Fragile X Writers Series - Fragile X Between Sisters

This week's Fragile X Writer is an inspirational mom and blogger friend of mine - Kristie Meyer, of Life with My X Men.  Kristie and I met for the first time in Miami too, although I felt like I already knew her and her family, being a devoted follower of her blog.  Her two sons with Fragile X - Drew and Blake - are a couple of years old than Zack and AJ, so sometimes I feel like I might be reading about our own future possible experiences, our own progress and joys and challenges, when reading about Kristie's families adventures.  The following is the story of how she first found out about Fragile X.

 

 

 

I was married to Eric in May of 1999.  Six months later, I was pregnant and thrilled.  My sister, Kelly, was also pregnant at that time, about three months ahead of me.   My niece was born in April of 2000, and Drew was born in July of the same year. 



Drew

Kelly and her husband, Tony already had a son, Kyle.  He was two and a half and developmentally delayed.  He was already in early intervention services, but had no official diagnosis.  He had some disturbing behaviors like head banging and a lot of angry outbursts.  They had taken him to see many doctors and had been told that he was “too social” to be considered autistic.  Their search landed them at Cincinnati Children with Developmental Disabilities.  They did a whole workup on him, from speech evaluations to physical exam and genetic testing. 

 

A month or so after Kyle’s initial appointment, Kelly had a follow-up meeting to discuss the results of the tests.  There was a geneticist there and she told Kelly that Kyle has something called Fragile X Syndrome.  I was with her at this appointment as were Kyle and our babies.  The geneticist said that Fragile X was a genetic disorder and asked about our family.  We told her that I am Kelly’s only sibling.  She said that our babies were at risk for having this and we should have them tested as well.

 

Drew was six weeks old at the time.  We had his blood drawn and waited about six weeks for the results.  On October 27, I got a call from the geneticist’s office.  They said, “Mrs. Meyer, I am calling to inform you that your son, Andrew, has Fragile X Syndrome.”  It was the call that changed our lives.  I told Eric and cried on him.  He just held me and said we’d be okay. 

 

As it turned out, both my sister's and my new babies tested positive for Fragile X.  Telling extended family was a painful experience.  Our parents were very supportive.  My mother-in-law told me that God must have thought we were pretty special to give us such a special boy.  I knew she meant well, and now I can see that it was said in love and to comfort us, but at the time I didn’t find comfort in her words.  I didn’t really want to be chosen for this special gift.  We had extended family who said very hurtful things when they learned of it.  Thankfully, most were supportive. 

 

 A month after diagnosis, my sister and I went to a Fragile X conference in Cincinnati.  We spoke with Dr. Hagerman and she was delighted to learn of Drew’s FX diagnosis.  She said they didn’t have many infants who were diagnosed and asked if we’d participate in a research study.  We did and it was soon revealed that Drew was a mosaic of Fragile X Syndrome.  This meant that some of his cells only carried a premutation and in theory, would mean he was less affected than some kids with Fragile X. 

 

We enrolled Drew in early intervention services.  The people there were wonderful.  It was completely overwhelming to take him twice a week for early intervention, or Wee School, as it was called.  I remember telling the intervention specialist that Drew being a mosaic of Fragile X would hopefully mean he wouldn’t ever be classified as mentally retarded.  She smiled at me and said, “That is great.  I hope you are right.”  As it turns out, I wasn’t right.  Drew is pretty significantly impaired by Fragile X.  But I think I needed to hang onto the idea that he might not be too affected to deal with it at the time. 



Kristie and Blake

Almost three years later, we had Blake.  He was not planned by us.  He was, however, planned by God.  We thought we would be doing Drew a favor by not having any more children.  We wanted to focus our attention on him and give him everything he needed.  But God knew Drew needed a playmate--someone who was more outgoing than him and would draw him into new experiences.  Blake also has Fragile X Syndrome.  We received his diagnosis when he was about six months old.  We were participating in a research study with Drew at the time and when Blake was born, we had him tested as part of the study.  We weren’t too surprised with the results and enrolled him in early intervention services right away. 

 

Now, it is twelve and a half years later and we are doing very well.  I am not going to say that it has been easy.  It has not.  But it has been an experience that has bonded us together and has built our faith in God.  Eric and I know we would not be where we are today without the Lord’s help.  We are teaching our boys to love Him, too. 

 

A Fragile X diagnosis caused us to change our dreams and expectations.  There are still tears sometimes, but what we have is a rich life full of love and laughter. 

 

Fragile X Writer's Series: Brittany's Journey

Brittany Marshall, today's guest Fragile X Writer, is leader of the Fragile X Families of the Appalachians located in Tennessee, a blogger at  X Marks the Spot, and first and foremost, a mom - to a sweet little boy with Fragile X Syndrome named Dalton, and his sister, Payson.  Brittany's not long into her journey, and yet has accomplished much in such a short time.  Not really one for public speaking or writing, the Fragile X diagnosis has inspired her to reach out to both give and get support.  She is so relatable - you'll find yourself nodding along to what she has to say.

