Fragile X Memories

The Perfect Storm.

Melissa

No, this isn’t about Sandy. It’s also not about that movie I never did get around to seeing. This is about grief.

A very long time ago, I had another blog. A secret blog. *gasp* I know! Another amazing, inspiring blog and I have kept it from the world? Shocking and selfish. Or, maybe, it was not either of those things. Maybe it was just stuff I wanted to share with my parents and in-laws. The world will never know.

Yesterday I was discussing grief with friends, specifically how we grieve as parents of children with fragile X. How it’s a vicious cycle that keeps a grip on us from the day we are diagnosed until…well, I’m not really sure when. All I know is that I was knocked off my feet the day I found out that Caleb had fragile X and, even though I keep standing back up, it still has the power to send me to the ground over and over again. Just because it’s easier for me to stand back up doesn’t mean that the pain is any less. It still hurts.

Separately from that discussion I decided I wanted to find some pictures of Caleb’s hair, he has spectacular hair. I love every single curl on that head and it makes my heart happy to look at him. So I pulled up that old blog to find pictures of him as a baby and I found something else. I found me. I found the me I was before fragile X. I found the mom I was, the one I should be. The one I would be if I’d never heard of fragile X syndrome. If the right X had passed between us.

I wrote this 14 days before Caleb arrived.

Waiting for Caleb

Eric and I were delighted to announce to all of our friends and family in November 2003 that we were expecting our first child. We waited until I was nearly 12 weeks pregnant before we made the announcement. I had taken a picture of my positive pregnancy test for the little one’s baby book. When the time came to tell my Mom and Dad we simply handed a copy of the picture to Mom. Mom seemed surprised but hid it very well, she then handed the picture to Dad. He couldn’t quite make out the writing and finally Mom had to tell him what he was looking at. They were both very happy for us, as we knew they would be.

When I was 18 weeks along we had a routine ultrasound. At first the Dr. had a little trouble getting the baby to cooperate, he appeared to be as camera shy as I am, lol. Eventually, after some prodding, the Dr. was able to get a few good profile shots. After the Dr. took a few measurements of the baby he decided to have a look around. He asked if we wanted to know the sex of the baby, obviously, we said yes. He zoomed way in on the baby leaving no doubt that he was in fact a boy, lol.

The ultrasound was an amazing, awe inspiring experience. Seeing our little guy’s hands and feet and watching him move brought tears to our eyes. But true to form we found some humor in the situation as well. I commented on how cute he is and Eric’s responded, “Yep, he’s taking after me already.”

He’s so modest. By the end of the ultrasound Bullet was pretty upset about the whole experience and he brought his little fists up by his face so he looked like a little boxer. I made the obvious observation, “Awwww, look, he’s pissed off! He takes after me too!”

We both enjoyed the pregnancy so much, the only reason we won’t be sorry it ended is because we’ll have a perfect, little boy to love and spoil.

It makes me so unbearably sad to think about her…to think about that person who expected the whole world to sparkle simply because it always had before.

There are some positives, though, starting with this one…

A really, really, ridiculously cute positive.

Things I wish I had known when Monkey was diagnosed.

Melissa

Every once in a while I’ll skim through some of my older posts and find myself shaking my head over some of what I wrote. Perhaps it’s just wishful thinking but it seems to me that there was an awful lot of hysteria and near hysteria back in those early days that I just don’t feel any more. It started me thinking, what do I know now that I wish I had known as a newly diagnosed parent?

  1. There is no magic therapy/medication/supplement that will fix this and he will only be little once. Don’t lose those moments to fruitless searches.
  2. This is not my fault. Yes, they are my genes but I DID NOT KNOW and I deserve a little slack.
  3. There are going to be stupid people who say stupid things, who do stupid things, don’t let them ruin your day.
  4. There are going to be mean people who say mean things, who do mean things, don’t take it. Stand up for yourself, for your child.
  5. If it is working, you are doing it right. Forget the book, forget what your neighbor’s sister’s cousin thinks…you are doing it right.
  6. A day, a week, a month…it’s not a long time. It will be over in a heartbeat.
  7. You will be OK too, someday. ((I had to edit to add this because it is really true. You have to learn all of this in your own time but keep it in mind when you are feeling helpless or hopeless.))

