My Fragile X Boy

Connor Toilet Training

2017-05-03T14:27:00.002+10:00

Connor turns 8 in June and we were getting nowhere with toilet training. I kept talking to his teachers and pediatrician and seeing what they thought and no one could find a solution. I'd tried all the programs, we were all doing everything we could.

Because he's getting so big now, he has to wear expensive pull ups. He gets into the cupboard and changes his own wee nappies and goes through piles of them (and that doesn't include the 3 poos per day). It was costing a fortune (and we are struggling to pay our bills as it is) and over the school holidays I lost my mind. I bought him undies, put him in them and told him he had to use the toilet.

Well it's been about 4 weeks since I started this process. We've had plenty of wee and poo in pants and on the floor, but he's getting it. Wearing nappies meant, even though he knew how it all worked, he never bothered....I mean why would you?

Now he wears undies to school and at home. He takes himself off to the toilet and calls me to wipe his bottom. This morning he woke me up to come down and stand in the toilet with him while he pooed.

I am so proud of this gorgeous little man!!!!

Blogging

2017-05-03T14:18:00.000+10:00

I am the most inconsistent blogger on the planet. I think about it most days, but then I put all this pressure on myself. The post needs to be perfect and have pictures and be on topic blah, blah, blah.

Back when I started this blog I was stressed out of my brain, exhausted, I had two children under 2 and I really new nothing about Fragile X. So I called this blog My Fragile X Boy, thinking Connor's condition was the problem and that, that's what I needed to talk about.

Since then I've learnt so much more.

Now I know my daughter has it and that I'm a carrier who also has a whole heap of my own symptoms. And that's terrifying. I don't want to end up like my mum. She's in a home, her brain is turning to mush day by day, her body is frail. I need to be a super mum. I need to be healthy and strong because my kids need me.

Fragile X, really does screw with your mind.

Week 1

2017-04-03T13:40:00.003+10:00

Week 1 has been tough, but I think I'm making progress.

I had juice only for 6 days, as well as some oils to help with the detox. I thought I was going to die in the first 5 days, but the constant pain in all my muscles and joints is now gone and my brain is feeling less foggy. I've also lost about 2.5kg in the last week. The only downside, is the constant headache is still there, but it's only been a week, so I'm pretty happy.

I've now added some light meat and salads to the diet, but will still have juices for some meals. I'm also continuing with the oils detox. I have a specialist appointment next Monday, so it will be interesting to see what they have to say.

The Begining

2017-03-26T07:55:00.001+10:00

Yesterday was day one of a juice detox.

I know it sounds radical, but after further reading, I realised I am already exhibiting signs of FXTAS (reference NFXF):

Cognitive/intellectual decline, including short-term memory loss, loss of math or spelling skills, difficulty making decisions, and other intellectual functions.
Numbness or burning of the hands and feet (neuropathy).
Low blood pressure (orthostatic hypotension).
Personality or mood changes, which might include increased irritability, outbursts of anger, and inappropriate or impulsive behavior not typical of or consistent with the person’s previous personality.
Difficulty with organizing, planning, anticipating, and carrying out of everyday life tasks and activities (“executive function skills”).
Difficulty learning new tasks.
Fybromyalgia

If you are wondering, yes, I am following up with the Dr. However, after all the scans, blood tests, urine tests etc, my GP could do no more, so now I'm on anti-inflammatory meds and waiting for a specialist appointment, However, I refuse to do nothing while I wait for our health systems very slow cogs to turn.

After watching the documentary Fat, Sick and Nearly Dead I've decided to kick of a 10 day vege and fruit detox (which my sister is doing with me). I'll also be using some doTerra oils to help my system.

Fragile X Carrier - Inflammation & Immune System

2017-03-13T16:48:00.000+10:00

I go from having weeks of working like crazy, getting huge amounts done at home, and for the business I'm building with my sister, to hitting a wall. My brain shuts down, I'm tired, I can't even figure out what I need to do, let alone do it.

Recent tests done my GP showed my immune system is attacking itself and I have constant pain from inflammation. After putting a post up on our Fragile X Facebook page, it was revealed I am not alone. A lot of carriers are having the same problems.

With mum's health deteriorating with terrifying speed from FXTAS and Parkinsons (induced by the FXTAS) and the passing of another of our FX carrier sisters out of the blue recently, I've really started to think about my own health. The process of having my three kids has blown my weight out by 25kg and I'm starting to see more and more symptoms that don't bode well.

Starting this month I'm going to be implementing some new things. I want to try different ideas and see how/if they help. To help keep track of it all I'll be blogging about the process.

