Friday, December 11, 2009

FX Diagnosis... A Life Changing Experience... Compared to What???

(Sorry, this is a long one! )

Since I started this writing endeavor, I have been asked many times to explain Fragile X Syndrome. I have to confess, I don't really want to and I am not really sure I can. It's a pretty complicated and ugly mess! In our family, it's sort of a two parter, the FXS facts, and the Life of the FXS diagnosis... Two related yet unrelated things...

I confess, the life of the diagnosis is easier write about, but harder to live with. The medical research on Fragile X Syndrome is changing so fast, I can hardly keep up with it. Because of those two things, I will spend more time on what led to our diagnosis than the medical aspects. I'll send you to the right place for accurate info on that! However, here goes my attempt at providing some real insight into the world of Fragile X Syndrome! Remember now, Alex is 13 years old. He was diagnosed when he was about 16 months old. That's a long time ago in the medical world, and even longer in the world of 40 something Alex's mom! And lastly, feel free to laugh, we did! ... and still have to sometimes!

Here's the FXS basics. Fragile X Syndrome is the most common cause of inherited mental impairment. My family refers to it as "autism with attitude"! It can affect people in a number of ways. Some very general basic systoms of FXS are autistic like characteristics, mild mental impairment or severe mental retardation. It can cause seizures in those affected, tremors in older male carriers and even infertility and premature menopause in women. It pretty well covers all the bases as far as symptoms go. It is caused by a defect on a particular gene, the FMR1 gene, on the X chromosome. The only way to diagnosis it is through a DNA test.

I am by no means an expert on the subject. A long time ago I sort of committed myself to the "need to know basis only" crowd. I don't know if it was the right way, but we've got a good doctor, and I do research as I need to, so it works for me. Sometimes, I think there is such a thing as knowing too much! Anyhow, it is for that reason, I give you this link, . This is the encyclopedia for people affected by Fragile X Sydrome, and through this website, you will find the FXS Gods!

Anyhow, this is how we began our journey............

When Alex was diagnosed, FXS was relatively unknown, so there was very little research and information available compared to what is out there today. That is also why I am hesitant to write about it, what we were told, and thought we knew back then, has already changed.

I am a carrier of Fragile X Syndrome, we don't know yet if I passed it on to Twin Sis and Big Sis, but we do know I gave it to Alex. Through all the genetic testing, we found out that my mom is also a carrier, my sis is too, but it missed my brother. A female carrier has a 50-50 chance of passing it on to each of her children. We had never seen any signs of FXS in my family until Alex. Not even in Big Sis, who was six years old when Alex was born.

If hindsight were 20/20, Alex would have been diagnosed even earlier, but he wasn't . . . but, so what, right? ? When Alex was very young , he was always behind Twin Sis in motor development and cognitive development, we just didn't really know it. Twins and boys develop slower, and doctors are quick to tell you so.

For instance, Alex used to projectile vomit. I know a lot of infants do it, and with twins, there was just baby puke everywhere, but Alex could launch it halfway across the room. Every time! Now again, a lot of kids do it, but in our BIG picture, and hindsight, this should have been a sign.

We also have videos of Twin Sis and Alex doing what we called the "Racing Horses." Alex and Twin Sis would get side by side, up on their hands and knees, they would rock from front to back as fast as they could. At the time, we would all laugh, they really did look like horses ready to break out of the starting gate! Now, again, hindsight... another sign! Both of these are pretty significant signs of sensory concerns that we probably should have caught on to. You know, we still laugh at the videos, what else can we do? We are now conniseurs on sensory integration techniques and theories.

Twin Sis started motoring around much earlier than Alex, too. This really put Alex at a disadvantage. Twin Sis has never been mean to Alex, but back then, what she wanted...she got!She and Big Sis have sort of taken to looking out for Alex now, but back then, it leaned more towards taking advantage of Alex. That's what sisters are for, though, I know.

Twin Sis also started grunting, cooing, uttering, talking, all of those things, well before Alex. This made things a bit difficult for everyone at times. I also think we overcompensated quite often for Alex's lack of abilities. Hindsight, again... that probably didn't really help him much. But it did make things easier for us at the time! We had twins, the easy way had to be considered!