I know there are a ton more. Are there things that you know now that you wish you had known then?

Oh, I needed this!

Melissa

The ladies were trying to get me to blog last night but I was too busy nearly peeing my pants. This is just an inevitable occurrence when you take four moms and introduce much hilarity ((And how freaking ironic would it be for us to “get away from it all” only to still find ourselves cleaning up an accident???)).

I wish I had amazing images of the gorgeous mountain scenery and maybe a few shots of us posing like grown-ass adults in front of historically significant monuments but I feel that it is my duty to let you know that you will, very likely, never see such a thing here. Sorry. It turns out that when you take THESE four moms and put them in a beautiful cabin in the mountains, all you get are pornographic snowmen and attempts to stuff people into suitcases. Who knew that getting away from it all would bring out our inner frat boy?

On the serious side, we have all cried too. How can there be no tears when you get four moms of special needs kids together to share their stories and support each other? What is so amazing about it though is that they’ve all been tears of gratitude. These women understand me on a level that is bone deep. They GET IT, they have walked in my shoes. Sometimes they’ve done it better than me and sometimes worse. We can share the stories that we carry in the dark recesses of our minds and feel…understood and accepted. It turns out that those stories lose a little bit of their power every time you drag them out into the open…every time you give someone the opportunity to validate how awful it was and let them lift a bit of that burden off your shoulders.

I think it’s important to remember that no one of us is free of the emotional turmoil that comes gratis ((Gee, thanks for that freebie!)) on this journey. No one of us has all the answers. No one of us has always handled everything perfectly. We are all the perfectly imperfect parents of some amazing kids. Whatever we do, whatever struggles we power through, whatever obstacles we seem to leap over in a single bound…is for these kids we love with every fiber of our beings.

We are all members of an exclusive sorority. A sorority of fear, grief, guilt, failure (both big and small), success (this only comes in epicly huge with our kids), joy, gratitude, awe, inspiration and love. I so needed to be here for this…

Cwap, that got way deeper than I intended.

Oh, look…I DO have a picture of one of the gorgeous mountains surrounding us!

I took a snowball to the back of the skull for this one, you’re welcome.

We’re going back to Madison!

Melissa

Wayyy back in 2008 ((Really?! Dayum! I’m glad I blog or I’d never remember anything!)) we were accepted into our first research study at the Waisman Center. We traveled in August 2009 for our first visit and we absolutely loved Madison! It is a great city and I would love to be going back in the summer. Alas, the 2nd visit is done as an 18 month follow-up visit so we’re going back to Madison in…February.

Yes, Madison, WI in February. Have I ever mentioned that I hate the cold and that I classify anything under 70 as cold?? Yeah. So…that’s less than ideal but…but…I don’t know. That rather sucks. Oh, I know! But Monkey will get to fly on a plane again and Monkey looooooved the plane trip. So, that will be cool. Yay! Found my silver lining, the world may resume spinning.

Cheeses priced. I am so distractible. I blame the caffeine. I also ♥ caffeine! Such a disfunctional relationship! Wee!

Anyway. I have forgotten my point. Oh, that’s right. I didn’t have one beyond what’s in the title. Sorry.

I feel bad. I’ve just wasted your time! Hmmm, I know! Check out the pictures from our last visit! I envision iceskating on the pool and, well…the bear will probably be hibernating but maybe the penguins will be out!? Sliding down the snow covered streets on their cute little bellies! I’m going to freeze. UGH!

Amazing.

Melissa

Amazing is currently the most overused word in our house.  We’ve used it about Monkey’s behavior at family gatherings, his newly emerging participation at school and his always creative communication strategies.  He really just seems to be on a roll these days.

Monkey had yet another amazing day yesterday.  The three of us stayed home all day and Great Grampy joined us for the afternoon.  Monkey was still rather shy at the beginning but he did fairly well.  He mostly helped Duhdee cook while Great Grampy and I sat and chatted about his life growing up and all the different places he lived and worked.

