GENETIC TESTING IS BACK !

Genetic testing came back from America yesterday too. This is different to the enzyme test previously done.

This test was to see if they could find the specific ADA genetic mutation. Sometimes they cannot find it or it has not been reported before . In our case a few other cases have been reported with our same mutation.

Now for those who wish they were doctors and or who understand genetics, I have included below the doctors email re this. From my research into the genetics part of it I have identified four other children ( Worldwide) that carry the exact same genetic coding we have for ADA deficiency. Pretty scary stuff - although I cannot say for sure that these would be the only 4 others,but it just shows how rare this thing is. We knew that anyway given Harrison being only the fourth child diagnosed in Australia with ADA deficiency in the last 10 or 15 years, but this sort of confirms it for me.

The number 4 seems to be a common theme here - Harrison is my 4th Child, he is the 4th diagnosed in Australia with ADA-SCID, and only 4 others I can find in the world with the same genetic mutation, and according to statistics we have a 1 in 4 chance of having a child with ADA deficiency. Very Scary Stuff!!!

I am going to ask for a more detailed breakdown of what this means exactly when we visit the hospital next week - and of course Google myself to death to find answers to my questions that I can then convert the below to normal speak - for translation to you all. :)

Email detail from Doctors: "Harrison (patient) is homozygous for the A329V mutation in exon 11 (c.986C>T); both of his parents and his sister Ella are carriers for this mutation.

A329V has occurred in a number of ADA deficient patients with SCID,. When expressed in E. coli, human ADA cDNA carrying A329V has about 0.05% of ADA activity expressed by the wild type cDNA (Arredondo Vega et al AmJ Hum Genet 63:1049, 1998). "

An Exon is a very small part of a gene. It is the part that holds the particular coding if you like for your genetic makeup. They are numbered and so that is how the genetics Doctors can identify where a particular trait comes from – like this ADA gene. So I think it goes that - in Harrison’s case on chromosome 20 is where the ADA gene lives. The mutation that causes the ADA deficiency appears on Exon 11 within that ADA gene. Because of this mutation, (which both Scott I carry), if a child is born who gets both sets of these mutated genes, then they have the disorder. Harrison is this child. Luckily our only child AFFECTED. Ella carries the disorder ( and so only got 1 set of the mutation and the other set she got is OK) and it looks as if Marlie & Sterling are ok and probably not carriers.

It is known as autosomal recessive genetic disorder. It is a genetic trait we both carry - with no prior family history on either side, so we are just unlucky that Harrison has this - but ... We as a family are very lucky that all kids aren’t affected – as we have a 1 in 4 chance of having a child with ADA deficiency, the way genetics really works means that ALL of the kids could have been affected. We just got lucky. Like we got lucky that Harrison and Ella were a perfect match for Bone Marrow.

I have since found out that 80% of patients who need a bone marrow transplant don't end up getting one from a sibling. So we are truly very lucky indeed.

The World According to Marlie

I thought I would re-introduce you to my 5 year old, Marlie.

She came up with a whole new baby theory yesterday - and it is well worth sharing :)

Marlie told me and I quote: "You know when you go out for dinner, and that's when you get big and fat and pregnant."

All I could think was GAWD HELP ME!! If that is how easy it is I am in trouble !! ha ha - Scott & I went to dinner when Harrison got home?

I just couldn't help adding this - ah the mind of a 5 year old. So uncomplicated :)

I have added footage of Marlie & Sterling dancing to "That's Gold" - she is unique - ballet dancing at that!

Harrison's Development

Well last week Harrison's eyes started to act up again. And I saw a friends baby who is younger and doing probably the same things as Harrison. So I was a little depressed - cause its that next step - seeing the reality of how Harrison is not as far developed as he should be for his age. I am none the less very proud of my little man. He is very cheeky, Many Many smiles and coos and gas - however this aspect is not so quite and cute - rather more loud and demanding - like HELLOOOOOO Look at me!! He was never destined to be a wall flower though, that and we have the loudest other 3 children too - so he will definitely be loud anyway - bad hearing or not!! Lol

So I popped a pic of Harrison trying to sit up - He is clever enough now that he wriggles down the bouncer gets his bum on the floor and then wriggles enough that he can almost sit up. Not very well - cause literally after this picture was taken he slide down to the left side of the bouncer, and then had a wriggle on the floor, but he is doing it! I am happy that he does this much.

