Saturday 21 November 2015

Couple Sues Over Missed FX Diagnosis

I think this story sums up the lack of up-to-date information out there about Fragile X. I have personally been told by families that Dr's are refusing to test for FX because they think the child doesn't 'look' like they have it.

30 years ago when FX was first discovered there was a list of physical features that were listed as part of the symptoms list.  This list includes large ears, a long face etc. We now know people with full mutation do not necessarily have those characteristics, my two kids are a classic example of this.

If you have a child with intellectual delay, autism, speech delays, ADHD or feeding issues, please have a look at the Fragile X Australia website and get current, accurate information (http://fragilex.org.au). It could be FX. 


Wednesday 28 October 2015

Playful Treasures

It's been about 4 years since Connors' diagnosis turned our world upside down, and about 7 years since I slept through the night without interruption.  During that time I've been a stay at home mum and it's certainly keeping me very busy.  

For some time now I've been saying I'm unemployable, after years of stress and chronic sleep deprivation.  My ability to focus and concentrate is at about goldfish levels.  However, being a single income family is really hard, especially with all the additional medical and therapy bills coming in. 

So my sister and I have decided to launch our own online business.  We've called it Playful Treasures and it is focused on sensory jewellery.  Connor goes through quite a few chewy pendants and Merryn is starting to use them now too.  We wanted to source good quality products and provide them at a good price to families, for sensory seeking, teething and fashion jewellery.

 

Tuesday 27 October 2015

Toilet Training

Toilet training is a well known problem with FX kids.  Most full mutation kids are 8 or older before they start to grasp the concept, and some never do.

Connor is certainly fascinated by others using the toilet, but has no interest is using one himself.  After discussions with his teacher, we agree he's not ready to even start the process yet and he's now 6.

Merryn has gone through a lot of phases with toilet training, everything from interest to hysterics and back again.  I have finally been able to win her over though, and it has been with the use of a rewards chart and what is now an every growing stable of My Little Pony's.  It has created another issue around her now expecting 'treats' all the time, but I am absolutely thrilled that she has now embraced wearing undies and using a toilet/pot.

On The FXAA Board

As of this Sunday I am now on the Fragile X Association of Australia board.  There is a lot of work to be done in relation to education, research, advocacy and the support of Fragile X families.  I'm hoping to be able to contribute to that from the perspective of an FX carrier, daughter of a carrier with FXTAS and mother and aunt to full mutation FX children.

Verification Complete!

The verification process is done and Connor has been approved for all 6 years of special school.  He has come back with intellectual disability and ASD impairments, as well as an IQ of 42.

He will have to go through verification again when he goes to transition from primary school to high school (apparently Qld Ed think someone with an genetically caused disability can spontaneously 'recover').  But for now we can just focus on making sure Connor gets a good education and is happy and meeting his potential.  Yay!

Saturday 6 June 2015

Minocycline and Sertraline Trial Update

The decision to try medication came after the FX conference in 2013.  We were fortunate enough to get a one-on-one appointment with Randi Hagerman who recommended some meds for both Merryn and Connor to try.

It took quite a while to get everything in place and I was really starting to give up on it all at one point.  The appointments and testing I had to organise and get the kids to, to do the base line testing, was painful and was mostly done when I was very pregnant with Liam.

That being said it has been worthwhile in the end.  We have trialed both Minocycline (to help with the cognitive development and processing) and Sertraline (to help with anxiety).  It's been our experience that the Mino really didn't help Connor significantly and so it wasn't worth the side effects (staining the teeth and bones).  We didn't think Merryn needed to try it as she is doing so well cognitively.

The Sertraline, on the other hand, has been a success.  Both of them are very anxious little souls and often become overwhelmed, but they seem to keep it together a bit better with the Sertraline.  It's a very expensive proposition as we have to have it compounded into a liquid, but thankfully they take very small doses, so each bottle lasts about a month.

Term 1 - School and Kindy

Well Term 1 has already come and gone and the kids are well into Term 2.  Where is the year going?!?

Connor's first term at prep started out very rocky.  The first week seemed to go fairly well and he really liked catching the bus a few days a week.  It's a mini bus that does door-to-door pickups for the special school and has a person in the back with the kids.  Then week 2 arrived and he seemed to suddenly understand this was a permanent gig.  By Tuesday he was vomiting as we pulled into the carpark.  I spoke to his teacher, and she wanted to work through it.  I wasn't so sure.  Thankfully he started to calm down in the third week and by week four we were in the groove.

There are some mornings he curls up under his doona with his iPad and tries to hide when it's time to get ready for school, but he always runs out to the bus and gives me a big smile and a wave.  It took until half way through this term, but we finally got approval for him to be on the bus 5 days a week.  It's good to have the continuity in our schedule and it makes it easier for me to juggle everything.

Merryn is doing one day of ECDP and two days of Kindy.  She absolutely loves both but every drop off is a challenge.  She gets very shy as soon as we arrive and I often have to carry her in.  She warms up very quickly though and absolutely loves the craft and activities.  We have been so incredibly lucky with the teachers we've had, they are all so understanding and work very closely with me to help Merryn though her anxiety.

It's been a lot of hard work to get to this point, but it seems to be paying off.  I'm still worried about Connor's education, but we will take it one day at a time and I'll be monitoring it as we go forward.  At this point in time we just need to get through this year and hope that Connor gets to stay in Special School (they verify the Prep kids AGAIN and actually don't allow them to come back if they 'fail' the second verification).  Merryn is enrolled in a mainstream school for next year, so that will be our next big challenge I think.

Thursday 8 January 2015

Connor's Latest Hair Cut



Connor is now 5 1/2 and in that time I've made two attempts
to take him to a hairdresser. Both were disastrous and involved very little actual hair removal. So my strategy has been to allocate a few days when I randomly sneak up and cut bits of hair off. He then bolts for the hills telling me done and I wait for my next opportunity to strike.

Needless to say I put this process off for as long as possible each time, until he looks like a shaggy surfer and it becomes imperative.

Last week the time had come and with scissors in hand I thought I'd try the direct approach first up. I explained I needed to cut his hair and cut a piece off. To my surprise he stuck around and for the next 5 minutes actually allowed me to cut his hair.

So proud of my boy, he's making some wonderful and amazing steps forward!

2014 Special Xmas Party


We were fortunate enough to get tickets to the Special Xmas Party this year.

The kids had a great time and I was thrilled with this photo. They fight me tooth and nail to not get Santa photos, but will pose happily with a life size Gamorrean Guard and two Jedi.

Go figure.  :D







Of course Miss Merryn had to get her face painted, and looks absolutely gorgeous as always.  She is such a little poser and loves having her picture taken and then looking at the results.

Amazing Perspective on Autism

Carly's story (follow the link below) hit home to me because I feel like Connors eyes say so much, just like Carly's dad said. I'll be trying even harder to help my son communicate and watching more carefully for his meaning behind things.

Carly's Story

Connor Approved for Special School


Wahooooo!!!! Well it took all year, countless phone calls, meetings, appointments, assessments and waiting (oh the waiting), but finally with only a few weeks of term to go we got the approval. Connor is going to special school this year! I cannot express my relief or the terrible stress this has been. I'm very cranky with Qld Ed for what they put us through and the appalling system they have. But back to the positives! I get to buy my angel his first school uniform next week. Yippee!!!