Thursday 29 March 2012

Connor's Bum

My kids and I have walked under a ladder, cracked a mirror and crossed the path of a black cat it would seem. Today Connor has suddenly started pooing acid (no other way to describe it) again. His entire groin region is red raw. I have no idea what's suddenly caused this latest bout for the poor little love but I can't believe it's happened today of all days. If a giant purple bunny flying a green spaceship crashed into our house right now, I wouldn't be surprised.

Merryn's Results Are In

I mentioned in my post yesterday that I hoped that bus was finished backing over the top of me.  This morning it turns out it hasn't.  Merryn's results have come back positive for Fragile X.

Her results show 30 on one X and 550 on the other.  I had hoped she was just a pre-mutation like me, after the last lot of results, but she isn't, she's full Fragile X.

I feel.....I don't even know how I feel.  I'm still in shock right now, this is so unexpected.  She is such a lovely little thing and she has developed and progressed so well.  Recently I've been worried about the fact that she doesn't have any words, but I figured I was just paranoid.  I now remember back to when Connor was 12 months old.  At that stage it looked to me like he was hitting most of his milestones too.  They do say that it is hard to pick up in the first 12 months as development is so variable.

So now what.....I don't know.....cuddle my kids and cry today and pick myself up off the floor tomorrow.


Wednesday 28 March 2012

Having a Vent

I should start this post with a warning to say that this is nothing more than me venting about how rough I feel the universe is being right now.  It is a self indulgence so I can just get it all out.  I think it's good to do that sometimes and besides, no one HAS to read it.

So it all started  about two and a half weeks ago. We got back from a lovely weekend away at the beach on the Sunday arvo and we were on the couch watching some TV. It was about 8pm and I decided I needed a shower and to go to bed. I usually go to bed between 8pm and 9:30pm because I am up for so much of the night with the kids.  This is when I discovered welts on my tummy and legs. Within an hour they had tripled in size and I was in emergency.  During the night they covered my entire body and initially resisted the drugs to stop their progress.  It was all very itchy and uncomfortable.  About 5am I finally got home, with it all pretty much gone and no real explanation about what had happened.

That week I was up every night with the kids who had both developed colds.  Both of them have stamina and can go for hours, even when sick, so I just had to ride it out.

One week and one day later I was back in emergency with savage gastro.  They kept me in emergency on a drip all night because my temp and heart rate wouldn't come down.  By 7am and after 3 bags of fluids and drugs to stop the gastro I finally got out of there feeling like I had been hit by a bus.  That lasted for a few days while I recovered from the gastro and in the meantime Merryn got it too.  Connor thankfully seemed to be only a bit off colour, although he was very manic.

We hadn't even recovered from that a few days later when another cold hit.  All three of us got it but I was hit hardest.

So as I sit here, we are all on antibiotics for ear infections, everyone sounds like a Dalek to me, I have a hacking cough and have lost my voice and the bus just keeps driving over me and backing up.  And of course, neither of my kids is sleeping.

And so endeth my vent, with the heartfelt hope that the universe is done with me for a while and the bus will move on.

Thursday 22 March 2012

Learning To Wave

Connor doesn't wave. We've tried to teach him but he just won't do it. He looks, he smiles, but he won't voluntarily lift up his arm and wave.

 If you think about it waving is a kind of wishy washy thing to do and for a little boy who doesn't really know where his body is in the world it wouldn't make any sense. He needs loud noise, firm pressure and sharp movements.

That's why recently I started asking him to high five everyone as they're leaving. It's something he knows how to do and it's is a much clearer action.

Today I think he showed he gets it!

 We were at the doctors and I told him it was time to go. He smiled at me, walked over to the doctor, picked her hand up out of her lap and dropped it, then walked to the door and tried to open it. He knew what I meant and knew what to do. It was so cool!

 I'm learning a lot about my boy as we go along and moments like today remind me to pay attention and speak HIS language. He taught me that a long time ago in Ellen Barron Family Centre when we were doing sleep traing (I tell that story on the 7 month to 12 months page), sometimes I just need a reminder.

