Worried

As a special needs parent, there are good days and bad days. (Well, I suppose that's true of any parent--but I've only ever been a SN parent, so I have no basis for comparison). Everyone knows this. There are days you want to shout from the rooftops about the progress your child is making. And there are days when it takes every fiber of your being to just get through the day because you feel scared, overwhelmed, guilty. Today was the latter.

Prior to Gabriel getting a diagnosis of FXS, occasionally someone would mention autism because of his speech delay. This was always immediately shot down by me. I would hear none of it--I know my child better than anyone else in this world (except maybe Jake) and I knew Gabriel did not have autism. Even when he wasn't speaking at all, he was very social--had no stranger anxiety, would laugh and smile at anyone, made eye contact, etc. Not only did I truly believe Gabe did not fit the clinical criteria for autism, I also refused to label my child with what I believed to be an incredibly overused, cop-out diagnosis. I thought (and still kind of think...I'm on the fence at the moment) that the autism diagnosis is today, what the ADHD diagnosis was in the '90s. (Begin sarcasm) Your child doesn't fit the definition of perfect? Ok, here's a label! Instead of having your little boy go run around the backyard for an hour to burn energy, pop a Ritalin! (End sarcasm) I know that isn't a popular opinion in the SN community, but it is what it is. (And for the record, I do understand that some children truly have ADHD, just as some children truly have autism. I just think both are over diagnosed).

Anyway, I had to give some background on my feelings about autism in general, because even I can't believe what I'm thinking...I think Gabe could be autistic. About a third of children with FX meet the clinical criteria for autism. That means two thirds don't. Those are decent odds. I wouldn't play a $100,000 minimum bet blackjack table in Vegas with those odds, but I'd play a $5 table.

Here's why I'm thinking what I'm thinking:

1. Over the last several months, Gabe is becoming more and more socially withdrawn. He used to love to go to the grocery store, sit in the cart, and smile and say hi to everyone voluntarily as we walked down the aisles. Jake and I carry him 90% of the time now, because not only will he not even respond when someone says hello, he seems to be incredibly overwhelmed at being around all those people. He wants to be held so he has our arms around him for safety, and he can bury his head in our neck and block out all the people. We oblige more often than not. I have no idea if that's right or wrong, but it's what works for us. (This is where him being the weight of the average 12 month old comes in handy. See, there's a plus to everything). God forbid a clerk tries to engage him in conversation. At best, he will just ignore them. At worst, he will shriek and try to bury his head further into my neck.
2. Though Gabe got off to a very slow start with his language skills and began speech therapy at 15 months, he began closing the gap. A month ago, I would guess he was at age level for speech, or close to it. Speech went from being my biggest concern to my least concern, with Gabriel's overall development. He may have been a little behind still, but he was making progress. Here's what gets me worried now: I think he's regressing. I've been noticing some regression over the last week or two, but didn't say anything to Jake because I thought it might be in my head and didn't want to plant the seed in his head. Well, today Jake said something to me about it. That he had noticed it too. Gabe still has a decent sized vocabulary, and will put together some short sentences (typical 2 year old development), but it's becoming muddier. Where a week ago, Jake and I could understand 95% of what Gabe was trying to say, today we could only understand about 50%. The other half was so poorly enunciated that even us, Gabe's parents, couldn't make it out. Sometimes, if we asked him to repeat himself 2 or 10 times, we figured it out. Sometimes we didn't ever figure it out. He's also not using his words in situations where he used to use them. Example conversation from two weeks ago--Us: Gabe are you hungry for dinner? Gabe: Gabe hungry! Us: Do you want a grilled cheese, or chicken nuggets? Gabe: Nuggets and ranch! Example conversation from today: Us: Gabe are you hungry for dinner? Gabe: AH! Us: Are you hungry? Yes or no. Use your words, please. Gabe: yeah Us: Do you want a grilled cheese or chicken nuggets? Gabe: AAAHHHH!!!!
3. Gabe likes to ignore us now. We can try to get his attention over and over again, and it's like talking to a brick wall. I know his hearing is fine. He just doesn't feel like responding. Again, not always. But it's happening more frequently than it used to. 
4. Gabe has some sensory issues. These are no better or worse than they've ever been. He's sensitive to food textures and loud noises mainly.