We did ask the doctor a few times about these delays. We never really pushed too much, though. He was right, boys do develop slower. Alex was a twin, and they do generally develop slower, too.

I'll never forget the day we decided it was time to PUSH the doctors. I told you about some of the obvious concerns, but we also had this issue that wasn't really a developmental concern, we just didn't know what it was. I know now why it happened, but back then, we hadn't a clue! And I am still not sure why, but we kept it a secret.

For some reason, Alex would just reach out and smack me! It would happen at random moments throughout our day, lunchtime, nap time, story time... there was no rhyme or reason to it. No one else, except Twin Sis, ever saw it. At the time, it was just the strangest thing...He never smacked at anyone, not Twin Sis, not Big Sis, not Dad, just me... it was so quick I couldn't get out of the way.

A behavior therapist later helped me understand that since Alex couldn't communicate and couldn't completely express emotions, this was his way of doing so. She also explained that he couldn't process his feelings at the appropriate times, either. Sometimes he'd show his frustration late in the afternoon over something that happened at breakfast, but remember, he couldn't communicate this, so I'd get, what seemed to me, random whackings.

The therapist explained how difficult it was for Alex to emotionally bond with people. I was the one person he felt he could he could express himself to, so I was the one getting whacked. I have always felt honored, but on one particular day, I was honored a bit too much! It was the next day that we roared into the doctors office and kept roaring! Dang hindsight! I should have seen these emotional issues and communication issues, even through that swollen eye!

Fortunately our fantastic pediatrician saw us right away, then got us in to a developmental pediatrician(DP) promptly. The DP saw up pretty quick, too. She ran a few tests. I have to tell you, I didn't much care for her.

Her answers were that Alex must have suffered a traumatic head injury. I was a stay at home mom. I had twins, TWINS, I didn't have time to let one of them hit their head! And if they had, I definitely would have known about it! When I finally got her off that one, DP's next explanation was that it was a traumatic birth. I had my twins on their due date, and, ummmm....I was there! Alex weighed 8lbs4oz, c-section, an audience of 27, trust me! NO TRAUMA!!! The only trauma was that doctor's visit!

Oh, I forgot to tell you that DP also told us that Alex's face and ears were misshaped. Really? Thanks so much! ... That really ticked me off! Alex's face and ears were shaped just like his dad's, grandpa's, uncle's... you can't tell which kid belongs to who in that family if you just looked at pictures. OK, DP, move it along!!!! (For the record, the shape of Alex face and ears is a symptom of FX, but I stand by the fact that it is genetics from his Dad's side of the family!)

She did acknowledge that Alex's development was behind so she finally sent us to a neurologist. Basically, he gave us the same routine as DP, we presented same responses, "You are wrong!" OK then, let's just take blood and do a DNA test. Well, I guess that's more than we've got so far, right?

We finally got called into the neurologist office to get the results. Another one of those moments we'll never forget! "Alex has tested positive for Fragile X Syndrome." Dad and I asked what that was and what it meant. To this day, I can't believe what that doctor said. "Don't worry. It's not anything serious. I'll schedule you an appointment with a geneticist." I guess that's code for I don't know what Fragile X Syndrome is, or maybe I don't care. Either way, can you tell I still hold a grudge????????

Dad and I went home and got on line. Let's see, 1997, probably the first time we ever googled anything! The first line of information on Fragile X Syndrome said it was the most common inherited cause of mental retardation. Ummm.... "nothing serious"... the appointment with the geneticist was months away. What are we going to do?

Fortunately, our regular pediatrician took our call immediately. He went straight to the University Medical Center's Library and called us right away. He also had the geneticist call us right away. We saw the geneticist(DocM) within the next few days, and have been seeing her regularly ever since. Another of our favorite places

At the time, things seemed a whirlwind. DocM had us set up with therapists that I didn't know existed. A caseworker from the State had to do an evaluation on Alex. I remember it was very long and terribly depressing. It seemed like Alex couldn't do anything. I remember crying. The caseworker, told me something that to this day is so relevant, for every child! "I know this seems bad. I know it looks to you like he isn't accomplishing anything. But remember, if he scores low, he will get more one on one attention. One on one attention is good, no matter how we get him there!" Hmm... she's right, good for all kids!