Fatal X Factor

2017-02-16T13:40:00.002+10:00

A few years ago a husband and father killed himself, his pregnant wife and son, and left his other son an orphan. This story breaks my heart for so many reasons, but it hits me even harder because they were a Fragile X family. This story (and others like it) have gone unnoticed in our community. The stresses of being a special needs family, the hopelessness and exhaustion are never addressed or discussed.

Journalist Ben Hills has written a story about what happened to that family. If you can, please read it and share it.

Fatal X Factor

Fragile X Awareness month - Day 30

2016-07-30T12:21:00.000+10:00

If we are to believe the news then things are pretty dire and you should lock your doors and not go out. I can tell you our experience this past month has been there are a lot more wonderful people out there, than the minority who get all the screen time.

Every chemist, daycare, therapist, school, parent, child, journalist, public servant, in fact everyone we talked to, said yes. Yes to putting up posters, putting fund raising boxes on counters, lighting up bridges, doing news stories, wearing orange for a day, buying a ribbon. Nothing was too much. And in most cases they offered more. They asked questions about Fragile X and were genuinely interested.

Already we've heard stories of chemists being asked more questions because our flyers were out, been approached by parents getting their kids tested, and been asked about what's happening next year. I've sat in a classroom and had grade 6 students engaged and asking insightful questions The parents of kids have told us they have had their kids come home and excitedly tell them all about FX. We've had a 9 year old making home made posters and googling to get more info. We've had countless conversations with people asking to know more, taking flyers and digging through their cupboards to find something orange.

This has been an inspiring month. All of you wonderful people have made me realise that all we have to do is speak to raise awareness. That our community is strong and the people of this country are compassionate and caring.

Thank you everyone.

www.fragilex.com.au

Fragile X Awareness month - Day 29

2016-07-29T12:12:00.000+10:00

This week has been the culmination of a wonderful project I've been working on this month with Merryn's school, Geebung State School. I was able to speak on assembly about FX, there was a story in the school newsletter, and today and yesterday we sold merchandise to raise funds for FXA. Finally students and teachers wore orange to school today and donated a gold coin for our Orange is in the Air Day.

I would like to thank the school principal, P&C, student council, OSHC, teachers, parents and students. Everyone was enthusiastic, supportive, helpful and generous.

An extra special shout out needs to go to Melissa Ashford, our P&C president, who donated her hand made, crocheted hearts and flowers to the fundraiser. Also the amazing kids from the student council who took on the task of selling merchandise and raffle tickets.

www.fragilex.org.au

Fragile X Awareness month - Day 28

2016-07-28T12:04:00.000+10:00

There are some things I've learnt about how to make our life as a Fragile X household run a bit more smoothly, here are 5 that come to mind:

1. It takes a lot to translate a thought into words and then say them. Just because the words don't come, or what is said doesn't make sense, doesn't meant the kids don't understand what I am saying.

2. 10 seconds - Give an instruction and then wait 10 seconds. It takes time to process a thought and figure out how to respond. If the instruction is being given over and over or more is being said that is just more noise to try to interpret.

3. For someone who is sensitive to sensory input it can really help to prepare before having to sit or think for a period of time. Hanging upside down, jumping, rolling in a blanket and getting deep pressure, swinging, all these things can help.

4. It's ok to use medication. There is a perception that medication to help with anxiety and mental health is somehow a weakness or there is something wrong with it. We don't deny a diabetic insulin, if you need help with cortisol and adrenalin levels etc, then just do what you need to do.

5. Ask a question 3 different ways. Often it's the last part of a sentence that makes sense. So if I'm asking 'do you want vegemite, peanut butter or honey?', then the kids will usually say honey at first. But if I change the order of the question and ask it a few different times, I get the actual answer.

www.fragilex.org.au

Fragile X Awareness month - Day 27

2016-07-27T11:57:00.000+10:00

Everyone has a different opinion about diagnosis. My personal opinion is diagnosis is a good thing. It allows you to find out more about the root cause of symptoms and issues which can help with treating them. It certainly impacts the way I parent my children. I am far more understanding of meltdowns, and other behaviours that could be perceived as 'bad behaviour'. I am now also able to understand a lot more about myself. I wish I'd known I had FX a long time ago, it would have helped me a lot.

Throughout the process of trying to find out what was happening with Connor (and later Merryn), getting a diagnosis and pursuing therapy and treatment I came across a lot of people who felt the opposite. People who felt I was 'labelling' my kids, putting them through unnecessary appointments, and that I was looking for something that wasn't there. Some of those people were Doctors.