Now, I can tell myself that the first point is Gabe just being a typical 2 year old. Some have stranger anxiety or are shy. Certainly not unheard of, in toddler land. I can even tell myself that the second point is just Gabe being a typical toddler--maybe he's trying to talk too fast to enunciate clearly and trying to see what he can get away with, if he doesn't talk to us. The third point could also be easily explained, I'm sure. The fourth point is typical of FXS kids. But when you combine all 4 together--my mind does wander down the autism road.

It's hard for Jake and I to figure out what's going on sometimes. What is typical 2 year old behavior? What is typical for FX? And what is abnormal for NT kids and FX kids? I suppose at some point in the near future, I'll mention my concerns to one of his doctors. Probably neuro. And I also suppose someday soon, I'll ask his therapists what they think.

I haven't done it yet. I'm scared to hear the answer.

And another one bites the dust...

I'm fed up, grouchy and frustrated right now. As a Mother of a child with multiple "concerns" I have yet to find something more frustrating than the food battles. I understand a lot of toddlers are picky eaters and it comes with the territory. However, Gabe just doesn't eat. Period. And tonight's dinner just made everything worse: not only did a staple of Gabe's diet bite the dust (rice with butter, olive oil and cheese for calories), but Gabe had one of the worst meltdowns he's had in a LONG time.

Here's how our evening went:
Gabe: I HUNGRY! Mama cook rice?
Me: I can definitely cook rice. Let me start it for you.
*waits 40 minutes for rice to cook.*
*spends 3 minutes topping the rice with calories*
Me: Here you go, Gabriel!
*Gabriel takes one bite*
Gabe: All done rice!
Me: I don't think so, you can sit in your chair until I'm done eating then.
Gabe: All done rice! I go play!
Me: Nope--we're eating dinner. You need to sit until I'm done even if you don't want to eat.
*Gabe (very MAD) shoves a huge handful (yeah, he eats with his hands more often than not) of rice into his mouth. All is well for approximately 4 seconds. Then he starts choking. Not choking choking, like I need to do the Heimlich or anything. Just coughing and gagging. He breaks down into giant alligator tears, which only makes the coughing worse.
Gabe: (Still crying, screaming and coughing at the same time) All done RICE!!!!
*Gabe is bright red, obviously very scared, and screaming his head off about no more rice. I hug him to try to calm him down (and get the rice/butter/olive oil/cheese mixture all over my shirt in the process)*
Me: Ok, you can get down (yeah, I gave in. Well kind of--I mean the kid did just nearly choke!)
*Gabe gets down and continues his meltdown--screaming, shrieking, tears, the whole nine yards*
*I eat my dinner and ignore him*
Gabe: (a little calmer) I HUNGRY!
Me: Ok, let's get back in your chair and finish eating
*Gabe freaks out again--I turn away from him and keep eating*
*Gabe calms down*
Me: Do you want a cookie? (And yes, I KNOW what you're thinking...What kind of good parent offers a child a cookie after a tantrum when they didn't eat any dinner? A parent who will do literally anything in the world to get their child to eat a few calories throughout the day. A parent who dreads meal time like it's the freaking plague, because she's SO tired of this battle).
Gabe: Cookie!
Me: Ok, well then get in your chair
*Gabe melts down again*
Gabe: No chair! Bad chair!
*Thinking to myself, "Great--now he's scared of his high chair because of the "choking" incident, and mealtimes are going to be that much worse."*
Me: If you want a cookie, you need to sit in your chair
Gabe: No cookie!
*Gabe screams some more*

After 30 minutes of on again/off again (but mostly on again--aside from a break to take a breath) screaming, shrieking, and flailing about, Gabe drinks a sippy of Pediasure and goes to bed. He never did eat the cookie. And honestly, I knew he wouldn't--another reason I wasn't so concerned about offering it to him in the first place.

And yes, I know Pediasure supplies him with calories (240 per bottle, to be exact) and I should be grateful for that. But when it's 85% of his caloric intake for the day (as of his nutritionist/feeding therapist's last estimate) it makes me hate it for 3 reasons:
1. It smells awful
2. It's expensive: $2 a bottle, times 3-4 bottles a day= $56 a week on a "supplement" that our health insurance won't cover, despite a doctor's prescription for it. But that's another rant.

