Thursday, October 10, 2013

Abnormal Genes and Disintegrated Dreams...

Where do I start...???

I had kinda forgotten that Dr. Walsh from SIMS was to ring me today with test results - and how I so wish he never made that call. I wish I could turn back the clock and not take that call today, I wish I had never heard the news I heard today, I wish I never got those results, I wish I never did those damn tests... coz then I could continue living in semi-ignorant bliss where I had hope, where I could picture myself carrying my baby both inside and out, where I think about what school my child will go to, what hobbies they will have, how people will say to me that he/she looks just how I did at that age.... that all disintegrated in about the first 90 seconds of that phone call.

I have a genetic abnormality called Low Low FMR-1 Homozygote. This directly affects follicle development and egg quality. It means that I am genetically predisposed to miscarriage, and while the success rates with fertility treatment are very low in the best of circumstances, this automatically reduces our chances of success by at least half.  Basically when we are conceived, we get half of our genes from our Mother and half from our Father. A certain amount of the genes from each side are 'fertility' genes and decide things like quality of the eggs and how your follicles will develop. I have found out today that my fertility genes from both sides are inadequate. They are low on both my X and Y chromosomes. This is not good news. This is an inherited condition and is very rare. I am only the second person that Dr. Walsh has come across that has this condition. The chances of both parents having deficiencies in those specific genes are very very low, but that is what has happened.

I was also informed that I have some immune abnormalities and I have an elevated level of Natural Killer cells. This means that my body is attacking the embryos when they are put into my womb, killing them.

What this means for us..... Well basically... Patrick's sperm has 100% anti-sperm antibodies which basically eats away at the sperm, my eggs are crap and my womb is pretty much an inhospitable environment and will attack anything that enters.

So... where do we go from here...??? Well, digesting all of this and finding some way to get over the shock of yet another devastating blow will be a good start. Then Dr. Walsh wants me to have my testosterone levels and liver function tested. I then need to have surgery to address some ongoing issues in my lower left abdomen. Dr. Walsh then suggests we do what he calls a 'closure cycle'... basically a cycle of IMSI, using EEVA while suppressing my immune system with steroids and Intra-lipids to keep my Natural Killer cells at bay and stop them from attacking the embryos. If this cycle fails and I miscarry, then the only option for further treatment will be donor eggs/donor sperm.

I swear, this has to be a bloody joke...!!!

I could feel myself getting overwhelmed as Dr. Walsh was speaking to me on the phone, I could feel myself starting to tear up and my mind was drifting a bit. I had to remind myself to pull it together and focus on what he was saying to me. Then I had to tell Patrick. 

I then found myself doing something that I guess would be quite unusual to do after hearing such devastating news... I swallowed what I was feeling and I walked out of my office. I didn't tell anyone at work... I simply carried on. I went into every classroom and chatted with all of the children... like I always do. I sat at the desk in reception and greeted every child and parent as they passed... like I always do. I just carried on. I guess I didn't do too good a job at hiding it completely, as one of the senior staff members noticed something and asked if I was ok, I simply told her that I was.

I don't really know what to do now... it all feels so dismal and yet I don't fully believe it. I feel like we're 
re-enacting the episode of FRIENDS where Monica and Chandler find out much the same thing. I'm feeling pretty lost right now.

2 comments:

  1. hi
    I find your blog brilliant to read and great to know someone is going through this road of infertility.
    we recently failed our 2nd ICSI cycyle with the HARI clinic. I am seriously thinking of going to the SIMS for the immune tests as HARI don't do them.
    I love the HARI clinic they are so nice but I got to rule out a few things before we decide if we go again for another cycle.
    How have you found the SIMS ? ( nervous about changing clinics silly really )
    I wish you all the success in your journey and look forward to reading your updates.

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  2. Hi Alison,
    Thanks for your comment.

    In all honesty... I wouldn't pass SIMS. We've been to a few other Clinics and have found SIMS to be light-years ahead in terms of empathy, professionalism and quality of service.
    They have open days all the time and it is well worth going to, you get a good feel for the Clinic and the people who work there and what kind of service you will receive there.

    I know it is hard to change Clinics... you put a lot of trust and hope into the Clinic that you are attending... and you have a history there.

    I do think it is worth getting the immune tests done though, if for no other reason than to rule it out as a problem.

    Try and go to one of the Open Days if you can and talk to one of the Doctors, see how you feel and you are quite welcome to email me if you would like to chat about it some more (amiryan38@yahoo.co.uk).

    Thanks again for your email,

    Anne-Marie xx

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