PGD/IVF - where to begin?

Not sure if this is in the right spot.. so mods, feel free to move!

DP and I have a slight spanner in the works for our TTC journey. Well a big one if you think about it really. Not really sure why we hadn't considered it earlier - swept up in the excitement of it all!

DP's sister passed away at 15 months old from muscular dystrophy. Those who have known me a while on bb will remember me asking about PGD years ago, because my uncle has muscular dystrophy. That means it is in both mine and DP's gene pools.

Neither of us know if we are carriers, so it seems natural and responsible that we investgate this further.

I was concerned years ago when I was with my ex-H as to whether I may be a carrier, but never went through to testing because my relationship with my ex-H broke down and ended. I haven't thought much about it since. It could be very likely that I am not a carrier, my uncle being the one affected - but the chance is still there.

DP's chances are higher, due to the fact it was passed onto his sister.

DP and I were talking last night and he mentioned it and we both agreed we should at least consult someone. Not getting crazy worried or anything, but definitely think it's worth investigating.

I have emailed Melbourne IVF about genetic counselling to find out what we need to do with our GP first before getting a referral. They may say its nothing to worry about, or we may get tested and find that we both aren't carriers. Knowing is better than not knowing in this case I think - and it should just be a simple matter of a few blood tests.

Would love to know others experiences!!

You can just organise a blood test for both of you through your GP. Or talk to a genetic counsellor at VGCS. They have offices at RWH and Monash that I know of. While you're at it, it may be worth getting tested for cystic fibrosis carrier status. I know some OBs like Lionel Steinberg offer a mouth swab test that covers a few common genetic issues like CF.

I've been tested for things like CF. doing it privately can cost. If you can get the test through VGCS, it may not cost as much.

Genetic testing is the way to go. If neither of you are carriers, then you have no more of a chance to pass anything on than anyone else. PGD may no be needed at all :) If PGD is required, then you can discuss that with your FS. Until then, I'd focus on the genetic counselling :)

I'd just go straight to your GP and request a referral. Explain the family history and they will more than willingly provide a referral.

Kimberley

Yikes genetic testing is expensive!

Is any of it covered by medicare or PHI? I'll ring VGCS and ask as well.

I don't think much of it is covered, so it's worth going through VGCS, if only to find out your options.

I have emailed Melbourne IVF and VCGS Pathology with some questions so will wait to hear back.

I'm not worried, and not stressing at all. Would just like the peace of mind more than anything!

I just got an email back from VCGS:

:

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Genetic testing is funded by the state government for families in whom a genetic condition has been identified; if you fit into this, then any test costs and counseling will be covered. There is no Medicare item number for muscular dystrophy tests; the clinical team would be able to determine which muscular dystrophy may be present in your family.

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Good to know!

That's good to know. I'd organise an appointment sooner than later if you want to TTC soon. There may be a wait.

We are TTC now, which is a little bit of a concern. AF due on Saturday, so if we're not already PG, we will likely skip the next cycle or two until this is sorted :)

THe VCGS are quite good. When i was tested for CF when pregnant with DS1 it came back positive that i had the gene, but luckily DH was negative. All of my immediate family was able to be tested for free, but as my sister has already had her children and they are all fine, no one chose to have the testing. When my two boys are old enough (18+) i would get them tested to see if i passed it on. I think its good to know what you are dealing with, and what you may have to deal with in the future. From reading some other threads, PGD is VERY expensive, ie. much more expensive than "normal" IVF.

Good luck! J. Xoxo

Here is some info on genetic testing for the Muscular dystrophies. http://www.mda.org.au/Information/Pu...icsTesting.pdf

"Muscular dystrophy" covers more than one condition, it is important to gather as much family info as you can that you can take to the genetic counsellor. If your uncle and partmer's sister have different muscular dystrophies then your chsnces will be different than if they have the same condition. Find out what specific MDs they have and if genetic testing has been performed and their gene changes identified. If testing was done in another State you will need to know the name of the clinic/hospital that they went through.

Thanks ladies :)

I sent my uncle an email today asking for some more info as well as the family history of it - my dad says we have great cousins who had it too.

DP is going to ask his Dad about his little sister.

I know they are different strains - as they affected them each so differently. Just gathering the info.

However I was told by the generic counsellor on the phone today that they don't need to know the particular types as the test will identify the type anyway.

Doesn't hurt to gather all the info though!