Spinning

Once of the classic symptoms of a Fragile X child is the spinning.  From a very early age Connor started spinning everything he could get his hands on.  Often the first thing he does when presented with a new toy or object is to test how well it spins.  His favourite toys are the ones that not only have their own function but also spin really well i.e. his shape sorter.

This morning he raided the coasters, AGAIN, and started spinning two on the floor simultaneously.  I'm supposed to redirect him to more productive play when he starts doing this, so he doesn't just focus in on the spinning and phase the world out.  Prior to doing that though I had to take some video of his efforts, I think the co-ordination it takes to do what he does is quite impressive, especially for a two year old.  I've put the video on YouTube and the link is on the menu to the right under Connor's Videos.

I should note that I've seen him do the same trick with 4 plates at once too.  We need to find him a circus to join.  :)

At Play

We had a big day yesterday. Myself and a friend had organised a geocaching event to which about 50 people came. Geocaching is a great hobby we are into, if you want to know what I'm rabbiting on about go to www.geocaching.com.

Anyhoo, we all gathered at a local RSL and my friend and I ran a trivia afternoon. We had a fantastic time, but amazingly so did Connor. A room full of people he doesn't know could have been quite intimidating for him, especially as his daytime sleep got completely missed. Instead he had a blast.

He ran around and got into things (with Daddy and G'ma taking turns running after), he tried playing with another little boy and he even considered stage diving. The other little boy was jumping off the two foot high stage and Connor kept running up to the edge and deciding if he should too. Of course my little G'pa didn't, but he thought about it and that counts for a lot to me. He was trying to mimic. Not something that comes naturally to a little Autistic/FXS boy. I also saw him touch the other boys shoulder with his hand. His hand! Connor hardly even touches me with his hand (holding hands to walk being the exception). He was actively trying to make a connection. The other little boy had no idea what Connor was up to and told him to stop but that's ok Connor wasn't distressed by that and was clearly having a great time.

It was the icing on the cake of a wonderful day to see my boy having fun AND taking developmental steps. He was pushing his boundaries and I like to take that as a good sign for his future.

Playing with his favourite steering wheel

1st Day Back At Playgroup

Last year Connor got accepted into the Early Childhood Development Program (ECDP) for the playgroup program. We went to a few sessions at the end of the term and Connor and I both really loved it. Today was our first day of the new term and we headed out with Merryn and G'ma in tow.

Connor just loved it.  I knew it was going to well even as we pulled up and he recognised the school, I got a swift kick in the back of the seat and loud sounds of excitement coming from behind me.  The teacher from last year was there to great us and Connor straight away went to exploring the room and testing everything out.

There are only 3 other kids in Connor's class at the moment.  We have a little girl with CHARGE Syndrome, a little boy with Downs Syndrome and a new little boy that I think might be autistic.  I always like to tread softly with other parents when asking about their kids, so I haven't asked his mum yet.

It was a lovely morning and Connor did really well.  We did singing, where he squirmed half the time and was excited and happy for the rest, we did craft and we did free playtime.  In craft we had to paint and use glue and stick things down.  Even as recently as November of last year he was still gagging and pulling away when presented with paint and textures that were too confronting.  But this time he got right into it.  He helped me squeeze out the glue and push the wool and macaroni down to make his face and he loved the painting so much we had to get him a second sheet of paper.  He ended up with paint all over him and I was just pleased as punch.  :)

By near the end of the session he was absolutely exhausted and had started to take toys off to quiet corners so we headed home a little early.  Both kids had a good sleep that day and mummy sat on the couch for a while too.  :)

I'm very glad to be back to playgroup.

Video Bar and Links

In preparation for the new Australian Fragile X DVD I've added the Video Bar. I'm expecting word any day now that it has been completed and am looking forward to seeing the final edit.

In the meantime I've included some links to the Living With Fragile X DVD that was made in the US a while ago. The information about the kids and what they do is still exactly the same, I was ticking things off the list as they went through some of the characteristics. Connor certainly is a 'classic' case.

