Monday, July 11, 2011


A fair few months ago I wrote about being broody and about us waiting for our own genetic results - which were, of course (and yet surprisingly) positive.  David and I both carry the SMA gene and therefore we have a 1 in 4 chance of having a baby with SMA.

Ok, no surprises but the appointment with Dr DNA was informative.  Mostly we considered the options should we be thinking about having another child.  So. while our heads are buzzing and mulling over having another baby, now seems like quite an apt time to tell you about our options.

So here our OUR options - as I see them...

Option A:

We can conceive in the good old fashioned way (with lots of practice I hope!) and let nature take it's course knowing that there is a 25% chance that the baby conceived will have SMA. 

We would then need to make a decision as to whether we would like find out if the bambino has SMA.  To do this we can undertake a procedure known as chorionic villus sampling (CVS) between week 11 and 13, or have an amniocentesis after 15 weeks.  Both tests are invasive and carry the small risk (1%) of miscarriage.

But, and it's a big BUT, we must consider in this option what we would do if the baby was found to have SMA...  This will not be considered here; we all make our own decisions, well calculated and considered, and most definitely in private...

Option B:

Dr DNA - "there is the option of egg or sperm donation?"
everhopefulmummy - "oh, I don't have the energy to sleep around!"

Egg and Sperm donation? I had never even considered it... A child that isn't genetically ours but is SMA free?  A child who isn't genetically related to their sisters?  We weren't so sure about this and - please understand that I am in no way demeaning the process - we just don't think that it would be for us.  However, approximately 800 babies are born in the UK each year from donated eggs, sperm and embryos so it is a valuable option for many.  For more information please take a look at

Option C:

IVF and Pre-implantation Genetic Diagnosis (PGD) or embryo screening.  SMA can be screened for before the embryo is implanted in the uterus to, fingers crossed, progress into a healthy pregnancy. 

However, it may be an option BUT as we have a "normal child", that is to say Niamh, we are not eligible  for IVF and PGD on the NHS! We were totally shocked to hear this - how unfair and unjust!  It felt as if we were being punished for having a normal child, never mind one who is wheelchair dependent because of SMA.  So, if we decide to go down the route of IVF it will be funded privately, at great expense and emotional cost.
I've written a wee bit more about PGD in an post later this week so I won't consider it fully here, but please take heed, PGD is an ethically charged procedure.  I will not be discussing the ethics here on this blog.

So my head is buzzing, D's is whirring  - so much to think about, so much to consider when we think about baby 3.  In the end though we will make the right decision - it can only ever be the right decision for all of us...