Monday 19 March 2012

Spinning 2

I've taken a second video of Connor spinning, but this time he is spinning with his little buddy Bryn. Bryn is my sisters youngest son, he was nearly two here and also has Fragile X. You will see at one point Connor yells loudly and Bryn starts to cry. He is very sensitive to the world around him and finds his manic cousin a bit hard to handle at times, even though they love each other and usually gravitate to the same toy and spot in the lounge room.

 

Sleep Clinic - Visit 2

We had Connor's follow up visit to the sleep clinic last week (last week was crazy so I'm only just catching up with the blog this week, sorry).  It went really well.

My petal is reacting well to the Melatonin.  He's starting to sleep less during that day, but I think that's because his nights are so much better.  He doesn't take 2.5 hours and 1.5 litres of milk to get to sleep every night anymore and he hasn't had night terrors in weeks.

So the big problem, I told the doctor, is he still wakes up at least 2 or 3 nights a week at about 3am and can't be resettled.  He then yells and cries and bashes his cot until dawn.  Back before Merryn I would have just slept the rest of the night in the armchair holding him and soothing him.  But now I have her waking multiple times every night so I can't just disappear into his room and not come out for the rest of the night.

No problem she says, let's try this:
   1. Try giving him a tiny bit more melatonin around 11pm to top him up.  The drops don't last in the body more than about 3 hours, so that might just give him the extra he needs to get through the night.
   2. If that doesn't work (as she noted Connor is a VERY light sleeper it might just wake him up and cause more trouble than it fixes) then we can go to slow release tablets.  They last all night and we could just feed them to him in some yoghurt.  Of course this wonderful solution has a downside, the tablets aren't on the PBS, so it would cost us the debt of a small foreign country to pay for it.
  3. Try putting him to bed a bit later.  He might just need a bit less sleep.

So, we have a plan and over the next two months we will be trying that out to see if we can overcome the final hurdle in the great Connor sleeping conundrum.

*-----*-----*-----*-----*-----*-----*-----*-----*-----*-----*

As a note, the doctor also said if I haven't sorted Merryn by the time I come back in with Connor she will see her too.  Sometimes the low Melatonin levels can run in families.  I thought that was VERY nice of her and it gives me a backup if I am still stuck with her by then.

A Health Warning For Mums

Just recently a doctor recommended I go and see a specialist in Life Style and Anti-Aging Medicine.  I see you rolling your eyes.....'oh no, not that quackery'.....but the recommendation was prompted by my exhaustion, slipping memory, difficulty making decisions and focusing, depression, anxiety, difficulty loosing weight etc.  And it turns out this kind of doctor looks not only at the external stuff i.e. cosmetic surgery, but also the internal stuff i.e. calcium levels, iron etc.  So I went along and had a chat, took the little form into QML and had half the blood from my body drained into little vials.

Last weekend I headed back in to see if he'd found anything of significance.

He sat across from me with about 6 pages of results and talked about how my iron, thyroid, calcium etc, etc were all great.  I was healthy as a horse.....except for one little thing, my testosterone levels were worse than that of an 88 year old woman!  To make matters worse, my DHEA or 'lead' as he put it, that the body uses to make the testosterone 'bullets' (he's a big Scottish guy with a sense of humour) was also critically low.

This explained everything I had been experiencing for such a long period of time.  And the cause, well since we knew that I was generally a very healthy person it all comes down to stress and lack of sleep over an extended period of time.  He said I have Chronic Stress.  Your body isn't designed to cope with stress that never lets up for years on end.  It's designed to cope with the Saber Tooth Tiger that raids the village and eats your neighbour (once again the doctors words) while you run away and then going back to sitting by the fire.  The body also isn't designed to go for years on end with only 1 and 2 hour blocks of sleep here and there.  It needs 2 x 3.5 hour blocks of sleep to allow your body to go into a deep sleep, repair itself and manufacture those 'bullets'.

So where does that leave me.  Well firstly I need more sleep.....yeah I know, I didn't need a blood test to tell me that.  I also need to try to find a way to reduce stress....yep still no shock there.  But I also need to try a couple of medical interventions, one is I can take DHEA and the other is Melatonin (yep, the same thing I'm giving Connor).  The DHEA will give my body a hand with the raw materials it needs and the Melatonin will help me get into a nice deep sleep so I can get that factory out of cobwebs.

