Special Needs Spotlight || Fragile X Siblings

Hi. I’m Rachael. I’m married to a fantastic and fantastically handsome man, Marc. We have 3 children ages 16, 11 and 6, whom all have what is called Fragile X Syndrome. Marc and I love adventure and friendship and we try very hard to include out children in as much as we can despite their anxieties, sensory issues or physical struggles. For my children’s safety, and my peace of mind, in public blogs I call my children Brother, Sister and Baby.

Miggy: Welcome Rachel, Thank you for being here and sharing your beautiful family with us today. You have 3 children all of whom have Fragile X syndrome. Starting with your oldest, can you take me back to the day you knew something wasn’t quite right with your son? How long did it take you to get a diagnosis? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now? Can you also tell us about the process of getting your other 2 kids diagnosed?

Rachael: When Brother was 3 months old a friend in my neighborhood who, at the time, worked in childhood early intervention approached me and said, “Um, there is something wrong with your son.” I wasn’t offended, just surprised that she would even notice anything of a baby of 3 months old and just assured her (and myself) that he was just a very tired and calmly happy baby.

Then at 9 months when he wasn’t rolling over, babbling, struggling with nursing, and not sitting up unless propped I went to that same friend and asked her where to turn.

To make a long story short, Brother was unofficially diagnosed as “Globally Delayed” (which, basically, means he’s so far behind in everything physically and mentally and cognitively that he needed all the amount of help possible). We went with this for the first 5 years of his life. Not because we hadn’t tried to find another, more official diagnosis, believe me, MRI’s, psychologists, psychiatrists, CAT Scans and observations had overwhelmed his life. We had given up on all the testing at age 3 because it was just too much for all of us to deal with emotionally and physically. During this break from a diagnosis my husband’s cousin said she had read an article about something called Fragile X Syndrome and thought that it might be Brother’s issue and gave me the website that was included in the article. As soon as I could I went to fragilex.org and began reading all about Fragile X’s symptoms and it all described our son to a ‘T’ or an ‘X’ if you will. Anyway I brought this up to his teachers and IEP team when he was in preschool and they assured me that Brother was WAY to high functioning to have Fragile X Syndrome. They had learned about that in college and they were not seeing the mental retardation (sorry, that’s the technical term used at the time) that they had learned was part of Fragile X. So, we just waited it out for another year hoping that we would have an answer some day.

“Have you ever heard of Fragile X Syndrome?” our Pediatrician asked when we came in for his 5 year well-check. I started to laugh/cry because I had and that’s what I wanted him tested for, I knew in my heart this was it.

One blood test later and it was confirmed that he had Fragile X Syndrome. This meant that our now, 9-month-old daughter should be tested.

She was diagnosed with it too.

Our world came crashing down. All the hopes and dreams we had for our children were dashed into pieces by an X. We went into a weird place of swimming in information because no one, including our Pediatrician knew anything about it and depression because it was, as if, we had faced the death of two children… all our hopes and dreams for them dead.

That was a tough few years and got tougher when we were surprised by a third pregnancy, our Baby. We had her blood drawn for the Fragile X test at birth and we were informed that she also had Fragile X Syndrome.

We crashed again.
Those were hard times.

Flash forward to now and we have just learned a new kind of normal and we dream different dreams. It’s Our Life.

Miggy: You are in the unique position of having 3 children with special needs. First, can you please educate us on Fragile X and how each of your children are affect? Also, how does fragile X affect your family’s day-to-day life?

Rachael: Fragile X Syndrome is the world’s leading cause of mental impairment and the leading known inherited cause of Autism.I know it’s a mouthful. FXS affects so much more than their mental abilities and is known as a spectrum disorder because it affects everyone so differently. For instance, many females diagnosed with FXS are quite high functioning and I know some that are even educated mothers and wives who never even knew that FXS was part of their life until their child was diagnosed. The reason females can be higher functioning is because they have the compensating X Chromosome that the body can rely on for higher functioning. However, both of our daughters are severely affected as far as females go and so I often feel like I’m walking alone a bit trying to understand their EXTREME anxiety, hyper-arousal, sensory issues and mental impairment that take over their bodies. On the other hand, males are typically very affected by FXS because they only have one X Chromosome to rely on and that is their affected one, but our son is considered high functioning for FXS. Don’t let the term “high functioning” fool you into thinking that he’s easier, it just means that he has learned how to adapt and communicate better than the FX ‘norm.’ For instance, with Brother, he has more of the physical characteristics like loose muscle tone, loose connective tissue and double jointedness that were part of why he wasn’t able to walk, crawl, or sit up until a later age.

