A background on Elfie’s condition can be found here and a post I wrote when she was diagnosed is here.
We had some really good news from our genetic counsellor last week. The scientists in Frankfurt who have been analysing Elfie’s blood have managed to isolate and identify the changes in Elfie’s genes which leads to her condition, and rather than her having one gene abnormaity, she has two. Which means that they are now going to be testing mine and Will’s blood to unravel the mystery that is our Weird Genetics.
It’s taken them a year for a few reasons. One, because it took them so long to diagnose Elfie as her condition is so rare; the closest I’ve found to concrete numbers of affected people is a US genetics website that reported ‘at least 60 known cases’ in Feb 2010. Two, because nowhere in this country performs the analysis needed to identify our wonky genes and there were only two places in Europe that could. Three, genes are really small, and as they had no idea where to start with Elfie’s they had to sift through all of them… I can’t even begin to imagine the science behind all of this and my foundation in Medicine (thanks to Grey’s Anatomy) doesn’t even begin to cover it.
I’m glad they have managed to crack our genetic code as we were starting to get a bit worried for unborn Harold baby. In all honesty it’s been a bit of a struggle already: Elfie’s endocronologist has been helpful but unsure as to whether this baby will need treatment in utero, my midwife did an amazing ‘WHA?’ face when I tried to explain Elfie’s diagnosis to her at my booking in appointment and the hospital’s screening department gave me the equivalent over the phone. My maternity care will be consultant-led and closely monitored but there won’t be any testing until the baby’s born. In short, at this point it’s a bit of a waiting game.
We were offered an early amniocentesis to test the new baby’s genes but with the risk of miscarriage I don’t want to chance it. The genetic councillor offering us the amnio told me that we should only have it if we would be planning on ending the pregnancy if the new baby had Elfie’s condition, and we wouldn’t. Though she takes special care and management, once you know Elfie’s danger symptoms, her processes when she’s ill and medicines inside out I don’t think it takes much more than someone with an illness such as diabetes.
However, I am getting more and more concerned about the unborn baby. There’s a one in four chance they will be born with this condition; their blood will be sent to Frankfurt on the day they’re born and there are other tests to be done on day 3 that will give a good indication as to whether or not they’re affected. There’s a two in four chance they will be a carrier, something that shouldn’t affect them in their lifetime as the condition is so very rare, and a one in four chance they won’t be affected at all. It makes me stop and think about whether or not we’ve done the right thing; knowing we have a one in four chance in passing this on to our potential children, should we not have had any more kids? And should we draw the line at two, because of the risks?
It’s difficult to rationalise that thought when we have Elfie, who aside from this little blip is the brightest most beautiful baby. She’s stayed overnight in hospital perhaps two or three times in the last year with vomiting bugs that means she can’t digest her medication and has had more doctors appointment than your average toddler, but has been completely well otherwise. She’s just had her first cold and has recovered quickly and as a normal child would and is growing and developing properly for her age. But then it’s also crazy to think that 40 years ago the doctors would have had no idea what was wrong with her and she probably would have died; the oldest person living with this condition is in their early 40’s, it’s only very recently that medicine has become advanced enough to identify and treat it.
Worrying about whether or now we’ve done the right thing in having another baby could morph into a whole debate over the morals and decision behind procreating – so many people are affected by conditions such as Coeliac disease and Alzheimers that are hereditary, so where do you draw the line? Where do you reach the point that you rely on medicine to such an extent that mutated genes and a slightly modified lifestyle don’t figure in the decision making process?
What would you do?