I've also added some new links into the Important Links list, along with Living With Fragile X I've now included FRAXA.  FRAXA is an organisation that raises money for and researches a cure for Fragile X.

I live in hope every single day that something can be done for my son.  I love him so much as he is but I grieve for all the things in life he will never do or have, like having a family.

7 to 12 Months

Just posted 7 to 12 Months page. Gee a lot happened in that first year and I've not even mentioned moving house or any of the other ups and downs.

http://myfragilexboy.blogspot.com.au/p/7-to-12-months.html

In the last few weeks Connor has figured out the mouse and keyboard work the computer. He's been playing the iPhone since he was 12 months old, but this isn't direct input. The computer is often on or I'm using it and he's started climbing up to play on it. So far he just creates havoc, but I'm very proud. :)

Teeny Tiny Walky Talkies?

Connor went to sleep fairly quickly and easily last night. Invariably that translates into the rest of the night not being so great. An hour after going to sleep he woke screaming hysterically and took 1/2 an hour to settle.

That wasn't so bad really, it was the 3:30am wake up that has me lying on the couch yelling at Connor to get off his sister because I'm too tired to get up. Both kids started at pretty much the same time. Merryn (who co-sleeps with us) leapt up and started playing. She's not been back to sleep yet and it's nearly 8am. Connor started grizzling a few minutes later and even after a nappy change and milk has also not gone back to sleep. I'm convinced they're in cahoots and have tiny Walky Talkies they are coordinating their movements with.

You've just got to respect the stamina of kids.

Well mum is up (she has just moved in for a while, did I mention that already?), so I should try to pry myself off the couch and organise breakfast.

Happy Australia Day!!!

We're Not Alone! Note

I should mention that we do get wonderful support from the Fragile X Association of Australia. It was just seeing all those words posted from around the world that mirrored what I was thinking so perfectly, that got my attention.

Connor has woken up screaming this afternoon(burning bum again/still), I'm off to cuddle him now I've made my amendment. Would hate to offend anyone. :)

We're Not Alone!

Writing this blog got me to thinking that there must be other Fragile X families out there who are using 'blog world' to vent into so I did a search. What do you know there are heaps of us special people out there!

I've started having a read of some of the blogs and I have to say it's like looking into a mirror. These other mums seem to be reading my mind and putting it down in words. I've joined a Fragile X Webring and put it on this blog. I haven't even written to any of these others people yet and I already feel less alone and less like a freak.

Would write more but Merryn is in my lap and is teething and cranky. She's not really slept for the past four days which means neither have I.

I should note that Connor is having more burning today and yesterday. I wish the allergy testing people would get back to us, I hate seeing him crying pain and walking around like an old cowboy.

Sleep Clinic

Wahooo!!!! Got a call and 1st of February is our day to go into the sleep clinic. I didn't think we'd get in so soon. I'm very excited for both Connor and I. He is definitely heaps better than he was and I think taking him off dairy has been a big help with that. But he is still very unsettled, takes ages to get to sleep (between 1 and 2 hours), has night terrors and wakes pretty much every night between 1 and 3 for an unknown period of time. Anything they can do to help will be fantabulous! :)

The year is starting to gear up. Today was playgroup (the 'normal' flavoured one), his 'special' playgroup starts on Wednesday, he's got a pediatrician and sleep clinic appointments coming up and FECS will be starting in a few weeks. Back on the appointment treadmill we go.

I mustn't complain though, the fact that we have appointments means we are getting help. :)

Just Because

My boy is looking very cute this morning, so I thought I'd share.

The Australian Fragile X Association has asked to use a picture of him in the next brochure they are currently working on. They said they thought he was very photogenic. I think I agree. Proud mum much.... :)

Testing Merryn

I forgot to mention I finally took Merryn in to be tested for FXS. I've been holding off for a while because she is so little and I knew the blood taking process wouldn't be fun. Had I known how bad it would be I might have waited another few months!

