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!!!