Tuesday, July 25, 2017

Imperfect Hope-Living with Fragile X Syndrome

July is National Fragile X Awareness Month…..and there are a lot of things that you will NOT learn about Fragile X Syndrome by looking at the web, Facebook or Twitter.  To learn the real facts about it, go to the website www.fragilex.org. That's what this month is all about...learning something you may not have known before.

Hope is not a word that my husband, Chris and I say with casual disregard.

I clearly remember the day we got the diagnosis of Fragile X Syndrome for our oldest son, then 2, and the subsequent same diagnosis for our youngest. All hopes that my husband and I had for a fairytale future went out the window.

In the early years, we both walked with a permanent bend in our spines as we practiced walking our son; our hands in his little hands held over his head, holding his little body erect, hoping he would take his first steps at the prescribed age of 12 months. The long awaited moment gradually came at the age of 17 months, long after his "typical" peers.

Symptomatic of fragile X are the speech delays. I prayed, wished and hoped with all my might for words to spill out of my determined son’s mouth. I longed for him to utter the words, “I love you Mommy”, or “Mama”, or something……anything.

There were daily, physically exhausting elements of fragile X that beckoned every ounce of determination and patience in us—7 long years of sleeplessness; 10 years of insurmountable potty training…we thought, all testing how much we loved our sons.


The beginning of the dreaded potty training

As the neighborhood kids rode their bikes up and down our street, our youngest, Joe, watched with curiosity from the window. I saw the hope and excitement in his eyes while my heart tore into a million pieces, knowing his fragile motor skills would not cooperate with such lofty goals. Later that year, we bought him a bike with training wheels, assisting him until our backs arched in a semi-permanent state from “side-steering”. The very day he finally learned to pedal that bike years later, a tear welled up in my eye as I saw one of those kids drive past. Joe never really learned to ride that bike independently.


One of the first moments of Joe on his new bike--standing still.

Little league sports were everywhere as the years passed and our two sons grew. We were on a course of therapeutic swinging and deep pressure in and attempt to calm and gain some semblance of focus. Bouncing a ball was out of the question.  Following rules and directions were not words in our vocabulary. Hope had disappeared it seemed.

The very idea that our sons were going to someday be adults….without us……kept us awake at night, and worried during the day.

Our boys continued to grow and develop and learn and love.

Their parents continued to grow and learn and acquire acceptance.

And then they did become adults. All of the distant worries and faded hopes disappeared. Our sons were still grown. In fact, they grew into happy, productive citizens of their community, just the way our modified plan exclaimed. There is no cure for Fragile X Syndrome—it’s a lifelong diagnosis—nothing has changed in that regard. But, our view of hope has changed.

Looking back, I realize that hope was with us all along. 

When the words spilled out of the Doctor’s mouth, she was right there with us providing support.  She offered us resources, and help and hope.

When Jake finally said his first word at the age of 6, we knew why and how because a very special Speech Therapist and Occupational Therapist (OT) had taught us.  As Angels do, they took Jake under their wing and helped him, step-by-step, bit-by-bit, giving us more hope.

With each improved motor skill like pedaling a bike, or bouncing a ball, or simply learning to regulate their bodies, hope was always all around us. Kids from, what seemed like out-of-nowhere, appeared to guide our sons to love basketball and baseball….and offer friendship. Tiny baby steps of improvement were there—we just had to adjust our eyes to see them.


Jake with his friend, Daniel, who guided him in basketball for years.

Other “Angels” like Teachers, Para’s and friends provided sprinkles of hope, day after day, year after year.

We are far from finished with daily challenges, but we have knowledge and resources. We have hope each day—imperfect hope—a hope that allows us to continue moving forward, knowing that it can and will get better.  Since that dark day 26 years ago, life is so much better than we ever imagined it could be.

We have built a wonderful, caring world around our sons with friends and neighbors; family and professionals; all working with and loving them.  No, they will never love our sons the way we do--but, that’s how our imperfect hope works.

Now, here we are in the land of grown up, dependent children—the unknown future--wondering if our sons’ futures will evolve to be what we envision. We’ve already learned that any attempt at a perfect hope was a dream derived from convention. For me to have wished that Jake would come right out and suddenly say, “I love you Mommy” was not realistic. What DID happen was perfect for him……a miracle for me.

I submit that if I had a nickel for every moment I wasted on worry and despair, I would be wealthy. Most things I worried about turned out in the end. So, now should I revert to that old routine after all of these years of learning?  Worry about things that I can do something about? Worry about things that those consummate Angels will help us with?