Also he has worked out how to roll from one side to the other . Mostly it is from lifting up his legs and his chubby tummy helps the whole rolling thing happen, but he is trying - and sometimes ends up doing a little circle work and moving to a slightly different section of his play mat.

What a little star!! And to prove he is smiling - and chatting here is another pic. He most especially likes a chat at 4 am .. Great for him - crap for me - cause by the time he finishes his conversation, feeds, has his bum changed and then gets back to bed its nearly 5am and I have only 1 more hour's sleep then I get up to Marlie & Sterling ( the early risers of the family :) )

What else is news.. Well I'll update his weight in a couple days once he sees the pediatrician, then next week we go down for the next Intragam and the all important hearing test. It'll be good to have some answers as to how his hearing is.

Marlie sterling and Ella are really doing well now I am home ans a bit more settled, and they are listening to me (Well most of the time) when they are asked to do something - like cleaning away toys :) I am proud of them though as they really have had to take a back seat to Harrison - and have done it with very little complaint.

Footy Show- That's Gold! segment on Harrison

We had a segment on Nine's Footy Show about Harrison - I am trying to get a copy to load onto this site - however, I can tell you they did a lovely job - It may even still be on their website.

Now I know the quality isn't the best - and we are getting better copies done - but for those who missed it go to the following link if you 'd like to see it...

That's Gold Grand final segment

What a wonderful job those guys do and we were very privileged to be one of the selected families.

It's still hard to believe we are a family that need help. But help we do need, and the footy show certainly did this!

A big hug to The Chief and to the key organiser for this segment Danny Keen. And to nine's footy show & NIB.

Harrison's Eyes

Harrison's eyes have gone funny again. This is what they (the Doctors) call nystagmus and it is getting worse again. If you try to do what he does, you will find it most disorienting, and he really does struggle with it from time to time. But he is still soooo cute - so I thought I would start to share some video of him. I hope you can all see it ok. (And yes I am VERY biased as to just how cute he is - but I really don't care!!!

Eels Pictures - Finally !! Us and Harrison with the Eels players :)

I finally got the Eels Pictures downloaded - There they all are ..

This is the photo we are using for the fundraising. It reminds me every time I see it just how sick he was then and how careful we have to be not to get back to that. I also see how far he has come. He was sitting on my chest today while I laid on my back, and he was looking at me while I blew raspberries on his feet and then he'd crack up laughing. Such a gorgeous kid. How lucky I am to have him. And Scott has become so much more comfortable picking him up now too. He'll not worry so much about the central line anymore and grab him for a hug. I even got out a couple of times the last week - on my birthday no less!!

I am back off to hospital with Harrison this week. IVIG time again, and see the "cast of thousands" as I like to call it , when we get there. Harrison is doing pretty well, although I cannot keep food up to him , and seriously for the amount the little man has he should be at least double the size he is.

I started solids with him this week. Which makes no difference - except to the output of poos. They have increased too!!

I sat helping last weekend with our first fundraising raffle at the football. So many people there with babies in prams, and most of them bigger than Harrison yet half his age. I really thought he was holding his own in terms of looking his age, but I guess I am used to seeing what Harrison looks like now. He is still so little - my tiny man!! :)

But it makes me wonder at how much I took for granted before with the other kids. I put them in the pram walked around the streets and shops with them and never thought twice about it. Now it is careful planning or make a call to someone to get me something I am in short supply of. I cannot wait to be able to just go for a walk with Harrison in the pram and not worry that someone will sneeze on him and make him sick again.

and even though he has 10% of his cells showing as female cells there is no signs of immune function. He has been putting weight on at the expense of me feeding him 2 and a half hourly and it breaks my heart that I cannot take him with me every where I go - I hate leaving him behind. I also have found how bad I am at the moment emotionally. I find talking to strangers about him hard, and I really worry how he'll be long term. Those test results from the US have still got me in a knot. Luckily we do go back to hospital this week - I have a list of questions to ask the doctors when I get there.