And 3rd, and most important: It makes me feel like a failure as a Mother. I think a Mother's job is to provide 4 things: Food, Shelter, Clothes, and Love. (Of course as all parents know, there is way more to it than that, but when you break it down--A child can survive with those 4 things). I can't feed my child. And it kills me. It absolutely breaks my heart. You better believe that after Gabe's major dinner meltdown, I had a little mini-meltdown too. What kind of mother can't get their child to eat? And I'm not making him eat vegetables. I'm talking grilled cheese, chicken nuggets, mac and cheese. You know, kid food. Well kid food drowning in cholesterol and fat--we're supposed to load up all of Gabe's meals with condiments (I use that word loosely). You want to dip your mac and cheese that was already made with extra butter, in ranch dressing? Go ahead! It's good for you! I gave up on veggies a long time ago. Hell, Jake and I actually fed him a candy bar for lunch one day. He took one bite, spit it out and was done.

Now, I'm not nearly self-centered enough to think that Gabriel's feeding issues revolve completely around me. I understand the medical complexities behind it: hyper-sensitivity to textures coupled with weak muscles (including mouth and throat muscles), a.k.a hypotonia. Possible reflux--we're still working on diagnosing that one. But all the medical explanations in the world, doesn't really make the fact that I can't feed my child easier. Especially when he's so underweight to begin with (I believe a doctor at some point actually called him "malnourished."--talk about a kick to the gut). Pediasure is barely keeping him afloat.

Gabriel's nutritionist/feeding therapist told me that I need to separate myself from the food battle. That it is my job as a parent to provide a meal for Gabriel to partake in. After that, I'm done. If he doesn't eat it, don't worry about it. Yeah, obviously I'm still working on that one.

Running

As part of our "get in shape and do a 5k" plan, Jake and I have been taking Gabe on 3 mile walks every day for the last few weeks. We always start out with him walking, and then put him in his stroller when he gets tired. Normally, this is after a block. Two, tops.

Yesterday, he walked .91 miles on his own! I couldn't believe it! (And I know the exact mileage because I track our walks on my phone). That would have been exciting enough for me, but there's more! Several different times (maybe 4 or 5) he actually tried to run! He could only go for about 5 seconds before he lost his balance, and it was very awkward looking, but it's a start! Go, Gabriel! You rock!

I admire my son tremendously--he works way harder than most toddlers to accomplish the same tasks (and often times needs therapy to learn), but he accomplishes them. I read an article from an FX parent on Facebook the other day about a child with FXS going to college. That could be Gabriel. That inspires me so much to continue working with him--I truly believe he can do so much. Will he require assistance to get there? Probably. Will he have to work harder than his peers to accomplish the same thing? Yes. But he's determined; and we are determined to help him achieve. Whatever those achievements may be. I know the bumps in the road aren't over, but today I'm excited for him--to see what his future holds.

To Social orNot to Social

I've been staring at the Social Security/Disability web page for an hour now...

Could we use the extra help that Disability Medicaid would provide us? Of course. Though we hold private health insurance, the co pays on Gabe's testing and services add up. $25 a time, times 20 times a month. Yes, we CAN pay out of pocket, but will we be ultimately be denying our son services? When his OT or PT or ST suggests a service, will we have to say no, because of monetary constraints? I hope not.

It's hard for me to answer the form: First and last name: done. No problem. Child's disability? HUGE problem!!! MY child is NOT disabled!!!! He is exceptional, in everything he does! He talks better than some NT 2 year olds, and he is so funny and smart.You are NOT suggesting I label my child as disabled just so they can receive government services??? I think I will hold off on filling out the SSI/Disability form for one more day.

The Great Imitation

Jake and Gabe play this game that I would imagine lots of fathers play with their 2-year-olds. Basically it consists of Jake chasing Gabe around, catching him, and blowing a raspberry on his belly. Gabe loves it, and thinks it's hilarious.

Today, I went to get Gabe up from his afternoon nap. Gabe sees me come in the room, and then looks at his Elmo laying in the crib. Without hesitation, he smooshes his face onto Elmo's tummy and tries to make a raspberry. Gabe looks up at me, grins ear to ear and announces, "I like Daddy!"