The problem was the nurse decided to use the heel prick method. I sat in the chair and held Mez while she negotiated a kicking leg. Of course as soon as the prick was done and she started squeezing blood Merryn got upset and starting kicking harder. I started breastfeeding her and immediately she calmed down. So at this point I thought it was all going swimmingly. Then I looked up to see a try full of blood soaked cotton wool balls and hardly a drop on the vial! Apparently the vial had a thread on it that was making the blood go everywhere but in.

She went out to see if she could use a different container while I played with Mez. When she returned she said she had approval from the genetics testers to use another vial with no thread so we swapped sides and started again. This time Merryn was having none of it. As she screamed louder and louder the nurse squeezed and squeezed. At one point she actually spilt some of already collected blood on my skirt as she tipped the vial up. It was disastrous! After what seemed like forever she finally called it quits with a tiny amount in the bottom of the vial. Apparently we only needed to collect 1ml so I am hoping that was enough. I don't want to do that again!

So now the waiting starts. Hopefully she will come back all clear from the DNA testing which should only take a week. *cross fingers*

Gentle Heart

Since about the second week Merryn was born Connor has adored her. He smiles at her, 'kisses' her (headbutt really but it's done with love and we have taught him to be 'gentle', even if his enthusiasm means he does it about 20 times), and loves to play with her. Merryn for her part thinks her brother is the best person in the universe and smiles adoringly at him and crawls around after him.

Yesterday Connor had once again stolen Merryn's fairy wand. She got it for Christmas and has hardly got a look in over her brother who thinks the tinkling sound it makes when you wave it is the best sound ever. I've been telling him he needs to share and that it's Merryn's wand and she should have a turn too, for a few days now. Honestly I don't really think he takes in 90% of what I say, but sometimes he surprises me.

After I had once again mentioned to him that he should share with Merryn he did just that! He sat down in front of her on the floor with the wand and pushed it toward her. Then after a few moments he took it back and waved it around, then put it back in front of her again. This went on for about 5 minutes, with Merryn grinning like a fool because her big brother was so focused on her and completely ignoring the proffered wand.

I just stood there in wonder. I was so proud of him and I gave him big hugs and let him know he'd done a wonderful job.

Makes me wonder how much he's really taking in now. I'll have to be more careful. :)

Sleep....Nope

Ah well, one night in a week is still a good thing right?

Connor took two hours to get to sleep last night, woke up an hour later screaming and took both Andrew and I to get him calmed and back to sleep. Then he woke again at 3am (made worse for me because I'd been up with a distraught Merryn from 1am to 2am), which thankfully was just a nappy change a bit of milk and he was back to sleep again.

I had mad plans to not let him sleep today, but he is currently passed out in his cot and I just can't wake him. With all the fighting I do to get him to sleep, when it happens I don't like to mess with him. Not to mention if you wake him up before he's ready he can cry for 30+ minutes.

Andrew and I are supposed to be going to the movies tonight....G'ma is in for a tough night of babysitting methinks....oops....

FECS

We've had a big day today and it's only half done. :)

This morning we went to FECS (Family and Early Childhood Services) which is a part of Disability Services. We were lucky enough to be accepted into their program at the end of last year, which gives Connor access to Speech and Occupational Therapists, Physios and Psychologists. Today was the planning session to tell them what the goals are I'd like to achieve and where Connor is up to developmentally at the moment.

The goals I set were communication and sleeping. Sleeping is of course always high on my mind with the lack of it we get around here and the difficulties Connor has getting good quality sleep. They have promised me some home visits by the Psychologist. I am both excited and terrified of that. What if she comes and sees I've been doing it all wrong the whole time! Oh well, it's not about me, it's about making things better for Connor.

The communication is also a big deal. Since Connor is completely non-verbal I have to interpret his grunts, shoving, pulling, hand grabbing and tears. For the most part we do OK, but it would be wonderful to actually communicate with him on a higher level and for me not to have to guess all the time.