In the end I trusted my instincts. I got my kids diagnosed, into programs and therapies, and while everything we've done hasn't been successful a lot of things have made a real difference. Without a diagnosis we wouldn't have been able to access a number of services that have helped us all.

I firmly believe the instincts of mum's should never be ignored and that we as women need to back ourselves. We should never let anyone tell us we are over reacting, we know our kids better than anyone else.

www.fragilex.org.au

Fragile X Awareness month - Day 26

2016-07-26T11:53:00.000+10:00

Recently at Merryn's verfication meeting the psychologist summed her up as having 'a complicated presentation'. If you look past the clinical wording, that really does sum up my little FX girl.

She's smart, but she struggles to understand new concepts. She's brave, but she is easily bought to tears or overwhelmed. She is loving and kind, but don't do things her way and she'll get very upset and cranky. She's outgoing and social, but she can also be painfully shy. And she can rival anyone in the meltdown stakes, when everything gets too much.

Like most FX girls, she doesn't really tick any boxes, she dances to the tune of her own kazoo. But most importantly of all, if you take the time, and get past the loud, crazy, off the wall girl, she presents to the world, you've found a really beautiful amazing little person.

Fragile X Awareness month - Day 25

2016-07-25T11:46:00.000+10:00

For a very long time we didn't leave the house much at all. We certainly didn't do much socialising. We became very isolated. When you have kids who are very sensitive to too much stimulation and parents who are sleep deprived, going out in public can get messy.

The problem is that's a very slippery slope. The kids aren't getting pushed to learn coping mechanisms and we parents start feeling very alone and depression isn't far behind. I didn't know that's what we were doing at the time, but I look back now and see the cave we built to hide in.

Thankfully today we've started to crawl back out of the cave. Finding other people with special needs kids to talk to is imperative. Well planned outings on a regular basis help the kids learn the skills to cope. Getting the kids into programs that are well supported but still get them mixing with people other than their parents (not something that stresses the kids out because that will destroy all the hard work). These are all vital things to do.

We have been able to take our kids out to restaurants, sit and eat a meal and enjoy ourselves. I'm not saying we linger for hours, but it certainly makes us feel a little more 'normal'. If you ever see us out at Bunnings or down the park, we are loud and chaotic, but we are getting out there. :)

www.fragilex.org.au

Fragile X Awareness month - Day 24

2016-07-24T11:36:00.000+10:00

Its's not always about Fragile X. Sometimes it's about those who don't have it. The silent, unsung heroes who love us, support us, find us exasperating and illogical. But despite all the challenges, the meltdowns by the kids and me (be under no illusions, us carriers are just as prone to sensory overload) I am very, very lucky to have a partner who has stayed.

We recently talked about what it's like for him to be a member of this family. As a father of three kids (2 with FX) and partner to a carrier he feels he is largely ignored. The primary focus is on the kids and all of the contact with therapists, doctors etc etc is usually done by me. This is because he works full time and can't usually be part of all those appointments.

No one ever asks him how he is. It never occurs to anyone to see if he's coping or if he needs help or advice. And as a man, he doesn't really know how to ask.

I hope this is something we can redress in the near future.

ww.fragilx.org.au

Fragile X Awareness month - Day 23

2016-07-23T11:25:00.000+10:00

Today I'm sharing a very beautiful video organised and starred in by a mum in Tasmania, Jo Ryan. She got the Launceston Town Hall lit up in orange for FX Awareness day. Her son was diagnosed with FX 25 years ago.

Fragile X Awareness Month - City of Launceston

Fragile X Awareness month - Day 22

2016-07-22T11:15:00.000+10:00

It's Fragile X Awareness Day!!!!!

Everyone is doing lots of fabulous orange things so a few of us FX families decided to join the fray.

Tonight we are rocking the orange cocktails and celebrating our FragileXedness. :D

Fragile X Awareness month - Day 21

2016-07-21T11:04:00.000+10:00

Not all Fragile X people have problems with sleep, but it is certainly quite common. My kids, of course, fall into the sleep problems category.

For the first 2 years of Connors life we didn't know we had Fragile X so I was just trying to figure out why he wouldn't sleep for more than 2 or 3 hour intervals. We spent a week in a sleep clinic, I tried every book, googled every strategy, I became a sleep guru. Anyone other than Connor could walk into his room and instantly fall into a coma. :)

Then Merryn was born and she did the same thing. Somewhere in there I completely lost my mind.
Finally after about 2 1/2 years of this we found out about another specialised children's sleep clinic, and after waiting the obligatory 6 months on the waiting list we staggered in. Well actually I staggered in, the kids as always were bouncing off the walls.