After dinner ((Duhdee’s rack of lamb was great!  He’d never cooked it before but he followed Alton Brown’s recipe and it was very tasty.)), however, there was an amazing transformation.  Monkey brought back a piece of his Thomas Trackmaster train track sets.  Duhdee was sitting next to Great Grampy and we thought Monkey was taking the track to him but Monkey made it very clear he wanted Great Grampy to have it.  He brought back a few more pieces and continued to hand them to Great Grampy.   We moved down onto the floor and Great Grampy helped Monkey set up a track.  Monkey then began handing the Thomas engine and various cars to Great Grampy to assemble.  It was amazing!  The child who normally tries to distract Great Grampy from looking at him ((Typically, he will point at the sky (or ceiling) to get Great Grampy to look up.  Outside he is hoping there will be an airplane to distract Great Grampy, I’m not sure what he thinks Great Grampy will find on the ceiling though.)) was sitting only inches away from him and making eye contact and being very demanding, actually.  It totally made our day and Great Grampy looked pretty pleased himself.















Here enters the cavalry…

Melissa

This is a Fragile X Memory from before our Fragile X diagnosis.

At Monkey’s 12 month check-up his pediatrician was a bit concerned about his lack of babbling.  She asked us to set up another check-up for 15 months so that we could gauge his progress.  She reassured us and told us not to worry.  When his 15 month appointment arrived he had made no progress on his speech and at that point she gave us a referral to our local Early Intervention providers.

There is sometimes a long wait for an EI evaluation but we were seen fairly quickly.  The two woman who did the screening were a developmental specialist and a physical therapist.  We were very surprised to learn that he had global delays.  His speech delay was the most pronounced but he was lagging far enough behind in gross motor and fine motor development to qualify for services there as well.

We quickly set up a schedule of services and soon (what felt like) an army of young woman were traipsing in and out of the house 5 days a week while I was at work.  The developmental specialist and the physical therapist who had performed the evaluation became his case manager and his physical therapist, respectively.  An occupational therapist and a speech therapist rounded out the team.  They were all very nice and Duhdee, in particular, was appreciative of their efforts.  Monkey and I were not that happy.

Monkey, with his stranger aversion, was probably the most unhappy with this turn of events.  Suddenly there were strange people in and out of our house and they all wanted him to INTERACT.  The horror.  He spent a lot of time avoiding but we were so fortunate to have a very stable team.  Over the  20 months that we received services his team remained nearly intact.  He was able to develop bonds with each of his providers over time.

My reaction to all this is interesting to me, in hindsight.  I was not grateful for the help.  I took every comment or suggestion as an indirect insult.  I cannot tell you how many times I thought “Do they think I’m stupid?  Maybe they think we keep him in a box when they aren’t around!”  I probably even said those things outloud to Duhdee a few times.  Prior to receiving his diagnosis I was convinced that we were doing something wrong, Monkey was fine, we were just idiots.  We had no business having a child if we couldn’t even teach him to talk, for goodness sake.  So all these feelings of being a failure as a mom manifested in a simmering rage at the lovely folks who were helping us and helping him.

I’m not proud of how I felt about the situation, I think (I HOPE) I was more friendly to them than I felt at times.  If I was not, I hope they understood that it was not them that I was angry with.  I was feeling like a failure, I felt helpless and that came out in anger.  Ultimately, I did come to appreciate his team.  His developmental specialist, in particular, became very much a part of our inner circle.

After our diagnosis she accompanied us to a myriad of assessments, she spoke the language of the therapists and we felt so better to have her knowledge and support.  She also accompanied us to a Coffee Talk presentation and brainstormed with us as to how we could use this new knowledge to improve how the team worked with Monkey.  She went so far above and beyond what we could have ever hoped for.  She even arranged for her best friend to babysit for us on a few occaisions (she couldn’t do it b/c he was a client.)  After he turned 3 she babysat for us just to have a chance to see Monkey, she loves him so much.