Our day-to-day seems so normal to us until we have some one over and they observe our lifestyle. It’s funny to me when I realize that not everyone has to give their children 5 and 10 minute warnings to things like dinnertime, family prayer, a drive to see scenery, getting ready for bed–basically anything that changes. Anything. We are constantly on our tiptoes or eggshells depending on the mood of the day and we have to be fully prepared for any and all meltdowns and panic attacks that may occur because our lack of planning or pretty much any unforeseen occurrence that is not in accordance with one or all of their expectations. But, if we can be organized, prepared and use timers and picture schedules we can have some good successes.

Miggy: What are the biggest worries you face for your children? On the flip side, what are the hopes and dreams you have for your children?

Rachael: Sadly, my children have faced abuse and bullying so I guess those big worries have already happened so now I worry about the other things like, “Will they ever … ” nything you hope for your child. Looking into getting legal guardianship of my own children by their 18th birthday to assure that I can still help them in life. And, heaven forbid, that Marc and I die before they do.

My hope is that Brother might be able to be in the competition choir at his high school by his senior year and maybe even be a yell leader or captain for the cheer team.

I hope Sister succeeds in track when she starts Junior High school because she shows so much potential in running.

I hope that Baby is potty trained before 8 so that she can play with kids her age and not look like the over-sized 2-year-old toddler in the group. Oh, and I hope that some day she learns to ride a tricycle or bike someday.

I’ve learned to hope for the near future and plan for the further… it’s just how I survive.

Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?

Rachael: I have realized that not every 11-year-old on the planet is terrified of a tornado coming when the clouds come in (we live in Utah for Pete’s sake). I know that not every 16-almost-17-year-old young man loves to spend hours coloring my little ponies. I also know that people might be a little surprised when asked how they can help with Baby and I tell them to sit on her or roll her in a rug…

Miggy: How can people best approach or respond to your children? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

Rachael: The best way to approach Brother is to talk to him without looking him in the face. I know it sounds weird, but he responds so much better when he doesn’t feel the pressure to make the eye contact. So I have taught people to look at the floor when they are talking to him and as he feels more comfortable he will make eye contact.

With Sister, she just wants to be involved with everyone else and be like every one else. She doesn’t see that she is different. This can be hard for kids because they will treat her the same as others and then she may have a meltdown or panic attack and they don’t know how to react. This is just something that a person has to get to know about her and know that it is not their fault or that she is mad at them, it is just her body reacting to her surroundings.

Baby loves to be loved, hugged, squished and loves to giggle. People just have to not be afraid to show her affection and compassion. She senses who will do this for her.

Miggy: If you could say something to the mom who just starting on this journey of special needs, what would you say? What would you say to yourself if you could go back in time?

Rachael: I would say the same thing that was told to me by a fellow FX mom when I reached out to her for help, “First, take care of yourself.” I was slightly taken back by this statement and thought, “Hello? Did you just hear me tell you my child had Fragile X Syndrome? How could I possibly think of myself?” After a while I understood. If I wasn’t emotionally and mentally OK, I wasn’t emotionally and mentally OK enough to take great care of my children. I had to make sure I was strong enough to take on the challenges I had been blessed with.

If I went back in time I would tell myself where we are now and to not lose hope, the sun will come.

Miggy: What is the biggest lesson you’ve learned since becoming a Fragile X mom?

Rachael: Never stop laughing. There are SO many funny things in life when it comes to raising children and it is now different with Special Needs. Life is to be loved and enjoyed regardless of your circumstance. Laughing together and laughing after a trial is over doesn’t mean you are insensitive, it just means you know how to make lemonade!

If you want to read about how I laugh at things sometimes and how I cry about things too, sometimes even cry and laugh at the same time you can check out my blog at marcandrachael.blogspot.com

Rachael, thank you. That was so beautiful; Raw, real and uplifting and hopeful. I appreciate your honesty in how very difficult it was for you with each of your children’s diagnosis. Its so important to live in our truth–even if that truth is difficult and heartbreaking–because it helps us move on to the next chapter and you summed it up beautifully: We dream new dreams now. And I love that you said, never stop laughing. Yes! Life IS to be loved and enjoyed despite our circumstances and like you I believe there is joy to be found everywhere, even if we have to dig a little to find it. Thanks again Rachael, your family is just beautiful. Sending you so much love.

As always if you or someone you know would like to participate in the special needs spotlight please email me at thislittlemiggy @ gmail dot com.

Have a great weekend!