When you arrive at these clinics the first thing they do is get a junior Dr to do an interview with you. Essentially they go through a check list to see what you've tried so far. In my case I'd tried everything on their list infinitum. When the senior Dr finally came in the hand over was brief and she turned to me and said, 'Well I don't usually recommend medication on the first visit, but you have already tried everything else.'.

So for the past 4 years we've been using melatonin every night to get them to sleep. Which now works pretty well. As for staying asleep, well even the experts have given up on that. Apparently some people just don't need a lot of sleep (I've been told). So the day starts somewhere between 2am and 5am, and if we're lucky there weren't any other wake ups earlier.

www.fragilex.org.au

Fragile X Awareness month - Day 20

2016-07-20T10:40:00.000+10:00

I have to apologise but I need to do one more post on education. It's top of mind for me right now because Merryn is in Prep. This is the year they do Verification to assess if a child needs additional support for the next 6 years of primary school. The process has been ongoing all year but today I sat in a room with the guidance officer, speech therapist, Special Education Unit co-ordinater, a child psychologist I'd bought in and Merryn's teacher. I won't bore you with details, but essentially this is the where things sit right now.

Merryn's teacher has done a number of reports and verbally expressed the issues and needs Merryn has. She is very concerned that without additional support Merryn will not be able to keep up at school. I have provided a number of reports showing Merryn's diagnosis of Fragile X and it's impact on her, as well as verbally explaining her difficulties with grasping concepts, socialisation etc.

Unfortunately that is all irrelevant in our education system. Merryn did a 30min test, with a person she'd never met before, in a quiet room, that was all picture based. Based on that a score was given and it showed she was fine. So now, the only way I can get my daughter the assistance she needs to be educated is to get her an Autism diagnosis........

Days like these, I don't think our government actually has any interest at all in educating children with additional needs.

http://fragilex.org.au

Fragile X Awareness month - Day 19

2016-07-19T13:39:00.000+10:00

Everyone has their opinions about how other people should raise their families, how many kids they should have; there is nothing that is off limits. I had people make it clear they thought I shouldn't have had Merryn after all our difficulties with Connor and the comments about having Liam, well lets just say there are people who no longer speak to us at all.

I however think things worked out how they were meant to. All of my children drive each other crazy (and me in the process) arguing and fighting over any little thing. The noise in this house on any given day can be deafening. However, they also adore each other. The acts of love and kindness are just as frequent as the arguments and they are genuinely happy to see each other at the end of the school day.

They also learn a lot from each other. I see Connor learning so much from his brother and sister, that he would never get as an only child. I was made to feel like I was failing him by not focusing just on him, but that's not how it's turned out. All our kids get cuddles and love from their parents, but they also have a bond with their siblings. Just because a child has special needs, does not mean they don't need family and I think that is something that gets lost in all the clinical analysis.

For us, our little family may be chaotic and very full on, but we have each other and that is priceless.

http://fragilex.org.au

Fragile X Awareness month - Day 18

2016-07-18T12:40:00.000+10:00

There have been a lot of tears in the years since the kids got diagnosed and we started to understand more about FX. I joined Facebook pages and talked to other families all over the world, we went to conferences and found specialists. We went to a lot of counseling to figure out how to survive the stress and deal with knowing we had kids with disability. I grieved for the future I thought my kids would have, playing sport, going to uni, marriage, kids. And panicked over how to plan for when we won't be here to help them navigate a world that isn't built for kids like ours. It's been a journey and we are only 7 years in.

But whenever I feel at my lowest, whenever I feel like we've been dealt too much, whenever I don't think I can cope with anymore, the universe reminds me to be grateful. Tonight I saw a policeman in the US with a beautiful kind heart had been shot and killed. I saw a gorgeous baby with brain cancer and his brave courageous mum.....and I cried.

Then I got to go into Connors room and cuddle up with him while he fell asleep. FX is hard, our days are long and not always easy, but we will get to have a full life with our kids and so much love.

http://fragilex.org.au

Fragile X Awareness month - Day 17

2016-07-17T20:42:00.000+10:00

I'd like to dedicate today's post to a special little girl, Paige Miller. She is a classmate of my niece and when she heard about our awareness campaign she hounded her mother to be allowed to come to the Story Bridge flash mob.

Paige is only 9 years old, but she wanted to support Fragile X awareness and she even made a poster. You will see her in the pic holding up her poster.

Thank you Paige! 💖🎗💖

(In case you're wondering, her family couldn't come hence her mentioning joining Shelley's)

Fragile X Awareness month - Day 16

2016-07-16T19:41:00.000+10:00

Well we are halfway through the month and I must say it's been huge so far.