Well, needless to say, all that therapy has paid off. Alex is not the perfect thirteen year old. to the rest of the world, Thank Goodness! But what in the world would we do with a "perfect" kid. Somehow, though, he turned out to be the perfect thirteen year old kid for us! The cherry on top, is that he has made stride that were never truly expected of him either! Again, . . HOW LUCKY ARE WE ????

We had to qualify for these services through the MO Department of something, something... Developmental Disability and Mental Retardation. We qualified and I got notified in the mail. That was the ugliest envelope I have ever seen! I had to call my neighbor to come open it. Thank God she did. She opened it that day, and has been stuck with me ever since.

Not too long after the arrival of that envelope, we had people coming and going from our house all the time. There was the usual therapists, speech, occupational, physical... we also had behavioral therapists, special ed teachers, sensory integration specialists. Some of them came twice a week, some of them we'd visit at the office. Most of the time I didn't know who was coming or who we were seeing, I just knew where we were supposed to be and when. At least I had that part straight! And that is a huge accomplishment for me!!!

I had no idea at the time, that that was just the beginning. The therapists still come, just not as many. Those ugly envelopes still come, just from different places. The evaluations are still there. We still cry. We still have to argue with "experts". There are still days when something happens and we wonder if something he did as an infant or even yesterday should have been a sign...

But... Hindsight, Schmindsight.... we had no idea then and probably wouldn't now if it happened again! As a matter of fact, I know that as soon as we cleaned up the disgusting puke, we'd probably measure it for distance! And as the kids started revving up in the gates, we'd still be giving the play by play for the race and laughing all the way! We still laugh at things we probably shouldn't, we still cry at things we can't control. What matters is we're doing what we can now! And... if we're doing it wrong, we'll do it right tomorrow! Sometimes, we laugh at how bad we screwed up, and start all over. Oh well... It's definitely keeping us occupied!

I have always said that God chose us to be Alex's parents and family. He knew we were the best choice and could take care of Alex. I am pretty sure though, that we surprised Him along the way with some of our choices. I know that on more than one occasion, He said to Himself, "Wow, I didn't see that one coming!", or "What the heck were they thinking?" But I am also 100 percent certain that we have provided Him with an awful lot of laughter along the way. What an honor! I know He laughs for awhile, then gives us the strength to get over that next hurdle.

TO BE CONTINUED - Now, that is a funny line !


onmymission said...

This was an absolute pleasure to read ! OH, how I completely connect with the stuff you wrote about "in hindsight".....and I learned something new....projectile vomiting is a sign of FXS? wow! I didn't know that, but my oldest girl was very talented with that ! My Aunt travelled all the way across the country to meet her new great-niece just to have her vomit all over her from across the table....yep, perfect aim ! I was a little bit luckier than you were with the diagnosis in that our pediatrician said FXS the minute he saw it turns out, both of his sons have FXS and he recognized it right away ! But I was stunned because I thought I was there simply to get a referral to have my son's hearing still as blindsided as you were. I also believe I was chosen to be their Mom. or rather, that my children were chosen to be my teachers. It is a real pleasure to get to know you through this blog !

Heather said...

You know what, he sounds like a beautiful wonderful kid! No kid is perfect, no parent is perfect, but the pairings of the too are perfect. It sounds like Alex definitely has the perfect parents for him!

My son doesn't have Fragile X, but just in relation to ADHD, Jordan has been frustrated, trying, drove me to tears, but he is the most wonderful boy and I love him to death and he's mine. I'm sure he'd be happy to tell you any of my quirks that make me far from perfect too. LOL

Thanks for giving us a peak into your family!!!

Umma said...

"Nothing serious"...just life altering! Dr's these days don't seem to handle it much better! Our pediatrician was out of the office when the results came in and the fill in physician told us to search on the internet for information (!!!) and that our regular pediatrician might want to see us when she returned.

We laugh about some of the things Monkey does even knowing they're FX related. Some of the mannerisms are just cute! You have to take the fun where you can find it :-)

Helen McGinn said...

That was amazing to read. I sometimes wonder what happens to those kids whose parents aren't sure how to push or just accept the first diagnosis given. Sigh.

My friend was told about fragile x over the phone and when she asked for more information, she was told to "look it up on the internet"; just like Umma above.

I love reading your blog and admire your honesty and tenacity.