Harrison will be six months old soon - and he is a little behind in his development. Being home may be driving me nuts - but I am thankful I am home. I have said bugger off to the housework - eventually the clothes will get put away - but for now I am enjoying the kids, and their new things they do - and them with Harrison, although they still want to pick him up, at least he is holding his head just slightly better which is enough that I can feel more comfy with them "having a turn" with Harrison ( or for those un-initiated with this "having a turn" it means having a cuddle). Such a great fight solver that one. All I say is who wants a turn of Harrison - Fighting all stops - well at least about the toy they were fighting over, because then its a tackle-a-thon to the lounge to see who gets a "turn" first!

Progress

I thought I'd add a cute pic of the kids - they have been so good this week, even with me being a cranky pants!!

Well this has been an interesting week. We saw the pediatrician on Monday, then the community nurse on Wednesday, by Thursday Harrison had developed a cold.
So he is ok, but has a runny nose and a cough. I called Westmead Childrens and spoke to Sam, (Dr Sam Mehr ) and they are happy to watch Harrison, but any development at all and I call back down to them and discuss.

As I said in the last blog Harrison now has a 10% count of Female cells which should mean he has something there that may fight off this virus he has. He already has Bactrim antibiotic which he takes daily to ward off any chest infections. So we will see how things go with this.

I also changed Harrison's central line dressing. I did it last week too - while it did the job it looked all wrinkly. This week- it looks so much better, I felt like a real pro!!!

Here's a pic of that too...

We also got told about some of the enzyme tests coming back from the USA that were done in line with the genetic testing they are doing for us too. This enzyme count confirmed what we already thought. Scott & I carry the rotten ADA gene!! Ella is a carrier (and so given Sterling's low counts of ADA enzyme he would be too) - but Marlie is not - her count is 1.6 aka perfectly normal and Harrison is ADA deficient.
They also tested the toxicity levels of Harrison, which is an indicator of sorts for how badly affected these kids are. Harrison's toxic count was quite high, and as much of the literature I have read indicates- it is these kids that then go on to have the neurological problems. So we knew this already with the eye problems and hearing loss, but this is a bit more of a complication - we will now have to wait and see exactly what Harrison has in stall for us!!

The cold will certainly give us a clue if things are moving though, as we hope he'll be able to fight it off. ( and we hope that its not some bacterial infection just starting!! )

Anyway that's about it this week. That and I had a chat to John Laws about Harrison praising the hospitals and staff that gave us such incredible care, and the difficulty we find ourselves in without much help from Centrelink. I was very nervous talking to him but I think it helped, and if in the long run it benefits Harrison then I would do it again in a heart beat.

Ciao

Reality

Forgive the dark nature of this post. I am struggling with life this week. The pressures of being at home full time are starting to mount. The only bright point in all of this is that Harrison's cell count at 30 days post transplant showed signs of female cells - about 10 % of his blood count in fact. This is pretty damn good, and means that the bone marrow is grafting- now we wait to see exactly how well this is.

The reality of life has hit home. Yesterday I went to see the pediatrician. Dr Buckmaster - a god in his own right, as far as I am concerned. He did such an amazing job with caring for Harrison and getting him transferred to Westmead. I really feel that he saved Harrison's life. I was really emotional about seeing him. At the end of my appointment with him I told him thank you - for all you did in saving Harrison's life and being so thorough, because he wouldn't be here now if you hadn't done what you did. I then cried all the way home. You see, Dr Buckmaster was quite real with me - and we talked about Occupational therapy and physiotherapy and setting up the things Harrison will need. Harrison's eyes are also doing a new side to side movement as well as the up and down stuff too now. I cry because I don't know why this is happening, and if this is going to be a serious problem in the future. I cry because at the moment life seems a little hopeless. I cry for the life I once had, without the massive burden we now face financially.

