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Thinking about IVF - genetic condition

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#1 zorkus

Posted 07 January 2013 - 02:29 PM

Hi All,

My fiance and I are looking at IVF/donors to start our family. Recently I was diagnosed with a genetic condition which I have 75% chance of passing on if I have a bub and there is no testing that can be done to rule it out. We have no idea how servere the condition ould be either our bub could be in constant pain. So we have decided it is best if we don't use my eggs. I'm 27 and so is my fiance so we have some time to do this.

Does anyone have advice or knowledge they could pass on to me?

I feel saddened that I won't be able to pass on part of me but hopeful that I will someday be able to have a bub to love.


#2 bright*future

Posted 07 January 2013 - 02:39 PM

Hi Zorkus,

*preg mentioned*

I'm sorry you're finding yourself thinking about this.

My husband and I did IVF with PGD (genetic screening of the embryos) to test for a 50/50 genetic disorder.  I remember how scary, bizarre and sad I felt in those early days when I was just trying to find out about what the options were etc, and find a way through to having our own, healthy baby.  I can remember sitting at the computer at home late at night crying and crying that I might not have my own baby.

I'm now 22 weeks pregnant with a very healthy little boy - both mine and my husbands genetically own baby.

You can use your own eggs if you want to. You are young and unless there are any other problems, you can get into a good clinic and start the process of IVF with PGD.  There is a buddy group in the AC Buddy Group's section, ladies in there are all doing PGD for different reasons, but you get to know each person very well as it's a long, hard journey.  Read back through the older "IVF with PGD" threads too to get some ideas about what actually goes on in a PGD cycle.

I am more than happy to chat with you via the PM system as I can remember very clearly how difficult this early time was, whether you decide PGD is for you or not, I am happy to share my experiences and answer any questions you have.

Sending you buckets of good luck & strength.

Quick edit - so sorry I missed reading that you can't do any testing to rule out the disorder.  We faced that too, there was about a 45% chance we would find the gene to screen against, and thank God we did.  I'm really sorry to have blabbed in irrelevantly about something you probably already know about. I'll leave my post in case it helps someone else one day, but still wishing you the best of luck and I am sure someone will be able to help you with info on donor eggs.

Edited by bright*future, 07 January 2013 - 02:42 PM.

#3 LunaMombie

Posted 07 January 2013 - 03:09 PM

Do you mind me asking what you mean by a pain disorder?  I have fibromyalgia (which is a pain disorder), and they believe it is genetic, in the same way that multiple sclorosis is genetic in that you inherit a genetic predisposition to it.  If there was genetic screening available I would have had it done but it's not.  I'm currently 34 weeks pregnant, with a daughter (women have a better chance then men of getting fibromyalgia) who may or may not be born with or one day devlope fibromyalgia.  Fibromyalgia means I am in constant pain, varying amounts, some days good, some days very bad and have been unable to work for 8 years.  I'm only 30, and have been sick for the last decade.  I can't work, but I have a great family, a loving partner and I'm currently on the way to achieving two of my most important life goals - DH and I spent a while traveling, and now I'm pregnant with our baby.  

It took me a long time to come to terms with my illness and I struggled with the idea of passing it on.  But none of the leading doctors in my field consider it a reason not to have children, the unknown potential for passing it on that is.  I live in constant pain, but I'm used to it, a lot of the time it's more back ground noise then anything else.  I believe if my children inherit my illness I would be the very best person to help them through it, to help them realise that life is worthwhile, that you can live a good life and love life, that pain & fatigue don't have to define you.  They do limit you, but my life is worth living.  That's what my doctor asked me when I spoke to him about my concerns, was my life worth living, and I can honestly say if I'd known I was going to have this I would have chosen to be born, to live.  I have a supportive family and a loving husband, sure if I could be out of pain tomorrow I'd love to be, but I can't.  My life is worth living, my condition will not kill me, it isn't degenerative and you can live with an amazing amount of pain.  And I mean live, not just exist.  

I think you have to come to a decision you feel comfortable with, well you and your DF.  I know my husband didn't consider for a second that we shouldn't have biological children because of my illness, because of it's genetic nature.  If my baby has fibromyalgia I'm sure I will feel guilt, but from friends and reading I believe that's part of the state of being a parent.  I know I will wish she didn't have to experience pain like this, no one should.  But I am hopeful, maybe they will find a good treatment or a cure, and I believe that no matter what her life will be worthwhile, that her condition might limit her but won't define her.  I hope she never has to go through what I've been through, but I know you can get through it, and come out the other side and be glad to be alive and if she's sick I can show her that.

