**I wrote about the meaning behind the blog name here**
I am 27, English, married, and I carry a chromosomal rearrangement called a balanced translocation.
I was diagnosed with this rearrangement at age 8. My aunt was pregnant and her baby was found to be a balanced carrier (like me) in utero, and the rest of the family was tested.
One of my great-grandparents (likely my great-granny, as female carriers are more likely to birth 'unbalanced' carriers) would have carried this. They had six children, and three were born with unbalanced translocations. The first died at birth, the second lived to about age 7, and the third to 18 months.
My great-granny's children are the only unbalanced live born pregnancies we've had that we are aware of. My grandad's wife (my granny) miscarried 3/6 pregnancies. As far as I am aware, neither my dad or uncle (both carriers) produced any affected pregnancies. (Thought it would be helpful to share this information in case there are other translocation carriers who are interested in how it has affected our family.)
In 2005, I was diagnosed with PCOS. In 2006, when I was 21 and had begun a relationship with my first serious boyfriend, I asked the GP to refer me to the hospital so I could learn what this meant for me. Up until this point, I didn't even know what the thing I carried was called, let along what it meant. I had genetic counselling at Addenbrookes Hospital in Cambridge. A couple of months later I fell pregnant by accident and had a very early miscarriage. Miscarriages are really common to balanced translocation carriers.
The genetic counsellor advised me that approximately 50% of my pregnancies would be affected (unbalanced). Around 90% of unbalanced pregnancies miscarry. I have around a 5% chance of a live born unbalanced pregnancy with every pregnancy. My great-granny is the only 11,22 carrier I am aware of to carry three unbalanced babies to term: maybe her body struggled to distinguish between normal and abnormal embryos, meaning she didn't naturally abort.
In late 2007 I started going to church, after a friend invited me along to a carol service, and after a short time became a Christian.
My husband and I met in early 2009, when we were both 23, and we got married in July 2011. We met online and I told him about the translocation before we even met! He was keen on IVF PGD from the start, but I struggled to make a decision for a long time... Even though in August 2009, a pastor at a church we visited (a very small church) had a picture of the IVF procedure, and we knew that this picture was for us. He prayed with us about it, and I often think back to that time, and the reassurance the pastor gave.
I also have PCOS, and only have periods 3-4 times a year (if lucky!). Obviously this can make conceiving a lot more difficult. For me, seeing the extent to which my ovaries are polycystic on a scan helped confirm to me that we are doing the right thing. They are severely affected, so IVF with PGD really gives us our best shot at creating a biological baby.
We are doing PGD with Care Fertility in Nottingham. We were referred from Leicester Royal Infirmary in January 2012 and had our first appointment at Care in June 2012. We could have started right away, but I was diagnosed with anaemia, so we put treatment off, and our first cycle is in November 2012.
We have been lucky enough to receive funding for treatment under the East Midlands PCT. This entitles us to two cycles, to see whether we produce any viable embryos, and if viable embryos are produced from either of these then we are eligible for unlimited funding after that (including subsequent children). We can't afford to fund any treatment ourselves, so we will just go with what we are offered, and I hope that if that doesn't work out, we will be able to walk away. I feel very blessed that we have been offered such extensive funding.
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