Chris and I cannot predict the future—no one can. Looking back at all of these moments when we questioned hope, and later, clearly saw the positive outcomes, has helped us see a continuous flow of hope. It gives us precious perspective that we need to carry us through the tough days still yet to come.

For those families that are just beginning their journey, I want you to know that THERE IS ALWAYS ROOM FOR HOPE.  It’s there…..you just have to open yourself up to see it clearly.




Personal note: I have enjoyed sharing our family’s story during this month of awareness. I continuously feel driven to write and write and write. THANK YOU for reading about our journey. It means the world to us that you care enough to read and learn.

To learn more about Cindi Rogers, her book or follow her family, please visit mrsrogersworld

Tuesday, July 11, 2017

The Major Issue with Fragile X Syndrome No One Seems to Talk About

July is National Fragile X Awareness Month…..and there is one major thing you will NOT learn about Fragile X Syndrome by looking at posted facts on Facebook or Twitter.  For all of the scientific facts or to learn more about fragile X syndrome, please take a moment to go to www.fragilex.org.


In my one-and-one-half hour drive to work this morning, I was able to fully contemplate every aspect of the subject matter for this blog.  I mulled over the many chapters of my life and how it relates to the one thing that no one seems to talk about when it comes to fragile X syndrome—marriage.

In 1985, when Chris and I made our way down the perfectly groomed path of his parent’s back yard to recite our nuptials, I somehow doubt that any one of the more than 100 friends and family gathered were wagering on whether or not we would have a son or daughter affected by a genetic anomaly called Fragile X Syndrome.  How could they?  No one had even heard of it back then!

As Newlyweds, all we thought or talked about were goals, dreams and predictable difficulties yet to come. We shared thoughts on future disciplinary methods for children yet to come, what would bring each of us joy, financial goals, work/job goals, what we envisioned our future to look like and a thousand other things.

Five years later, as we both looked down into the angelic eyes of our first-born son, we still had no clue what we were in for. We shed tears of joy over his arrival and reflected deeply into the bright future that our progeny presented. We dotted over his every move and milestone, until those milestones were delayed and delayed, causing his worried parents to sink into an unfamiliar life of question and uncertainty.

Twenty-six months later, our second son was laid in my arms, and again, I wept tears of joy, but also tears of concern. I passed the little, warm, innocent creature to Chris, and watched as small wisps of fear appeared in the worry lines of his face. Virtually days later, our entire existence would change.

We heard those hallowed words “both of your beautiful boys have a genetic developmental disability called Fragile X Syndrome”…..and there was NOTHING we could do about it.  There was no cure.  Our married life had shifted into a whole new dimension with this news.  We were forced to question every fundamental moral and life value that we had previously laid out. 

One new assignment was laid in our laps right away.  We had to learn how to cope while learning how to grieve.  It was immediately obvious that I would grieve at a different pace and in a different way than the one person that I thought I knew better than anyone.  I grappled for information and asked questions while Chris stayed silent, taking in the realities. We had to figure out how to keep it together for the boys, but still support each other, even though we were in totally different places emotionally. The reality that very precise, minute, little dreams were dying one-by-one before our eyes, made the task even more daunting.  How could we possibly overcome so much devastation and do it together….and stay together?

For the first four years or so, we merely existed, not comprehending the extent of the implications some microscopic gene would play in our life. I found myself crying over small things, but didn’t always understand what I was crying about. Chris stayed strong and upright, but inside he was angry. Over the years, we each did progress through the entire grieving process at our own pace, doing our best to support one another. How we did it, I am not completely clear on, but I think a strong love surely helped.

I cannot put my finger on any specific reason that we’ve made it 32 years. I can point to some coping skills that we’ve eased into naturally, as well as some things that I, personally, would attribute to our wedded longevity.  We, of course, are not perfect, just like all couples. We have good days and bad…but more good as the years go by.  We have squabbles, compromises and miscommunications just like everyone else.  But learning each other’s rhythms has certainly added to a positive day-to-day life.

It can’t hurt that we met each other in Mrs. Johnson’s 7th grade French class (for full details on that story, click here The Lost Chapter).  Having 8 years to get to know one another before we were married didn’t hurt. By the time we got married, we really knew each other pretty well! Now, we own and run a company together! Yes, we see each other every day and work together, too!

On the jobsite  (on our Anniversary no less!) as we
run our commercial plumbing company together.