I laughed harder than I have in a long time, and I was also SO proud! Pretend play and imitation are skills that many children will pick up prior to 18 months. This was the first time I had really seen Gabriel try to imitate so blatantly. WooHoo!

A little bit of everything

It's been awhile since I've posted, and A LOT has happened in the last few weeks!

First, I lost my job. Though devastated at first, I've already come to view this as a blessing. I've had the opportunity to spend all day, every day with my son. I'm actively seeking employment, and have had several interviews already so I know my time as a Stay At Home Mom will be short lived. I am cherishing every moment. I'm also viewing it as an opportunity to do something I really want to do--get into the medical field. Doing what exactly--I'm not sure. But I'm thinking about my options and discussing with Jake what I should do. We'll see what the future holds.

Our little family went back to Missoula last week. One of my best friends was getting married and I was her Maid of Honor (well, I guess Matron of Honor...but that makes me sound really old). I had a blast hanging out with the girls and doing wedding duties. It was also wonderful for Gabe to spend time with Jake's parents and brother. We hadn't seen them since August 2011, when we came back to Denver. Gabe was hesitant at first, but warmed up quickly. And of course it's always wonderful to see my parents and brother too. :-)

Jake and I are always amazed at how well Gabe does in the car. The trip to Missoula is 15 hours each way, and Gabe never fussed or whined. Not once. He just talks to us the whole time, and maybe sneaks in a quick nap or two. We've done this trip several times since Gabe was born, and he always does well so I'm not sure why Jake and I dread it so much. He has yet to make us misserable in the car.

On another Gabriel front, we're increasing OT to once a week. His OT thinks that Gabe's eating habits (or lack thereof) are due to sensory issues. So we are going to meet more frequently and work on sensory integration. I'm up for it--I'm pretty much up for anything when it comes to Gabriel's therapies. If it helps him in the long run, great. If not, at least we tried.

Oh, and I am getting my butt in gear and focusing on my weight and health. I've been doing a half-assed job of Weight Watchers for about 9 months now. I've lost 20 pounds in the last 9 months--not exactly a huge accomplishment. But I am TOTALLY focused on it right now, and my goal is to lose an additional 40 (so a 60 pound total loss) by the end of Summer. Jake and I are also going to sign up for a 5K towards the end of Summer as well. Our goal for Spring 2013 is to do a marathon, but that's a long ways away right now. Wish us luck!

The Beginning

We're adjusting to our new normal now. It's been 12 days since Gabe was diagnosed with Fragile X Syndrome. I have cried all the tears I have available at the moment, though I suspect there will be more to come throughout our journey.

Gabriel was born on March 19, 2010 at 10:35AM. Jake and I were so excited to have him join us, and we thought he was perfect. When Gabe was a few hours old, I noticed his eyes were jittering back and forth and my Mommy Gut told me something wasn't right. I asked two different nurses, and they both assured me that newborn eyes are just funny sometimes and it was nothing to worry about. We spent the next 8 weeks in a sleep deprived bliss. We were so in love with our new baby. Exhausted and overwhelmed, sure. But in love nonetheless.

At Gabe's 8 week well baby check-up, his pediatrician noticed the eye jittering that Jake and I had noticed 2 months earlier and diagnosed him with nystagmus. She told us that Gabriel might be blind and referred us to a pediatric opthamologist. That was the first time I cried because I was scared for my baby's future. There would be many more days like that to come. We saw the opthamologist two weeks later, and to date those were the longest two weeks of our lives. The doctor let us know that Gabe wasn't blind, but that nystagmus is usually caused by something in the brain, rather than the eyes. He wanted to see us back in 2 months and Jake and I quickly moved on. Always keeping his eye condition in the back of our minds, but moving on anyway. At the advice of his pediatrician and opthamologist, he had a brain MRI done under anesthesia at 9 months old, to make sure there was nothing out of the ordinary (like a tumor) causing the nystagmus.
Gabriel met his early physical milestones relatively on time. He rolled over and sat unsupported well within regular timeframes, if not early. He crawled at 8 months, and walked at 15 months. Not super early, but not "late" either. At this point in Gabe's development, I was still obsessed with baby books and websites, constantly comparing my child to all the other children. Despite the fact that I immersed myself in child development, I somehow overlooked the fact that Gabe's language skills were very much behind at this point. By 15 months old, a child should be babbling many different sounds. Both constanants and vowels. Most will also have 3 singular words, not including Mama and Dada. Gabe didn't babble at all. He had no words, and thinking back on it, he was always a very quiet baby. Unless he was upset about something, he was pretty much silent. There was never the coos and gurgles you hear about babies doing. Our pediatrician put us in contact with Early Intervention, and after an evaluation, Gabe started weekly speech therapy. Jake and I were constantly defending our choice to start him in ST. Coworkers and friends responded with, "you have your one year old in speech therapy??? One year olds don't talk!" I was blown away when the educators that were evaluating him also said Gabe had a fine motor delay and we should meet with an occupational therapist on a much less frequent basis, just to make sure he caught up. I really thought he was meeting all gross and fine motor skill milestones.

