You've Got Mail...

Yesterday we got our letter in the mail following our genetics appointment in August.  It basically requests us to return the form saying we want to go ahead (if we do), which we returned straight away and will have crossed in the mail I assume.  It also suggests that I go to my GP to arrange the fertility tests which I will be doing ASAP.  I figured now would be a good way to explain the process which is written in the letter so I'll copy the relevant bits for anyone who may be wondering what happens next.  Each step assumes that all has gone well in the previous test.  For a bit of background, we are using Sheffield services for the local bits (not exactly local but closer than London) but the actual base for our treatment is Guy's Hospital in London.

DISCLAIMER: I am not a doctor and although this information came from the letter from my doctor it may not be medically accurate.  Always check with your own healthcare professionals for information.

- "We do the work-up locally.  This involves confirming your fertility.  I need to send various blood samples to Guy's Hospital for them to confirm that they could do the laboratory test on the cells biopsied from the embryo." - These points aren't entirely relevant to each other, we need a blood test from myself, ALS and his father to enable them to create the DNA test.  Confirming my fertility is a separate issue.

- "The basic aspects of the procedure are that the Assisted Conception Unit in Sheffield would take over the control of your ovaries.  The first step would be to use some hormone treatment to down-regulate the ovaries and then more hormone treatment to stimulate the ovaries.  There is a small chance that they could overstimulate your ovaries which would require coming into hospital and going on a drip." - This was explained more fully in the clinic appointment and obviously, they have to go over the risks.

- "We would fax a scan of your ovaries to Guy's Hospital for them to arrange for you to have egg collection under sedation. - After this process was explained, I'm seriously glad I won't be awake!

- "These would then be fertilised.  We would take some cells from each embryo, test them on day 5 and freeze then all so that suitable ones can be transplanted at a later date.  I have to tell you that there is a chance there may be no suitable embryos. - This is where all the complicated DNA testing takes place which makes this process differ from normal IVF.  There is a risk that some embryos may not survive the biopsy and of course a risk that there are no suitable ones due to them all containing the chromosome 4 (affected with Huntington's disease) from ALS mother rather than his father.

- "We would only want to transfer one embryo at a time to avoid the possibility of multiple births." - This embryo could split and create twins however it's less likely than if they implant 2 embryos and also means any suitable left over embryos can be implanted later on if we are unsuccessful.  This would count as the same "cycle" so would only be one of our NHS funded attempts even if we have more than one embryo transfer.


So that's the basic process, any other relevant information is below:

What is PGD exclusion testing?

We are using exclusion testing as ALS does not want to know whether he has inherited the HD gene from his mother.  The gene is carried on chromosome 4 (baby will get one chromosome 4 from me and one from ALS) therefore we will only be implanting embryos which have the chromosome 4 from ALS' father, not his mother.  It does mean that there could be some embryos that we don't use that have the chromosome from his mother without actually being affected but this keeps it so that nobody knows ALS' status with regards to the gene.

What are the chances of success?

According to what we have been told the chances of me becoming pregnant increase as we go along.  Current the chance is about 20%.  Once the cycle is started there is around a 33% chance.  If we get to the stage of transferring an embryo then the chance of pregnancy is 50%.  The chance of having a baby at the end may be a little lower because of other things that could go wrong during the pregnancy such as miscarriage etc.

How much funding is available?

The NHS will generally fund 3 rounds of treatment for couples who meet the criteria (this in the UK).  The criteria is related to age and BMI of mum and the fact that neither parent is a smoker.  It's basically the same as the criteria for standard IVF.  There may be other bits to it but these are the big ones.

One round of treatment is until every available embryo has been used.  If the first round is unsuccessful you will be offered a further 2 unless there is a low chance of success (such as the pregnancy was unsuccessful because of fertility issues rather than chance).

What are the risks?

There are all the same risks associated with IVF and of course the risk that embryos may be lost to biopsy.  There is a minute chance that the test will be inaccurate and the baby will have the affected gene but this is incredibly rare and would require a serious medical "cock up" and a lot of bad luck along the way.  There are also the same risks as any other pregnancy such as risks to the mum carrying the child and risks of the child being affected with any other kind of medical problem.

There's lots more information on all these topics at www.pgd.org.uk and if there are any questions about the emotional side of things or anything else feel free to comment or email me.