I'm not suggesting for a moment that you should change your mind.  You should do whatever feels right for you and I did consider for a moment how nice it would be not to have that worry, to use donar eggs.  It just wasn't the path for me in the end.  When I looked at it, I couldn't see a reason why.  But I'm not saying I get your individual situation, or feelings just that that's what I felt and my reasoning behing it.   And if you decide to do IVF with donar eggs I totally understand why you would want to.  I just wanted to tell you, as someone who is in pain 24/7/365 and has a genetically inheritable pain condition the conclusion I arrived at and why.    And in the end I know if I hadn't been able to concieve that IVF or adoption, I wouldn't really care about the means just about the outcome.  I've always wanted kids and the miracle in all this is that I'm pregnant.  Whatever way you find that's right for you take it.  I hope you find your donar.

#4 cme

Posted 08 January 2013 - 11:16 AM

Hi DP, It sounds like you are at the very early stage of the journey.

In terms of things you need to think about, do you have anyone in mind as an egg donor? Are there family members that don't have this genetic condition that you could ask or close friends who are aware of your condition? We're currently on the wait list for an anonymous sperm donor, I imagine the wait list for anonymous donor eggs is longer. Someone else here may be able to give you more details.

Have you selected a clinic or got a referal from your GP yet?

The other big thing you should think about at this stage is cost. Do you have health insurance? Are you prepared to try and get into the public clinics which are cheaper but have longer wait times? We probably spent $3k on our first cycle which was abandoned half way thorugh. I imagine I will be $4k out of pocket after the next one.

Best of luck.

#5 cme

Posted 08 January 2013 - 11:16 AM

wierd double post

Edited by cme, 10 January 2013 - 03:29 PM.

#6 zorkus

Posted 08 January 2013 - 04:54 PM

Thanks for the replies.

So my genetic condition is called Ehlers Danlos Syndrome, on top of this I also have fibromyalgia and some early arthritis. I am in constant pain and my joints often sublux and some dislocate, I have many soft tissue injuries strains, sprains etc. I have met kids with my condition except worse and while they are happy and fun loving I on't want to see my kid fall over and dislocate knees and hips every other day.

I have an appointment in february at my pblic genetic clinic who I hope will be able to refer me on to the fertility clinics, I have to get my foot into the public sector as when/if I get public I'll be classed high risk and will need to deliver in the tertiary hospital. I have private health insurance which I will use when I ttc.

As for possible donors I have ruled out my family due to the genetic condition and age. I have a few friends I could ask but they are still in the middle of having their own families. I know the wait lists for egg donors in Aus is quite long, but I am young so I guess whats a few more years.

Thanks for the replies and support.

#7 PatG

Posted 08 January 2013 - 05:02 PM

Hi, just a quick query - has your DF also been genetically tested and found to be a carrier of EDS?  I ask because this, in my limited understanding, is the only way the chances of your child suffering from EDS would be greater than 50%.

#8 zorkus

Posted 08 January 2013 - 05:05 PM

I'm a tricky customer I carry genes for both classical and hypermobility type Tounge1.gif

One is inherited from my mum (autosomal dominant) the other from my dads family(autosomal recessive)! So the 75% chance is sort of a best guess.

My partner is also going to be tested as he carries some eds traits...

Edited by zorkus, 08 January 2013 - 05:06 PM.

#9 Twinkletoot

Posted 08 January 2013 - 05:20 PM


If it helps my husband and I did IVF with pgd for a very rare genetic condition.  Most IVF clinics that do pgd only have capabilities to do some of the key genetic disorders - however after much searching we found that Sydney IVF (think they are now called Genea) can test for virtually anything.  It was a long process for the preparation - there are only two labs in the world that can test for my husbands condition, one in Europe and one in the US.  So we had to send off bloods to them (all done through Sydney IVF who arranged all) as they needed the testing done to find out exactly which chromosome and DNA strand (I know that is the incorrect technical term) were affected.  Once they had that information Sydney IVF could do the rest.  50% of my husbands sperm were affected however during the process I made friends with a girl with a genetic condition that affected 75% of her eggs - she has just given birth to her second child through genea using her own eggs - so using your eggs may not be out of the question.  We also know people that have used genea from interstate

#10 zorkus

Posted 08 January 2013 - 05:27 PM

I'd love to use my own eggs, unfortunately there is no genetic test for my condition anywhere in the world. They have not discovered the mutations in the genes yet, maybe in ten or twenty years I could get that test unfortunately my eggs would have started to degrade by then.

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