, double jointed fingers and hyper-flexible joints.

Behavioral characteristics can include ADD, ADHD, Autism, autistic behaviors, social anxiety, hand biting, hand flapping, poor eye contact, sensory disorders, and increased risk for aggression. FXS characteristics in females are often milder in all areas.

Fragile X is associated with the expansion of the CGG DNA repetition which affects the FMR1 gene or the X chromosome. This results in a failure to express the FMRP, which is required for normal neural development. The classification of “intellectually normal” and Full Fragile X Syndrome are dependent on the length of the CGG repeat. Genetic testing is required to diagnose FXS.

We really have no idea how Talan’s adult life will be- we take everything as it comes. There isn’t too much planning we can do. I believe that Talan having received Early Intervention from the age of 16 month to 3 years has helped tremendously in his development.

In addition, I have been very fortunate to have been able to stay at home while my husband works long, strange hours. I feel it has made an enormous difference in their lives and I believe it’s a privilege to do so.

  • What do you think the biggest misconception of Fragile X is?

The biggest misconception of Fragile X is that it’s an Autism disorder. The two run on very similar parallels but have distinctly different characteristics. It is however, possible to have both FXS and Autism.

  • Give me an example of what a day at your home is like with your family.

Our daily life has a routine or schedule even though some days are drastically different. I try to keep everything happening in the same way every day to make other changes go unnoticed. Talan’s schedule at school is pretty structured as well. Things go much smoother if he knows what to expect and what is expected of him. Other than that our daily life is just as crazy and typical as all other families.

  • What type of strain did that put on your family/marriage and how did you handle it?

The day Aaron and I received Talan’s Fragile X diagnosis was the worst day and the best all wrapped up together. Obviously the worst since that news was so devastating- we knew life would forever be different. But it was the best because finally having a really concrete answer was such a relief. The diagnosis gave us a path, although never clear, we had the grounds to go forward with therapies and future planning. We knew the he was not going to be “normal”, but we knew we had to make life for him as normal as possible. It’s hard- knowing the things he won’t be doing like sports. Aaron has a love of sports and would really have enjoyed watching him play, although Talan does enjoy watching.

The constant questions and worrying if we are making the right decisions for him are the hardest. But just seeing him so happy makes everything a little easier.

  • What is your biggest “Ugh” moment?

299874_2359592523681_431035210_n[1]There have been lots, but I’ll stick to the most recent. Talan has a very repetitive way about him, whether it’s what he’s talking about or what he’s interested in doing. Right now his obsession is erasers. Yep- erasers. Odd, I know. He likes all kinds of erasers and erasing. We have about fifty pencils in a drawer that he keeps collecting from school. Even the ones that aren’t sharpened have no erasers left. He will erase plain paper, write then erase, he’ll erase in a coloring book. He constantly wants a pencil sharpened so that he can write and erase. Finding the eraser shavings all over the house is what really gets to me. It’s everywhere- in his bed, all over the tables, chairs, really any surface he can erase, there are shavings. That and the fact that he eats like a grown man on steroids- full meals every two hour, not including snacks in between. I feel like all I do is make food and clean it up, six to seven times a day.

  • What are your thoughts and worries with your son growing up in this world?

My thoughts and worries can vary from day to day. Some days I am so thankful that we live in a time when people are much more accepting of people with disabilities and also that we are making great strides in education and medicine. Other days I find myself worrying about things like- will he ever drive? Will he have friends- true genuine friends? Will he live on his own? Will he have a job? What will he do when I’m gone? I’m sure a lot of parents have similar thoughts as well.

  • What do you consider your greatest accomplishment with regards to your children?

I consider my greatest accomplishment with my children the fact that they are kind, sweet and loving. I make sure they treat all people with respect and always say please and thank you. That may seem a little simple, but I have had many encounters with other children and adults who have never muttered those words. That’s not the type of child I’m raising.

  • Looking forward, what do you see for yourself and your family?

That’s a very hard question to answer. Even though I am a “planner” by nature, I do not look far into the future. I have found that with Talan, things change daily. So having a vision of the future is pretty difficult. Sure I hope for “normalcy” but our normal is ever changing. As long as both of my children have happy, healthy lives, that’s really all I can ask for.

  • Words of advice for other moms out there?

My advice for moms is and has always been to trust your instincts. You have intuition for a reason and should use it. I’ve done things with Talan that others have discouraged- like moving him to his toddler bed, beginning to potty train him, putting him in dance class, the list goes on and on. I listened to myself and made decisions that way. I also believe that no one knows your child the way you do, so trust that. We have a joke in my family- I always know when Talan has to use the bathroom – a mother just knows.

5 thoughts on “Living With Fragile X Syndrome

  1. Great Job Meghan! This was informative and not too heavy. (If that makes sense.) It sounds like Mothers intuition wins again with Kari, and Talan is blessed to have her as his Mom / Advocate.

    Like

  2. Thanks for this message. I’m a geneticist and an adoptive father of an FXS boy. I’ve found myself as an advocate, and cited your site in a presentation I gave recently. Hopefully your words will continue to reach the people.

    Like

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s