I have to say that one thing rings pretty clear when it comes to our happiness as a family despite fragile X….finding small moments of joy can carry us through those tough spots.  Once we learned how to see these small moments of joy, we all woke up and were able to see the blessings instead of the sorrow, the devastation, the sadness.  Small moments of joy can be found in the strangest places.

Sometimes, during a rough patch, I’ll head into my peaceful place….my kitchen. I find that doing some mindless chopping or stirring or measuring brings me back to an even keel. I’ll open the refrigerator and pull out some Italian sausage, some hamburger, some green pepper, onion and celery, and lay them on the kitchen counter.  I’ll turn toward the pantry and gather a few cans of pureed tomatoes, some tomato paste and a handful of different herbs. After a few minutes pass, Chris appears right beside me wielding his favorite chopping knife and a cutting board to serve as my sous chef.  No words are spoken. We each enact our own steps as if to follow a well-choreographed dance that we’ve done many times before.

The aroma begins to fill the house. The table is set and wine is poured. We calmly sit together as a family. Plates are heaped with noodles (sometimes homemade if we are all feeling particularly in need of comfort), then ladled with sauce. Sprinkles of fresh parmesan are dropped on the surface like little snowflakes. The boys eat their meal in the characteristically fragile X way, with the fervor of a famished animal, wiping their faces and leaving the table. Chris and I are left to enjoy the fruits of our labor and a glass of Chianti. This always seems to incite calm conversation followed by settled nerves.  It’s a small thing, but for us it’s what gives us joy and resolution. We can come together over a delicious meal and approach whatever is hovering overhead in a more approachable mood, together. We seem to have some of the most productive conversations over a meal we’ve prepared together.

One of many instances where we share a special meal together--my birthday.

I realize how incredibly lucky I am to have a life partner that supports me no matter what the challenge, and I him.  I have a best friend that I can lean on or cry on whenever I need to.  No marriage is easy, I realize.  There are tough times in every life. There are days that I curse him and he curses me.  Let’s be real here. We are human. We have all of the normal married life stresses, along with one additional, huge element.


Having a devastating diagnosis of Fragile X Syndrome for both of our sons has added a huge layer of stress, responsibility, a shift in our dreams and hopes, financial hardship, an uncertain future, and yes, daily frustration. We are in this life together for the long haul.  Nothing is even close to the way we dreamed it would be in those early years……it’s better.

During this month, I will share our vision for the future as we face difficult decisions.

To learn more about Cindi Rogers, her book or follow her family, please visit mrsrogersworld

Wednesday, July 5, 2017

What the Facts Will Never Show About Fragile X Syndrome

July is National Fragile X Awareness Month…..and there are a lot of things that you will NOT learn about Fragile X Syndrome by looking at Facebook or Twitter.  Let’s start with the things you will learn by going to the website fragilex.org or by reading posts from people on Facebook or Twitter.

-Fragile X Syndrome is the most common inherited cause of intellectual disability and autism and can range from mild to profound impairment.
-The gene responsible for Fragile X is called FMR1 and is found on the X chromosome. Everyone has the FMR1 gene on their X chromosome
-The FMR1 gene was identified in 1991.  The FMR1 gene makes a protein (FMRP) that is important in brain development. Individuals with Fragile X Syndrome (FXS) have a deficiency of this protein.
-Mutations or changes in the FMR1 gene lead to developing one of the Fragile X conditions.

There are a myriad of other things to know factually and scientifically about this genetic developmental disability, so I hope that some percentage of you will take advantage of the onslaught of information available during this month to really learn about Fragile X syndrome.

I consider myself to be highly qualified to speak on the subject due to the fact that I have two adult sons that were born with Fragile X syndrome.  Somehow, 26 years of living with it makes me a certified expert….or something of that nature. 

Sometimes, I find much of the information on the subject to be equivalent to blah, blah, blah, blah…..blahhhhhhhhh.  All of the scientific jargon is well and good, but it doesn’t get to the real picture of what our life truly looks like.  For that, I need to dig deeper and take a chance by opening up myself so that you can glean, perhaps, even a small taste of what it’s like day-to-day.

There are good days and bad days, much like every other human being on the planet.  But the bad days can be really bad.  Behaviors have been a big part of our life, although they have dissipated as our sons have aged.  Sleep problems are also common in children with the full mutation of fragile X, which in turn, causes the parents to be sleep-deprived and cranky.  Stresses about the children’s needs and the financial means to meet them are ongoing.