We will get our schedule in a few weeks time and start therapy in early February. I can't wait. We've not been able to do any therapy since before Christmas, as we ran out of funding, and I can really see a difference in him. I think he was really enjoying the challenges of therapy and he is bored. I need to take up the slack and do more with him, which means being better organised.

*sound of whip cracking*

Press Release

A new press release came out yesterday. They've found a way to test newborns for FXS.

It would have been fantastic if they'd been doing that for babies when Connor was born. We would have known immediately why he was having trouble feeding and sleeping and could have gone straight into the right support. We wouldn't have wasted years of time trying to get things to work that just don't work on these kids and we could have been trying techniques that actually do work.

Ah well I can't complain, we got a diagnosis by 2 and started therapy by 2 1/2. There are a lot of kids out there that don't get diagnosed that quickly.

Below is the press release.

MEDIA RELEASE 17 January 2012

Innovative test could revolutionise Fragile X screening and diagnosis

Researchers from Murdoch Childrens Research Institute have developed an innovative new test that could revolutionise the way Fragile X syndrome is screened and diagnosed.

The Murdoch Childrens test uses a DNA region that was previously thought to have no function. Researchers say the new technology could be used as an early detection test for both male and females, and could be included in newborn screening tests, leading to improved quality of life for thousands of patients and their families.

Fragile X syndrome is a genetic disorder caused by a faulty switch of an important gene called FMR1 which is located on the X chromosome. Fragile X syndrome is associated with a range of developmental, physical and behavioural problems and is the most common known cause of inherited developmental disability worldwide. It is estimated that 1 in 130 females and 1 in 180 males carry the FXS gene and that 12 FXS carriers and one fully affected FXS child is born in Australia each week.


Early identification and intervention improves outcomes for children with Fragile X syndrome but until now it has been difficult for doctors to diagnose the disorder until the age of three years or older.

In a world-first, the researchers have shown that the new test can detect both the type and severity of symptoms in Fragile X syndrome with unparalleled accuracy in DNA samples from 154 females, with 18 of these having the ‘faulty switch’ in the FMR1 gene.

Lead researcher, Dr David Godler, from Murdoch Childrens said that in the study the test was shown to be superior to others available in predicting developmental disability particularly in females, and that the discovery could pave the way for a simple, accurate and inexpensive test for Fragile X syndrome that could be used for population screening.

“The test is especially advantageous for diagnosis and screening in females, because it can specifically and accurately identify those individuals who are expected to develop cognitive impairment and can therefore potentially identify those most likely to benefit from early intervention,” Dr Godler said.

John Kelleher, President of the Fragile X Association of Australia has welcomed the finding, saying the test has the potential to benefit thousands of Fragile X patients by providing sufferers and their families with early detection and intervention, leading to better treatment and improved outcomes.

This test has the potential to become one of the most powerful tools to be discovered this decade for accurate diagnosis of children with Fragile X syndrome with clear implications for their families. With it we may be able to test and treat affected individuals early on in their lives giving them the best chance to live to their full potential and to save parents the anguish of spending years searching for a diagnosis. The association has spent several years lobbying for the inclusion of FXS testing within the heel prick test and now Dr Godler and his associates have developed the technology. Congratulations.’


The novel test was developed by Murdoch Childrens researchers Dr David Godler and Dr Howard Slater in collaboration with Dr Danuta Loesch from the School of Psychological Science, La Trobe University. The work was supported by the Thrasher Research Fund and National Health and Medical Research Council Development grant.

Larger studies are now underway internationally to further validate the findings. This work was published online today in the leading clinical laboratory journal Clinical Chemistry.


…ends…

Media contact Murdoch Childrens: Simone Myers – (03) 8341 6433 or 0407 852 335

FRAGILE X PATIENT / FAMILIES

2 to 6 Months Done

Finding time is the hardest thing for me right now.  The kids invariably don't sleep at the same time or if they do it's not for long.  Today I got a very nice block of time to myself though and got the next chapter in Connor's history done.