Right before Dalton turned two years old, I started questioning his pediatrician about why he wasn't talking more, of course the answer I got was "He is a boy, and boys are always slower."  I heard this A LOT.

Dalton sat up, crawled, and walked at the right times.  He even said "bye bye" and "da-da" at the appropriate age.  But then the language never moved beyond that.  So, at two, when his pediatrician didn't want to act, we changed doctors.
 

Dalton had had numerous ear infections up to this point.  His new pediatrician referred us to an ENT and early intervention services.  He got tubes shortly thereafter which pretty much eliminated the ear infections . But it took a few months for the speech therapy to begin.  Once it did and we started teaching him sign language, he caught on and progressed pretty quickly.
 

At that time Dalton didn't have any other behaviors that we could pinpoint to make us believe something besides Apraxia of Speech was going on.  But, when he quit receiving services his progress stalled, and we started to notice other behaviors (little eye contact, hyperness, and his fine motor skills were slightly behind) developing; or maybe they just got worse, or maybe I was just ready to admit them.  So we waited about six months after he aged out of early intervention services before we entered the school system.
 

Dalton and Payson

When we started with the school system they did all their initial testing and they diagnosed him with autism and being about two to two and a half years behind in pretty much everything.  I remember sitting in a room with 4 or 5 school representatives listening to their words, holding back tears and just praying they would end the meeting quickly before I lost it.  As much as I had wanted to believe that Dalton was just a little behind, in my heart I knew there was more.  I had been questioning doctors for two years without any answers.  I guess it was hearing someone else say what I had feared.  But, at the same time Dalton didn't fit all the categories for autism and these women had only spent a few hours with him.  So needless to say, even though I was heartbroken, I wasn't completely convinced they were right.  Dalton was so loving and interactive with our family.  He desired the interactions, more importantly.

 By this point we were on our 4th pediatrician and before we had even finished the school's evaluating process I had told him I wanted Dalton to be evaluated somewhere else.  We were sent to Cincinnati Children's Hospital.  It took several months before we were able to get an appointment.  Our first appointment was in January 2012 where we were told that they would be doing the ADOS again to test for autism and that they also wanted to do some genetic testing.  On January 19th, one day before my husband and my five-year-anniversary and one month before Dalton's 4th birthday, we received our Fragile X diagnosis.
 

And a new journey began.  Getting our diagnosis was just the first step to get us on the right road with at least some idea of what was going on.
 

In July we attended the International Fragile X Conference in Miami.  It was wonderful to meet other families who had been there, done that, or were currently going through it.  The conference gave us resources and a hope that we weren't sure of before.

In October we started the Fragile X Families of the Appalachians, our LINKS group.  I wanted so badly local families to have somewhere to turn to.

I am sure our journey will be long and full of obstacles.  However, God put this in our lives for a reason.  Dalton's diagnosis may have shut doors I was positive we would travel through, but it has opened many other ones I wouldn't have dared to even peek in before.

 

It is God that girdeth me with strength, and maketh my way perfect. Psalms 18:32 KJV

 



My Favorite Alternative to Holland - Amsterdam International

I've mentioned a couple of times how I feel about Welcome to Holland.  I mentioned that I hated it, and I wrote a sort of addendum to it about having to live in Holland and Italy at the same time.  Then a few months later, I read another terrific alternative Holland story.

A couple of months ago I stumbled across this blog called "Uncommon Sense", about an absolutely adorable little two-year-old girl with lots of developmental delays.  No diagnosis.  Of course I stared at pictures and video of her intently, trying to decide if Fragile X was a possibility.  Not that you can always tell by looking.  But sometimes there are similar facial characteristics in children with Fragile X, and sometimes you can tell in the mannerisms.  So I watched the videos of her with particular interest.

I've read most of her blog, looking to see if they've tested her for Fragile X Syndrome, and I don't see that they've done that particular test.  They did have a microarray test done, which looks for chromosome section deletions or duplications.  Fragile X is caused by a repetition of part of a chromosome, so I would imagine that a microarray test would have shown that, but I don't know for sure.  At any rate, in the videos and pictures of the little girl I don't see anything that jumps out at me as being FragileX-y.  But I'll be the first to admit I could be wrong.

Then I found this awesome story she wrote -- her version of Welcome to Holland.  Which I think is SO fantastic.

I would have found it so much more comforting than Welcome to Holland when my boys were first diagnosed, four and a half years ago. One of the therapists from the school brought me a bunch of autism information, along with a sheet with Welcome to Holland printed on it......and I hated it.  Just being honest. I was not in Holland, not by a longshot.

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

This is Dana Neider's "Amsterdam International."