At this point I think his entire team has left EI which is a terrible shame.  Low pay, too much work and no appreciation from management took their toll and these amazing women have moved on.  I know they will go on to use their training and skills to help other people, I’m just sad for all the little kids who won’t get to have the experience Monkey had.

For today’s FX Memory we’re going wayyyyy back to…

Melissa

June 17 and 18, 2008.  Ha.  Read the posts, these are just about the worst days we’ve had since the diagnosis.  Our stress level is at the very highest.  We’re worried, angry and feeling isolated.  But there was an awesome moment in there, that’s what I’m going to share here.

We’ve been working very hard to potty train Monkey for the last few weeks.  He’s not a big fan.  As often as not, he will tell us “No” and/or sign “all done” when we mention trying to use the potty.  It’s not a lot of fun for any of us.  It’s not awful, just not great either.  Our results are pretty dismal, we get him to successfully pee in the potty 1 or 2 times a day at most.  He’s still not telling us when he has to pee, he’s not telling us when his diaper is dirty (pee or BM), his BMs are still loose (despite Benefiber)…ugh.  There’s just not much encouraging us but we keep plugging along.

Yesterday morning Monkey came to my side of the bed and touched me to wake me up.  As soon as I opened my eyes he pointed at his bum and said “Yuck” and then pointed at the front of his diaper and said “Yuck” again.  Sure enough, he had pee’d and had a BM!  WOO HOO!  That’s the very first time he’s shown that awareness and/or communicated it to us.   The best part?  It was 7:30 and I’d overslept so Duhdee had to change the diaper while I showered for work.  Really, it can’t get any better than that 😉

Discovering ASL.

Melissa

Between starting EI and receiving the FX diagnosis we purchased two Baby Signing Time DVDs but we didn’t use them. Duhdee and I had decided early on that we wouldn’t let Monkey watch TV until he was 2, at least. We received the diagnosis a few weeks before his 2nd birthday and we finally decided we really needed to try the DVDs. Clearly he wasn’t just going to start chattering away one day as everyone had been saying and he needed a few more signs than “more” to communicate effectively!

We started playing the DVDs for him, he was interested in them for a few minutes but that was about it. We kept trying, at least we were learning signs even if he wasn’t. That summer we took our normal 10 day vacation with my family in the mountains of Maine. I was a bit reluctant to go up that summer because they were building a new house which meant the lot was not child friendly (dusty/dirty/construction zone) and everyone was going to be busy. It turned out to be the BEST thing for us.

We took the DVDs with us and we played them A LOT because we had no other form of entertainment. In addition to that we introduced Monkey to the quad that week. He LOVED riding in our laps as we drove oh so slowly up and down the driveway and through the shallow brook. We started using the quad as a reward, he learned to sign “go” on the quad. By the time we came home he was sporadically using about 10 new signs!

That vacation truly was a turning point for both Monkey and for me, he finally realized these signs WORKED to get him what he wanted and I finally realized that he could totally rock ASL if we were persistent.

Depression round…two?

Melissa

Posts about my previous treatment for depression can be found here: Part 1 and Part 2.

I am not sure this really was round two for me.  I had struggled with depression for so long before I hit bottom and needed treatment in my mid-20’s but it was not a constant feeling of depression.  I had times where I functioned very well and other times where I could barely get through the day.

My entire junior year of college I had isolated myself.  I moved to a new house on campus where I didn’t know anyone and when I returned for my senior year NO ONE knew that I’d even lived there the year before.  I was a ghost, showering during off times, entering and leaving through the service door, studying and eating meals by myself in my room when I wasn’t in class.  I had been fine my sophmore year and I was fine my senior year so obviously this came in waves.  I really have no idea how many times before that I should have sought help and didn’t.  So round two is really just a marker for the second time I realized I had no option but to seek treatment.

No one will be shocked to learn that it coincided with Monkey’s diagnosis, I’m sure.  I’ve written before about how badly the diagnosis was delivered and how much we struggled in the beginning because we had no reliable information or support.  In the first weeks after we learned Monkey had Fragile X, I stopped sleeping.  I spent night after night in bed tossing and turning until I couldn’t stand it, then I would get up and go online to search endlessly.