I hope the word is getting out there! :) Tonight the Story and Victoria Bridges lit up orange in Brisbane in honour of Fragile X. A few of us braved the rain to get some pics.

Thank you to those who made it out in the cold and rain.

Fragile X Awareness month - Day 15

2016-07-15T17:13:00.000+10:00

If you want to find out more about FX you can go to the Fragile X Association of Australia website. I will be sharing our families story.

FXTAS was first discovered in 2001. Carriers had been noticing the onset of symptoms for quite some time, but it took some time to convince the medical fraternity to look into it. Once they did, they discovered carriers were being wrongly diagnosed with things like Parkinsons disease, senile dementia or Alzheimers disease.

It is important to have the correct diagnosis, some treatments for those diseases can be harmful to FXTAS sufferers and others are completely ineffective.

Rosemarie has continued to decline since she was diagnosed about 5 years ago. She is now in an aged care home (at the age of 64), she needs help with all aspects of her care and has difficulty remembering things and making decisions. She cannot walk for very long distances and is quite shaky on her feet.

It is quite a significant change from the woman she once was. A successful helicopter pilot, business owner and author.

http://fragilex.org.au/what-is-fragile-x/carriers/fxtas/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904666/

Fragile X Awareness month - Day 14

2016-07-14T20:28:00.001+10:00

If you want to find out more about FX you can go to the Fragile X Association of Australia website. I will be sharing our families story.

Finding the right school for a child with additional needs can be a bit of a complicated process. Now I know the Government will tell you that all schools are the same and I know that the 'policy' is that all State Schools must take a child if asked (at one school I could see the panic in their eyes as they nodded and smiled). However the reality is very different.

When we started to look at school options for Connor we really had no idea what we were doing. So we started asking for advice, and the more we asked the more confusing it got. On one end of the spectrum were the people following the 'policy' line which is all children should go to mainstream school. Then there were the people who wouldn't say anything because teachers and administrators aren't 'allowed' to give advice.

The final fly in the ointment is the special school criteria. In a nutshell you have to have an IQ below a certain level. The Government have written the guidelines so they can change that level whenever they want. They take nothing, absolutely nothing else into consideration. That is why distance education enrolment has gone through the roof. Parents are having to home school so their kids can get an education and don't come home every day physically and emotionally wrecked.

In the end I went into panic mode and at the last minute we kept him back for another year of Kindy. Nothing seemed right, we'd gone to a number of school interviews, done numerous assessments and no one would tell us if he met special school criteria. With no one able or prepared to help us we deferred the decision for a year.

The extra year was the best thing we could have done. On one hand it gave Connor an extra year to mature and on the other hand it gave us another year to do more research. In the end we were able to get him into a special school. The small class size, supportive environment and individually designed education plans are exactly what he needs.

Connor is now in the equivalent of year 1. Merryn is one year behind in prep and I am able to do her homework with him. He can't do all of it, but he is making progress. If he had been in a classroom with 25 other kids, there is no way he would be where he is now, or that he would be loving school so much.

http://fragilex.org.au

Fragile X Awareness month - Day 13

2016-07-14T14:30:00.001+10:00

If you want to find out more about FX you can go to the Fragile X Association of Australia website. I will be sharing our families story.

Being a carrier and mum to an FX child, an Aspergers child and also another beautiful little girl would be hard enough for anyone. But Shelley has an added level of difficulty, she is a single mum.

The rate of divorce is proportionally higher amongst families with disability. The stresses are enormous and it is often difficult for parents to face the idea that they have a child with a disability. There are many who just walk away or are unable to cope.

For Shelley the two hourly peg feeds for Bryn, the home schooling for Rohan (who can't cope in an education system hopelessly unprepared to deal with children with additional needs) and raising her daughter are all on her shoulders. The days are long and relentless with little time to find any personal space.

http://fragilex.org.au

Fragile X Awareness month - Day 12

2016-07-14T14:28:00.002+10:00

If you want to find out more about FX you can go to the Fragile X Association of Australia website. I will be sharing our families story.

I'm so excited about a story I read this morning that today's post is sharing a research project in the US. The dream in my family is for a cure. We don't expect it to miraculously fix everything in ourselves or our children but we do hope that it could give our kids an easier life. One where everyday isn't a struggle with anxiety and a brain with wildly firing synapses.

What I love about this story is they aren't saying IF they find a cure, they are saying WHEN: http://www.fraxa.org/cornell-researcher-jaffrey-looks-rest…/