At this point (18 months old), I started pushing our pediatrician to send Gabriel to a pediatric neurologist. I knew there was more to Gabe's story. I felt very isolated, like I was the only one who could see what was happening to my baby. Gabe did see a neurologist and then a geneticist. They did several tests on him, including a full genetic microarray. Everything came back normal. We were told to come back when he was 2 and they would check to see where he was developmentally and what progress he had made.

A few months later, Gabe had the first of his terrifying seizures.  I know now that 25% of kids with Gabe's condition have seizures. But I'm getting ahead of myself there.
Well, the months went by. Speech therapy led to occupational therapy, which led to physical therapy. The gross motor skills that Gabriel had always done well with as an infant, he was now struggling with as a toddler. Yes, he could walk. But he made no attempt to run, jump, or reach on his tiptoes. When he received a PT evaluation finally, at 22 months old, he was almost a year behind in his gross motor skills. And because we didn't have enough going on, therapy-wise, EI threw in feeding therapy as well. Gabe has always been very underweight  (below the 0% on the weight charts). He's a picky eater to an extreme that is beyond frustrating. He receives most all of his calories from Pediasure.

At this point, shortly before Gabe's second birthday, Jake and I were adjusting to 4x weekly therapy and quit pushing for a diagnosis. Gabe didn't need a diagnosis--he would do things in his own time and eventually catch up with his peers. No big deal.
I need to sidetrack from Gabriel for just a second. At this point, a diagnosis for Gabriel was the last thing on my mind and instead I was focused on my own health. Long story short, my OB/GYN let me know that she thought I was going through menopause. I am 26 years old. Then she asked me the question that would ultimately change our lives. "Does your son have any developmental delays?" When I explained everything we had been going through with Gabe, she asked if he had been tested for Fragile X Syndrome. I remembered finding FXS on Google, six months prior when I was in my I-Need-To-Find-Out-What's-Going-On phase. I pieced it together in my head instantly: The early-onset menopause of carrier women, Gabe's ongoing delays, it all made sense. My heart sank, and I knew immediately that we had a diagnosis for our son.

I called Gabe's pediatrician and asked her to read me the results of his FXS test. (I thought this had been done already, when we saw genetics months earlier). His doctor said that she didn't see where Gabe had ever been tested for Fragile X. Gabriel, Jake and I were all tested. Gabe's results came back as him having the full mutation of FX and I'm the carrier with a premutation.

I spent the next several days in a haze. I grieved for Gabe's future, and also for me and Jake's future. What was going to happen? Would Gabriel ever live independently? Drive a car? Get married? Will the other kids in school make fun of him because of his differences? As for having more kids, I wrote that off instantly. Jake and I agreed long ago that if Gabe's delays were because of a genetic condition, we wouldn't have more biological children. There may come a day down the road (a LONG way down the road) where we would consider adoption. But not anytime soon.

Gabriel's diagnosis is still very new and I know there will be plenty of ups and downs along the road. But as of today, I'm content. My son is making progress with his therapies. Everyone who meets him falls instantly in love with him. He's sweet, cute, absolutely hilarious, and incredibly loving. Basically, he's still the perfect baby we thought he was as a newborn. Jake and I are incredibly blessed to have been chosen to raise this child. Just hours after Gabe was diagnosed, I was on the phone with my Dad. He said something I don't think I will ever forget: "Gabe is going to teach all of us so much more about life, than we will teach him."