Only one little problem.  Now I have to give up breast feeding my Merryn if I want to start the treatment.  After the fight I lost to breast feed Connor, giving that up isn't quite as easy as you'd think.  Just another thing to get my head around (I will, but as I said to my sister, just not in the next 2 days).  BUT....I have some answers AND I have a strategy now.  And that is a step in the right direction.

I've put a snippet of information below about testosterone for women.  Look after yourselves ladies, we are often the glue that keeps our families going.  And beside all that, we deserve a little TLC.

What Testosterone Does For You

Testosterone conveys powerful anti-aging effects. It turns fat into muscle, keeps skin supple, increases bone mineral density, gives us positive mood, and boosts our ability to handle stress. It supports cognitive functioning, and keeps the liver and blood vessels clean. Low testosterone levels have been associated with heart attack, Alzheimer's disease, osteoporosis, and depression. If you are freezing cold all the time and your thyroid levels are adequate, you are probably low on testosterone. For women, a little bit of testosterone can go a long way in improving looks, figure, energy level, outlook on life, enjoyment of living, sex appeal and sexual fulfillment.

Some signs of low testosterone in women are:

  • Decreased energy and sense of well being
  • Decreased motivation
  • Decreased interest in sex Sexual dysfunction
  • Increased feeling of fatigue
  • Gains in bodyfat levels

Friday 9 March 2012

DVD Update

The DVD is done!

The Fragile X Association of Australia is putting it up on the internet with their next newsletter, so as soon as they've done that I'll put the link up.

I hope this DVD can spread the word about Fragile X and help educate more health professionals.  We have certainly been met with a lot of blank stares and both my sister and I saw a LOT of doctors before I found one who even tested for it.  Hopefully it will also help parents to know what to look for too, so they can ask for the test to be done if they are suspicious.

Connor on the cover of the DVD


Tuesday 6 March 2012

Sleep and My State of Mind

Sleep is a theme throughout my blog.  As you would have noticed there is not much of it had in this house between Connor and Merryn.

I don't think I really understood what it was doing to me and my state of mind until I got a few nights of reasonable sleep (only a few wake ups and blocks of at least two hours consecutive sleep).  On the days after those nights I can cope with anything, I have infinite patience and nothing the kids does bugs me.  But on the days after I've had only a few hours broken sleep I have no reserves at all.  I snap at the kids over everything, Connor and his noises and mannerisms drive me nuts and I get absolutely nothing but the bare basics of food and nappies done.

This may all make perfect sense to the outside observer but to me here in the middle of it all those days just feel like I'm being a bad mother.  I feel guilty for getting mad at the kids and start waiting for child services to arrive on my doorstep after the neighbours have rung to report me for yelling at them.

I guess it just highlights how important it is for us to get the sleep issues fixed that Connor (and Merryn) has.  If I feel out of sorts and unable to cope with my day, how must he feel?  How can he learn and grow when he is exhausted AND stressed out by his mothers behaviour.  The three of us need to get this problem sorted in the interest of all our wellbeing.  I'm quite sure Andrew will be thrilled to have a happy home to come back to as well.  :)

Monday 5 March 2012

Mental Retardation

Mental retardation is one of the most common side effects of Fragile X Syndrome. The lack of FMRP during brain development means our babies don't get to meet their intellectual potential. This thought messes with my head and breaks my heart. I watch Connor flap, and spin, and shout, fail to use words, and struggle to socialise and I'm fearful of how retarded he is going to be and what that means for his future and, frankly, mine. Then every now and then he shows me there is more to him than it appears from the outside. Last night I needed to put his baby sister to bed and he was playing in the hall by her door. I asked him to take his toys and go and play with daddy in the lounge room. I didn't expect him to understand but I always explain what I want to him. I like to speak to him like I would an adult it seems like the right thing to do. I was also hoping daddy would hear and come and grab him. Instead, after a moment to process my words, he picked up his truck and headed to the lounge room. I was very proud of him and it made me think I should make sure I'm careful what I say. He may not speak but his comprehension is obviously getting better by the day.