It's an interesting experience writing it all down, it brings back a lot of memories and reminds me how hard it has actually been.  I often like to tell myself it hasn't really been that bad and if we'd been able to get more sleep it would have been fine.  Looking back on what I've written I'm not so sure about that now.  :)

Anyhow, hopefully I can get 7 to 12 months done soon.  Then I'll only have from 12 months to 2 and the history will be done and it's onward and forward into the great unknown!

http://myfragilexboy.blogspot.com.au/p/2-to-6-months.html

Sleeping Through?

We might be starting to have a win on the sleeping!

Connor didn't get a daytime sleep yesterday, he settled it beautifully last night with little fuss at all and then slept through until 6am.  What a joy!  He's definitely phasing out of the daytime sleeps and somehow that seems to be allowing him to cope with the nighttime.  Ok, ok, one night does not make a forever and he has slept through on a few prior occasions in his life AND I do tend to get my hopes up.  But hey, a girls gotta dream.  :)

Talking?

We were out and about yesterday doing a spot of geocaching with the kids.  Lots of driving to a place, getting out, hunting for little plastic boxes then back in the car.  Our kids are very good about it, all things considered.

At one point I was carrying Connor, who was getting tired so didn't want to walk anymore.  He started blowing raspberries and I was blowing them back and there was lots of eye contact and giggles.  It felt like a moment of connection like he was really trying to communicate with me.  Usually if you do something and then pause he doesn't do it back.  Children as supposed to mimic but he's never really done that.  Yesterday I would raspberry and stop then he would and back and forth.  A real dialogue of lip smacking.  :)

I take heart in those moments.  When his beautiful grey eyes look into mine and he gives me one of his precious smiles.  It gives me hope that one day I will get to have a conversation with him....a real conversation with words and everything.  Today he is back to pointing and grabbing my hands to do things and not making eye contact.  But for a moment yesterday.....

Getting His Diet Right

It's been a bad week.  Connor has woken screaming most nights somewhere around 1:30am with a couple of 9pm ish nightmares thrown in too.  I'm suspicious of some lactos free yoghurt I was trying.  He's not been sleeping during the day and he's been really wired and not as responsive as he usually is.  He's off the yoghurt now (which breaks his heart and he's still searching the fridge for it) but I'm hoping tonight is going to be better.  He went to sleep really well and hasn't woken with a nightmare yet.

He's seemed...there is no good way to say this...very retarded this week.  Flapping and his mannerisms and not listening, as well as repeatedly doing things I keep asking him not too.  It's very scary.  I just can't help wondering if this is it.  If he's never going to develop more than where he is right now.  That is a very real possibility with this syndrome.  I'm wondering if I'm the right person to be his mum, if I can do this, if I can cope.  I love him, but can I raise him and look after him.  How did it all come to this.

The Burning

This past month has been a terrible one for the burning.  Christmas Day he got one that burnt a hole right through his inner thigh.  We had to bandage it up (thank goodness my aunt who's a nurse was here) and it took a week to heal.  Since then we've had other minor burns and yesterday another bad one all over his groin.

He has an appointment with the pediatrician  in February when I'll be asking once again how far off allergy testing is for him.  I can't bear to see him screaming in pain while I have to clean him off and it's happening way too often.  The problem is there are only a few allergy specialists in Queensland so the waiting lists are huge!  I just hope we've progressed through the list and he can see one soon.  I don't give him dairy, I've tried to cut out the wrong sugars, I'm trying everything I can think of.  I need some medical help on this one.

Possible Medication.....