But it is not just that that I am emotional about. Giving up work is hard, not that I value work over the kids, but that work is my time, selfish - yes, but I value the time and space away from the kids, house and Scott to just be me. I miss not being out there and earning my income. Work has always been my tool for coping with life.

Whenever I got stressed out or had a problem - I'd work. Now that avenue is no longer an option. I have had to give up work, purely to care for Harrison. It seems strange that I should miss this so much, and it pales in comparison to being with my son but it was my outlet. That and I feel that I'm not contributing as much financially now, which I have always been able to do.

Scott's income alone is not enough to support us and when my maternity leave entitlements are done, well that's just it. No more help. Harrison has a few problems, yet he is not considered to be sick enough that we get Carer's Payment. However- he can't leave the house, has multiple little side issues and we have no other means of an income.

Further adding to my depressed state is the fact that we will have to sell the car. This puts us out of pocket just another couple of thousand dollars, that we also don't have - and leaves us without a car. They joy of the novated lease was great - while I was still working. No income means no money to pay off a car. But what do we do? And I am concerned that the fundraising that is happening won't quite be enough to cover Harrison's medical bills as time goes on.

I am so scared about the future. I don't want to lose our family home, but if interest rates keep rising and we have only 1 income we may well lose the house. No house, no car and a sick child.

It really sucks that if a person sticks a needle in their arm - the government bend over backwards to help them out, but those in genuine need? Not a hope.

Then add my stupid sister to this already difficult equation. She decides to run off the rails now. Why, probably cause the focus of attention is no longer on her. So instead of stepping up to the plate, she stuffs things up completely. And I feel guilty because Mum, while she is here helping me, then has Hope to deal with. Mum does so much for us - practically putting her life on hold to be here helping us, and I really love her being here and helping, yet I feel that I would happily throttle my sister right now for giving Mum so much extra stress. So instead of falling apart - like I truly want to do at the moment, I don't - Because Mum has enough to deal with right now.

There are days, where I wish that I could also choose my family as I can choose my friends. It would soooo make life much , much more simple.

Making Friends

We have been put in contact with another family in Queensland (QLD). The IDF of Australia are a foundation for parents and families to have contact with like families suffering the same disorders. Our Harrison as you know has ADA-SCID, while Harrison from QLD has 'IL7 Alpha Receptor Deficiency'. Another form of SCID and also a genetic inheritance.

We were lucky enough to meet and I have had the absolute pleasure of speaking to Tammy, Harrison's mum (Harrison is pictured left this is from around the time when he was diagnosed at around 11-12 months old. ) Strangely yes, he is a Harrison too.. and it gets even more coincidental that QLD Harrison's dad (Ivan) works for a telecommunications company as does Scott.

Our little friend left has had a BMT also, and was so much sicker than our Harrison, and really showed even on his sickest days strength and courage. He is smiling in just about every photo Tammy has sent me. I thought it would be great to put them on this site as encouragement. You see, this little boy went through an amazing time, and was critically ill for a time, but has pulled through remarkably well. He is now a 2 year old boy, who looks like any other, attending preschool too!! I am so excited by this - It gives me hope that our Harrison will do just as well.

To show you how well he is doing...















He's a picture of health here, playing and with his brothers.

What an inspiration and reminder what a lot of positivity can do to help along a situation.

I find it so comforting to have another family to speak to who have been through more than we have, but also through so much of the same experiences. What a lovely and amazing world we live in.

I look forward to a long and happy new friendship with little Harrison and his family and I wish them all the very best for the future.

Many thanks to Tammy who allowed me to pop a picture or two of Harrison on this site, such a valuable thing to do!!