I was feeling guilt, hopelessness, isolation and anger.  I wanted answers no one could give me.  I wanted help no one would offer me.  I wanted to run away but I love Monkey too fiercely to contemplate leaving him behind and, even if I did do such a thing, Fragile X was with me forever now regardless.  I thought it would be best for both of us to just cease to exist.  I never thought about harming my Monkey, I never would.  I just thought it wouldn’t be the worst thing in the world if we could be together and free of all the fear and struggles that lay ahead.

That right there…it’s my crazy* talking.  This time I saw it for what it was and I was sitting in my physician’s office the next day.  I tried to explain what was happening, I mentioned Fragile X which she admitted she knew nothing about, but ultimately what I did was cry.  It was clear I was out of control of my emotions, the lack of sleep, the shock and fear I was feeling, my history of depression all added up to me needing more than she could give me.

She referred me to a therapist in her practice and I set up 3 visits for the first week.  That, is a lot of therapy.  I needed something to help me even out my emotions though and drug therapy takes time.  This was my second round of therapy and it was an unmitigated disaster.

The therapist had not ever heard of Fragile X Syndrome and did not take the time to do any research.  I found myself in her office on that first visit explaining what it is and how it’s passed on and I BARELY understood this myself at that time.  As I sat there my tears dried up and I started to feel annoyed and then angry.  I left, thinking I wouldn’t go back but outside of the office all the emotions that had convinced me to seek help came back.  I went back for a 2nd and 3rd visit, repeating all the same information and then she did something I still have trouble believing.

She suggested that, since I was so surprised at the diagnosis and had never suspected anything that serious was wrong with Monkey, maybe he didn’t have Fragile X at all!  Maybe they were wrong.  I was so stunned, I tried to convince her that it wasn’t a misdiagnosis but she persisted.  I left.

The following week I only had 1 session scheduled.  When I returned for that visit she started in again about the fact that he might not have it at all.  I felt totally disregarded and disrespected.  She obviously hadn’t taken any time to check into Fragile X and it seemed she never would.  Furthermore, she decided that I wasn’t actually depressed, I was just suffering from insomnia so she prescribed a sleeping pill and nothing further.

I was, again, stunned.  She had my medical records.  She knew I suffered from depression, she knew that I had been suicidal in the past and that I had used sleeping pills inappropriately (to say the least) in the past and here she offers to hand me a bottle of them and not treat my depression.  The medical group that I visit has a staff geneticist (who I later saw) who could have told her, had she asked, that with my history I should be on anti-depressants now and probably forever.  But she didn’t ask.

When I left her office that day I took the prescription and did not make another appointment.  I filled the prescription on my way home but, after further consideration, I decided it probably wasn’t in my best interests to have it around and I disposed of it.  She never once called to follow up.  A (reportedly) depressed person walks out of your office with a prescription that she could use to kill herself and never comes back and you do what now?  Yes, that’s right, just forget about it…that seems logical, right?

Fortunately for me pieces started falling into place for us after that visit.  We found people at the National Fragile X Foundation to listen and advise, we were given contact information of family who could help, we found a geneticist who could explain the situation and what it meant to us, we found a clinic to evaluate Monkey.

I was able to walk away this time without the added support of therapy and I threw myself into finding what we needed to help Monkey.  Having this to focus on allowed me to cope.

This isn’t to say that I shouldn’t still be on anti-depressants.  I should.  Duhdee has, at times, been very worried about me.  He’s pushed me (gently) to go back but I was so discouraged by that last attempt and I’m so discouraged on an ongoing basis by the lack of knowledge in the medical community about Fragile X that I just can’t bear to.  When I most need therapy, I simply lack the strength of will to get it.  I lack the will to educate and advocate for myself the way I do for Monkey.  I guess it’s asking for too much to find someone who will go the extra step to educate themselves and figure out how to help me, they all seem to want me to do all the work.  I just don’t have the energy for it.

*Please don’t be offended, it’s my (inappropriate) sense of humor.  I know this is a very serious disease but self-deprecating humor is my trademark.  I can call myself crazy.  I’d never call anyone else that though.