I've been watching posts on the Australian and US FXS Facebook pages and something interesting came up on the US one yesterday: http://abclocal.go.com/wabc/story?section=news%2Fhealth&id=8468423

They've been trialing some medications and have seen some really encouraging results.  They are now running more extensive trials:
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MIND and MINOCYCLINE: The UC Davis MIND Institute is conducting a clinical trial in patients aged 3.5-16 years with Fragile X Syndrome (FXS). It is a controlled trial of minocycline, an antibiotic commonly used in children for infection or for treatment of neurodegenerative disorders. Recent studies have shown that minocycline improved brain connections and learning tasks in Fragile X mice, when given after birth for one month. Also, a preliminary survey of more than 50 individuals with FXS, treated with this medication for an average of 3 months, has demonstrated improvements in language, attention and behavior in some. From this study, they hypothesize that minocycline will be helpful for language, behavior and/or cognition in patients with FXS. The aim of the trial is to assess behavior, perceptual and cognitive development in patients treated with minocycline or placebo, as well as the side effects of minocycline treatment.
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Got my heart racing reading about it.  The mum in question made a comment on Facebook to say her little girl has had no side effects at all and it's really helped her development.  I'm going to write a letter to Dr Randi Hagerman who is running the trials to find out if Aussie kids can get involved.

I wrote a comment on my Facebook page a few days ago: "Thinking too much about what my boy would be like if he had all the FMR1 he needs. Not a good rabbit hole to go down.".  As always my wonderful friends responded with comments of support and some expressed a feeling that our FXS kids are perfect the way they are.  While that is a beautiful sentiment and a very Zen perspective I'm not sure I'm at the point I can accept that.  Right now I'm in mummy fight mode, I'm fighting for every little thing I can do to make sure Connor can reach the best potential he can.  Not only is he doing Speech and OT Therapy, he's in a special Playgroup and we've started to implement things at home like PECS.  I've also been told about alternative treatments like Neurofeedback that we can try when he's a bit older.  While I would never want him to feel like a lab rat, I also want to be providing the right stimulus to him so his brain can work around this disability as much as possible.  Perhaps these medications could be another piece of the puzzle to help with all of that.

I don't know, but I'm not going to give up.  I love him with all my heart and he's a beautiful affectionate angel, but I also see how he struggles to communicate, his nightmares at night, his trouble sleeping and his problems connecting with other kids, and he's only 2.5!  I want to make things better for him and I think, as his mum, that's my job.

Crash

I've had a crash over Christmas.

All that time spent with 'normal' children, including his sister who is developing and hitting milestones almost daily, has just put a big spotlight on how behind he really is.  I've started crying again and feeling so very helpless.  It's just some stupid FMR1 that he needs, if he had that he would be everything he can be.

Argh!  That sounds so awful, like I'm saying he's not awesome how he is.

It's hard to put into words.  I just feel so terribly awful for thinking it and being the one who did it to him and not being able to do anything about it.  Of course the more I crash the less stuff I do with him at home and that just make the guilt worse.  Not to mention means he runs around like a lunatic looking even more....disabled.  Is that the right word for him?  I don't know.  He doesn't seem disabled to me.  He's different and challenging, but he's also loving and he does the cutest things.

He's recently started wanting to 'help' with everything.  He puts his hand on the vacuum cleaner as I run around vacuum.  He pushes the bags into the bin as I change them.  Yesterday he tried to help his aunt and I carry the Guinea Pig hutch out.  He opened the gate when asked and then walked beside the hutch with his hand on it as we carried it out.  I think that's good.

Maybe it's just the FXS depression hitting.  It's a common problem and I've always had ups and downs.  Maybe I'm just feeling really down and overwhelmed because of that.  This Fragile X is such a guessing game.  You never really know what's happening.

Well I'd better go.  Merryn is wailing, while watching Dr Oz so I better go and find out if she just wants the channel changed or if there is something actually wrong.

Spech Therapy

Speech Therapy is usually every second Wednesday. I think I love the sessions as much as Connor does.  Our therapist gives me hope when everything else just seems to highlight the negatives and how very far behind he is.

I think the sign of a good therapist is someone who can help the parents cope while treating the child.  :)

Just Breath

The screaming at 1:30-2am is driving me nuts again. I try to keep calm and just get the job done but the kicking and screaming and yelling are just so unnecessary.  Unnecessary...it's so easy for me to say that, but I know for him it's not that easy.  At least I know that in the light of day.  In the middle of the night I'm not so understanding.