Amsterdam International

Parents of “normal” kids who are friends with parents of kids with special needs often say things like “Wow! How do you do it? I wouldn’t be able to handle everything---you guys are amazing!” (Well, thank you very much.) But there’s no special manual, no magical positive attitude serum, no guide to embodying strength and serenity . . . people just do what they have to do. You rise to the occasion, and embrace your sense of humor (or grow a new one). You come to love your life, and it’s hard to imagine it a different way (although when you try, it may sting a little). But things weren’t always like this . . . at first, you ricocheted around the stages of grief, and it was hard to see the sun through the clouds. And forget the damn tulips or windmills. In the beginning you’re stuck in Amsterdam International Airport. And no one ever talks about how much it sucks.

You briskly walk off of the plane into the airport thinking “There-must-be-a-way-to-fix-this-please-please-don’t-make-me-have-to-stay-here-THIS-ISN’T-WHAT-I-WANTED-please-just-take-it-back”. The airport is covered with signs in Dutch that don’t help, and several well-meaning airport professionals try to calm you into realizing that you are here (oh, and since they’re shutting down the airport today, you can never leave. Never never. This is your new reality.). Their tone and smiles are reassuring, and for a moment you feel a little bit more calm . . . but the pit in your stomach doesn’t leave and a new wave of panic isn’t far off.

(Although you don’t know it yet, this will become a pattern. You will often come to a place of almost acceptance, only to quickly re-become devastated or infuriated about this goddamned unfair deviation to Holland. At first this will happen several times a day, but it will taper to several times a week, and then only occasionally.)

A flash of realization---your family and friends are waiting. Some in Italy, some back home . . . all wanting to hear about your arrival in Rome. Now what is there to say? And how do you say it? You settle on leaving an outgoing voicemail that says “We’ve arrived, the flight was fine, more news to come” because really, what else can you say? You’re not even sure what to tell yourself about Holland, let alone your loved ones.

(Although you don’t know it yet, this will become a pattern. How can you talk to people about Holland? If they sweetly offer reassurances, it’s hard to find comfort in them . . . they’ve never been to Holland, after all.

And their attempts at sympathy? While genuine, you don’t need their pity . . . their pity says “Wow, things must really suck for you” . . . and when you’re just trying to hold yourself together, that doesn’t help. When you hear someone else say that things are bad, it’s hard to maintain your denial, to keep up your everything-is-just-fine-thank-you-very-much outer shell. Pity hits too close to home, and you can’t admit to yourself how terrible it feels to be stuck in Holland, because then you will undoubtedly collapse into a pile of raw, wailing agony. So you have to deflect and hold yourself together . . . deflect and hold yourself together.)

You sneak sideways glances at your travel companion, who also was ready for Italy. You have no idea how (s)he’s handling this massive change in plans, and can’t bring yourself to ask. You think “Please, please don’t leave me here. Stay with me. We can find the right things to say to each other, I think. Maybe we can have a good life here.” But the terror of a mutual breakdown, of admitting that you’re deep in a pit of raw misery, of saying it out loud and thereby making it reality, is too strong. So you say nothing.

(Although you don’t know it yet, this may become a pattern. It will get easier with practice, but it will always be difficult to talk with your partner about your residency in Holland. Your emotions won’t often line up---you’ll be accepting things and trying to build a home just as he starts clamoring for appointments with more diplomats who may be able to “fix” it all. And then you’ll switch, you moving into anger and him into acceptance. You will be afraid of sharing your depression, because it might be contagious---how can you share all of the things you hate about Holland without worrying that you’re just showing your partner all of the reasons that he should sink into depression, too?)

And what you keep thinking but can’t bring yourself to say aloud is that you would give anything to go back in time a few months. You wish you never bought the tickets. It seems that no traveler is ever supposed to say “I wish I never even got on the plane. I just want to be back at home.” But it’s true, and it makes you feel terrible about yourself, which is just fantastic . . . a giant dose of guilt is just what a terrified lonely lost tourist needs.

Although you don’t know it yet, this is the part that will fade. After you’re ready, and get out of the airport, you will get to know Holland and you won’t regret the fact that you have traveled. Oh, you will long for Italy from time to time, and want to rage against the unfairness from time to time, but you will get past the little voice that once said “Take this back from me. I don’t want this trip at all.”

Each traveler has to find their own way out of the airport. Some people navigate through the corridors in a pretty direct path (the corridors can lead right in a row: Denial to Anger to Bargaining to Depression to Acceptance). More commonly, you shuffle and wind around . . . leaving the Depression hallway to find yourself somehow back in Anger again. You may be here for months.

But you will leave the airport. You will.

And as you learn more about Holland, and see how much it has to offer, you will grow to love it.

And it will change who you are, for the better.

© Dana Nieder 10/2010 All Rights Reserved