As a couple, our worries are unlike any other couples that we know—they are far-reaching, and will never end until we die.  Our children will be our responsibility until that time; day……………and night. We will likely never be “empty nesters” in the true sense of the word. Having a night out together as a couple can be a real challenge, let alone a weekend away.  Imagine…..finding a “sitter” for two adult men, ages 26 and 28 years.  Not an easy task.

Getting our sons jobs, helping them in everyday tasks, keeping them safe, coordinating appointments, mastering technology so that we can try to stay ahead of whatever device is necessary in their routine, and on and on and on and onnnnn…………..it can be overwhelming and exhausting.

But……we’ve found ways to cope with all of it.  It’s become our way of life and we’ve managed to create a pretty nice life at that.

In the midst of all of this lack-of-what-we-don’t-have, let me also tell you what my husband, Chris and I do have that facts will never display.

We’ve become members of a society that no one wants to join, but once there members are glad to be a part of. As a result of some stupid gene that mutated without our consent, we now have friends all over the world that I know we could reach out to on any given day, make a request, and it would likely be met with the words, “How?” and “When do you need it?” We share a special bond.

There have been many opportunities for our family to meet other families in smaller venues; more intimate opportunities like the one we just left.  Our family just spent 5 glorious days with two other families, in the beautiful splendor of Montana camping and enjoying every moment together. When we were together as families, these friends never asked why our sons do this thing or that. There was never any question about what kind of disability our son has, or why they are on a certain medication, or why they might open the RV entry door appearing solely in their underwear.  Nothing was strange.  No explanations were needed. No looks of disdain or embarrassment were exchanged between parents. It was so comfortable, like my favorite pair of aged, well-broken-in shoes.

Our children never felt weird around each other, never needed to have constant interaction, or even say a word to each other to know that they were there….just being themselves.

A simple 99 cent beach ball provided hours and hours of fun in the campground swimming pool for seven kids ranging in age from 10 to 28.  No questions were asked. The directions were simply understood and everyone was in the same zone. The feelings of joy abounded as each child did his or her part to play the game of hitting the ball back and forth. Each adult beamed with a smile from the skills that their own child and those of others, exhibited.  Perhaps there were newly found skills, or perhaps they were familiar.  It didn’t matter. A warm relief rose up in me knowing that my sons were having so much fun. It didn’t matter what genes they were born with. There was no attention paid to the things they couldn’t do. The focus was simply on fun.
7 kids and 3 Dad's with our 99-cent beach ball

During several sessions of swimming and beach ball hitting, another beautiful thing happened. Other kids without fragile X syndrome saw how much fun we were having as the ball volleyed back and forth between kids and parents, and they wanted to join in, too. There were small kids and even teenagers that paid no attention to any genetic developmental disability—they just saw fun and wanted to be a part of it. They were just being kids.

We shared three meals a day together, accommodating everyone’s taste preferences, without incident. Bedtimes were flexible based upon each person’s personal routine (routines are critical in our life!). No sacrifices were made. Parents helped each other’s kids with mindless effort. Stories were shared around the campfire as heads nodded in familiar adoration.

The daily feeling of anticipated-explanation and necessary definition-giving conversation that the public requires were absent during this 5-day trip.  There was no need for these dreaded words. It was all unspoken, familiar experiences. THIS was the antidote that we all relished.

This morning, we gave hugs, elbow-fives, high fives, and hugged again to close this visit of friends that came together through a challenging, devastating genetic developmental disability. We packed up the last camping chair, and prepared “Rocket” (our RV) for the journey home.  Then, we waved incessantly until we could no longer see the physical presence of these dear, special friends.

Now, as Chris skillfully guides “Rocket” southward toward home, we both feel content and fulfilled. This visit was just enough of a recharge to get us through whatever may come our way, until we can do it all over again.  It reassures us once again that we are never alone. The importance of this one thing is larger than I could ever portray.
Our older son receives a long-awaited, but promised, "hoodie hug" from our friend
  

Next month, we will celebrate 32 years of wedded bliss and we will continue our effort to face each day with resilience, love and compassion. We will do our best to provide our adult sons with a high quality of life through focus and determination. In many ways, I think it’s what pulls us all together even closer. We are not perfect, but we do our best most days. It’s not easy when a marriage has the added stress of a fragile X gene thrown in. As July ticks quickly by, I’ll share a few of the experiences we’ve endured in our marriage…………… so keep reading.

To learn more about Cindi Rogers, her book or follow her family, please visit mrsrogersworld.com